IRIS
FALLERINI, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 7.072
NA - Nord America 6.693
AS - Asia 3.635
SA - Sud America 674
AF - Africa 242
OC - Oceania 18
Continente sconosciuto - Info sul continente non disponibili 5
Totale 18.339
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Nazione #
US - Stati Uniti d'America 6.547
IT - Italia 1.887
RU - Federazione Russa 1.651
SG - Singapore 1.018
CN - Cina 944
GB - Regno Unito 872
IE - Irlanda 664
BR - Brasile 574
VN - Vietnam 551
DE - Germania 509
HK - Hong Kong 370
FR - Francia 327
SE - Svezia 296
FI - Finlandia 266
KR - Corea 179
NL - Olanda 149
IN - India 123
BD - Bangladesh 119
ZA - Sudafrica 116
UA - Ucraina 112
CA - Canada 86
ES - Italia 64
TR - Turchia 56
JP - Giappone 48
AT - Austria 47
PL - Polonia 45
CI - Costa d'Avorio 38
AR - Argentina 33
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 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
CO - Colombia 10
BG - Bulgaria 9
MY - Malesia 8
PA - Panama 8
PE - Perù 8
EG - Egitto 7
RO - Romania 7
GR - Grecia 6
HN - Honduras 6
JO - Giordania 6
AL - Albania 5
AZ - Azerbaigian 5
DZ - Algeria 5
EE - Estonia 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
JM - Giamaica 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
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 18.323
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Città #
Dallas 1.606
Southend 705
Dublin 646
Singapore 642
Ashburn 546
Moscow 512
San Jose 395
Santa Clara 363
Hong Kong 350
Siena 332
Chandler 311
Fairfield 301
Hefei 259
Milan 258
Munich 232
Beijing 227
Los Angeles 183
Council Bluffs 179
Seoul 175
Helsinki 174
Ho Chi Minh City 160
New York 138
Ann Arbor 131
Woodbridge 131
Houston 128
Hanoi 122
Florence 120
Seattle 118
Cambridge 112
Johannesburg 106
Lauterbourg 105
Wilmington 97
Rome 91
The Dalles 81
Princeton 79
Jacksonville 74
São Paulo 67
Menlo Park 62
Dong Ket 47
Nuremberg 47
Shanghai 47
Boardman 45
Chicago 44
Orem 43
Turku 42
Buffalo 39
Tokyo 39
Abidjan 38
Brescia 35
London 35
Frankfurt am Main 34
Málaga 33
Bengaluru 32
San Diego 32
Lappeenranta 30
Warsaw 30
Redondo Beach 28
Washington 28
Dearborn 27
Haiphong 27
Toronto 26
Stockholm 24
Abuja 23
Boston 23
Denver 23
Montreal 23
Brussels 22
Chennai 22
Düsseldorf 22
Guangzhou 22
Izmir 22
Nanjing 22
Brooklyn 21
Vienna 21
Paris 20
Phoenix 20
Rio de Janeiro 20
Bologna 19
San Mateo 19
Amsterdam 18
Da Nang 18
Fremont 18
Piscataway 18
Brno 17
Naples 17
Atlanta 16
Hải Dương 15
Tashkent 15
Berlin 14
Columbus 14
Maastricht 14
Newark 14
San Francisco 14
Zurich 14
Lancaster 13
Turin 12
Aachen 11
Baghdad 11
Can Tho 11
City of London 11
Totale 11.839
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Nome #
A first update on mapping the human genetic architecture of COVID-19 582
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 577
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 515
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 504
Genetic mechanisms of critical illness in COVID-19 430
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 418
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 395
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 381
An explainable model of host genetic interactions linked to COVID-19 severity 371
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 356
Pathogen-sugar interactions revealed by universal saturation transfer analysis 355
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 346
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 318
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 314
Alport syndrome: impact of digenic inheritance in patients management 312
Evidence of digenic inheritance in Alport syndrome 303
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 303
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 294
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 291
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 290
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 285
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 284
Advances in Alport syndrome diagnosis using next-generation sequencing 263
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 258
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 248
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 247
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 237
Non-collagen genes role in digenic Alport syndrome 236
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 234
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma. 224
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 221
Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome 218
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 214
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 208
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report 207
WES profiling of COVID-19 206
Whole-genome sequencing reveals host factors underlying critical COVID-19 201
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 195
Clinical and molecular characterization of COVID-19 hospitalized patients 194
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 193
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 191
New candidates for autism/intellectual disability identified by whole-exome sequencing 190
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 183
null 182
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 180
Assessment of haptoglobin alleles in autism spectrum disorders 176
SELP Asp603Asn and severe thrombosis in COVID-19 males 172
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 170
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 170
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 167
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 167
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 165
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder 165
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 164
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 160
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy 159
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 159
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder 157
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 156
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 155
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males 153
An interconnected data infrastructure to support large-scale rare disease research 152
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 150
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 146
null 140
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 139
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 138
Human CRY1 variants associate with attention deficit/hyperactivity disorder 132
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect 125
Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics 123
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases 117
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 116
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 111
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 108
Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders 104
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study 100
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype 87
Host genetic basis of COVID-19: from methodologies to genes 86
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 85
Vestibular and audiological findings in the Alport syndrome 82
Rare variants modulating phenotype in NF1 carriers 80
Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study 79
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 77
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 74
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males 72
Mapping the human genetic architecture of COVID-19 12
Totale 18.724
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Categoria #
all - tutte 60.436
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 60.436
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021105 0 0 0 0 0 0 0 0 0 0 0 105
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
2025/20268.800 553 1.259 1.306 1.125 1.551 326 1.087 281 360 500 283 169
Totale 18.724