IRIS
FALLERINI, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 6.968
NA - Nord America 6.422
AS - Asia 3.541
SA - Sud America 671
AF - Africa 242
OC - Oceania 18
Continente sconosciuto - Info sul continente non disponibili 5
Totale 17.867
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Nazione #
US - Stati Uniti d'America 6.289
IT - Italia 1.802
RU - Federazione Russa 1.651
SG - Singapore 1.008
CN - Cina 939
GB - Regno Unito 872
IE - Irlanda 664
BR - Brasile 574
VN - Vietnam 551
DE - Germania 509
HK - Hong Kong 368
FR - Francia 324
SE - Svezia 296
FI - Finlandia 266
KR - Corea 178
NL - Olanda 138
IN - India 123
ZA - Sudafrica 116
UA - Ucraina 112
CA - Canada 77
ES - Italia 63
TR - Turchia 56
JP - Giappone 48
AT - Austria 46
BD - Bangladesh 44
PL - Polonia 43
CI - Costa d'Avorio 38
AR - Argentina 33
IQ - Iraq 33
BE - Belgio 32
CZ - Repubblica Ceca 32
MX - Messico 32
PK - Pakistan 26
CH - Svizzera 25
NG - Nigeria 24
IR - Iran 22
ID - Indonesia 18
UZ - Uzbekistan 18
KE - Kenya 17
EC - Ecuador 15
AE - Emirati Arabi Uniti 14
AU - Australia 14
SA - Arabia Saudita 14
VE - Venezuela 14
CL - Cile 13
MA - Marocco 13
DK - Danimarca 11
LT - Lituania 11
PH - Filippine 11
BG - Bulgaria 8
CO - Colombia 8
PA - Panama 8
PE - Perù 8
EG - Egitto 7
MY - Malesia 7
RO - Romania 7
GR - Grecia 6
JO - Giordania 6
AL - Albania 5
AZ - Azerbaigian 5
DZ - Algeria 5
EE - Estonia 5
HN - Honduras 5
HR - Croazia 5
HU - Ungheria 5
IL - Israele 5
KZ - Kazakistan 5
LV - Lettonia 5
NO - Norvegia 5
NP - Nepal 5
SN - Senegal 5
AO - Angola 4
BW - Botswana 4
CY - Cipro 4
ET - Etiopia 4
EU - Europa 4
LK - Sri Lanka 4
MK - Macedonia 4
PT - Portogallo 4
SK - Slovacchia (Repubblica Slovacca) 4
BY - Bielorussia 3
CR - Costa Rica 3
GE - Georgia 3
JM - Giamaica 3
KG - Kirghizistan 3
LB - Libano 3
PY - Paraguay 3
SY - Repubblica araba siriana 3
TT - Trinidad e Tobago 3
AM - Armenia 2
BH - Bahrain 2
GT - Guatemala 2
NR - Nauru 2
OM - Oman 2
QA - Qatar 2
RS - Serbia 2
TM - Turkmenistan 2
TN - Tunisia 2
TW - Taiwan 2
UY - Uruguay 2
Totale 17.852
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Città #
Dallas 1.601
Southend 705
Dublin 646
Singapore 640
Ashburn 534
Moscow 512
Santa Clara 352
Hong Kong 348
Siena 329
Chandler 311
San Jose 311
Fairfield 300
Hefei 259
Milan 248
Munich 232
Beijing 227
Council Bluffs 179
Seoul 175
Helsinki 174
Los Angeles 172
Ho Chi Minh City 160
Ann Arbor 131
Woodbridge 131
New York 130
Houston 125
Hanoi 122
Florence 120
Seattle 118
Cambridge 112
Johannesburg 106
Lauterbourg 105
Wilmington 97
Rome 87
The Dalles 81
Princeton 79
Jacksonville 74
São Paulo 67
Menlo Park 62
Dong Ket 47
Nuremberg 47
Shanghai 47
Boardman 45
Chicago 42
Orem 42
Turku 42
Tokyo 39
Abidjan 38
Brescia 35
London 35
Frankfurt am Main 34
Buffalo 33
Málaga 33
Bengaluru 32
San Diego 32
Lappeenranta 30
Warsaw 30
Redondo Beach 28
Dearborn 27
Haiphong 27
Washington 27
Stockholm 24
Abuja 23
Denver 23
Brussels 22
Chennai 22
Düsseldorf 22
Guangzhou 22
Izmir 22
Montreal 22
Nanjing 22
Toronto 22
Vienna 21
Boston 20
Paris 20
Rio de Janeiro 20
Phoenix 19
San Mateo 19
Amsterdam 18
Bologna 18
Brooklyn 18
Da Nang 18
Fremont 18
Brno 17
Piscataway 16
Hải Dương 15
Tashkent 15
Atlanta 14
Berlin 14
Maastricht 14
Zurich 14
Columbus 13
Lancaster 13
San Francisco 13
Naples 12
Aachen 11
Baghdad 11
Can Tho 11
City of London 11
Hyderabad 11
Newark 11
Totale 11.645
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Nome #
A first update on mapping the human genetic architecture of COVID-19 575
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 574
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 506
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 499
Genetic mechanisms of critical illness in COVID-19 409
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 394
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 387
An explainable model of host genetic interactions linked to COVID-19 severity 365
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 358
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 344
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 337
Pathogen-sugar interactions revealed by universal saturation transfer analysis 323
null 320
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 315
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 311
Alport syndrome: impact of digenic inheritance in patients management 306
Evidence of digenic inheritance in Alport syndrome 301
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 292
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 289
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 283
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 282
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 273
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 272
Advances in Alport syndrome diagnosis using next-generation sequencing 260
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 253
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 247
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 242
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 235
Non-collagen genes role in digenic Alport syndrome 233
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 231
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma. 221
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 218
Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome 216
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 213
WES profiling of COVID-19 204
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report 203
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 202
Whole-genome sequencing reveals host factors underlying critical COVID-19 198
Clinical and molecular characterization of COVID-19 hospitalized patients 192
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 192
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 189
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 188
null 182
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 180
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 176
Assessment of haptoglobin alleles in autism spectrum disorders 174
New candidates for autism/intellectual disability identified by whole-exome sequencing 171
SELP Asp603Asn and severe thrombosis in COVID-19 males 170
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 169
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 168
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 163
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 161
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder 159
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 158
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 157
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 155
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy 154
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 154
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 154
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males 149
An interconnected data infrastructure to support large-scale rare disease research 148
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 148
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder 147
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 145
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 144
null 140
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 134
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 134
Human CRY1 variants associate with attention deficit/hyperactivity disorder 129
Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics 121
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 115
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect 114
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases 114
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 108
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 107
Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders 102
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study 99
Host genetic basis of COVID-19: from methodologies to genes 85
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 85
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype 83
Vestibular and audiological findings in the Alport syndrome 79
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 76
Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study 76
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males 72
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 72
Rare variants modulating phenotype in NF1 carriers 64
Mapping the human genetic architecture of COVID-19 5
Totale 18.252
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Categoria #
all - tutte 57.909
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 57.909
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021412 0 0 0 0 0 0 0 0 0 184 123 105
2021/2022982 97 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
2025/20268.328 553 1.259 1.306 1.125 1.551 326 1.087 281 360 480 0 0
Totale 18.252