IRIS
FRULLANTI, ELISA
 Distribuzione geografica
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Continente #
EU - Europa 4.617
NA - Nord America 3.814
AS - Asia 586
AF - Africa 30
SA - Sud America 10
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 4
Totale 9.069
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Nazione #
US - Stati Uniti d'America 3.798
IT - Italia 1.147
GB - Regno Unito 1.118
IE - Irlanda 721
SE - Svezia 312
RU - Federazione Russa 310
FR - Francia 284
CN - Cina 283
DE - Germania 266
UA - Ucraina 194
SG - Singapore 138
FI - Finlandia 116
VN - Vietnam 55
ES - Italia 41
IN - India 29
CI - Costa d'Avorio 24
TR - Turchia 24
BE - Belgio 21
NL - Olanda 19
IR - Iran 17
CZ - Repubblica Ceca 16
CA - Canada 15
CH - Svizzera 10
AU - Australia 7
HK - Hong Kong 7
PL - Polonia 6
BG - Bulgaria 5
AT - Austria 4
EU - Europa 4
JP - Giappone 4
MK - Macedonia 4
AL - Albania 3
BR - Brasile 3
DK - Danimarca 3
IL - Israele 3
LV - Lettonia 3
PT - Portogallo 3
AZ - Azerbaigian 2
BW - Botswana 2
CL - Cile 2
CY - Cipro 2
EG - Egitto 2
KG - Kirghizistan 2
LK - Sri Lanka 2
MA - Marocco 2
MY - Malesia 2
PE - Perù 2
PH - Filippine 2
PK - Pakistan 2
QA - Qatar 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
UZ - Uzbekistan 2
AM - Armenia 1
AR - Argentina 1
BD - Bangladesh 1
BY - Bielorussia 1
EC - Ecuador 1
EE - Estonia 1
GE - Georgia 1
GR - Grecia 1
HR - Croazia 1
HU - Ungheria 1
ID - Indonesia 1
JM - Giamaica 1
JO - Giordania 1
LT - Lituania 1
MM - Myanmar 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
SA - Arabia Saudita 1
TM - Turkmenistan 1
VE - Venezuela 1
Totale 9.069
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Città #
Southend 1.019
Dublin 703
Fairfield 584
Chandler 406
Ashburn 374
Woodbridge 272
Siena 268
Cambridge 220
Houston 209
Seattle 207
Wilmington 188
Ann Arbor 183
Jacksonville 154
Singapore 109
Princeton 94
Milan 86
New York 85
Helsinki 80
Beijing 68
Florence 66
Dong Ket 55
Nanjing 54
Rome 54
Munich 49
San Mateo 43
San Diego 42
Boardman 41
Dearborn 41
Lancaster 35
Moscow 31
Shanghai 29
Washington 28
Málaga 27
Abidjan 24
Menlo Park 24
Fremont 20
Padova 19
Brussels 18
Aachen 17
Izmir 16
London 16
Chicago 15
Los Angeles 15
Shenyang 15
Guangzhou 12
Hebei 12
Norwalk 12
Hyderabad 11
Jinan 11
Nanchang 11
Redwood City 11
Brno 10
Comun Nuovo 10
Ferrara 10
Nuremberg 10
Phoenix 10
Pisa 10
Tianjin 9
Bologna 8
Paris 8
Carrara 7
Columbus 7
Dallas 7
Empoli 7
Naples 7
Napoli 7
Santa Clara 7
Anagni 6
Venice 6
Zanjan 6
Amsterdam 5
Bolzano 5
Brescia 5
Catanzaro 5
Espoo 5
Falls Church 5
Kunming 5
Loro Ciuffenna 5
Sofia 5
Toronto 5
Zurich 5
Camden 4
Casalecchio di Reno 4
Esslingen am Neckar 4
Fiesole 4
Genova 4
Hangzhou 4
Jiaxing 4
Lappeenranta 4
Newark 4
Poggibonsi 4
Rimini 4
Salerno 4
San Francisco 4
Sovicille 4
Stockholm 4
Vienna 4
Zhengzhou 4
Anguillara Sabazia 3
Bangalore 3
Totale 6.464
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Nome #
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 332
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 264
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 250
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 215
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 208
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 208
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 202
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene 200
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 199
Genetic mechanisms of critical illness in COVID-19 199
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 198
Alport syndrome: impact of digenic inheritance in patients management 198
Analysis of the Phenotypes in the Rett Networked Database 183
null 182
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 182
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 178
Commentary: Potential links between hepadnavirus and bornavirus sequences in the host genome and cancer 162
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 160
A polygenic model with common variants may predict lung adenocarcinoma risk in humans 160
Multiple genetic loci modulate lung adenocarcinoma clinical staging 155
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 155
Genome-wide association study in discordant sibships identifies multiple inherited susceptibility alleles linked to lung cancer 152
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 152
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 150
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 149
Association of lung adenocarcinoma clinical stage with gene expression pattern in noninvolved lung tissue 147
Germline polymorphisms and survival of lung adenocarcinoma patients: A genome-wide study in two European patient series 145
A 5'-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A 142
FGFR4 Gly388Arg polymorphism may affect the clinical stage of patients with lung cancer by modulating the transcriptional profile of normal lung 141
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 139
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 139
Gene expression signature of non-involved lung tissue associated with survival in lung adenocarcinoma patients 138
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 137
Germline mutations in lung cancer and personalized medicine 137
null 133
Transcription deregulation at the 15q25 locus in association with lung adenocarcinoma risk 133
AAV-mediated FOXG1 gene editing in human Rett primary cells 133
Authors' reply: Comment to "Vinyl chloride exposure and cirrhosis: A systematic review and meta-analysis" 131
Mouse Pulmonary Adenoma Susceptibility 1 Locus Is an Expression QTL Modulating Kras-4A 128
Promoter polymorphisms and transcript levels of nicotinic receptor CHRNA5 127
Mapping the human genetic architecture of COVID-19 125
A first update on mapping the human genetic architecture of COVID-19 112
Vinyl chloride exposure and cirrhosis: A systematic review and meta-analysis 110
Meta and pooled analyses of FGFR4 Gly388Arg polymorphism as a cancer prognostic factor 108
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 107
An explainable model of host genetic interactions linked to COVID-19 severity 103
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 99
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 98
Riorganizzazione dell’attività di Genetica Medica relativa ai test genetici per malattie rare in ottica LEAN 97
WES profiling of COVID-19 96
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 95
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 92
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 85
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 81
Clinical and molecular characterization of COVID-19 hospitalized patients 79
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 76
SELP Asp603Asn and severe thrombosis in COVID-19 males 76
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 73
The phenomenon of multidrug resistance in glioblastomas 66
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis 64
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 64
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 59
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 54
Different Liquid Biopsies for the Management of Non-Small Cell Lung Cancer in the Mutational Oncology Era 48
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 43
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells 42
Whole-genome sequencing reveals host factors underlying critical COVID-19 40
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 40
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 39
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 34
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 34
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 32
Liquid Biopsies 24
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 20
Noninvasive Genetic Testing: Adhesive Patch-Based Skin Biopsy and Buccal Swab 19
Editorial: Pharmacogenetic landscape in human solid cancers. 16
Editorial: Lung adenocarcinoma: from genomics to immunotherapy 15
Differential gene expression analysis pipelines and bioinformatic tools for the identification of specific biomarkers: A review 14
The Personalized Inherited Signature Predisposing to Non-Small-Cell Lung Cancer in Non-Smokers 13
Editorial: Current trends and future perspectives about liquid biopsy 11
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity 9
Editorial: Liquid biopsy and new omics technologies in vascular malformations 5
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 5
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 4
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males 3
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 2
Totale 9.374
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Categoria #
all - tutte 34.299
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 34.299
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020970 0 0 0 0 120 123 131 177 146 139 45 89
2020/20211.465 57 85 83 98 114 110 107 175 120 229 140 147
2021/20221.208 141 143 75 89 56 43 63 40 60 120 144 234
2022/20231.626 90 139 166 190 124 318 109 142 143 57 94 54
2023/20241.472 70 47 170 89 62 355 390 60 22 60 40 107
2024/2025919 102 146 345 216 110 0 0 0 0 0 0 0
Totale 9.374