IRIS
FALLERINI, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 6.480
NA - Nord America 5.534
AS - Asia 2.696
SA - Sud America 573
AF - Africa 86
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 5
Totale 15.386
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Nazione #
US - Stati Uniti d'America 5.438
RU - Federazione Russa 1.648
IT - Italia 1.623
SG - Singapore 877
CN - Cina 852
GB - Regno Unito 832
IE - Irlanda 660
BR - Brasile 506
DE - Germania 479
SE - Svezia 293
HK - Hong Kong 289
FI - Finlandia 245
FR - Francia 215
KR - Corea 175
VN - Vietnam 170
NL - Olanda 111
UA - Ucraina 100
IN - India 88
ES - Italia 59
CA - Canada 53
TR - Turchia 47
AT - Austria 41
CI - Costa d'Avorio 36
PL - Polonia 33
JP - Giappone 32
BE - Belgio 30
CZ - Repubblica Ceca 30
MX - Messico 27
AR - Argentina 26
ZA - Sudafrica 26
BD - Bangladesh 22
IR - Iran 22
IQ - Iraq 18
CH - Svizzera 16
PK - Pakistan 16
EC - Ecuador 12
MA - Marocco 11
AE - Emirati Arabi Uniti 10
CL - Cile 10
DK - Danimarca 10
AU - Australia 9
ID - Indonesia 9
UZ - Uzbekistan 9
BG - Bulgaria 8
LT - Lituania 8
SA - Arabia Saudita 8
PE - Perù 7
PH - Filippine 7
PA - Panama 6
EE - Estonia 5
VE - Venezuela 5
AL - Albania 4
AZ - Azerbaigian 4
EU - Europa 4
LK - Sri Lanka 4
LV - Lettonia 4
MK - Macedonia 4
NO - Norvegia 4
CO - Colombia 3
CY - Cipro 3
DZ - Algeria 3
GE - Georgia 3
IL - Israele 3
JO - Giordania 3
KE - Kenya 3
RO - Romania 3
SK - Slovacchia (Repubblica Slovacca) 3
TT - Trinidad e Tobago 3
AM - Armenia 2
BH - Bahrain 2
BY - Bielorussia 2
GR - Grecia 2
GT - Guatemala 2
HN - Honduras 2
HR - Croazia 2
JM - Giamaica 2
KG - Kirghizistan 2
LB - Libano 2
MY - Malesia 2
NP - Nepal 2
NR - Nauru 2
PT - Portogallo 2
QA - Qatar 2
SN - Senegal 2
TM - Turkmenistan 2
TW - Taiwan 2
UY - Uruguay 2
AO - Angola 1
BO - Bolivia 1
CR - Costa Rica 1
EG - Egitto 1
ET - Etiopia 1
HU - Ungheria 1
IS - Islanda 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MD - Moldavia 1
ML - Mali 1
MM - Myanmar 1
NZ - Nuova Zelanda 1
Totale 15.378
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Città #
Dallas 1.596
Southend 705
Dublin 642
Singapore 582
Moscow 512
Ashburn 474
Santa Clara 345
Siena 329
Chandler 311
Fairfield 300
Hong Kong 287
Munich 232
Beijing 224
Hefei 224
Milan 222
Seoul 174
Helsinki 157
Ann Arbor 131
Woodbridge 131
Houston 124
Florence 119
Seattle 117
New York 115
Cambridge 110
Los Angeles 108
Wilmington 97
Rome 81
Princeton 79
Jacksonville 74
São Paulo 64
Menlo Park 62
Dong Ket 47
Boardman 45
Nuremberg 44
Shanghai 43
Turku 42
Ho Chi Minh City 41
Abidjan 36
Brescia 35
Málaga 33
Bengaluru 32
Chicago 32
Council Bluffs 32
Lauterbourg 32
Buffalo 31
San Diego 31
Tokyo 29
Redondo Beach 28
Dearborn 27
Hanoi 27
Lappeenranta 26
Washington 26
London 24
Warsaw 24
Denver 22
Düsseldorf 22
Nanjing 22
Brussels 21
Guangzhou 21
Izmir 21
Stockholm 21
The Dalles 21
San Mateo 19
Boston 18
Fremont 18
Phoenix 18
Bologna 17
Brno 17
Johannesburg 17
Vienna 17
Brooklyn 16
Rio de Janeiro 15
Toronto 15
Berlin 14
Frankfurt am Main 14
Maastricht 14
Columbus 13
Lancaster 13
Paris 13
Atlanta 12
Montreal 12
Aachen 11
Chennai 11
Piscataway 11
San Francisco 11
Amsterdam 10
Comun Nuovo 10
Hyderabad 10
Newark 10
Tianjin 10
Changsha 9
Mexico City 9
Nanchang 9
Naples 9
Orem 9
Portsmouth 9
Redwood City 9
Tehran 9
Brasília 8
Carrara 8
Totale 10.140
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Nome #
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 544
A first update on mapping the human genetic architecture of COVID-19 537
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 459
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 454
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 358
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 333
Genetic mechanisms of critical illness in COVID-19 332
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 328
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 326
An explainable model of host genetic interactions linked to COVID-19 severity 324
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 295
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 286
Alport syndrome: impact of digenic inheritance in patients management 281
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 275
Pathogen-sugar interactions revealed by universal saturation transfer analysis 269
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 268
Evidence of digenic inheritance in Alport syndrome 267
Mapping the human genetic architecture of COVID-19 262
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 257
Advances in Alport syndrome diagnosis using next-generation sequencing 245
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 245
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 235
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 232
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 225
Non-collagen genes role in digenic Alport syndrome 223
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 216
Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome 207
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 204
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma. 200
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 197
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 194
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 191
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report 185
null 182
WES profiling of COVID-19 182
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 180
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 178
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 174
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 167
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 166
Clinical and molecular characterization of COVID-19 hospitalized patients 166
Assessment of haptoglobin alleles in autism spectrum disorders 161
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 159
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 153
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 147
Whole-genome sequencing reveals host factors underlying critical COVID-19 143
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 143
New candidates for autism/intellectual disability identified by whole-exome sequencing 143
null 140
SELP Asp603Asn and severe thrombosis in COVID-19 males 139
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 139
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 137
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy 132
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 132
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 132
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 129
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 126
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 123
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males 122
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 120
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder 119
An interconnected data infrastructure to support large-scale rare disease research 119
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder 119
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 117
Human CRY1 variants associate with attention deficit/hyperactivity disorder 113
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 111
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 106
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 104
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases 103
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect 102
Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics 101
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 99
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 98
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 94
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 94
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study 88
Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders 85
Host genetic basis of COVID-19: from methodologies to genes 79
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 74
Vestibular and audiological findings in the Alport syndrome 74
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype 64
Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study 63
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 62
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males 57
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 54
Totale 15.768
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Categoria #
all - tutte 53.052
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 53.052
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021733 0 0 0 0 0 51 75 79 116 184 123 105
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
2025/20265.844 553 1.259 1.306 1.125 1.551 50 0 0 0 0 0 0
Totale 15.768