IRIS
FRULLANTI, ELISA
 Distribuzione geografica
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Continente #
EU - Europa 4.148
NA - Nord America 3.869
AS - Asia 415
OC - Oceania 7
SA - Sud America 5
Continente sconosciuto - Info sul continente non disponibili 4
AF - Africa 2
Totale 8.450
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Nazione #
US - Stati Uniti d'America 3.857
GB - Regno Unito 1.130
IT - Italia 967
IE - Irlanda 796
SE - Svezia 323
FR - Francia 284
CN - Cina 262
DE - Germania 214
UA - Ucraina 196
FI - Finlandia 107
VN - Vietnam 55
ES - Italia 43
IN - India 26
TR - Turchia 25
BE - Belgio 20
IR - Iran 17
RU - Federazione Russa 14
CA - Canada 12
NL - Olanda 11
CH - Svizzera 9
AU - Australia 7
HK - Hong Kong 7
BG - Bulgaria 5
PL - Polonia 5
AT - Austria 4
EU - Europa 4
JP - Giappone 4
MK - Macedonia 4
RO - Romania 3
CL - Cile 2
CY - Cipro 2
CZ - Repubblica Ceca 2
EE - Estonia 2
IL - Israele 2
MA - Marocco 2
MY - Malesia 2
PH - Filippine 2
PK - Pakistan 2
PT - Portogallo 2
QA - Qatar 2
AL - Albania 1
AM - Armenia 1
AR - Argentina 1
AZ - Azerbaigian 1
BD - Bangladesh 1
BR - Brasile 1
DK - Danimarca 1
GR - Grecia 1
HU - Ungheria 1
ID - Indonesia 1
LK - Sri Lanka 1
LT - Lituania 1
MM - Myanmar 1
NO - Norvegia 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
VE - Venezuela 1
Totale 8.450
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Città #
Southend 1.030
Dublin 777
Fairfield 590
Chandler 422
Ashburn 401
Woodbridge 274
Siena 230
Cambridge 222
Houston 210
Seattle 208
Wilmington 192
Ann Arbor 188
Jacksonville 154
New York 98
Princeton 97
Helsinki 79
Florence 69
Beijing 67
Milan 58
Dong Ket 55
Nanjing 54
San Mateo 44
San Diego 43
Dearborn 41
Rome 37
Lancaster 35
Málaga 33
Boardman 32
Washington 32
Shanghai 30
Menlo Park 24
Fremont 22
Aachen 19
Brussels 17
Izmir 16
London 16
Padova 15
Shenyang 15
Hebei 12
Norwalk 12
Hyderabad 11
Jinan 11
Los Angeles 11
Nanchang 11
Redwood City 11
Comun Nuovo 10
Guangzhou 10
Phoenix 10
Chicago 9
Tianjin 9
Brescia 7
Brindisi 7
Carrara 7
Empoli 7
Napoli 7
Naples 6
Paris 6
Pisa 6
Toronto 6
Zanjan 6
Amsterdam 5
Bologna 5
Esslingen am Neckar 5
Falls Church 5
Kunming 5
Loro Ciuffenna 5
Rieti 5
Sofia 5
Camden 4
Casalecchio di Reno 4
Fiesole 4
Gdynia 4
Genova 4
Hangzhou 4
Jiaxing 4
Noceto 4
Poggibonsi 4
Salerno 4
Venice 4
Vienna 4
Wettingen 4
Zhengzhou 4
Anguillara Sabazia 3
Arese 3
Bangalore 3
Bergamo 3
Bolzano 3
Bonndorf 3
Borgonovo Val Tidone 3
Changsha 3
Cossato 3
Falkenstein 3
Farra di Soligo 3
Ferrara di Monte Baldo 3
Guagnano 3
Hounslow 3
Kilburn 3
Leawood 3
Lebanon 3
Madison 3
Totale 6.288
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Nome #
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 268
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 255
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 236
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 204
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 200
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 196
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 192
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene 191
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 189
Alport syndrome: impact of digenic inheritance in patients management 189
null 182
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 176
Analysis of the Phenotypes in the Rett Networked Database 172
Genetic mechanisms of critical illness in COVID-19 171
null 170
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 169
Commentary: Potential links between hepadnavirus and bornavirus sequences in the host genome and cancer 155
A polygenic model with common variants may predict lung adenocarcinoma risk in humans 151
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 150
Multiple genetic loci modulate lung adenocarcinoma clinical staging 149
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 148
Genome-wide association study in discordant sibships identifies multiple inherited susceptibility alleles linked to lung cancer 145
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 144
Association of lung adenocarcinoma clinical stage with gene expression pattern in noninvolved lung tissue 141
Germline polymorphisms and survival of lung adenocarcinoma patients: A genome-wide study in two European patient series 138
FGFR4 Gly388Arg polymorphism may affect the clinical stage of patients with lung cancer by modulating the transcriptional profile of normal lung 136
A 5'-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A 134
null 134
null 133
Germline mutations in lung cancer and personalized medicine 131
Gene expression signature of non-involved lung tissue associated with survival in lung adenocarcinoma patients 130
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 128
Mouse Pulmonary Adenoma Susceptibility 1 Locus Is an Expression QTL Modulating Kras-4A 126
Transcription deregulation at the 15q25 locus in association with lung adenocarcinoma risk 126
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 126
Authors' reply: Comment to "Vinyl chloride exposure and cirrhosis: A systematic review and meta-analysis" 124
Promoter polymorphisms and transcript levels of nicotinic receptor CHRNA5 123
AAV-mediated FOXG1 gene editing in human Rett primary cells 120
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 119
null 114
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males. 110
Vinyl chloride exposure and cirrhosis: A systematic review and meta-analysis 104
Meta and pooled analyses of FGFR4 Gly388Arg polymorphism as a cancer prognostic factor 104
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 98
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 90
Mapping the human genetic architecture of COVID-19 90
Riorganizzazione dell’attività di Genetica Medica relativa ai test genetici per malattie rare in ottica LEAN 87
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 83
WES profiling of COVID-19 81
A first update on mapping the human genetic architecture of COVID-19 80
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 80
null 75
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 73
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 72
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 71
An explainable model of host genetic interactions linked to COVID-19 severity 68
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 63
SELP Asp603Asn and severe thrombosis in COVID-19 males 63
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 63
null 61
The phenomenon of multidrug resistance in glioblastomas 59
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis 55
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 51
null 48
Different Liquid Biopsies for the Management of Non-Small Cell Lung Cancer in the Mutational Oncology Era 39
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 38
Whole-genome sequencing reveals host factors underlying critical COVID-19 38
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 36
Diagnostic accuracy of circulating free DNA testing for the detection of KRAS mutations in non-small cell lung cancer: a systematic review and meta-analysis 34
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 32
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women 30
Related expression of TRKA and P75 receptors and the changing copy number of MYC-oncogenes determine the sensitivity of brain tumor cells to the treatment of the nerve growth factor in combination with cisplatin and temozolomide 30
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 28
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 27
Clinical and molecular characterization of COVID-19 hospitalized patients 26
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells 25
null 23
Liquid Biopsies 20
Noninvasive Genetic Testing: Adhesive Patch-Based Skin Biopsy and Buccal Swab 19
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 17
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 11
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 7
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation 6
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 4
Editorial: Pharmacogenetic landscape in human solid cancers. 3
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 3
Editorial: Current trends and future perspectives about liquid biopsy 3
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 2
Totale 8.715
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Categoria #
all - tutte 29.220
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29.220
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019413 0 0 0 0 0 0 0 0 0 0 239 174
2019/20201.511 166 81 92 202 120 123 131 177 146 139 45 89
2020/20211.502 62 86 87 104 114 113 109 181 123 234 140 149
2021/20221.254 144 144 77 90 56 47 68 45 64 121 154 244
2022/20231.745 97 149 175 201 130 324 121 158 170 64 101 55
2023/20241.530 74 52 194 101 72 407 448 75 28 79 0 0
Totale 8.715