BENETTI, ELISA
BENETTI, ELISA
Dipartimento di Biotecnologie Mediche
A first update on mapping the human genetic architecture of COVID-19
2022-01-01 Pathak, Ga; Polimanti, R; Karjalainen, J; Daly, M; Ganna, A; Daly, Mj; Stevens, C; Kanai, M; Liao, Rg; Trankiem, A; Balaconis, Mk; Nguyen, H; Solomonson, M; Veerapen, K; Ripatti, S; Nkambul, L; Bryant, S; Sankaran, Vg; Neale, Bm; Karczewski, Kj; Martin, Ar; Atkinson, Eg; Tsuo, K; Baya, N; Turley, P; Gupta, R; Walters, Rk; Palmer, Ds; Sarma, G; Cheng, N; Lu, W; Churchhouse, C; Goldstein, Ji; King, D; Zhou, W; Seed, C; Finucane, H; Satterstrom, Fk; Andrews, Sj; Sloofman, Lg; Sealfon, Sc; Hoggart, C; Underwood, Sj; Cordioli, M; Pirinen, M; Donner, K; Kivinen, K; Palotie, A; Kaunisto, M; Harerimana, N; Chwialkowska, K; Wolford, B; Roberts, G; Park, D; Ball, Ca; Coignet, M; Mccurdy, S; Knight, S; Partha, R; Rhead, B; Zhang, M; Berkowitz, N; Gaddis, M; Noto, K; Ruiz, L; Pavlovic, M; Hong, El; Rand, K; Girshick, A; Guturu, H; Baltzell, Ah; Niemi, Mek; Pigazzini, S; Rahmouni, S; Georges, M; Belhaj, Y; Guntz, J; Claassen, S; Beguin, Y; Gofflot, S; Nkambule, L; Nkambul, L; Cusick, C; Moutschen, M; Misset, B; Darcis, G; Guiot, J; Azarzar, S; Malaise, O; Huynen, P; Meuris, C; Thys, M; Jacques, J; Leonard, P; Frippiat, F; Giot, Jb; Sauvage, As; Von Frenckell, C; Lambermont, B; Nakanishi, T; Morrison, Dr; Richards, Jb; Butler-Laporte, G; Forgetta, V; Ghosh, B; Laurent, L; Henry, D; Abdullah, T; Adeleye, O; Mamlouk, N; Kimchi, N; Afrasiabi, Z; Rezk, N; Vulesevic, B; Bouab, M; Guzman, C; Petitjean, L; Tselios, C; Xue, Xq; Afilalo, J; Adra, D; Mooser, V; Li, R; Belisle, A; Lepage, P; Ragoussis, J; Auld, D; Lathrop, Gm; Afilalo, M; Oliveira, M; Brenner, B; Brassard, N; Durand, M; Chasse, M; Kaufmann, De; Schurr, E; Hayward, C; Richmond, A; Baillie, Jk; Glessner, Jt; Hakonarson, H; Chang, X; Shaw, Dm; Below, J; Polikowski, H; Lauren, Pe; Chen, Hh; Zhu, Wy; Davis, L; Kerchberger, Ve; Campbell, A; Porteous, Dj; Fawns-Ritchie, C; Morris, M; Mccormick, Jb; North, K; Glessner, Jr; Gignoux, Cr; Wicks, Sj; Crooks, K; Barnes, Kc; Daya, M; Shortt, J; Rafaels, N; Chavan, S; Timmers, Prhj; Wilson, Jf; Tenesa, A; Kerr, Sm; D'Mellow, K; Shahin, D; El-Sherbiny, Ym; El-Jawhari, Jj; von Hohenstaufen, Ka; Sobh, A; Eltoukhy, Mm; Mohamed, Aas; Elhadidy, Ta; Abd Elghafar, Ms; Elnagdy, Mh; Samir, A; Hegazy, Maf; Abdel-Aziz, M; Khafaga, Wt; El-Lawaty, Wm; Torky, Ms; Moahmed, Hs; El-shanshory, Mr; Yassen, Am; Okasha, K; Eid, Ma; Medina-Gomez, C; Uitterlinden, Ag; Ikram, Ma; Magi, R; Milani, L; Metspalu, A; Laisk, T; Lall, K; Lepamets, M; Esko, T; Reimann, E; Alavere, H; Metsalu, K; Puusepp, M; Naaber, P; Laane, E; Pesukova, J; Peterson, P; Kisand, K; Tabri, J; Allos, R; Hensen, K; Starkopf, J; Ringmets, I; Tamm, A; Kallaste, A; Batini, C; Tobin, Md; Venn, Ld; Lee, Ph; Shrine, N; Williams, At; Guyatt, Al; John, C; Packer, Rj; Ali, A; Wang, X; Wain, Lv; Bee, Ce; Adams, El; Free, Rc; Hollox, Ej; Ruotsalainen, S; Kristiansson, K; Koskelainen, S; Perola, M; Rivolta, C; Quinodoz, M; Kamdar, D; Bochud, Py; Boillat, N; Bibert, S; Nussle, Sg; Albrich, W; Suh, N; Neofytos, D; Erard, V; Voide, C; Friolet, R; Vollenweider, P; Pagani, Jl; Oddo, M; zu Bentrup, Fm; Conen, A; Clerc, O; Marchetti, O; Guillet, A; Guyat-Jacques, C; Foucras, S; Rime, M; Chassot, J; Jaquet, M; Viollet, Rm; Lannepoudenx, Y; Portopena, L; Bochud, Py; Desgranges, F; Filippidis, P; Guery, B; Haefliger, D; Kampouri, Ee; Manuel, O; Munting, A; Papadimitriou-Olivgeris, M; Regina, J; Rochat-Stettler, L; Suttels, V; Tadini, E; Tschopp, J; Van Singer, M; Viala, B; Boillat-Blanco, N; Brahier, T; Hugli, O; Meuwly, Jy; Pantet, O; Nussle, Sg; Bochud, M; D'Acremont, V; Younes, Se; Albrich, Wc; Suh, N; Cerny, A; O'Mahony, L; von Mering, C; Frischknecht, M; Kleger, Gr; Filipovic, M; Kahlert, Cr; Wozniak, H; Negro, Tr; Pugin, J; Bouras, K; Knapp, C; Egger, T; Perret, A; Montillier, P; di Bartolomeo, C; Barda, B; de Cid, R; Carreras, A; Galvan-Femenia, I; Blay, N; Farre, X; Sumoy, L; Cortes, B; Moreno, V; Kogevinas, M; Garcia-Aymerich, J; Castano-Vinyals, G; Dobano, C; Mercader, Jm; Mercader, J; Guindo-Martinez, M; Torrents, D; Gori, M; Picchiotti, N; Tanfoni, M; Renieri, A; Mari, F; Fallerini, C; Daga, S; Baldassarri, M; Fava, F; Frullanti, E; Valentino, F; Doddato, G; Giliberti, A; Bruttini, M; Croci, S; Meloni, I; Beligni, G; Di Sarno, L; Palmieri, M; Carriero, Ml; Alaverdian, D; Tita, R; Amitrano, S; Mencarelli, Ma; Lo Rizzo, C; Pinto, Am; Montagnani, F; Tumbarello, M; Furini, S; Benetti, E; Zguro, K; Capitani, K; Bianchi, F; Lista, M; Mondelli, Mu; Bruno, R; Castelli, F; Quiros-Roldan, E; Degli Antoni, M; Vaghi, M; Rusconi, S; Riva, A; Siano, M; Gabrieli, A; Fabbiani, M; Rossetti, B; Rancan, I; Bargagli, E; Bergantini, L; D'Alessandro, M; Cameli, P; Bennett, D; Franchi, F; Anedda, F; Marcantonio, S; Scolletta, S; Mazzei, Ma; Guerrini, S; Cantarini, L; Conticini, E; Frediani, B; Tacconi, D; Spertilli, C; Feri, M; Donati, A; Scala, R; Guidelli, L; Spargi, G; Corridi, M; Nencioni, C; Croci, L; Bandini, M; Piacentini, P; Desanctis, E; Cappelli, S; Caldarelli, Gp; Canaccini, A; Verzuri, A; Anemoli, V; Ognibene, A; Pancrazzi, A; Lorubbio, M; Monforte, Ad; Miraglia, Fg; Girardis, M; Busani, S; Venturelli, S; Antinori, A; Emiliozzi, A; Vergori, A; Francisci, D; Schiaroli, E; Tommasi, A; Paciosi, F; Scotton, Pg; Andretta, F; Panese, S; Scaggiante, R; Gatti, F; Della Monica, M; Piscopo, C; Capasso, M; Russo, R; Andolfo, I; Iolascon, A; Merla, G; Fiorentino, G; Castori, M; Carella, M; Aucella, F; Di Biagio, A; Bassetti, M; Masucci, L; Sanguinetti, M; Guarnaccia, A; Valente, S; De Vivo, O; Mandala, M; Giorli, A; Salerni, L; Zucchi, P; Parravicini, P; Giannattasio, F; Trotta, T; Coiro, G; Coviello, Da; Mussini, C; Tavecchia, L; Belli, Ma; Mancarella, S; Crotti, L; Parati, G; Rizzi, M; Maggiolo, F; Ripamonti, D; La Rovere, Mt; Sarzi-Braga, S; Bussotti, M; Ravaglia, S; Artuso, R; Andreucci, E; Perrella, A; Romani, D; Bergomi, P; Catena, E; Colombo, R; Vincenti, A; Ferri, C; Grassi, D; Pessina, G; Poscente, M; Di Pietro, M; Sabrina, R; Luchi, S; Dei, S; Sanarico, M; Gabbi, C; Ceri, S; Pinoli, P; Raimondi, F; Biscarini, F; Stella, A; Vecchia, M; Mantovani, S; Ludovisi, S; Zanella, I; Cossarizza, A; Parisi, Sg; Baratti, S; Squeo, Gm; Raggi, P; Marciano, C; Perna, R; Menatti, E; Lena, F; Martinelli, E; Bachetti, T; Suardi, C; Botta, G; Di Domenico, P; Barbieri, C; Tiseo, G; Falcone, M; Acquilini, D; Segala, Fv; Petrocelli, P; Baroni, S; van Heel, Da; Hunt, Ka; van Heel, D; Trembath, Rc; Huang, Qq; Martin, Hc; Mason, D; Wright, J; Trivedi, B; Finer, S; Akhtar, S; Anwar, M; Arciero, E; Ashraf, S; Breen, G; Chung, R; Curtis, Cj; Chowdhury, M; Colligan, G; Deloukas, P; Durham, C; Griffiths, C; Hurles, M; Hussain, S; Islam, K; Khan, A; Khan, A; Lavery, C; Lee, Sh; Lerner, R; Macarthur, D; Maclaughlin, B; Martin, H; Miah, S; Newman, B; Safa, N; Tahmasebi, F; Griffiths, Cj; Smith, Av; Boughton, Ap; Li, Kw; Lefaive, J; Annis, A; Zollner, S; Wang, Jm; Beck, A; Niavarani, A; Sharififard, B; Aliannejad, R; Naderpour, Z; Amirsavadkouhi, A; Tadi, Ha; Aleagha, Ae; Ahmadi, S; Moghaddam, Sbm; Adamsara, A; Saeedi, M; Abdollahi, H; Hosseini, A; Chariyavilaskul, P; Jantarabenjakul, W; Putchareon, O; Torvorapanit, P; Puthanakit, T; Hirankarn, N; Sodsai, P; Chamnanphon, M; Suttichet, Tb; Shotelersuk, V; Phokaew, C; Chetruengchai, W; Pongpanich, M; Suchartlikitwong, P; Nilaratanakul, V; Brumpton, B; Hveem, K; Asvold, Bo; Willer, C; Rogne, T; Solligard, E; Franke, L; Claringbould, A; Lopera, E; Warmerdam, R; van Blokland, I; Boezen, M; Deelen, P; Vonk, Jm; Lanting, P; Ori, Aps; Feng, Yca; Weiss, St; Karlson, Ew; Woolley, Ae; Smoller, Jw; Murphy, Sn; Meigs, Jb; Green, Rc; Perez, Ef; Ascolillo, S; Thompson, Rc; Beckmann, Nd; Sebra, Rp; Gettler, K; Salib, I; Zyndorf, M; Schadt, Ee; Collins, Bl; Levy, T; Buxbaum, Jd; Britvan, B; Keller, K; Tang, L; Peruggia, M; Hiester, Ll; Niblo, K; Aksentijevich, A; Labkowsky, A; Karp, A; Zlatopolsky, M; Jordan, Dm; Chaudhary, K; Cho, Jh; Itan, Y; Do, R; Nadkarni, Gn; Preuss, M; Loos, Rjf; Belbin, Gm; Abul-Husn, Ns; Kenny, Ee; Choi, S; O'Reilly, P; Charney, Aw; Huckins, Lm; Ferreira, Mar; Abecasis, Gr; Cantor, Mn; Kosmicki, Ja; Horowitz, Je; Baras, A; Yadav, A; Leader, Jb; Gass, Mc; Justice, Ae; Chittoor, G; Josyula, Ns; Carey, Dj; Mirshahi, T; Hottenga, Jj; Bartels, M; de Geus, Eejc; Nivard, Mmg; Verma, A; Ritchie, Md; Rader, D; Verma, Ss; Lucas, A; Bradford, Y; Li, B; Abedalthagafi, M; Al Harthi, F; Alsolm, E; Abu Safieh, L; Alowayn, Am; Alqubaishi, F; Al Mutairi, A; Albardis, H; Alotaibi, S; Fawzy, Ms; Alaamery, M; Massadeh, S; Almutairi, M; Alshareef, A; Suliman, Ba; Sawaji, M; Almalik, A; Alqahtani, S; Baraka, D; Hasanato, R; Mangul, S; Aljawini, N; Albesher, N; Alkwai, S; Alswailm, M; Almohammed, I; Arabi, Ym; Mahmoud, Es; Khattab, Ak; Halawani, Rt; Alahmadey, Zz; Albakri, Jk; Felemban, Wa; Al-Awdah, L; Alghamdi, J; Alzahrani, D; Aldhawi, N; Almalki, F; Albeladi, M; Albader, A; Aljohani, S; Al-Afghani, H; Barhoush, E; Alghamdi, B; Jung, J; Alrashed, M; Zeberg, H; Maricic, T; Frithiof, R; Hultstrom, M; Lipcsey, M; Tardif, N; Rooyackers, O; Grip, J; Helgeland, O; Harris, Jr; Magnus, P; Lee, Y; Trogstad, Lis; Mangino, M; Spector, Td; Emma, D; Moutsianas, L; Caulfield, Mj; Scott, Rh; Rendon, A; Kousathanas, A; Pasko, D; Walker, S; Stuckey, A; Odhams, Ca; Rhodes, D; Fowler, T; Chan, G; Arumugam, P; Wilson, Dj; Earle, Sg; Lin, Sk; Arning, N; Armstrong, J; Rudkin, Jk; Spencer, Cca; Koelling, N; Crook, Dw; Wyllie, Dh; O'Connell, Am; Band, G; Callier, S; Soranzo, N; Zhao, Jh; Danesh, J; Di Angelantonio, E; Butterworth, As; Sun, Yv; Huffman, Je; O'Donnell, Cj; Peloso, G; Cho, K; Gaziano, Jm; Ho, Yl; Tsao, P; Priest, J; Smieszek, Sp; Polymeropoulos, C; Polymeropoulos, V; Polymeropoulos, Mh; Przychodzen, Bp; Fernandez-Cadenas, I; Llucia-Carol, L; Cullell, N; Muino, E; Carcel-Marquez, J; Planas, Am; Perez-Tur, J; Dediego, Ml; Iglesias, Ll; Soriano, A; Rico, V; Aguero, D; Bedini, Jl; Domingo, C; Robles, V; Lozano, F; Ruiz-Jaen, F; Marquez, L; Gomez, J; Coto, E; Albaiceta, Gm; Garcia-Clemente, M; Dalmau, D; Arranz, Mj; Dietl, B; Serra-Llovich, A; Soler, P; Colobran, R; Martin-Nalda, A; Martinez, Ap; Bernardo, D; Fiz-Lopez, A; Arribas, E; De La Cal-Sabater, P; Rojo, S; Segura, T; Gonzalez-Villa, E; Serrano-Heras, G; Marti-Fabregas, J; Jimenez-Xarrie, E; Mimbrera, Ad; Masjuan, J; Garcia-Madrona, S; Dominguez-Mayoral, A; Villalonga, Jm; Menendez-Valladares, P; Chasman, Di; Sesso, Hd; Manson, Je; Buring, Je; Ridker, Pm; Franco, G; Lee, S; Biesecker, L
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
2021-01-01 de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; Null, Null; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vitobello, Antonio; Rodenburg, Richard J.; Coenen, Marieke J. H.; Janssen, Mirian; Henssen, Dylan; Gilissen, Christian; Steyaert, Wouter; Paramonov, Ida; Null, Null; Banka, Siddharth; Benetti, Elisa; Casari, Giorgio; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; de Boer, Elke; Ellwanger, Kornelia; Faivre, Laurence; Graessner, Holm; Haack, Tobias B.; Hammarsjö, Anna; Havlovicova, Marketa; Hoischen, Alexander; Hugon, Anne; Jackson, Adam; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Macek, Milan; Morleo, Manuela; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Verloes, Alain; Vissers, Lisenka; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Trimouille, Aurélien; Kleefstra, Tjitske; Verloes, Alain; Vissers, Lisenka E. L. M.
AAV-mediated FOXG1 gene editing in human Rett primary cells
2020-01-01 Croci, S.; Carriero, M. L.; Capitani, K.; Daga, S.; Donati, F.; Papa, F. T.; Frullanti, E.; Lopergolo, D.; Lamacchia, V.; Tita, R.; Giliberti, A.; Benetti, E.; Niccheri, F.; Furini, S.; Lo Rizzo, C.; Conticello, S. G.; Renieri, A.; Meloni, I.
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
2020-01-01 Benetti, E.; Tita, R.; Spiga, O.; Ciolfi, A.; Birolo, G.; Bruselles, A.; Doddato, G.; Giliberti, A.; Marconi, C.; Musacchia, F.; Pippucci, T.; Torella, A.; Trezza, A.; Valentino, F.; Baldassarri, M.; Brusco, A.; Asselta, R.; Bruttini, M.; Furini, S.; Seri, M.; Nigro, V.; Matullo, G.; Tartaglia, M.; Mari, F.; Frullanti, E.; Fallerini, C.; Daga, S.; Croci, S.; Amitrano, S.; Fava, F.; Montagnani, F.; Di Sarno, L.; Tommasi, A.; Palmieri, M.; Emiliozzi, A.; Fabbiani, M.; Rossetti, B.; Zanelli, G.; Bergantini, L.; D’Alessandro, M.; Cameli, P.; Bennet, D.; Anedda, F.; Marcantonio, S.; Scolletta, S.; Franchi, F.; Mazzei, M. A.; Conticini, E.; Cantarini, L.; Frediani, B.; Tacconi, D.; Feri, M.; Scala, R.; Spargi, G.; Corridi, M.; Nencioni, C.; Caldarelli, G. P.; Spagnesi, M.; Piacentini, P.; Bandini, M.; Desanctis, E.; Canaccini, A.; Spertilli, C.; Donati, A.; Guidelli, L.; Croci, L.; Verzuri, A.; Anemoli, V.; Ognibene, A.; Vaghi, M.; D’Arminio Monforte, A.; Merlini, E.; Mondelli, M. U.; Mantovani, S.; Ludovisi, S.; Girardis, M.; Venturelli, S.; Sita, M.; Cossarizza, A.; Antinori, A.; Vergori, A.; Rusconi, S.; Siano, M.; Gabrieli, A.; Riva, A.; Francisci, D.; Schiaroli, E.; Scotton, P. G.; Andretta, F.; Panese, S.; Scaggiante, R.; Parisi, S. G.; Castelli, F.; Quiros-Roldan, M. E.; Magro, P.; Minardi, C.; Castelli, D.; Polesini, I.; Della Monica, M.; Piscopo, C.; Capasso, M.; Russo, R.; Andolfo, I.; Iolascon, A.; Carella, M.; Castori, M.; Merla, G.; Aucella, F.; Raggi, P.; Marciano, C.; Perna, R.; Bassetti, M.; Di Biagio, A.; Sanguinetti, M.; Masucci, L.; Gabbi, C.; Valente, S.; Guerrini, S.; Meloni, I.; Mencarelli, M. A.; Rizzo, C. L.; Bargagli, E.; Mandalà, M.; Giorli, A.; Salerni, L.; Fiorentino, G.; Zucchi, P.; Parravicini, P.; Menatti, E.; Baratti, S.; Trotta, T.; Giannattasio, F.; Coiro, G.; Lena, F.; Coviello, D. A.; Mussini, C.; Renieri, A.; Pinto, A. M.
An explainable model of host genetic interactions linked to COVID-19 severity
2022-01-01 Onoja, Anthony; Picchiotti, Nicola; Fallerini, Chiara; Baldassarri, Margherita; Fava, Francesca; Mari, Francesca; Daga, Sergio; Benetti, Elisa; Bruttini, Mirella; Palmieri, Maria; Croci, Susanna; Amitrano, Sara; Meloni, Ilaria; Frullanti, Elisa; Doddato, Gabriella; Lista, Mirjam; Beligni, Giada; Valentino, Floriana; Zguro, Kristina; Tita, Rossella; Giliberti, Annarita; Mencarelli, MARIA ANTONIETTA; LO RIZZO, Caterina; Pinto, ANNA MARIA; Ariani, Francesca; DI SARNO, Laura; Montagnani, Francesca; Tumbarello, Mario; Rancan, Ilaria; Fabbiani, Massimiliano; Rossetti, Barbara; Bergantini, Laura; D'Alessandro, Miriana; Cameli, Paolo; Bennett, David; Anedda, Federico; Marcantonio, Simona; Scolletta, Sabino; Franchi, Federico; Mazzei, MARIA ANTONIETTA; Guerrini, Susanna; Conticini, Edoardo; Cantarini, Luca; Frediani, Bruno; Tacconi, Danilo; SPERTILLI RAFFAELLI, Chiara; Feri, Marco; Donati, Alice; Scala, Raffaele; Guidelli, Luca; Spargi, Genni; Corridi, Marta; Nencioni, Cesira; Croci, Leonardo; Piero Caldarelli, Gian; Romani, Davide; Piacentini, Paolo; Bandini, Maria; Desanctis, Elena; Cappelli, Silvia; Canaccini, Anna; Verzuri, Agnese; Anemoli, Valentina; Pisani, Manola; Ognibene, Agostino; Pancrazzi, Alessandro; Lorubbio, Maria; Vaghi, Massimo; D'Arminio Monforte, Antonella; Gaia Miraglia, Federica; Bruno, Raffaele; Vecchia, Marco; Girardis, Massimo; Venturelli, Sophie; Busani, Stefano; Cossarizza, Andrea; Antinori, Andrea; Vergori, Alessandra; Emiliozzi, Arianna; Rusconi, Stefano; Siano, Matteo; Gabrieli, Arianna; Riva, Agostino; Francisci, Daniela; Schiaroli, Elisabetta; Paciosi, Francesco; Tommasi, Andrea; Zuccon, Umberto; Vietri, Lucia; Giorgio Scotton, Pier; Andretta, Francesca; Panese, Sandro; Baratti, Stefano; Scaggiante, Renzo; Gatti, Francesca; Giuseppe Parisi, Saverio; Castelli, Francesco; Quiros-Roldan, Eugenia; Degli Antoni, Melania; Zanella, Isabella; Della Monica, Matteo; Piscopo, Carmelo; Capasso, Mario; Russo, Roberta; Andolfo, Immacolata; Iolascon, Achille; Fiorentino, Giuseppe; Carella, Massimo; Castori, Marco; Aucella, Filippo; Raggi, Pamela; Perna, Rita; Bassetti, Matteo; Di Biagio, Antonio; Sanguinetti, Maurizio; Masucci, Luca; Guarnaccia, Alessandra; Valente, Serafina; DE VIVO, Oreste; Bargagli, Elena; Mandalà, Marco; Giorli, Alessia; Salerni, Lorenzo; Zucchi, Patrizia; Parravicini, Pierpaolo; Menatti, Elisabetta; Trotta, Tullio; Giannattasio, Ferdinando; Coiro, Gabriella; Lena, Fabio; Lacerenza, Gianluca; A Coviello, Domenico; Mussini, Cristina; Martinelli, Enrico; Tavecchia, Luisa; Ann Belli, Mary; Crotti, Lia; Parati, Gianfranco; Sanarico, Maurizio; Biscarini, Filippo; Stella, Alessandra; Rizzi, Marco; Maggiolo, Franco; Ripamonti, Diego; Suardi, Claudia; Bachetti, Tiziana; Teresa La Rovere, Maria; Sarzi-Braga, Simona; Bussotti, Maurizio; Capitani, Katia; Dei, Simona; Ravaglia, Sabrina; Artuso, Rosangela; Andreucci, Elena; Gori, Giulia; Pagliazzi, Angelica; Fiorentini, Erika; Perrella, Antonio; Bianchi, Francesco; Bergomi, Paola; Catena, Emanuele; Colombo, Riccardo; Luchi, Sauro; Morelli, Giovanna; Petrocelli, Paola; Iacopini, Sarah; Modica, Sara; Baroni, Silvia; Vladimiro Segala, Francesco; Menichetti, Francesco; Falcone, Marco; Tiseo, Giusy; Barbieri, Chiara; Matucci, Tommaso; Grassi, Davide; Ferri, Claudio; Marinangeli, Franco; Brancati, Francesco; Vincenti, Antonella; Borgo, Valentina; Lombardi, Stefania; Lenzi, Mirco; Antonio Di Pietro, Massimo; Vichi, Francesca; Romanin, Benedetta; Attala, Letizia; Costa, Cecilia; Gabbuti, Andrea; Menè, Roberto; Colaneri, Marta; Casprini, Patrizia; Merla, Giuseppe; Maria Squeo, Gabriella; Maffezzoni, Marcello; Mantovani, Stefania; U Mondelli, Mario; Ludovisi, Serena; Francesca, ; Francesca, Colombo; Chiaromonte, Francesca; Renieri, Alessandra; Furini, Simone; Raimondi., Francesco
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study
2021-01-01 Fallerini, C.; Daga, S.; Mantovani, S.; Benetti, E.; Picchiotti, N.; Francisci, D.; Paciosi, F.; Schiaroli, E.; Baldassarri, M.; Fava, F.; Palmieri, M.; Ludovisi, S.; Castelli, F.; Quiros-Roldan, E.; Vaghi, M.; Rusconi, S.; Siano, M.; Bandini, M.; Spiga, O.; Capitani, K.; Furini, S.; Mari, F.; Valentino, F.; Doddato, G.; Giliberti, A.; Tita, R.; Amitrano, S.; Bruttini, M.; Croci, S.; Meloni, I.; Mencarelli, M. A.; Lo Rizzo, C.; Pinto, A. M.; Di Sarno, L.; Beligni, G.; Tommasi, A.; Iuso, N.; Montagnani, F.; Fabbiani, M.; Rossetti, B.; Zanelli, G.; Bargagli, E.; Bergantini, L.; D’Alessandro, M.; Cameli, P.; Bennett, D.; Anedda, F.; Marcantonio, S.; Scolletta, S.; Franchi, F.; Mazzei, M. A.; Guerrini, S.; Conticini, E.; Cantarini, L.; Frediani, B.; Tacconi, D.; Spertilli, C.; Feri, M.; Donati, A.; Scala, R.; Guidelli, L.; Spargi, G.; Corridi, M.; Nencioni, C.; Croci, L.; Caldarelli, G. P.; Spagnesi, M.; Romani, D.; Piacentini, P.; Desanctis, E.; Cappelli, S.; Canaccini, A.; Verzuri, A.; Anemoli, V.; Ognibene, A.; D’Arminio Monforte, A.; Miraglia, F. G.; Girardis, M.; Venturelli, S.; Busani, S.; Cossarizza, A.; Antinori, A.; Vergori, A.; Emiliozzi, A.; Gabrieli, A.; Riva, A.; Scotton, P. G.; Andretta, F.; Panese, S.; Scaggiante, R.; Gatti, F.; Parisi, S. G.; Baratti, S.; Antoni, M. D.; Monica, M. D.; Piscopo, C.; Capasso, M.; Russo, R.; Andolfo, I.; Iolascon, A.; Fiorentino, G.; Carella, M.; Castori, M.; Merla, G.; Squeo, G. M.; Aucella, F.; Raggi, P.; Marciano, C.; Perna, R.; Bassetti, M.; Biagio, A. D.; Sanguinetti, M.; Masucci, L.; Valente, S.; Mandalà, M.; Giorli, A.; Salerni, L.; Zucchi, P.; Parravicini, P.; Menatti, E.; Trotta, T.; Giannattasio, F.; Coiro, G.; Lena, F.; Coviello, D. A.; Mussini, C.; Bosio, G.; Martinelli, E.; Mancarella, S.; Tavecchia, L.; Gori, M.; Crotti, L.; Parati, G.; Gabbi, C.; Zanella, I.; Rizzi, M.; Maggiolo, F.; Ripamonti, D.; Bachetti, T.; Rovere, M. T. L.; Sarzi-Braga, S.; Bussotti, M.; Chiariello, M.; Belli, M. A.; Dei, S.; Renieri, A.; Mondelli, M. U.; Frullanti, E.
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age
2021-01-01 Zanella, I.; Zacchi, E.; Piva, S.; Filosto, M.; Beligni, G.; Alaverdian, D.; Amitrano, S.; Fava, F.; Baldassarri, M.; Frullanti, E.; Meloni, I.; Renieri, A.; Mari, F.; Daga, S.; Benetti, E.; Furini, S.; Fallerini, C.; Valentino, F.; Doddato, G.; Giliberti, A.; Tita, R.; Bruttini, M.; Croci, S.; Pinto, A. M.; Mencarelli, M. A.; Rizzo, C. L.; Montagnani, F.; Tumbarello, M.; Rancan, I.; Sarno, L. D.; Palmieri, M.; Carriero, M. L.; Fabbiani, M.; Rossetti, B.; Bargagli, E.; Bergantini, L.; D’Alessandro, M.; Cameli, P.; Bennett, D.; Anedda, F.; Marcantonio, S.; Scolletta, S.; Franchi, F.; Mazzei, M. A.; Guerrini, S.; Conticini, E.; Cantarini, L.; Frediani, B.; Tacconi, D.; Raffaelli, C. S.; Feri, M.; Donati, A.; Scala, R.; Guidelli, L.; Spargi, G.; Corridi, M.; Nencioni, C.; Croci, L.; Caldarelli, G. P.; Spagnesi, M.; Piacentini, P.; Bandini, M.; Desanctis, E.; Cappelli, S.; Canac-Cini, A.; Verzuri, A.; Anemoli, V.; Ognibene, A.; Pancrazi, A.; Lorubbio, M.; Vaghi, M.; Monforte, A. D.; Miraglia, F. G.; Mondelli, M. U.; Bruno, R.; Marco, V.; Mantovani, S.; Ludovisi, S.; Girardis, M.; Venturelli, S.; Busani, S.; Cossarizza, A.; Antinori, A.; Vergori, A.; Emiliozzi, A.; Rusconi, S.; Siano, M.; Gabrieli, A.; Riva, A.; Francisci, D.; Schiaroli, E.; Tommasi, A.; Paciosi, F.; Scotton, P. G.; Andretta, F.; Panese, S.; Scaggiante, R.; Gatti, F.; Parisi, S. G.; Antoni, M. D.; Monica, M. D.; Piscopo, C.; Capasso, M.; Russo, R.; Andolfo, I.; Iolascon, A.; Fiorentino, G.; Carella, M.; Castori, M.; Merla, G.; Squeo, G. M.; Aucella, F.; Raggi, P.; Marciano, C.; Perna, R.; Bassetti, M.; Biagio, A. D.; Sanguinetti, M.; Masucci, L.; Valente, S.; Mandalà, M.; Giorli, A.; Salerni, L.; Zucchi, P.; Parravicini, P.; Menatti, E.; Baratti, S.; Trotta, T.; Giannattasio, F.; Coiro, G.; Lena, F.; Coviello, D. A.; Mussini, C.; Bosio, G.; Martinelli, E.; Mancarella, S.; Tavecchia, L.; Belli, M. A.; Crotti, L.; Parati, G.; Picchiotti, N.; Gori, M.; Gabbi, C.; Sanarico, M.; Ceri, S.; Pinoli, P.; Raimondi, F.; Bis-Carini, F.; Stella, A.; Rizzi, M.; Maggiolo, F.; Ripamonti, D.; Suardi, C.; Bachetti, T.; Rovere, M. T. L.; Sarzi-Braga, S.; Bussotti, M.; Capitani, K.; Zguro, K.; Dei, S.; Ravaglia, S.; Artuso, R.; Perrella, A.; Bianchi, F.; Bergomi, P.; Catena, E.; Colombo, R.; Perticaroli, V.; Gennarelli, M.; Magri, C.; Basiotto, G.; Zizioli, D.; Giliani, S.; Monti, E.; Focà, E.; Carriero, C.; Latronico, N.; Padovani, A.; Brugnoni, D.; GEVACOBA Study, Group; Castelli, F.; Quiros-Roldan, E.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
2023-01-01 Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A.; Chandler, Kate E.; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D.; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.; Giess, A.; Griffin, J. N.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O‘donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; 't Hoen, Peter A. C.; Vissers, Lisenka E. L. M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Rodriguez Cruz, Pedro M.; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Varshney, Gaurav K.; Banka, Siddharth
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
2022-01-01 Fallerini, Chiara; Picchiotti, Nicola; Baldassarri, Margherita; Zguro, Kristina; Daga, Sergio; Fava, Francesca; Benetti, Elisa; Amitrano, Sara; Bruttini, Mirella; Palmieri, Maria; Croci, Susanna; Lista, Mirjam; Beligni, Giada; Valentino, Floriana; Meloni, Ilaria; Tanfoni, Marco; Minnai, Francesca; Colombo, Francesca; Cabri, Enrico; Fratelli, Maddalena; Gabbi, Chiara; Mantovani, Stefania; Frullanti, Elisa; Gori, Marco; Crawley, Francis P.; Butler-Laporte, Guillaume; Richards, Brent; Zeberg, Hugo; Lipcsey, Miklos; Hultström, Michael; Ludwig, Kerstin U.; Schulte, Eva C.; Pairo-Castineira, Erola; Kenneth Baillie, John; Schmidt, Axel; Frithiof, Robert; Working Group Within the HGI, Wes/wgs; Consortium, Genomicc; Multicenter Study, GEN-COVID; Mari, Francesca; Renieri &, Alessandra; Furini, Simone; Montagnani, Francesca; Tumbarello, Mario; Rancan, Ilaria; Fabbiani, Massimiliano; Rossetti, Barbara; Bergantini, Laura; D’Alessandro, Miriana; Cameli, Paolo; Bennett, David; Anedda, Federico; Marcantonio, Simona; Scolletta, Sabino; Franchi, Federico; Mazzei, MARIA ANTONIETTA; Guerrini, Susanna; Conticini, Edoardo; Cantarini, Luca; Frediani, Bruno; Tacconi, Danilo; Spertilli Raffaelli, Chiara; Feri, Marco; Donati, Alice; Scala, Raffaele; Guidelli, Luca; Spargi, Genni; Corridi, Marta; Nencioni, Cesira; Croci, Leonardo; Piero Caldarelli, Gian; Spagnesi, Maurizio; Romani, Davide; Piacentini, Paolo; Bandini, Maria; Desanctis, Elena; Cappelli, Silvia; Canaccini, Anna; Verzuri, Agnese; Anemoli, Valentina; Pisani, Manola; Ognibene, Agostino; Pancrazzi, Alessandro; Lorubbio, Maria; Vaghi, Massimo; ’Arminio Monforte, Antonella D.; Gaia Miraglia, Federica; Mondelli, Mario U.; Girardis, Massimo; Venturelli, Sophie; Busani, Stefano; Cossarizza, Andrea; Antinori, Andrea; Vergori, Alessandra; Emiliozzi, Arianna; Rusconi, Stefano; Siano, Matteo; Gabrieli, Arianna; Riva, Agostino; Francisci, Daniela; Schiaroli, Elisabetta; Paciosi, Francesco; Tommasi, Andrea; Giorgio Scotton, Pier; Andretta, Francesca; Panese, Sandro; Baratti, Stefano; Scaggiante, Renzo; Gatti, Francesca; Giuseppe Parisi, Saverio; Castelli, Francesco; Quiros-Roldan, Eugenia; Degli Antoni, Melania; Zanella, Isabella; Della Monica, Matteo; Piscopo, Carmelo; Capasso, Mario; Russo, Roberta; Andolfo, Immacolata; Iolascon, Achille; Fiorentino, Giuseppe; Carella, Massimo; Castori, Marco; Aucella, Filippo; Raggi, Pamela; Perna, Rita; Bassetti, Matteo; Di Biagio, Antonio; Sanguinetti, Maurizio; Masucci, Luca; Guarnaccia, Alessandra; Valente, Serafina; De Vivo, Oreste; Doddato, Gabriella; Tita, Rossella; Giliberti, Annarita; Antonietta Mencarelli, Maria; Lo Rizzo, Caterina; Maria Pinto, Anna; Perticaroli, Valentina; Ariani, Francesca; Lucia Carriero, Miriam; Di Sarno, Laura; Alaverdian, Diana; Bargagli, Elena; Mandalà, Marco; Giorli, Alessia; Salerni, Lorenzo; Zucchi, Patrizia; Parravicini, Pierpaolo; Menatti, Elisabetta; Trotta, Tullio; Giannattasio, Ferdinando; Coiro, Gabriella; Lena, Fabio; Gianluca Lacerenza, Leonardo; Coviello, Domenico A.; Mussini, Cristina; Martinelli, Enrico; Mancarella, Sandro; Tavecchia, Luisa; Ann Belli, Mary; Crotti, Lia; Parati, Gianfranco; Sanarico, Maurizio; Raimondi, Francesco; Biscarini, Filippo; Stella, Alessandra; Rizzi, Marco; Maggiolo, Franco; Ripamonti, Diego; Suardi, Claudia; Bachetti, Tiziana; Teresa La Rovere, Maria; Sarzi-Braga, Simona; Bussotti, Maurizio; Capitani, Katia; Dei, Simona; Ravaglia, Sabrina; Artuso, Rosangela; Andreucci, Elena; Gori, Giulia; Pagliazzi, Angelica; Fiorentini, Erika; Perrella, Antonio; Bianchi, Francesco; Bergomi, Paola; Catena, Emanuele; Colombo, Riccardo; Luchi, Sauro; Morelli, Giovanna; Petrocelli, Paola; Iacopini, Sarah; Modica, Sara; Baroni, Silvia; Vladimiro Segala, Francesco; Menichetti, Francesco; Falcone, Marco; Tiseo, Giusy; Barbieri, Chiara; Matucci, Tommaso; Grassi, Davide; Ferri, Claudio; Marinangeli, Franco; Brancati, Francesco; Vincenti, Antonella; Borgo, Valentina; Stefania, Lombardi; Lenzi, Mirco; Antonio Di Pietro, Massimo; Vichi, Francesca; Romanin, Benedetta; Attala, Letizia; Costa, Cecilia; Gabbuti, Andrea; Roberto, Menè; Zuccon, Umberto; Vietri, Lucia; Ceri, Stefano; Pinoli, Pietro; Casprini, Patrizia; Merla, Giuseppe; Maria Squeo, Gabriella; Maffezzoni, Marcello; Bruno, Raffaele; Vecchia, Marco; Colaneri, Marta; Ludovisi, Serena; Marincevic-Zuniga, Yanara; Nordlund, Jessica; Luther, Tomas; Larsson, Anders; Hanslin Anna Gradin, Katja; Galien, Sarah; Bulow Anderberg, Sara; Rosén, Jacob; Rubertsson, Sten; Zeberg, Hugo; Frithiof, Robert; Lipcsey, Miklós; Hultström, Michael; Clohisey Peter Horby, Sara; Millar, Johnny; Knight, Julian; Montgomery, Hugh; Maslove, David; Ling, Lowell; Nichol, Alistair; Summers, Charlotte; Walsh, Tim; Hinds, Charles; Semple, Malcolm G.; Openshaw, Peter J. M.; Shankar-Hari, Manu; Ho, Antonia; Mcauley, Danny; Ponting, Chris; Rowan, Kathy; Kenneth Baillie, J.; Griffiths, Fiona; Oosthuyzen, Wilna; Meikle, Jen; Finernan, Paul; Furniss, James; Mcmaster, Ellie; Law, Andy; Clohisey, Sara; Kenneth Baillie, J.; Paterson, Trevor; Wackett, Tony; Armstrong, Ruth; Murphy, Lee; Fawkes, Angie; Clark, Richard; Coutts, Audrey; Donnelly, Lorna; Gilchrist, Tammy; Hafezi, Katarzyna; Macgillivray, Louise; Maclean, Alan; Mccafferty, Sarah; Morrice, Kirstie; Weaver, Jane; Boz, Ceilia; Golightly, Ailsa; Ward, Mari; Mal, Hanning; Szoor-McElhinney, Helen; Brown, Adam; Hendry, Ross; Stenhouse, Andrew; Cullum, Louise; Law, Dawn; Law, Sarah; Law, Rachel; Head Fourman, Max; Swets, Maaike; Day, Nicky; Taneski, Filip; Duncan, Esther; Zechner, Marie; Parkinson, Nicholas; Pairo-Castineira, Erola; Clohisey, Sara; Klaric, Lucija; Bretherick, Andrew D.; Rawlik, Konrad; Pasko, Dorota; Walker, Susan; Parkinson, Nick; Head Fourman, Max; Russell, Clark D.; Furniss, James; Richmond, Anne; Gountouna, Elvina; Harrison, David; Wang, Bo; Wu, Yang; Meynert, Alison; Kousathanas, Athanasios; Moutsianas, Loukas; Yang, Zhijian; Zhai, Ranran; Zheng, Chenqing; Grimes, Graeme; Millar, Jonathan; Shih, Barbara; Zechner, Marie; Yang, Jian; Shen, Xia; Ponting, Chris P.; Tenesa, Albert; Rowan, Kathy; Law, Andrew; Vitart, Veronique; Wilson, James F.; Kenneth Baillie, J.; Collier, D.; Wood, S.; Zak, A.; Borra, C.; Matharu, M.; May, P.; Alldis, Z.; Mitchelmore, O.; Bowles, R.; Easthorpe, A.; Bibi, F.; Lancoma-Malcolm, I.; Gurasashvili, J.; Pheby, J.; Shiel, J.; Bolton, M.; Patel, M.; Taylor, M.; Zongo, O.; Ebano, P.; Harding, P.; Astin-Chamberlain, R.; Choudhury, Y.; Cox, A.; Kallon, D.; Burton, M.; Hall, R.; Blowes, S.; Prime, Z.; Biddle, J.; Prysyazhna, O.; Newman, T.; Tierney, C.; Kassam, J.; Shankar-Hari, M.; Ostermann, M.; Campos, S.; Bociek, A.; Lim, R.; Grau, N.; Jones, T. O.; Whitton, C.; Marotti, M.; Arbane, G.; Bonner, S.; Hugill, K.; Reid, J.; Welters, I.; Waugh, V.; Williams, K.; Shaw, D.; Fernandez Roman, J.; Lopez Martinez, M.; Johnson, E.; Waite, A.; Johnson, B.; Hamilton, O.; Mulla, S.; Mcphail, M.; Smith, J.; Baillie, J. 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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
2024-01-01 Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; Null, Null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; de Voer, Richarda; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De la Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot
2024-01-01 Croci, Susanna; Carriero, Miriam Lucia; Capitani, Katia; Daga, Sergio; Donati, Francesco; Frullanti, Elisa; Lamacchia, Vittoria; Tita, Rossella; Giliberti, Annarita; Valentino, Floriana; Benetti, Elisa; Ciabattini, Annalisa; Furini, Simone; Lo Rizzo, Caterina; Pinto, Anna Maria; Conticello, Silvestro Giovanni; Renieri, Alessandra; Meloni, Ilaria
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021-01-01 Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't Hoen, Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisèle; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander; Beltran, Sergi; Graessner, Holm; Null, Null; Riess, Olaf; Haack, Tobias B.; Zurek, Birte; Ellwanger, Kornelia; Demidov, German; Sturm, Marc; Kessler, Christoph; Wayand, Melanie; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Cruz, Pedro M. Rodriguez; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
2021-01-01 Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Null, Null; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; van der Velde, Joeri K.; Vitobello, Antonio; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; Vissers, Lisenka E. L. M.; de Voer, Richarda; Null, Null; Aretz, Stefan; Capella, Gabriel; de Voer, Richarda M.; Evans, Gareth; Pelaez, Jose Garcia; Holinski-Feder, Elke; Hoogerbrugge, Nicoline; Laner, Andreas; Oliveira, Carla; Rump, Andreas; Schröck, Evelin; Sommer, Anna Katharina; Steinke-Lange, Verena; Paske, Iris te; Tischkowitz, Marc; Valle, Laura; Null, Null; Banka, Siddharth; Benetti, Elisa; Casari, Giorgio; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; de Boer, Elke; Denommé-Pichon, Anne-Sophie; Ellwanger, Kornelia; Faivre, Laurence; Graessner, Holm; Haack, Tobias B.; Hammarsjö, Anna; Havlovicova, Marketa; Hoischen, Alexander; Hugon, Anne; Jackson, Adam; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Macek, Milan; Morleo, Manuela; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Null, Null; Baets, Jonathan; Beijer, Danique; Bonne, Gisèle; Cohen, Enzo; Cossins, Judith; Evangelista, Teresinha; Ferlini, Alessandra; Hackman, Peter; Hanna, Michael G.; Horvath, Rita; Houlden, Henry; Johari, Mridul; Lau, Jarred; Lochmüller, Hanns; Macken, William L.; Musacchia, Francesco; Nascimento, Andres; Natera-de Benito, Daniel; Nigro, Vincenzo; Piluso, Giulio; Pini, Veronica; Pitceathly, Robert D. S.; Polavarapu, Kiran; Cruz, Pedro M. Rodriguez; Sarkozy, Anna; Savarese, Marco; Selvatici, Rita; Thompson, Rachel; Udd, Bjarne; Van de Vondel, Liedewei; Vandrovcova, Jana; Zaharieva, Irina; Null, Null; Baets, Jonathan; Balicza, Peter; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Houlden, Henry; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle-Freyer, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; van de Warrenburg, Bart; van Os, Nienke; Wayand, Melanie; Wilke, Carlo; Tonda, Raul; Laurie, Steven; Fernandez-Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou, Anastasios; Corvó, Alberto; Joshi, Ricky; Diez, Hector; Gut, Ivo; Hoischen, Alexander; Graessner, Holm; Beltran, Sergi; Null, Null; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; Sablauskas, Karolis; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; te Paske, Iris; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Banfi, Sandro; Torella, Annalaura; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Cruz, Pedro M. Rodriguez; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
2024-01-01 Daga, Sergio; Donati, Francesco; Capitani, Katia; Croci, Susanna; Tita, Rossella; Giliberti, Annarita; Valentino, Floriana; Benetti, Elisa; Fallerini, Chiara; Niccheri, Francesca; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Frullanti, Elisa; Furini, Simone; Conticello, Silvestro Giovanni; Renieri, Alessandra; Pinto, Anna Maria
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males
2023-01-01 Fallerini, Chiara; Daga, Sergio; Benetti, Elisa; Picchiotti, Nicola; Zguro, Kristina; Catapano, Francesca; Baroni, Virginia; Lanini, Simone; Bucalossi, Alessandro; Marotta, Giuseppe; Colombo, Francesca; Baldassarri, Margherita; Fava, Francesca; Beligni, Giada; Di Sarno, Laura; Alaverdian, Diana; Palmieri, Maria; Croci, Susanna; Isidori, Andrea M.; Furini, Simone; Frullanti, Elisa; Null, Null; Renieri, Alessandra; Mari, Francesca
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
2021-01-01 Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; Null, Null; Baets, Jonathan; Balicza, Peter; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Horvath, Rita; Houlden, Henry; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; van de Warrenburg, Bart; van Os, Nienke; Vandrovcova, Jana; Wayand, Melanie; Wilke, Carlo; van de Warrenburg, Bart; Schöls, Ludger; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graessner, Holm; Synofzik, Matthis; Null, Null; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; 't Hoen, Peter A. C.; Vissers, Lisenka E. L. M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Cruz, Pedro M. Rodriguez; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435)
2021-01-01 Doddato, G.; Valentino, F.; Giliberti, A.; Papa, F. T.; Tita, R.; Bruno, L. P.; Resciniti, S.; Fallerini, C.; Benetti, E.; Palmieri, M.; Mencarelli, M. A.; Fabbiani, A.; Bruttini, M.; Orrico, A.; Baldassarri, M.; Fava, F.; Lopergolo, D.; Rizzo, C. L.; Lamacchia, V.; Mannucci, S.; Pinto, A. M.; Curro, A.; Mancini, V.; Mari, F.; Renieri, A.; Ariani, F.
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations
2021-01-01 Valentino, F.; Bruno, L. P.; Doddato, G.; Giliberti, A.; Tita, R.; Resciniti, S.; Fallerini, C.; Bruttini, M.; Lo Rizzo, C.; Mencarelli, M. A.; Mari, F.; Pinto, A. M.; Fava, F.; Baldassarri, M.; Fabbiani, A.; Lamacchia, V.; Benetti, E.; Zguro, K.; Furini, S.; Renieri, A.; Ariani, F.
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
2021-01-01 Doddato, G; Valentino, F; Giliberti, A; Papa, Ft; Tita, R; Bruno, Lp; Resciniti, S; Fallerini, C; Benetti, E; Palmieri, M; Mencarelli, Ma; Fabbiani, A; Bruttini, M; Orrico, A; Baldassarri, M; Fava, F; Lopergolo, D; Lo Rizzo, C; Lamacchia, V; Mannucci, S; Pinto, Am; Currò, A; Mancini, V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est; Mari, F; Renieri, A; Ariani, F
Genetic mechanisms of critical illness in COVID-19
2021-01-01 Erola, Pairo-Castineira; Sara, Clohisey; Lucija, Klaric; Andrew D, Bretherick; Konrad, Rawlik; Dorota, Pasko; Susan, Walker; Nick, Parkinson; Max Head, Fourman; Clark D, Russell; James, Furniss; Anne, Richmond; Elvina, Gountouna; Nicola, Wrobel; David, Harrison; Bo, Wang; Yang, Wu; Alison, Meynert; Fiona, Griffiths; Wilna, Oosthuyzen; Athanasios, Kousathanas; Loukas, Moutsianas; Zhijian, Yang; Ranran, Zhai; Chenqing, Zheng; Graeme, Grimes; Rupert, Beale; Jonathan, Millar; Barbara, Shih; Sean, Keating; Marie, Zechner; Chris, Haley; David J, Porteous; Caroline, Hayward; Jian, Yang; Julian, Knight; Charlotte, Summers; Manu, Shankar-Hari; Paul, Klenerman; Lance, Turtle; Antonia, Ho; Shona C, Moore; Charles, Hinds; Peter, Horby; Alistair, Nichol; David, Maslove; Lowell, Ling; Danny, Mcauley; Hugh, Montgomery; Timothy, Walsh; Alexandre C, Pereira; Renieri, ; Millar, Johnny; Nichol, Alistair; Walsh, Tim; Shankar-Hari, Manu; Ponting, Chris; Meikle, Jen; Finernan, Paul; Mcmaster, Ellie; Law, Andy; Kenneth Baillie, J; Paterson, Trevor; Wackett, Tony; Armstrong, Ruth; Clark, Richard; Coutts, Audrey; Donnelly, Lorna; Gilchrist, Tammy; Hafezi, Katarzyna; Macgillivray, Louise; Maclean, Alan; Mccafferty, Sarah; Morrice, Kirstie; Weaver, Jane; Boz, Ceilia; Golightly, Ailsa; Ward, Mari; Mal, Hanning; Szoor-McElhinney, Helen; Brown, Adam; Hendry, Ross; Stenhouse, Andrew; Cullum, Louise; Law, Dawn; Law, Sarah; Law, Rachel; Swets, Maaike; Day, Nicky; Taneski, Filip; Duncan, Esther; Parkinson, Nicholas; Collier, D; Wood, S; Zak, A; Borra, C; Matharu, M; May, P; Alldis, Z; Mitchelmore, O; Bowles, R; Easthope, A; Bibi, F; Lancoma-Malcolm, I; Gurasashvili, J; Pheby, J; Shiel, J; Bolton, M; Patel, M; Taylor, M; Zongo, O; Ebano, P; Harding, P; Astin-Chamberlain, R; Choudhury, Y; Cox, A; Kallon, D; Burton, M; Hall, R; Blowes, S; Prime, Z; Biddle, J; Prysyazhna, O; Newman, T; Tierney, C; Kassam, J; Shankar-Hari, M; Ostermann, M; Campos, S; Bociek, A; Lim, R; Grau, N; O Jones, T; Whitton, C; Marotti, M; Arbane, G; Bonner, S; Hugill, K; Reid, J; Welters, I; Waugh, V; Williams, K; Shaw, D; Fernandez Roman, J; Lopez Martinez, M; Johnson, E; Waite, A; Johnston, B; Hamilton, D; Mulla, S; Mcphail, M; Smith, J; K Baillie, J; Barclay, L; Hope, D; Mcculloch, C; Mcquillan, L; Clark, S; Singleton, J; Priestley, K; Rea, N; Callaghan, M; Campbell, R; Andrew, G; Marshall, L; Mckechnie, S; Hutton, P; Bashyal, A; Davidson, N; Summers, C; Polgarova, P; Stroud, K; Pathan, N; Elston, K; Agrawal, S; Battle, C; Newey, L; Rees, T; Harford, R; Brinkworth, E; Williams, M; Murphy, C; White, I; Croft, M; Bandla, N; Gellamucho, M; Tomlinson, J; Turner, H; Davies, M; Quinn, A; Hussain, I; Thompson, C; Parker, H; Bradley, R; Griffiths, R; Scriven, J; Nilsson, A; Bates, M; Dasgin, J; Gill, J; Puxty, A; Cathcart, S; Salutous, D; Turner, L; Duffy, K; Puxty, K; Joseph, A; Herdman-Grant, R; Simms, R; Swain, A; Naranjo, A; Crowe, R; Sollesta, K; Loveridge, A; Baptista, D; Morino, E; Davey, M; Golden, D; Jones, J; Moreno Cuesta, J; Haldeos, A; Bakthavatsalam, D; Vincent, R; Elhassan, M; Xavier, K; Ganesan, A; Purohit, D; Abdelrazik, M; Morgan, J; Akeroyd, L; Bano, S; Lawton, T; Warren, D; Bromley, M; Sellick, K; Gurr, L; Wilkinson, B; Nagarajan, V; Szedlak, P; Cupitt, J; Stoddard, E; Benham, L; Preston, S; Laha, S; Slawson, N; Bradshaw, Z; Brown, J; Caswell, M; Melling, S; Bamford, P; Faulkner, M; Cawley, K; Jeffrey, H; London, E; Sainsbury, H; Nagra, I; Nasir, F; Dunmore, C; Jones, R; Abraheem, A; Al-Moasseb, M; Girach, R; Padden, G; Egan, J; Brantwood, C; Alexander, P; Bradley-Potts, J; Allen, S; Felton, T; Manna, S; Farnell-Ward, S; Leaver, S; Queiroz, J; Maccacari, E; Dawson, D; Castro Delgado, C; Pepermans Saluzzio, R; Ezeobu, O; Ding, L; Sicat, C; Kanu, R; Durrant, G; Texeira, J; Harrison, A; Samakomva, T; Scriven, J; Willis, H; Hopkins, B; Thrasyvoulou, L; Jackson, M; Zaki, A; Tibke, C; Bennett, S; Woodyatt, W; Kent, A; Goodwin, E; Brandwood, C; Clark, R; Smith, L; Rooney, K; Thomson, N; Rodden, N; Hughes, E; Mcglynn, D; Clark, C; Clark, P; Abel, L; Sundaram, R; Gemmell, L; Brett, M; Hornsby, J; Macgoey, P; Price, R; Digby, B; O'Neil, P; Mcconnell, P; Henderson, P; Henderson, S; Sim, M; Kennedy-Hay, S; Mcparland, C; Rooney, L; Baxter, N; Pogson, D; Rose, S; Daly, Z; Brimfield, L; K Phull, M; Hussain, M; Pogreban, T; Rosaroso, L; Salciute, E; Grauslyte, L; Brealey, D; Raith, E; Maccallum, N; Bercades, G; Hass, I; Smyth, D; Reyes, A; Martir, G; D Clement, I; Webster, K; Hays, C; Gulati, A; Hodgson, L; Margarson, M; Gomez, R; Baird, Y; Thirlwall, Y; Folkes, L; Butler, A; Meadows, E; Moore, S; Raynard, D; Fox, H; Riddles, L; King, K; Kimber, S; Hobden, G; Mccarthy, A; Cannons, V; Balagosa, I; Chadbourn, I; Gardner, A; Horner, D; Mclaughlanv, D; Charles, B; Proudfoot, N; Marsden, T; Mcmorrow, L; Blackledge, B; Pendlebury, J; Harvey, A; Apetri, E; Basikolo, C; Catlow, L; Doonan, R; Knowles, K; Lee, S; Lomas, D; Lyons, C; Perez, J; Poulaka, M; Slaughter, M; Slevin, K; Taylor, M; Thomas, V; Walker, D; Harris, J; Drummond, A; Tully, R; Dearden, J; Philbin, J; Munt, S; Rishton, C; O'Connor, G; Mulcahy, M; Dobson, E; Cuttler, J; Edward, M; Norris, J; Hanson, K; Poole, A; Rose, A; Sloan, B; Buckley, S; Brooke, H; Smithson, E; Charlesworth, R; Sandhu, R; Thirumaran, M; Wagstaff, V; Cebrian Suarez, J; Kaliappan, A; Vertue, M; Nicholson, A; Riches, J; Solesbury, A; Kittridge, L; Forsey, M; Maloney, G; Cole, J; Davies, M; Davies, R; Hill, H; Thomas, E; Williams, A; Duffin, D; Player, B; Radhakrishnan, J; Gibson, S; Lyle, A; Mcneela, F; Patel, B; Gummadi, M; Sloane, G; Dormand, N; Salmi, S; Farzad, Z; Cristiano, D; Liyanage, K; Thwaites, V; Varghese, M; Meredith, M; Mills, G; Willson, J; Harrington, K; Lenagh, B; Cawthron, K; Masuko, S; Raithatha, A; Bauchmuller, K; Wiles, M; Ahmad, N; Barker, J; Jackson, Y; Kibutu, F; Bird, S; Watson, G; Martin, J; Bevan, E; Wrey Brown, C; Trodd, D; English, K; Bell, G; Wilcox, L; Katary, A; Gopal, S; Lake, V; Harris, N; Metherell, S; Radford, E; Scriven, J; Moore, F; Bancroft, H; Daglish, J; Sangombe, M; Carmody, M; Rhodes, J; Bellamy, M; Garg, A; Kuravi, A; Virgilio, E; Ranga, P; Butler, J; Botfield, L; Dexter, C; Fletcher, J; Shanmugasundaram, P; Hambrook, G; Burn, I; Manso, K; Thornton, D; Tebbutt, J; Penn, R; Hulme, J; Hussain, S; Maqsood, Z; Joseph, S; Colley, J; Hayes, A; Ahmed, C; Haq, R; Clamp, S; Kumar, R; Purewal, M; Baines, B; Frise, M; Jacques, N; Coles, H; Caterson, J; Gurung Rai, S; Brunton, M; Tilney, E; Keating, L; Walden, A; Antcliffe, D; Brett, S; Gordon, A; Templeton, M; Rojo, R; Banach, D; Sousa Arias, S; Fernandez, Z; Coghlan, P; Williams, D; Jardine, C; Bewley, J; Sweet, K; Grimmer, L; Johnson, R; Garland, Z; Gumbrill, B; Phillips, C; Ortiz-Ruiz de Gordoa, L; Peasgood, E; Tridente, A; Shuker, K; Greer, S; Lynch, C; Pothecary, C; Roche, L; Deacon, B; Turner, K; Singh, J; Sera Howe, G; Paul, P; Gill, M; Wynter, I; Ratnam, V; Shelton, S; Naisbitt, J; Melville, J; Baruah, R; Morrison, S; Mcgregor, A; Parris, V; Mpelembue, M; Srikaran, S; Dennis, C; Sukha, A; Williams, A; Verlander, M; Holding, K; Riches, K; Downes, C; Swan, C; Rostron, A; Roy, A; Woods, L; Cornell, S; Wakinshaw, F; Creagh-Brown, B; Blackman, H; Salberg, A; Smith, E; Donlon, S; Mtuwa, S; Michalak-Glinska, N; Stone, S; Beazley, C; Pristopan, V; Nikitas, N; Lankester, L; Wells, C; S Raj, A; Fletcher, K; Khade, R; Tsinaslanidis, G; Macmahon, M; Fowler, S; Mcgregor, A; Coventry, T; Stewart, R; Wren, L; Mwaura, E; Mew, L; Rose, A; Scaletta, D; Williams, F; Inweregbu, K; Nicholson, A; Lancaster, N; Cunningham, M; Daniels, A; Harrison, L; Hope, S; Jones, S; Crew, A; Wray, G; Matthews, J; Crawley, R; Carter, J; Birkinshaw, I; Ingham, J; Scott, Z; Pearson, H; Howard, K; Joy, R; Roche, S; Clark, M; Purvis, S; Morrison, A; Strachan, D; Taylor, M; Clements, S; Black, K; Parmar, C; Altabaibeh, A; Simpson, K; Mostoles, L; Gilbert, K; Ma, L; Alvaro, A; Thomas, M; Faulkner, B; Worner, R; Hayes, K; Gendall, E; Blakemore, H; Borislavova, B; Goff, E; Vuylsteke, A; Mwaura, L; Zamikula, J; Garner, L; Mitchell, A; Mepham, S; Cagova, L; Fofano, A; Holcombe, H; Praman, K; Szakmany, T; E Heron, A; Cherian, S; Cutler, S; Roynon-Reed, A; Randell, G; Convery, K; Stammers, K; Fottrell-Gould, D; Hudig, L; Keshet-Price, J; Peters, M; O'Neill, L; Ray, S; Belfield, H; Mchugh, T; Jones, G; Akinkugbe, O; Tomas, A; Abaleke, E; Beech, E; Meghari, H; Yussuf, S; Bamford, A; Hairsine, B; Dooks, E; Farquhar, F; Packham, S; Bates, H; Mcparland, C; Armstrong, L; Kaye, C; Allan, A; Medhora, J; Liew, J; Botello, A; Anderson, F; Cusack, R; Golding, H; Prager, K; Williams, T; Leggett, S; Golder, K; Male, M; Jones, O; Criste, K; Marani, M; Anumakonda, V; Amin, V; Karthik, K; Kausar, R; Anastasescu, E; Reid, K; Smith, M; Hormis, A; Walker, R; Collier, D; Duncan, T; Uriel, A; Ustianowski, A; T-Michael, H; Bruce, M; Connolly, K; Smith, K; Partridge, R; Griffin, D; Mupudzi, M; Muchenje, N; Martin, D; Filipe, H; Eastgate, C; Jackson, C; Gratrix, A; Foster, L; Martinson, V; Stones, E; Abernathy, Caroline; Parkinson, P; Reed, A; Prendergast, C; Rogers, P; Woodruff, M; Shokkar, R; Kaul, S; Barron, A; Collins, C; Beavis, S; Whileman, A; Dale, K; Hawes, J; Pritchard, K; Gascoyne, R; Stevenson, L; Jha, R; Lim, L; Krishnamurthy, V; Parker, R; Turner-Bone, I; Wilding, L; Reddy, A; Whiteley, S; Wilby, E; Howcroft, C; Aspinwall, A; Charlton, S; Ogg, B; Menzies, D; Pugh, R; Allan, E; Lean, R; Davies, F; Easton, J; Qiu, X; Kumar, S; Darlington, K; Houston, G; O'Brien, P; Geary, T; Allan, J; Meikle, A; Hughes, G; Balasubramaniam, M; Latham, S; Mckenna, E; Flanagan, R; Sathe, S; Davies, E; Roche, L; Chablani, M; Kirkby, A; Netherton, K; Archer, S; Yates, B; Ashbrook-Raby, C; Cole, S; Casey, M; Cabrelli, L; Chapman, S; Hutcheon, A; Whyte, C; Almaden-Boyle, C; Pattison, N; Cruz, C; Vochin, A; Kent, H; Thomas, A; Murdoch, S; David, B; Penacerrada, M; Lubimbi, G; Bastion, V; Wulandari, R; Lorusso, R; Valentine, J; Clarke, D; Serrano-Ruiz, A; Hierons, S; Eckbad, C; Ramos, L; Demetriou, C; Mitchard, S; White, K; White, N; Pitts, S; Branney, D; Frankham, J; Watters, M; Langton, H; Prout, R; Page, V; Varghes, T; Cowton, A; Kay, A; Potts, K; Birt, M; Kent, M; Wilkinson, A; B Jude, E; Turner, V; Savill, H; Mccormick, J; Clark, M; Coulding, M; Siddiqui, S; Mercer, O; Rehman, H; Potla, D; Capps, N; Donaldson, D; Jones, J; Button, H; Martin, T; Hard, K; Agasou, A; Tonks, L; Arden, T; Boyle, P; Carnahan, M; Strickley, J; Adams, C; Childs, D; Rikunenko, R; Leigh, M; Breekes, M; Wilcox, R; Bowes, A; Tiveran, H; Hurford, F; Summers, J; Carter, A; Hussain, Y; Ting, L; Javaid, A; Motherwell, N; Moore, H; Millward, H; Jose, S; Schunki, N; Noakes, A; Clulow, C; Sadera, G; Jacob, R; Jones, C; Blunt, M; Coton, Z; Curgenven, H; Mohamed Ally, S; Beaumont, K; Elsaadany, M; Fernandes, K; Ali Mohamed Ali, I; Rangarajan, H; Sarathy, V; Selvanayagam, S; Vedage, D; White, M; Smith, M; Truman, N; Chukkambotla, S; Keith, S; Cockerill-Taylor, J; Ryan-Smith, J; Bolton, R; Springle, P; 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Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
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A first update on mapping the human genetic architecture of COVID-19 | 1-gen-2022 | Pathak, Ga; Polimanti, R; Karjalainen, J; Daly, M; Ganna, A; Daly, Mj; Stevens, C; Kanai, M; Liao, Rg; Trankiem, A; Balaconis, Mk; Nguyen, H; Solomonson, M; Veerapen, K; Ripatti, S; Nkambul, L; Bryant, S; Sankaran, Vg; Neale, Bm; Karczewski, Kj; Martin, Ar; Atkinson, Eg; Tsuo, K; Baya, N; Turley, P; Gupta, R; Walters, Rk; Palmer, Ds; Sarma, G; Cheng, N; Lu, W; Churchhouse, C; Goldstein, Ji; King, D; Zhou, W; Seed, C; Finucane, H; Satterstrom, Fk; Andrews, Sj; Sloofman, Lg; Sealfon, Sc; Hoggart, C; Underwood, Sj; Cordioli, M; Pirinen, M; Donner, K; Kivinen, K; Palotie, A; Kaunisto, M; Harerimana, N; Chwialkowska, K; Wolford, B; Roberts, G; Park, D; Ball, Ca; Coignet, M; Mccurdy, S; Knight, S; Partha, R; Rhead, B; Zhang, M; Berkowitz, N; Gaddis, M; Noto, K; Ruiz, L; Pavlovic, M; Hong, El; Rand, K; Girshick, A; Guturu, H; Baltzell, Ah; Niemi, Mek; Pigazzini, S; Rahmouni, S; Georges, M; Belhaj, Y; Guntz, J; 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Dalmau, D; Arranz, Mj; Dietl, B; Serra-Llovich, A; Soler, P; Colobran, R; Martin-Nalda, A; Martinez, Ap; Bernardo, D; Fiz-Lopez, A; Arribas, E; De La Cal-Sabater, P; Rojo, S; Segura, T; Gonzalez-Villa, E; Serrano-Heras, G; Marti-Fabregas, J; Jimenez-Xarrie, E; Mimbrera, Ad; Masjuan, J; Garcia-Madrona, S; Dominguez-Mayoral, A; Villalonga, Jm; Menendez-Valladares, P; Chasman, Di; Sesso, Hd; Manson, Je; Buring, Je; Ridker, Pm; Franco, G; Lee, S; Biesecker, L | - | |
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis | 1-gen-2021 | de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; Null, Null; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vitobello, Antonio; Rodenburg, Richard J.; Coenen, Marieke J. H.; Janssen, Mirian; Henssen, Dylan; Gilissen, Christian; Steyaert, Wouter; Paramonov, Ida; Null, Null; Banka, Siddharth; Benetti, Elisa; Casari, Giorgio; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; de Boer, Elke; Ellwanger, Kornelia; Faivre, Laurence; Graessner, Holm; Haack, Tobias B.; Hammarsjö, Anna; Havlovicova, Marketa; Hoischen, Alexander; Hugon, Anne; Jackson, Adam; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Macek, Milan; Morleo, Manuela; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Verloes, Alain; Vissers, Lisenka; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Trimouille, Aurélien; Kleefstra, Tjitske; Verloes, Alain; Vissers, Lisenka E. L. M. | - | |
AAV-mediated FOXG1 gene editing in human Rett primary cells | 1-gen-2020 | Croci, S.; Carriero, M. L.; Capitani, K.; Daga, S.; Donati, F.; Papa, F. T.; Frullanti, E.; Lopergolo, D.; Lamacchia, V.; Tita, R.; Giliberti, A.; Benetti, E.; Niccheri, F.; Furini, S.; Lo Rizzo, C.; Conticello, S. G.; Renieri, A.; Meloni, I. | - | |
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population | 1-gen-2020 | Benetti, E.; Tita, R.; Spiga, O.; Ciolfi, A.; Birolo, G.; Bruselles, A.; Doddato, G.; Giliberti, A.; Marconi, C.; Musacchia, F.; Pippucci, T.; Torella, A.; Trezza, A.; Valentino, F.; Baldassarri, M.; Brusco, A.; Asselta, R.; Bruttini, M.; Furini, S.; Seri, M.; Nigro, V.; Matullo, G.; Tartaglia, M.; Mari, F.; Frullanti, E.; Fallerini, C.; Daga, S.; Croci, S.; Amitrano, S.; Fava, F.; Montagnani, F.; Di Sarno, L.; Tommasi, A.; Palmieri, M.; Emiliozzi, A.; Fabbiani, M.; Rossetti, B.; Zanelli, G.; Bergantini, L.; D’Alessandro, M.; Cameli, P.; Bennet, D.; Anedda, F.; Marcantonio, S.; Scolletta, S.; Franchi, F.; Mazzei, M. A.; Conticini, E.; Cantarini, L.; Frediani, B.; Tacconi, D.; Feri, M.; Scala, R.; Spargi, G.; Corridi, M.; Nencioni, C.; Caldarelli, G. P.; Spagnesi, M.; Piacentini, P.; Bandini, M.; Desanctis, E.; Canaccini, A.; Spertilli, C.; Donati, A.; Guidelli, L.; Croci, L.; Verzuri, A.; Anemoli, V.; Ognibene, A.; Vaghi, M.; D’Arminio Monforte, A.; Merlini, E.; Mondelli, M. U.; Mantovani, S.; Ludovisi, S.; Girardis, M.; Venturelli, S.; Sita, M.; Cossarizza, A.; Antinori, A.; Vergori, A.; Rusconi, S.; Siano, M.; Gabrieli, A.; Riva, A.; Francisci, D.; Schiaroli, E.; Scotton, P. G.; Andretta, F.; Panese, S.; Scaggiante, R.; Parisi, S. G.; Castelli, F.; Quiros-Roldan, M. E.; Magro, P.; Minardi, C.; Castelli, D.; Polesini, I.; Della Monica, M.; Piscopo, C.; Capasso, M.; Russo, R.; Andolfo, I.; Iolascon, A.; Carella, M.; Castori, M.; Merla, G.; Aucella, F.; Raggi, P.; Marciano, C.; Perna, R.; Bassetti, M.; Di Biagio, A.; Sanguinetti, M.; Masucci, L.; Gabbi, C.; Valente, S.; Guerrini, S.; Meloni, I.; Mencarelli, M. A.; Rizzo, C. L.; Bargagli, E.; Mandalà, M.; Giorli, A.; Salerni, L.; Fiorentino, G.; Zucchi, P.; Parravicini, P.; Menatti, E.; Baratti, S.; Trotta, T.; Giannattasio, F.; Coiro, G.; Lena, F.; Coviello, D. A.; Mussini, C.; Renieri, A.; Pinto, A. M. | - | |
An explainable model of host genetic interactions linked to COVID-19 severity | 1-gen-2022 | Onoja, Anthony; Picchiotti, Nicola; Fallerini, Chiara; Baldassarri, Margherita; Fava, Francesca; Mari, Francesca; Daga, Sergio; Benetti, Elisa; Bruttini, Mirella; Palmieri, Maria; Croci, Susanna; Amitrano, Sara; Meloni, Ilaria; Frullanti, Elisa; Doddato, Gabriella; Lista, Mirjam; Beligni, Giada; Valentino, Floriana; Zguro, Kristina; Tita, Rossella; Giliberti, Annarita; Mencarelli, MARIA ANTONIETTA; LO RIZZO, Caterina; Pinto, ANNA MARIA; Ariani, Francesca; DI SARNO, Laura; Montagnani, Francesca; Tumbarello, Mario; Rancan, Ilaria; Fabbiani, Massimiliano; Rossetti, Barbara; Bergantini, Laura; D'Alessandro, Miriana; Cameli, Paolo; Bennett, David; Anedda, Federico; Marcantonio, Simona; Scolletta, Sabino; Franchi, Federico; Mazzei, MARIA ANTONIETTA; Guerrini, Susanna; Conticini, Edoardo; Cantarini, Luca; Frediani, Bruno; Tacconi, Danilo; SPERTILLI RAFFAELLI, Chiara; Feri, Marco; Donati, Alice; Scala, Raffaele; Guidelli, Luca; Spargi, Genni; Corridi, Marta; Nencioni, Cesira; Croci, Leonardo; Piero Caldarelli, Gian; Romani, Davide; Piacentini, Paolo; Bandini, Maria; Desanctis, Elena; Cappelli, Silvia; Canaccini, Anna; Verzuri, Agnese; Anemoli, Valentina; Pisani, Manola; Ognibene, Agostino; Pancrazzi, Alessandro; Lorubbio, Maria; Vaghi, Massimo; D'Arminio Monforte, Antonella; Gaia Miraglia, Federica; Bruno, Raffaele; Vecchia, Marco; Girardis, Massimo; Venturelli, Sophie; Busani, Stefano; Cossarizza, Andrea; Antinori, Andrea; Vergori, Alessandra; Emiliozzi, Arianna; Rusconi, Stefano; Siano, Matteo; Gabrieli, Arianna; Riva, Agostino; Francisci, Daniela; Schiaroli, Elisabetta; Paciosi, Francesco; Tommasi, Andrea; Zuccon, Umberto; Vietri, Lucia; Giorgio Scotton, Pier; Andretta, Francesca; Panese, Sandro; Baratti, Stefano; Scaggiante, Renzo; Gatti, Francesca; Giuseppe Parisi, Saverio; Castelli, Francesco; Quiros-Roldan, Eugenia; Degli Antoni, Melania; Zanella, Isabella; Della Monica, Matteo; Piscopo, Carmelo; Capasso, Mario; Russo, Roberta; Andolfo, Immacolata; Iolascon, Achille; Fiorentino, Giuseppe; Carella, Massimo; Castori, Marco; Aucella, Filippo; Raggi, Pamela; Perna, Rita; Bassetti, Matteo; Di Biagio, Antonio; Sanguinetti, Maurizio; Masucci, Luca; Guarnaccia, Alessandra; Valente, Serafina; DE VIVO, Oreste; Bargagli, Elena; Mandalà, Marco; Giorli, Alessia; Salerni, Lorenzo; Zucchi, Patrizia; Parravicini, Pierpaolo; Menatti, Elisabetta; Trotta, Tullio; Giannattasio, Ferdinando; Coiro, Gabriella; Lena, Fabio; Lacerenza, Gianluca; A Coviello, Domenico; Mussini, Cristina; Martinelli, Enrico; Tavecchia, Luisa; Ann Belli, Mary; Crotti, Lia; Parati, Gianfranco; Sanarico, Maurizio; Biscarini, Filippo; Stella, Alessandra; Rizzi, Marco; Maggiolo, Franco; Ripamonti, Diego; Suardi, Claudia; Bachetti, Tiziana; Teresa La Rovere, Maria; Sarzi-Braga, Simona; Bussotti, Maurizio; Capitani, Katia; Dei, Simona; Ravaglia, Sabrina; Artuso, Rosangela; Andreucci, Elena; Gori, Giulia; Pagliazzi, Angelica; Fiorentini, Erika; Perrella, Antonio; Bianchi, Francesco; Bergomi, Paola; Catena, Emanuele; Colombo, Riccardo; Luchi, Sauro; Morelli, Giovanna; Petrocelli, Paola; Iacopini, Sarah; Modica, Sara; Baroni, Silvia; Vladimiro Segala, Francesco; Menichetti, Francesco; Falcone, Marco; Tiseo, Giusy; Barbieri, Chiara; Matucci, Tommaso; Grassi, Davide; Ferri, Claudio; Marinangeli, Franco; Brancati, Francesco; Vincenti, Antonella; Borgo, Valentina; Lombardi, Stefania; Lenzi, Mirco; Antonio Di Pietro, Massimo; Vichi, Francesca; Romanin, Benedetta; Attala, Letizia; Costa, Cecilia; Gabbuti, Andrea; Menè, Roberto; Colaneri, Marta; Casprini, Patrizia; Merla, Giuseppe; Maria Squeo, Gabriella; Maffezzoni, Marcello; Mantovani, Stefania; U Mondelli, Mario; Ludovisi, Serena; Francesca, ; Francesca, Colombo; Chiaromonte, Francesca; Renieri, Alessandra; Furini, Simone; Raimondi., Francesco | - | |
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study | 1-gen-2021 | Fallerini, C.; Daga, S.; Mantovani, S.; Benetti, E.; Picchiotti, N.; Francisci, D.; Paciosi, F.; Schiaroli, E.; Baldassarri, M.; Fava, F.; Palmieri, M.; Ludovisi, S.; Castelli, F.; Quiros-Roldan, E.; Vaghi, M.; Rusconi, S.; Siano, M.; Bandini, M.; Spiga, O.; Capitani, K.; Furini, S.; Mari, F.; Valentino, F.; Doddato, G.; Giliberti, A.; Tita, R.; Amitrano, S.; Bruttini, M.; Croci, S.; Meloni, I.; Mencarelli, M. A.; Lo Rizzo, C.; Pinto, A. M.; Di Sarno, L.; Beligni, G.; Tommasi, A.; Iuso, N.; Montagnani, F.; Fabbiani, M.; Rossetti, B.; Zanelli, G.; Bargagli, E.; Bergantini, L.; D’Alessandro, M.; Cameli, P.; Bennett, D.; Anedda, F.; Marcantonio, S.; Scolletta, S.; Franchi, F.; Mazzei, M. A.; Guerrini, S.; Conticini, E.; Cantarini, L.; Frediani, B.; Tacconi, D.; Spertilli, C.; Feri, M.; Donati, A.; Scala, R.; Guidelli, L.; Spargi, G.; Corridi, M.; Nencioni, C.; Croci, L.; Caldarelli, G. P.; Spagnesi, M.; Romani, D.; Piacentini, P.; Desanctis, E.; Cappelli, S.; Canaccini, A.; Verzuri, A.; Anemoli, V.; Ognibene, A.; D’Arminio Monforte, A.; Miraglia, F. G.; Girardis, M.; Venturelli, S.; Busani, S.; Cossarizza, A.; Antinori, A.; Vergori, A.; Emiliozzi, A.; Gabrieli, A.; Riva, A.; Scotton, P. G.; Andretta, F.; Panese, S.; Scaggiante, R.; Gatti, F.; Parisi, S. G.; Baratti, S.; Antoni, M. D.; Monica, M. D.; Piscopo, C.; Capasso, M.; Russo, R.; Andolfo, I.; Iolascon, A.; Fiorentino, G.; Carella, M.; Castori, M.; Merla, G.; Squeo, G. M.; Aucella, F.; Raggi, P.; Marciano, C.; Perna, R.; Bassetti, M.; Biagio, A. D.; Sanguinetti, M.; Masucci, L.; Valente, S.; Mandalà, M.; Giorli, A.; Salerni, L.; Zucchi, P.; Parravicini, P.; Menatti, E.; Trotta, T.; Giannattasio, F.; Coiro, G.; Lena, F.; Coviello, D. A.; Mussini, C.; Bosio, G.; Martinelli, E.; Mancarella, S.; Tavecchia, L.; Gori, M.; Crotti, L.; Parati, G.; Gabbi, C.; Zanella, I.; Rizzi, M.; Maggiolo, F.; Ripamonti, D.; Bachetti, T.; Rovere, M. T. L.; Sarzi-Braga, S.; Bussotti, M.; Chiariello, M.; Belli, M. A.; Dei, S.; Renieri, A.; Mondelli, M. U.; Frullanti, E. | - | |
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age | 1-gen-2021 | Zanella, I.; Zacchi, E.; Piva, S.; Filosto, M.; Beligni, G.; Alaverdian, D.; Amitrano, S.; Fava, F.; Baldassarri, M.; Frullanti, E.; Meloni, I.; Renieri, A.; Mari, F.; Daga, S.; Benetti, E.; Furini, S.; Fallerini, C.; Valentino, F.; Doddato, G.; Giliberti, A.; Tita, R.; Bruttini, M.; Croci, S.; Pinto, A. M.; Mencarelli, M. A.; Rizzo, C. L.; Montagnani, F.; Tumbarello, M.; Rancan, I.; Sarno, L. D.; Palmieri, M.; Carriero, M. L.; Fabbiani, M.; Rossetti, B.; Bargagli, E.; Bergantini, L.; D’Alessandro, M.; Cameli, P.; Bennett, D.; Anedda, F.; Marcantonio, S.; Scolletta, S.; Franchi, F.; Mazzei, M. A.; Guerrini, S.; Conticini, E.; Cantarini, L.; Frediani, B.; Tacconi, D.; Raffaelli, C. S.; Feri, M.; Donati, A.; Scala, R.; Guidelli, L.; Spargi, G.; Corridi, M.; Nencioni, C.; Croci, L.; Caldarelli, G. P.; Spagnesi, M.; Piacentini, P.; Bandini, M.; Desanctis, E.; Cappelli, S.; Canac-Cini, A.; Verzuri, A.; Anemoli, V.; Ognibene, A.; Pancrazi, A.; Lorubbio, M.; Vaghi, M.; Monforte, A. D.; Miraglia, F. G.; Mondelli, M. U.; Bruno, R.; Marco, V.; Mantovani, S.; Ludovisi, S.; Girardis, M.; Venturelli, S.; Busani, S.; Cossarizza, A.; Antinori, A.; Vergori, A.; Emiliozzi, A.; Rusconi, S.; Siano, M.; Gabrieli, A.; Riva, A.; Francisci, D.; Schiaroli, E.; Tommasi, A.; Paciosi, F.; Scotton, P. G.; Andretta, F.; Panese, S.; Scaggiante, R.; Gatti, F.; Parisi, S. G.; Antoni, M. D.; Monica, M. D.; Piscopo, C.; Capasso, M.; Russo, R.; Andolfo, I.; Iolascon, A.; Fiorentino, G.; Carella, M.; Castori, M.; Merla, G.; Squeo, G. M.; Aucella, F.; Raggi, P.; Marciano, C.; Perna, R.; Bassetti, M.; Biagio, A. D.; Sanguinetti, M.; Masucci, L.; Valente, S.; Mandalà, M.; Giorli, A.; Salerni, L.; Zucchi, P.; Parravicini, P.; Menatti, E.; Baratti, S.; Trotta, T.; Giannattasio, F.; Coiro, G.; Lena, F.; Coviello, D. A.; Mussini, C.; Bosio, G.; Martinelli, E.; Mancarella, S.; Tavecchia, L.; Belli, M. A.; Crotti, L.; Parati, G.; Picchiotti, N.; Gori, M.; Gabbi, C.; Sanarico, M.; Ceri, S.; Pinoli, P.; Raimondi, F.; Bis-Carini, F.; Stella, A.; Rizzi, M.; Maggiolo, F.; Ripamonti, D.; Suardi, C.; Bachetti, T.; Rovere, M. T. L.; Sarzi-Braga, S.; Bussotti, M.; Capitani, K.; Zguro, K.; Dei, S.; Ravaglia, S.; Artuso, R.; Perrella, A.; Bianchi, F.; Bergomi, P.; Catena, E.; Colombo, R.; Perticaroli, V.; Gennarelli, M.; Magri, C.; Basiotto, G.; Zizioli, D.; Giliani, S.; Monti, E.; Focà, E.; Carriero, C.; Latronico, N.; Padovani, A.; Brugnoni, D.; GEVACOBA Study, Group; Castelli, F.; Quiros-Roldan, E. | - | |
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 | 1-gen-2023 | Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A.; Chandler, Kate E.; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D.; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.; Giess, A.; Griffin, J. N.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O‘donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; 't Hoen, Peter A. C.; Vissers, Lisenka E. L. M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Rodriguez Cruz, Pedro M.; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Varshney, Gaurav K.; Banka, Siddharth | - | |
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity | 1-gen-2022 | Fallerini, Chiara; Picchiotti, Nicola; Baldassarri, Margherita; Zguro, Kristina; Daga, Sergio; Fava, Francesca; Benetti, Elisa; Amitrano, Sara; Bruttini, Mirella; Palmieri, Maria; Croci, Susanna; Lista, Mirjam; Beligni, Giada; Valentino, Floriana; Meloni, Ilaria; Tanfoni, Marco; Minnai, Francesca; Colombo, Francesca; Cabri, Enrico; Fratelli, Maddalena; Gabbi, Chiara; Mantovani, Stefania; Frullanti, Elisa; Gori, Marco; Crawley, Francis P.; Butler-Laporte, Guillaume; Richards, Brent; Zeberg, Hugo; Lipcsey, Miklos; Hultström, Michael; Ludwig, Kerstin U.; Schulte, Eva C.; Pairo-Castineira, Erola; Kenneth Baillie, John; Schmidt, Axel; Frithiof, Robert; Working Group Within the HGI, Wes/wgs; Consortium, Genomicc; Multicenter Study, GEN-COVID; Mari, Francesca; Renieri &, Alessandra; Furini, Simone; Montagnani, Francesca; Tumbarello, Mario; Rancan, Ilaria; Fabbiani, Massimiliano; Rossetti, Barbara; Bergantini, Laura; D’Alessandro, Miriana; Cameli, Paolo; Bennett, David; Anedda, Federico; Marcantonio, Simona; Scolletta, Sabino; Franchi, Federico; Mazzei, MARIA ANTONIETTA; Guerrini, Susanna; Conticini, Edoardo; Cantarini, Luca; Frediani, Bruno; Tacconi, Danilo; Spertilli Raffaelli, Chiara; Feri, Marco; Donati, Alice; Scala, Raffaele; Guidelli, Luca; Spargi, Genni; Corridi, Marta; Nencioni, Cesira; Croci, Leonardo; Piero Caldarelli, Gian; Spagnesi, Maurizio; Romani, Davide; Piacentini, Paolo; Bandini, Maria; Desanctis, Elena; Cappelli, Silvia; Canaccini, Anna; Verzuri, Agnese; Anemoli, Valentina; Pisani, Manola; Ognibene, Agostino; Pancrazzi, Alessandro; Lorubbio, Maria; Vaghi, Massimo; ’Arminio Monforte, Antonella D.; Gaia Miraglia, Federica; Mondelli, Mario U.; Girardis, Massimo; Venturelli, Sophie; Busani, Stefano; Cossarizza, Andrea; Antinori, Andrea; Vergori, Alessandra; Emiliozzi, Arianna; Rusconi, Stefano; Siano, Matteo; Gabrieli, Arianna; Riva, Agostino; Francisci, Daniela; Schiaroli, Elisabetta; Paciosi, Francesco; Tommasi, Andrea; Giorgio Scotton, Pier; Andretta, Francesca; Panese, Sandro; Baratti, Stefano; Scaggiante, Renzo; Gatti, Francesca; Giuseppe Parisi, Saverio; Castelli, Francesco; Quiros-Roldan, Eugenia; Degli Antoni, Melania; Zanella, Isabella; Della Monica, Matteo; Piscopo, Carmelo; Capasso, Mario; Russo, Roberta; Andolfo, Immacolata; Iolascon, Achille; Fiorentino, Giuseppe; Carella, Massimo; Castori, Marco; Aucella, Filippo; Raggi, Pamela; Perna, Rita; Bassetti, Matteo; Di Biagio, Antonio; Sanguinetti, Maurizio; Masucci, Luca; Guarnaccia, Alessandra; Valente, Serafina; De Vivo, Oreste; Doddato, Gabriella; Tita, Rossella; Giliberti, Annarita; Antonietta Mencarelli, Maria; Lo Rizzo, Caterina; Maria Pinto, Anna; Perticaroli, Valentina; Ariani, Francesca; Lucia Carriero, Miriam; Di Sarno, Laura; Alaverdian, Diana; Bargagli, Elena; Mandalà, Marco; Giorli, Alessia; Salerni, Lorenzo; Zucchi, Patrizia; Parravicini, Pierpaolo; Menatti, Elisabetta; Trotta, Tullio; Giannattasio, Ferdinando; Coiro, Gabriella; Lena, Fabio; Gianluca Lacerenza, Leonardo; Coviello, Domenico A.; Mussini, Cristina; Martinelli, Enrico; Mancarella, Sandro; Tavecchia, Luisa; Ann Belli, Mary; Crotti, Lia; Parati, Gianfranco; Sanarico, Maurizio; Raimondi, Francesco; Biscarini, Filippo; Stella, Alessandra; Rizzi, Marco; Maggiolo, Franco; Ripamonti, Diego; Suardi, Claudia; Bachetti, Tiziana; Teresa La Rovere, Maria; Sarzi-Braga, Simona; Bussotti, Maurizio; Capitani, Katia; Dei, Simona; Ravaglia, Sabrina; Artuso, Rosangela; Andreucci, Elena; Gori, Giulia; Pagliazzi, Angelica; Fiorentini, Erika; Perrella, Antonio; Bianchi, Francesco; Bergomi, Paola; Catena, Emanuele; Colombo, Riccardo; Luchi, Sauro; Morelli, Giovanna; Petrocelli, Paola; Iacopini, Sarah; Modica, Sara; Baroni, Silvia; Vladimiro Segala, Francesco; Menichetti, Francesco; Falcone, Marco; Tiseo, Giusy; Barbieri, Chiara; Matucci, Tommaso; Grassi, Davide; Ferri, Claudio; Marinangeli, Franco; Brancati, Francesco; Vincenti, Antonella; Borgo, Valentina; Stefania, Lombardi; Lenzi, Mirco; Antonio Di Pietro, Massimo; Vichi, Francesca; Romanin, Benedetta; Attala, Letizia; Costa, Cecilia; Gabbuti, Andrea; Roberto, Menè; Zuccon, Umberto; Vietri, Lucia; Ceri, Stefano; Pinoli, Pietro; Casprini, Patrizia; Merla, Giuseppe; Maria Squeo, Gabriella; Maffezzoni, Marcello; Bruno, Raffaele; Vecchia, Marco; Colaneri, Marta; Ludovisi, Serena; Marincevic-Zuniga, Yanara; Nordlund, Jessica; Luther, Tomas; Larsson, Anders; Hanslin Anna Gradin, Katja; Galien, Sarah; Bulow Anderberg, Sara; Rosén, Jacob; Rubertsson, Sten; Zeberg, Hugo; Frithiof, Robert; Lipcsey, Miklós; Hultström, Michael; Clohisey Peter Horby, Sara; Millar, Johnny; Knight, Julian; Montgomery, Hugh; Maslove, David; Ling, Lowell; Nichol, Alistair; Summers, Charlotte; Walsh, Tim; Hinds, Charles; Semple, Malcolm G.; Openshaw, Peter J. M.; Shankar-Hari, Manu; Ho, Antonia; Mcauley, Danny; Ponting, Chris; Rowan, Kathy; Kenneth Baillie, J.; Griffiths, Fiona; Oosthuyzen, Wilna; Meikle, Jen; Finernan, Paul; Furniss, James; Mcmaster, Ellie; Law, Andy; Clohisey, Sara; Kenneth Baillie, J.; Paterson, Trevor; Wackett, Tony; Armstrong, Ruth; Murphy, Lee; Fawkes, Angie; Clark, Richard; Coutts, Audrey; Donnelly, Lorna; Gilchrist, Tammy; Hafezi, Katarzyna; Macgillivray, Louise; Maclean, Alan; Mccafferty, Sarah; Morrice, Kirstie; Weaver, Jane; Boz, Ceilia; Golightly, Ailsa; Ward, Mari; Mal, Hanning; Szoor-McElhinney, Helen; Brown, Adam; Hendry, Ross; Stenhouse, Andrew; Cullum, Louise; Law, Dawn; Law, Sarah; Law, Rachel; Head Fourman, Max; Swets, Maaike; Day, Nicky; Taneski, Filip; Duncan, Esther; Zechner, Marie; Parkinson, Nicholas; Pairo-Castineira, Erola; Clohisey, Sara; Klaric, Lucija; Bretherick, Andrew D.; Rawlik, Konrad; Pasko, Dorota; Walker, Susan; Parkinson, Nick; Head Fourman, Max; Russell, Clark D.; Furniss, James; Richmond, Anne; Gountouna, Elvina; Harrison, David; Wang, Bo; Wu, Yang; Meynert, Alison; Kousathanas, Athanasios; Moutsianas, Loukas; Yang, Zhijian; Zhai, Ranran; Zheng, Chenqing; Grimes, Graeme; Millar, Jonathan; Shih, Barbara; Zechner, Marie; Yang, Jian; Shen, Xia; Ponting, Chris P.; Tenesa, Albert; Rowan, Kathy; Law, Andrew; Vitart, Veronique; Wilson, James F.; Kenneth Baillie, J.; Collier, D.; Wood, S.; Zak, A.; Borra, C.; Matharu, M.; May, P.; Alldis, Z.; Mitchelmore, O.; Bowles, R.; Easthorpe, A.; Bibi, F.; Lancoma-Malcolm, I.; Gurasashvili, J.; Pheby, J.; Shiel, J.; Bolton, M.; Patel, M.; Taylor, M.; Zongo, O.; Ebano, P.; Harding, P.; Astin-Chamberlain, R.; Choudhury, Y.; Cox, A.; Kallon, D.; Burton, M.; Hall, R.; Blowes, S.; Prime, Z.; Biddle, J.; Prysyazhna, O.; Newman, T.; Tierney, C.; Kassam, J.; Shankar-Hari, M.; Ostermann, M.; Campos, S.; Bociek, A.; Lim, R.; Grau, N.; Jones, T. O.; Whitton, C.; Marotti, M.; Arbane, G.; Bonner, S.; Hugill, K.; Reid, J.; Welters, I.; Waugh, V.; Williams, K.; Shaw, D.; Fernandez Roman, J.; Lopez Martinez, M.; Johnson, E.; Waite, A.; Johnson, B.; Hamilton, O.; Mulla, S.; Mcphail, M.; Smith, J.; Baillie, J. K.; Barclay, L.; Hope, D.; Mcculloch, C.; Mcquillan, L.; Clark, S.; Singleton, J.; Priestley, K.; Rea, N.; Callaghan, M.; Campbell, R.; Andrew, G.; Marshall, L.; Mckechnie, S.; Hutton, P.; Bashyal, A.; Davidson, N.; Summers, C.; Polgarova, P.; Stroud, K.; Pathan, N.; Elston, K.; Agrawal, S.; Battle, C.; Newey, L.; Rees, T.; Harford, R.; Brinkworth, E.; Williams, M.; Murphy, C.; White, I.; Croft, M.; Bandla, N.; Gellamucho, M.; Tomlinson, J.; Turner, H.; Davies, M.; Quinn, A.; Hussain, I.; Thompson, C.; Parker, H.; Bradley, R.; Griffiths, R.; Scriven, J.; Gill, J.; Puxty, A.; Cathcart, S.; Salutous, D.; Turner, L.; Duffy, K.; Puxty, K.; Joseph, A.; Herdman-Grant, R.; Simms, R.; Swain, A.; Naranjo, A.; Crowe, R.; Sollesta, K.; Loveridge, A.; Baptista, D.; Morino, E.; Davey, M.; Golden, D.; Jones, J.; Moreno Cuesta, J.; Haldeos, A.; Bakthavatsalam, D.; Vincent, R.; Elhassan, M.; Xavier, K.; Ganesan, A.; Purohit, D.; Abdelrazik, M.; Morgan, J.; Akeroyd, L.; Bano, S.; Warren, D.; Bromley, M.; Sellick, K.; Gurr, L.; Wilkinson, B.; Nagarajan, V.; Szedlak, P.; Cupitt, J.; Stoddard, E.; Benham, L.; Preston, S.; Slawson, N.; Bradshaw, Z.; Brown, J.; Caswell, M.; Smelling, ; Bamford, P.; Faulkner, M.; Cawley, K.; Jeffrey, H.; London, E.; Sainsbury, H.; Nagra, I.; Nasir, F.; Dunmore, Ce; Jones, R.; Abraheem, A.; Al-Moasseb, M.; Girach, R.; Brantwood, C.; Alexander, P.; Bradley-Potts, J.; Allen, S.; Felton, T.; Manna, S.; Farnell-Ward, S.; Leaver, S.; Queiroz, J.; Maccacari, E.; Dawson, D.; Castro Delgado, C.; Pepermans Saluzzio, R.; Ezeobu, O.; Ding, L.; Sicat, C.; Kanu, R.; Durrant, G.; Texeira, J.; Harrison, A.; Samakomva, T.; Scriven, J.; Willis, H.; Hopkins, B.; Thrasyvoulou, L.; Jackson, M.; Zaki, A.; Tibke, C.; Bennett, S.; Woodyatt, W.; Kent, A.; Goodwin, E.; Brandwood, C.; Clark, R.; Smith, L.; Rooney, K.; Thomson, N.; Rodden, N.; Hughes, E.; Mcglynn, D.; Clark, C.; Clark, P.; Abel, L.; Sundaram, R.; Gemmell, L.; Brett, M.; Hornsby, J.; Macgoey, P.; Price, R.; Digby, B.; O’Neil, P.; Mcconnell, P.; Henderson, P.; Henderson, S.; Sim, M.; Kennedy-Hay, S.; Mcparland, C.; Rooney, L.; Baxter, N.; Pogson, D.; Rose, S.; Daly, Z.; Brimfield, L.; Phull, M. K.; Hussain, M.; Pogreban, T.; Rosaroso, L.; Grauslyte, E. Salciute L.; Brealey, D.; Wraith, E.; Maccallum, N.; Bercades, G.; Hass, I.; Smyth, D.; Reyes, A.; Martir, G.; Clement, I. D.; Webster, K.; Hays, C.; Gulati, A.; Hodgson, L.; Margarson, M.; Gomez, R.; Baird, Y.; Thirlwall, Y.; Folkes, L.; Butler, A.; Meadows, E.; Moore, S.; Raynard, D.; Fox, H.; Riddles, L.; King, K.; Kimber, S.; Hobden, G.; Mccarthy, A.; Cannons, V.; Balagosa, I.; Chadbourn, I.; Gardner, A.; Horner, D.; Mclaughlanv, D.; Charles, B.; Proudfoot, N.; Marsden, T.; Mc Morrow, L.; Blackledge, B.; Pendlebury, J.; Harvey, A.; Apetri, E.; Basikolo, C.; Catlow, L.; Doonan, R.; Knowles, K.; Lee, S.; Lomas, D.; Lyons, C.; Perez, J.; Poulaka, M.; Slaughter, M.; Slevin, K.; Taylor, M.; Thomas, V.; Walker, D.; Harris, J.; Drummond, A.; Tully, R.; Dearden, J.; Philbin, J.; Munt, S.; Rishton, C.; O’Connor, G.; Mulcahy, M.; Dobson, E.; Cuttler, J.; Edward, M.; Rose, A.; Sloan, B.; Buckley, S.; Brooke, H.; Smithson, E.; Charlesworth, R.; Sandu, R.; Thirumaran, M.; Wagstaff, V.; Cebrian Suarez, J.; Kaliappan, A.; Vertue, M.; Nicholson, A.; Riches, J.; Solesbury, A.; Kittridge, L.; Forsey, M.; Maloney, G.; Cole, J.; Davies, M.; Davies, R.; Hill, H.; Thomas, E.; Williams, A.; Duffin, D.; Player, B.; Radhakrishnan, J.; Gibson, S.; Lyle, A.; Mcneela, F.; Patel, B.; Gummadi, M.; Sloane, G.; Dormand, N.; Salmi, S.; Farzad, Z.; Cristiano, D.; Liyanage, K.; Thwaites, V.; Varghese, M.; Meredith, M.; Mills, G.; Willson, J.; Harrington, K.; Lenagh, B.; Cawthron, K.; Masuko, S.; Raithatha, A.; Bauchmuller, K.; Ahmad, N.; Barker, J.; Jackson, Y.; Kibutu, F.; Bird, S.; Watson, G.; Martin, J.; Bevan, E.; Wrey Brown, C.; Trodd, D.; English, K.; Bell, G.; Wilcox, L.; Katary, A.; Gopal, S.; Lake, V.; Harris, N.; Metherell, S.; Radford, E.; Scriven, J.; Moore, F.; Bancroft, H.; Daglish, J.; Sangombe, M.; Carmody, M.; Rhodes, J.; Bellamy, M.; Garg, A.; Kuravi, A.; Virgilio, E.; Ranga, P.; Butler, J.; Botfield, L.; Dexter, C.; Fletcher, J.; Shanmugasundaram, P.; Hambrook, G.; Burn, I.; Manso, K.; Thornton, D.; Tebbutt, J.; Penn, R.; Hulme, J.; Hussain, S.; Maqsood, Z.; Joseph, S.; Colley, J.; Hayes, A.; Ahmed, C.; Haque, R.; Clamp, S.; Kumar, R.; Purewal, M.; Baines, B.; Frise, M.; Jacques, N.; Coles, H.; Caterson, J.; Gurung Rai, S.; Brunton, M.; Tilney, E.; Keating, L.; Walden, A.; Antcliffe, D.; Gordon, A.; Templeton, M.; Rojo, R.; Banach, D.; Sousa Arias, S.; Fernandez, Z.; Coghlan, P.; Williams, D.; Jardine, C.; Bewley, J.; Sweet, K.; Grimmer, L.; Johnson, R.; Garland, Z.; Gumbrill, B.; Phillips, C.; Ortiz-Ruiz de Gordoa, L.; Peasgood, E.; Tridente, A.; Greer, K. Shuker S.; Lynch, C.; Pothecary, C.; Roche, L.; Deacon, B.; Turner, K.; Singh, J.; Sera Howe, G.; Paul, P.; Gill, M.; Wynter, I.; Ratnam, V.; Shelton, S.; Naisbitt, J.; Melville, J.; Baruah, R.; Morrison, S.; Mcgregor, A.; Parris, V.; Mpelembue, M.; Srikaran, S.; Dennis, C.; Sukha, A.; Williams, A.; Verlande, M.; Holding, K.; Riches, K.; Downes, C.; Swan, C.; Rostron, A.; Roy, A.; Woods, L.; Cornell, S.; Wakinshaw, F.; Creagh-Brown, B.; Blackman, H.; Salberg, A.; Smith, E.; Donlon, S.; Mtuwa, S.; Michalak-Glinska, N.; Stone, S.; Beazley, C.; Pristopan, V.; Nikitas, N.; Lankester, L.; Wells, C.; Raj, A. S.; Fletcher, K.; Khade, R.; Tsinaslanidis, G.; Mcmahon, M.; Fowler, S.; Mcgregor, A.; Coventry, T.; Stewart, R.; Wren, L.; Mwaura, E.; Mew, L.; Rose, A.; Scaletta, D.; Williams, F.; Inweregbu, K.; Nicholson, A.; Lancaster, N.; Cunningham, M.; Daniels, A.; Harrison, L.; Hope, S.; Jones, S.; Crew, A.; Wray, G.; Matthews, J.; Crawley, R.; Carter, J.; Birkinshaw, I.; Ingham, J.; Scott, Z.; Howard, K.; Joy, R.; Roche, S.; Clark, M.; Purvis, S.; Morrison, A.; Strachan, D.; Taylor, M.; Clements, S.; Black, K.; Parmar, C.; Altabaibeh, A.; Simpson, K.; Mostoles, L.; Gilbert, K.; Ma, L.; Alvaro, A.; Thomas, M.; Faulkner, B.; Worner, R.; Hayes, K.; Gendall, E.; Blakemore, H.; Borislavova, B.; Goff, E.; Vuylsteke, A.; Mwaura, L.; Zamikula, J.; Garner, L.; Mitchell, A.; Mepham, S.; Cagova, L.; Fofano, A.; Holcombe, H.; Praman, K.; Szakmany, T.; Heron, A. E.; Cherian, S.; Cutler, S.; Roynon-Reed, A.; Randell, G.; Convery, K.; Fottrell-Gould, K. Stammers D.; Hudig, L.; Keshet-price, J.; Peters, M.; O’Neill, L.; Ray, S.; Belfield, H.; Mchugh, T.; Jones, G.; Akinkugbe, O.; Tomas, A.; Abaleke, E.; Beech, E.; Meghari, H.; Yussuf, S.; Bamford, A.; Hairsine, B.; Dooks, E.; Farquhar, F.; Packham, S.; Bates, H.; Mcparland, C.; Armstrong, L.; Kaye, C.; Allan, A.; Medhora, J.; Liew, J.; Botello, A.; Anderson, F.; Cusack, R.; Golding, H.; Prager, K.; Williams, T.; Leggett, S.; Golder, K.; Male, M.; Jones, O.; Criste, K.; Marani, M.; Anumakonda, V.; Amin, V.; Karthik, K.; Kausar, R.; Anastasescu, E.; Reid, K.; Jacqui, M.; Hormis, A.; Walker, R.; Collier, D.; Duncan, T.; Uriel, A.; Ustianowski, A.; T-Michael, H.; Bruce, M.; Connolly, K.; Smith, K.; Partridge, R.; Griffin, D.; Mcdonald, M.; Muchenje, N.; Martin, D.; Filipe, H.; Eastgate, C.; Jackson, C.; Gratrix, A.; Foster, L.; Martinson, V.; Stones, E.; Abernathy, Caroline; Parkinson, P.; Reed, A.; Prendergast, C.; Rogers, P.; Woodruff, M.; Shokkar, R.; Kaul, S.; Barron, A.; Collins, C.; Beavis, S.; Whileman, A.; Dale, K.; Hawes, J.; Pritchard, K.; Gascoyne, R.; Stevenson, L.; Jha, R.; Lim, L.; Krishnamurthy, V.; Parker, R.; Turner-Bone, I.; Wilding, L.; Reddy, A.; Whiteley, S.; Wilby, E.; Howcroft, C.; Aspinwall, A.; Charlton, S.; Ogg, B.; Menzies, D.; Pugh, R.; Allan, E.; Lean, R.; Davies, F.; Easton, J.; Qiu, X.; Kumar, S.; Darlington, K.; Houston, G.; O’Brien, P.; Geary, T.; Allan, J.; Meikle, A.; Hughes, G.; Balasubramaniam, M.; Latham, S.; Mckenna, E.; Flanagan, R.; Sathe, S.; Davies, E.; Roche, L.; Chablani, M.; Kirkby, A.; Netherton, K.; Archer, S.; Yates, B.; Ashbrook-Raby, C.; Cole, S.; Casey, M.; Cabrelli, L.; Chapman, S.; Casey, M.; Austin, P.; Hutcheon, A.; Whyte, C.; Almaden-Boyle, C.; Pattison, N.; Cruz, C.; Vochin, A.; Kent, H.; Thomas, A.; Murdoch, S.; David, B.; Penacerrada, M.; Lubimbi, G.; Bastion, V.; Wulandari, R.; Valentine, J.; Clarke, D.; Serrano-Ruiz, A.; Hierons, S.; Ramos, L.; Demetriou, C.; Mitchard, S.; White, K.; White, N.; Pitts, S.; Branney, D.; Frankham, J.; Watters, M.; Langton, H.; Prout, R.; Page, V.; Varghes, T.; Cowton, A.; Kay, A.; Potts, K.; Birt, M.; Kent, M.; Wilkinson, A.; Jude, E.; Turner, V.; Savill, H.; Mccormick, J.; Clark, M.; Coulding, M.; Siddiqui, S.; Mercer, O.; Rehman, H.; Potla, D.; Capps, N.; Donaldson, D.; Jones, J.; Button, H.; Martin, T.; Hard, K.; Agasou, A.; Tonks, L.; Arden, T.; Boyle, P.; Carnahan, M.; Strickley, J.; Adams, C.; Childs, D.; Rikunenko, R.; Leigh, M.; Breekes, M.; Wilcox, R.; Bowes, A.; Tiveran, H.; Hurford, F.; Summers, J.; Carter, A.; Hussain, Y.; Ting, L.; Javaid, A.; Motherwell, N.; Moore, H.; Millward, H.; Jose, S.; Schunki, N.; Noakes, A.; Clulow, C.; Sadera, G.; Jacob, R.; Jones, C.; Blunt, M.; Coton, Z.; Curgenven, H.; Mohamed Ally, S.; Beaumont, K.; Elsaadany, M.; Fernandes, K.; Ali Mohamed Ali, I.; Rangarajan, H.; Sarathy, V.; Selvanayagam, S.; Vedage, D.; White, M.; Smith, M.; Truman, N.; Chukkambotla, S.; Keith, S.; Cockerill-Taylor, J.; Ryan-Smith, J.; Bolton, R.; Springle, P.; Dykes, J.; Thomas, J.; Khan, M.; Hijazi, M. T.; Massey, E.; Croston, G.; Reschreiter, H.; Camsooksai, J.; Patch, S.; Jenkins, S.; Humphrey, C.; Wadams, B.; Camsooksai, J.; Bhatia, N.; Msiska, M.; Adanini, O.; Attwood, B.; Parsons, P.; Tatham, K.; Jhanji, S.; Black, E.; Dela Rosa, A.; Howle, R.; Thomas, B.; Bemand, T.; Raobaikady, R.; Saha, R.; Staines, N.; Daniel, A.; Finn, J.; Hutter, J.; Doble, P.; Shovelton, C.; Pawley, C.; Kannan, T.; Hill, M.; Combes, E.; Monnery, S.; Joefield, T.; Popescu, M.; Thankachen, M.; Oblak, M.; Little, J.; Mcivor, S.; Brady, A.; Whittle, H.; Prady, H.; Chan, R.; Ahmed, A.; Morris, A.; Gibson, C.; Gordon, E.; Keenan, S.; Quinn, H.; Benyon, S.; Marriott, S.; Zitter, L.; Park, L.; Baines, K.; Lyons, M.; Holland, M.; Keenan, N.; Young, M.; Garrioch, S.; Dawson, J.; Tolson, M.; Scholefield, B.; Bi, R.; Richardson, N.; Schumacher, N.; Cosier, T.; Millen, G.; Higham, A.; Simpson, K.; Turki, S.; Allen, L.; Crisp, N.; Hazleton, T.; Knight, A.; Deery, J.; Price, C.; Turney, S.; Tilbey, S.; Beranova, E.; Wright, D.; Georg, L.; Twiss, S.; Cowton, A.; Wadd, S.; Postlethwaite, K.; Gondo, P.; Masunda, B.; Kayani, A.; Hadebe, B.; Whiteside, J.; Campbell, R.; Clarke, N.; Donnison, P.; Trim, F.; Leadbitter, I.; Butcher, D.; O’Sullivan, S.; Purewal, B.; Bell, S.; Rivers’, V.; O’Leary, R.; Birch, J.; Collins, E.; Anderson, S.; Hammerton, K.; Andrews, E.; Higham, A.; Burns, K.; Edmond, I.; Salutous, D.; Todd, A.; Donnachie, J.; Turner, P.; Prentice, L.; Symon, L.; Runciman, N.; Auld, F.; Halkes, M.; Mercer, P.; Thornton, L.; Debreceni, G.; Wilkins, J.; Brown, A.; Crickmore, V.; Subramanian, G.; Marshall, R.; Jennings, C.; Latif, M.; Bunni, L.; Spivey, M.; Bean, S.; Burt, K.; Linnett, V.; Ritzema, J.; Sanderson, A.; Mccormick, W.; Bokhari, M.; Kapoor, R.; Loader, D.; Ayers, A.; Harrison, W.; North, J.; Belagodu, Z.; Parasomthy, R.; Olufuwa, O.; Gherman, A.; Fuller, B.; Stuart, C.; Kelsall, O.; Davis, C.; Wild, L.; Wood, H.; Thrush, J.; Durie, A.; Austin’, K.; Archer, K.; Anderson, P.; Vigurs, C.; Thorpe, C.; Thomas, A.; Knights, E.; Boyle, N.; Price, A.; Kubisz-Pudelko, A.; Wood, D.; Lewis, A.; Board, S.; Pippard, L.; Perry, J.; Beesley, K.; Rattray, A.; Taylor, M.; Lee, E.; Lennon, L.; Douglas, K.; Bell, D.; Boyle, R.; Glass, L.; Nauman Akhtar, M.; Dent, K.; Potoczna, D.; Pearson, S.; Horsley, E.; Spencer, S.; Phillips, C.; Mullan, D.; Skinner, D.; Gaylard, J.; Ortiz-Ruizdegordoa, L.; Barber, R.; Hewitt, C.; Hilldrith, A.; Shepardson, S.; Wills, M.; Jackson-Lawrence, K.; Gupta, A.; Easthope, A.; Timlick, E.; Gorman, C.; Otaha, I.; Gales, A.; Coetzee, S.; Raj, M.; Peiu, M.; Parris, V.; Quaid, S.; Watson, E.; Elliott, K.; Mallinson, J.; Chandler, B.; Turnbull, A.; Quinn, A.; Finch, C.; Holl, C.; Cooper, J.; Evans., A.; Khaliq, W.; Collins, A.; Treus Gude, E.; Love, N.; van Koutrik, L.; Hunt, J.; Kaye, D.; Fisher, E.; Brayne, A.; Tuckey, V.; Jackson, P.; Parkin, J.; Brealey, D.; Raith, E.; Tariq, A.; Houlden, H.; Tucci, A.; Hardy, J.; Moncur, E.; Highgate, J.; Cowley, A.; Mitra, A.; Stead, R.; Behan, T.; Burnett, C.; Newton, M.; Heeney, E.; Pollard, R.; Hatton, J.; Patel, A.; Kasipandian, V.; Allibone, S.; Genetu, R. M.; Otahal, I.; O’Brien, L.; Omar, Z.; Perkins, E.; Davies, K.; Tetla, D.; Pothecary, C.; Deacon, B.; Shelley, B.; Irvine, V.; Williams, S.; Williams, P.; Birch, J.; Goodsell, J.; Tutton, R.; Bough, L.; Winter-Goodwin, B.; Kitson, R.; Pinnell, J.; Wilson, A.; Nortcliffe, T.; Wood, T.; Home, M.; Holdroyd, K.; Robinson, M.; Shaw, R.; Greig, J.; Brady, M.; Haigh, A.; Matupe, L.; Usher, M.; Mellor, S.; Dale, S.; Gledhill, L.; Shaw, L.; Turner, G.; Kelly, D.; Anwar, B.; Riley, H.; Sturgeon, H.; Ali, A.; Thomis, L.; Melia, D.; Dance, A.; Hanson, K.; Humphreys, S.; Frost, I.; Gopal, V.; Godden, J.; Holden, A.; Swann, S.; Smith, T.; Clapham, M.; Poultney, U.; Harper, R.; Rice, P.; Khaliq, W.; Reece-Anthony, R.; Gurung, B.; Moultrie, S.; Odam, M.; Mayer, A.; Bellini, A.; Pickard, A.; Bryant, J.; Roe, N.; Sowter, J.; Butcher, D.; Lang, K.; Taylor, J.; Barry, P.; Hobrok, M.; Tench, H.; Wolf-Roberts, R.; Mcguinness, H.; Loosley, R.; Hawcutt, D.; Rad, L.; O’Malley, L.; Saunderson, P.; Seddon, G.; Anderson, T.; Rogers, N.; Ruddy, J.; Harkins, M.; Taylor, M.; Beith, C.; Mcalpine, A.; Ferguson, L.; Grant, P.; Macfadyen, S.; Mclaughlin, M.; Baird, T.; Rundell, S.; Glass, L.; Welsh, B.; Hamill, R.; Fisher, F.; Smith, T.; Gregory, J.; Brown, A.; Schmidt, Axel; Ludwig, Kerstin U.; Rolker, Selina; Nöthen, Markus M.; Fazaal, Julia; Keitel, Verena; Jensen, Björn; Feldt, Torsten; Knopp, Lisa; Schröder, Julia; Maj, Carlo; Brand, Fabian; Berger, Marc M.; Brenner, Thorsten; Hinney, Anke; Witzke, Oliver; Bals, Robert; Herr, Christian; Ludwig, Nicole; Walter, Jörn; Schneider, Jochen; Erber, Johanna; Spinner, Christoph D.; Wendtner, Clemens M.; Winter, Christof; Protzer, Ulrike; Casadei, Nicolas; Ossowski, Stephan; Riess, Olaf H.; Schulte, Eva C.; Brent Richards, J.; Butler-Laporte, Guillaume; Kwasniewski, Mirosław; Korotko, Urszula; Chwialkowska, Karolina; Niemira, Magdalena; Jaroszewicz, Jerzy; Sobala-Szczygiel, Barbara; Puzanowska, Beata; Parfieniuk-Kowerda, Anna; Martonik, Diana; Moniuszko-Malinowska, Anna; Pancewicz, Sławomir; Zarębska-Michaluk, Dorota; Simon, Krzysztof; Pazgan-Simon, Monika; Mozer-Lisewska, Iwona; Bura, Maciej; Adamek, Agnieszka; Tomasiewicz Małgorzata Pawłowska, Krzysztof; Piekarska, Anna; Berkan-Kawinska, Aleksandra; Horban, Andrzej; Kowalska, Justyna; Podlasin, Regina; Wasilewski, Piotr; Azzadin, Arsalin; Czuczwar, Miroslaw; Czaban, Slawomir; Olszewski, Paweł; Bogocz, Jacek; Ochab, Magdalena; Kruk, Anna; Uszok, Sandra; Bielska, Agnieszka; Szałkowska, Anna; Raczkowska, Justyna; Sokołowska, Gabriela; Chorostowska-Wynimko, Joanna; Jezela-Stanek, Aleksandra; Roży, Adriana; Lechowicz, Urszula; Polowianiuk, Urszula; Grubczak, Kamil; Starosz, Aleksandra; Eljaszewicz, Andrzej; Izdebska, Wiktoria; Krętowski, Adam; Flisiak, Robert; Moniuszko, Marcin; Abedalthagafi Manal Alaamery, Malak; Massadeh, Salam; Fawzy, Mohamed; Albardis, Hadeel; Aljawini, Nora; Alsuwailm, Moneera; Almalki, Faisal; Mangul, Serghei; Jung, Junghyun; Mbarek, Hamdi; Saad, Chadi; Al-Sarraj, Yaser; Al-Muftah, Wadha; Badji, Radja; Al Thani &, Asma; Ismail, Said I. | - | |
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | 1-gen-2024 | Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; Null, Null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; de Voer, Richarda; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De la Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven | - | |
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot | 1-gen-2024 | Croci, Susanna; Carriero, Miriam Lucia; Capitani, Katia; Daga, Sergio; Donati, Francesco; Frullanti, Elisa; Lamacchia, Vittoria; Tita, Rossella; Giliberti, Annarita; Valentino, Floriana; Benetti, Elisa; Ciabattini, Annalisa; Furini, Simone; Lo Rizzo, Caterina; Pinto, Anna Maria; Conticello, Silvestro Giovanni; Renieri, Alessandra; Meloni, Ilaria | - | |
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases | 1-gen-2021 | Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't Hoen, Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisèle; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander; Beltran, Sergi; Graessner, Holm; Null, Null; Riess, Olaf; Haack, Tobias B.; Zurek, Birte; Ellwanger, Kornelia; Demidov, German; Sturm, Marc; Kessler, Christoph; Wayand, Melanie; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Cruz, Pedro M. Rodriguez; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas | - | |
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data | 1-gen-2021 | Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Null, Null; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; van der Velde, Joeri K.; Vitobello, Antonio; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; Vissers, Lisenka E. L. M.; de Voer, Richarda; Null, Null; Aretz, Stefan; Capella, Gabriel; de Voer, Richarda M.; Evans, Gareth; Pelaez, Jose Garcia; Holinski-Feder, Elke; Hoogerbrugge, Nicoline; Laner, Andreas; Oliveira, Carla; Rump, Andreas; Schröck, Evelin; Sommer, Anna Katharina; Steinke-Lange, Verena; Paske, Iris te; Tischkowitz, Marc; Valle, Laura; Null, Null; Banka, Siddharth; Benetti, Elisa; Casari, Giorgio; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; de Boer, Elke; Denommé-Pichon, Anne-Sophie; Ellwanger, Kornelia; Faivre, Laurence; Graessner, Holm; Haack, Tobias B.; Hammarsjö, Anna; Havlovicova, Marketa; Hoischen, Alexander; Hugon, Anne; Jackson, Adam; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Macek, Milan; Morleo, Manuela; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Null, Null; Baets, Jonathan; Beijer, Danique; Bonne, Gisèle; Cohen, Enzo; Cossins, Judith; Evangelista, Teresinha; Ferlini, Alessandra; Hackman, Peter; Hanna, Michael G.; Horvath, Rita; Houlden, Henry; Johari, Mridul; Lau, Jarred; Lochmüller, Hanns; Macken, William L.; Musacchia, Francesco; Nascimento, Andres; Natera-de Benito, Daniel; Nigro, Vincenzo; Piluso, Giulio; Pini, Veronica; Pitceathly, Robert D. S.; Polavarapu, Kiran; Cruz, Pedro M. Rodriguez; Sarkozy, Anna; Savarese, Marco; Selvatici, Rita; Thompson, Rachel; Udd, Bjarne; Van de Vondel, Liedewei; Vandrovcova, Jana; Zaharieva, Irina; Null, Null; Baets, Jonathan; Balicza, Peter; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Houlden, Henry; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle-Freyer, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; van de Warrenburg, Bart; van Os, Nienke; Wayand, Melanie; Wilke, Carlo; Tonda, Raul; Laurie, Steven; Fernandez-Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou, Anastasios; Corvó, Alberto; Joshi, Ricky; Diez, Hector; Gut, Ivo; Hoischen, Alexander; Graessner, Holm; Beltran, Sergi; Null, Null; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; Sablauskas, Karolis; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; te Paske, Iris; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Banfi, Sandro; Torella, Annalaura; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Cruz, Pedro M. Rodriguez; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas | - | |
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells | 1-gen-2024 | Daga, Sergio; Donati, Francesco; Capitani, Katia; Croci, Susanna; Tita, Rossella; Giliberti, Annarita; Valentino, Floriana; Benetti, Elisa; Fallerini, Chiara; Niccheri, Francesca; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Frullanti, Elisa; Furini, Simone; Conticello, Silvestro Giovanni; Renieri, Alessandra; Pinto, Anna Maria | - | |
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males | 1-gen-2023 | Fallerini, Chiara; Daga, Sergio; Benetti, Elisa; Picchiotti, Nicola; Zguro, Kristina; Catapano, Francesca; Baroni, Virginia; Lanini, Simone; Bucalossi, Alessandro; Marotta, Giuseppe; Colombo, Francesca; Baldassarri, Margherita; Fava, Francesca; Beligni, Giada; Di Sarno, Laura; Alaverdian, Diana; Palmieri, Maria; Croci, Susanna; Isidori, Andrea M.; Furini, Simone; Frullanti, Elisa; Null, Null; Renieri, Alessandra; Mari, Francesca | - | |
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint | 1-gen-2021 | Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; Null, Null; Baets, Jonathan; Balicza, Peter; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Horvath, Rita; Houlden, Henry; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; van de Warrenburg, Bart; van Os, Nienke; Vandrovcova, Jana; Wayand, Melanie; Wilke, Carlo; van de Warrenburg, Bart; Schöls, Ludger; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graessner, Holm; Synofzik, Matthis; Null, Null; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; 't Hoen, Peter A. C.; Vissers, Lisenka E. L. M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Cruz, Pedro M. Rodriguez; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas | - | |
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) | 1-gen-2021 | Doddato, G.; Valentino, F.; Giliberti, A.; Papa, F. T.; Tita, R.; Bruno, L. P.; Resciniti, S.; Fallerini, C.; Benetti, E.; Palmieri, M.; Mencarelli, M. A.; Fabbiani, A.; Bruttini, M.; Orrico, A.; Baldassarri, M.; Fava, F.; Lopergolo, D.; Rizzo, C. L.; Lamacchia, V.; Mannucci, S.; Pinto, A. M.; Curro, A.; Mancini, V.; Mari, F.; Renieri, A.; Ariani, F. | - | |
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations | 1-gen-2021 | Valentino, F.; Bruno, L. P.; Doddato, G.; Giliberti, A.; Tita, R.; Resciniti, S.; Fallerini, C.; Bruttini, M.; Lo Rizzo, C.; Mencarelli, M. A.; Mari, F.; Pinto, A. M.; Fava, F.; Baldassarri, M.; Fabbiani, A.; Lamacchia, V.; Benetti, E.; Zguro, K.; Furini, S.; Renieri, A.; Ariani, F. | - | |
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. | 1-gen-2021 | Doddato, G; Valentino, F; Giliberti, A; Papa, Ft; Tita, R; Bruno, Lp; Resciniti, S; Fallerini, C; Benetti, E; Palmieri, M; Mencarelli, Ma; Fabbiani, A; Bruttini, M; Orrico, A; Baldassarri, M; Fava, F; Lopergolo, D; Lo Rizzo, C; Lamacchia, V; Mannucci, S; Pinto, Am; Currò, A; Mancini, V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est; Mari, F; Renieri, A; Ariani, F | - | |
Genetic mechanisms of critical illness in COVID-19 | 1-gen-2021 | Erola, Pairo-Castineira; Sara, Clohisey; Lucija, Klaric; Andrew D, Bretherick; Konrad, Rawlik; Dorota, Pasko; Susan, Walker; Nick, Parkinson; Max Head, Fourman; Clark D, Russell; James, Furniss; Anne, Richmond; Elvina, Gountouna; Nicola, Wrobel; David, Harrison; Bo, Wang; Yang, Wu; Alison, Meynert; Fiona, Griffiths; Wilna, Oosthuyzen; Athanasios, Kousathanas; Loukas, Moutsianas; Zhijian, Yang; Ranran, Zhai; Chenqing, Zheng; Graeme, Grimes; Rupert, Beale; Jonathan, Millar; Barbara, Shih; Sean, Keating; Marie, Zechner; Chris, Haley; David J, Porteous; Caroline, Hayward; Jian, Yang; Julian, Knight; Charlotte, Summers; Manu, Shankar-Hari; Paul, Klenerman; Lance, Turtle; Antonia, Ho; Shona C, Moore; Charles, Hinds; Peter, Horby; Alistair, Nichol; David, Maslove; Lowell, Ling; Danny, Mcauley; Hugh, Montgomery; Timothy, Walsh; Alexandre C, Pereira; Renieri, ; Millar, Johnny; Nichol, Alistair; Walsh, Tim; Shankar-Hari, Manu; Ponting, Chris; Meikle, Jen; Finernan, Paul; Mcmaster, Ellie; Law, Andy; Kenneth Baillie, J; Paterson, Trevor; Wackett, Tony; Armstrong, Ruth; Clark, Richard; Coutts, Audrey; Donnelly, Lorna; Gilchrist, Tammy; Hafezi, Katarzyna; Macgillivray, Louise; Maclean, Alan; Mccafferty, Sarah; Morrice, Kirstie; Weaver, Jane; Boz, Ceilia; Golightly, Ailsa; Ward, Mari; Mal, Hanning; Szoor-McElhinney, Helen; Brown, Adam; Hendry, Ross; Stenhouse, Andrew; Cullum, Louise; Law, Dawn; Law, Sarah; Law, Rachel; Swets, Maaike; Day, Nicky; Taneski, Filip; Duncan, Esther; Parkinson, Nicholas; Collier, D; Wood, S; Zak, A; Borra, C; Matharu, M; May, P; Alldis, Z; Mitchelmore, O; Bowles, R; Easthope, A; Bibi, F; Lancoma-Malcolm, I; Gurasashvili, J; Pheby, J; Shiel, J; Bolton, M; Patel, M; Taylor, M; Zongo, O; Ebano, P; Harding, P; Astin-Chamberlain, R; Choudhury, Y; Cox, A; Kallon, D; Burton, M; Hall, R; Blowes, S; Prime, Z; Biddle, J; Prysyazhna, O; Newman, T; Tierney, C; Kassam, J; Shankar-Hari, M; Ostermann, M; Campos, S; Bociek, A; 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J Fairfield, Cameron; R Knight, Stephen; A Mclean, Kenneth; Murphy, Derek; A Shaw, Catherine; Dalton, Jo; Girvan, Michelle; Saviciute, Egle; Roberts, Stephanie; Harrison, Janet; Marsh, Laura; Connor, Marie; Halpin, Sophie; Jackson, Clare; Gamble, Carrol; Leeming, Gary; Wham, Murray; Greenhalf, William; Shaw, Victoria; Mcdonald, Sara; Keating, Seán; Ganna, Andrea; Sulem, Patrick; A van Heel, David; Cordioli, Mattia; Sveinbjornsson, Gardar; K Niemi, Mari E; F Shelton, Janie; J Shastri, Anjali; Ye, Chelsea; H Weldon, Catherine; Filshtein-Sonmez, Teresa; Coker, Daniella; Symons, Antony; Esparza-Gordillo, Jorge; Aslibekyan, Stella; Auton, Adam; E Krieger, Jose; Marques, Emmanuelle; E Jannes, Cinthia; Mari, Francesca; Daga, Sergio; Baldassarri, Margherita; Benetti, Elisa; Furini, Simone; Fallerini, Chiara; Fava, Francesca; Valentino, Floriana; Doddato, Gabriella; Giliberti, Annarita; Tita, Rossella; Amitrano, Sara; Bruttini, Mirella; Croci, Susanna; Meloni, Ilaria; Pinto, ANNA MARIA; Frullanti, Elisa; 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Tavecchia, Luisa; Crotti, Lia; Picchiotti, Nicola; Gori, Marco; Gabbi, Chiara; Sanarico, Maurizio; Ceri, Stefano; Pinoli, Pietro; Raimondi, Francesco; Biscarini, Filippo; Stella, Alessandra; Alessandra, ; Xia, Shen; Chris P, Ponting; Angie, Fawkes; Albert, Tenesa; Mark, Caulfield; Richard, Scott; Kathy, Rowan; Lee, Murphy; Peter J M, Openshaw; Malcolm G, Semple; Andrew, Law; Veronique, Vitart; James F, Wilson; J Kenneth, Baillie | - |