IRIS
FALLERINI, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 7.469
NA - Nord America 7.236
AS - Asia 3.660
SA - Sud America 676
Continente sconosciuto - Info sul continente non disponibili 395
AF - Africa 244
OC - Oceania 18
Totale 19.698
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Nazione #
US - Stati Uniti d'America 7.062
IT - Italia 2.271
RU - Federazione Russa 1.651
SG - Singapore 1.024
CN - Cina 949
GB - Regno Unito 874
IE - Irlanda 664
BR - Brasile 574
VN - Vietnam 551
DE - Germania 509
HK - Hong Kong 373
FR - Francia 327
SE - Svezia 301
FI - Finlandia 267
KR - Corea 179
NL - Olanda 149
BD - Bangladesh 125
IN - India 124
ZA - Sudafrica 116
UA - Ucraina 112
CA - Canada 103
ES - Italia 65
TR - Turchia 56
JP - Giappone 48
AT - Austria 47
PL - Polonia 45
CI - Costa d'Avorio 38
AR - Argentina 34
IQ - Iraq 33
MX - Messico 33
BE - Belgio 32
CZ - Repubblica Ceca 32
PK - Pakistan 26
CH - Svizzera 25
NG - Nigeria 24
IR - Iran 22
ID - Indonesia 18
UZ - Uzbekistan 18
KE - Kenya 17
EC - Ecuador 16
AE - Emirati Arabi Uniti 15
AU - Australia 14
CL - Cile 14
SA - Arabia Saudita 14
VE - Venezuela 14
MA - Marocco 13
PH - Filippine 12
DK - Danimarca 11
LT - Lituania 11
CO - Colombia 10
BG - Bulgaria 9
MY - Malesia 8
PA - Panama 8
PE - Perù 8
RO - Romania 8
EG - Egitto 7
TT - Trinidad e Tobago 7
GR - Grecia 6
HN - Honduras 6
JO - Giordania 6
NP - Nepal 6
AL - Albania 5
AZ - Azerbaigian 5
CR - Costa Rica 5
CY - Cipro 5
DZ - Algeria 5
EE - Estonia 5
HR - Croazia 5
HU - Ungheria 5
IL - Israele 5
JM - Giamaica 5
KZ - Kazakistan 5
LV - Lettonia 5
NO - Norvegia 5
SK - Slovacchia (Repubblica Slovacca) 5
SN - Senegal 5
AO - Angola 4
BW - Botswana 4
ET - Etiopia 4
EU - Europa 4
GT - Guatemala 4
LK - Sri Lanka 4
MK - Macedonia 4
PT - Portogallo 4
BY - Bielorussia 3
GE - Georgia 3
KG - Kirghizistan 3
LB - Libano 3
PY - Paraguay 3
RS - Serbia 3
SY - Repubblica araba siriana 3
AM - Armenia 2
BH - Bahrain 2
LU - Lussemburgo 2
NR - Nauru 2
OM - Oman 2
QA - Qatar 2
SC - Seychelles 2
TM - Turkmenistan 2
TN - Tunisia 2
Totale 19.287
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Città #
Dallas 1.618
Southend 705
Singapore 647
Dublin 646
Ashburn 574
Moscow 512
Milan 454
San Jose 440
Santa Clara 406
Hong Kong 353
Siena 332
Chandler 311
Fairfield 301
Council Bluffs 288
Hefei 259
Munich 232
Beijing 230
Los Angeles 190
Seoul 175
Helsinki 174
Ho Chi Minh City 160
Rome 151
New York 148
Seattle 133
Ann Arbor 131
Woodbridge 131
Houston 130
Florence 126
Hanoi 122
Cambridge 112
Johannesburg 106
Lauterbourg 105
Wilmington 97
The Dalles 83
Princeton 81
Jacksonville 75
São Paulo 67
Menlo Park 62
Dong Ket 47
Nuremberg 47
Shanghai 47
Chicago 46
Boardman 45
Columbus 44
Orem 43
Turku 42
Buffalo 40
Tokyo 39
Abidjan 38
Brescia 37
London 35
Frankfurt am Main 34
Málaga 33
San Diego 33
Bengaluru 32
Boston 32
Lappeenranta 30
Warsaw 30
Figino 29
Toronto 29
Redondo Beach 28
Washington 28
Dearborn 27
Haiphong 27
Phoenix 26
Montreal 25
Stockholm 24
Abuja 23
Brooklyn 23
Denver 23
Naples 23
Turin 23
Bologna 22
Brussels 22
Chennai 22
Düsseldorf 22
Guangzhou 22
Izmir 22
Nanjing 22
Vienna 21
Paris 20
Rio de Janeiro 20
Fremont 19
San Mateo 19
Amsterdam 18
Da Nang 18
Newark 18
Piscataway 18
Brno 17
San Francisco 17
Atlanta 16
Hải Dương 15
Tashkent 15
Berlin 14
Lancaster 14
Maastricht 14
Zurich 14
Aachen 11
Baghdad 11
Can Tho 11
Totale 12.493
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Nome #
A first update on mapping the human genetic architecture of COVID-19 601
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 592
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 534
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 508
Genetic mechanisms of critical illness in COVID-19 452
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 440
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 397
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 393
An explainable model of host genetic interactions linked to COVID-19 severity 386
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 382
Pathogen-sugar interactions revealed by universal saturation transfer analysis 373
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 358
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 355
Alport syndrome: impact of digenic inheritance in patients management 327
Mapping the human genetic architecture of COVID-19 325
Clonality analysis of immunoglobulin gene rearrangement by next-generation sequencing in endemic burkitt lymphoma suggests antigen drive activation of bcr as opposed to sporadic burkitt lymphoma 323
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 319
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 313
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 309
Evidence of digenic inheritance in Alport syndrome 308
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 302
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 298
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 297
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 284
Advances in Alport syndrome diagnosis using next-generation sequencing 272
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 260
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 257
Non-collagen genes role in digenic Alport syndrome 249
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 248
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 247
Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome 230
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 229
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma. 228
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 224
Whole-genome sequencing reveals host factors underlying critical COVID-19 218
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 218
WES profiling of COVID-19 215
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report 211
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 210
Clinical and molecular characterization of COVID-19 hospitalized patients 207
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 205
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 202
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 199
New candidates for autism/intellectual disability identified by whole-exome sequencing 198
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 196
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 192
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder 186
null 182
Assessment of haptoglobin alleles in autism spectrum disorders 182
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder 181
SELP Asp603Asn and severe thrombosis in COVID-19 males 179
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy 177
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 176
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 176
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 173
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 173
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 173
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 172
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 172
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 163
An interconnected data infrastructure to support large-scale rare disease research 160
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 160
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 160
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males 159
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 158
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 151
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 142
null 140
Human CRY1 variants associate with attention deficit/hyperactivity disorder 138
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect 137
Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics 127
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases 125
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 122
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 119
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 118
Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders 110
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study 108
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype 94
Rare variants modulating phenotype in NF1 carriers 93
Vestibular and audiological findings in the Alport syndrome 92
Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study 90
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 90
Host genetic basis of COVID-19: from methodologies to genes 89
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 89
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 88
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males 76
A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS 7
Totale 19.698
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Categoria #
all - tutte 63.585
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 63.585
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022885 0 91 54 83 50 42 48 45 56 92 116 208
2022/20231.422 74 133 137 136 107 254 164 153 99 61 65 39
2023/20241.449 64 51 164 76 70 339 382 70 14 64 56 99
2024/20253.632 160 132 384 248 426 276 291 241 275 175 345 679
2025/20269.168 553 1.259 1.306 1.125 1.551 326 1.087 281 360 495 279 546
2026/2027606 413 193 0 0 0 0 0 0 0 0 0 0
Totale 19.698