IRIS
BALDASSARRI, MARGHERITA
 Distribuzione geografica
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Continente #
EU - Europa 5.998
NA - Nord America 5.155
AS - Asia 2.420
SA - Sud America 496
AF - Africa 71
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 5
Totale 14.152
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Nazione #
US - Stati Uniti d'America 5.062
RU - Federazione Russa 1.573
IT - Italia 1.566
SG - Singapore 785
CN - Cina 735
GB - Regno Unito 657
IE - Irlanda 637
DE - Germania 456
BR - Brasile 433
SE - Svezia 243
FI - Finlandia 238
HK - Hong Kong 237
FR - Francia 191
VN - Vietnam 171
KR - Corea 151
NL - Olanda 103
IN - India 96
UA - Ucraina 85
CA - Canada 52
ES - Italia 52
TR - Turchia 34
CZ - Repubblica Ceca 33
PL - Polonia 33
AT - Austria 32
JP - Giappone 31
CI - Costa d'Avorio 30
MX - Messico 30
BD - Bangladesh 28
IR - Iran 27
BE - Belgio 23
AR - Argentina 22
IQ - Iraq 20
ZA - Sudafrica 20
PK - Pakistan 17
CH - Svizzera 14
EC - Ecuador 11
UZ - Uzbekistan 11
CL - Cile 10
LT - Lituania 9
AE - Emirati Arabi Uniti 8
PH - Filippine 7
SA - Arabia Saudita 7
VE - Venezuela 7
BG - Bulgaria 6
HU - Ungheria 6
MA - Marocco 6
EE - Estonia 5
ID - Indonesia 5
JO - Giordania 5
NO - Norvegia 5
PY - Paraguay 5
AU - Australia 4
DK - Danimarca 4
EU - Europa 4
LK - Sri Lanka 4
MK - Macedonia 4
PE - Perù 4
AZ - Azerbaigian 3
CY - Cipro 3
EG - Egitto 3
KE - Kenya 3
KZ - Kazakistan 3
LV - Lettonia 3
MY - Malesia 3
PT - Portogallo 3
SN - Senegal 3
AL - Albania 2
AM - Armenia 2
BH - Bahrain 2
CO - Colombia 2
GE - Georgia 2
GR - Grecia 2
HN - Honduras 2
HR - Croazia 2
IL - Israele 2
KG - Kirghizistan 2
KW - Kuwait 2
NP - Nepal 2
NR - Nauru 2
PA - Panama 2
PS - Palestinian Territory 2
QA - Qatar 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
SY - Repubblica araba siriana 2
TN - Tunisia 2
TT - Trinidad e Tobago 2
TW - Taiwan 2
UY - Uruguay 2
BA - Bosnia-Erzegovina 1
BY - Bielorussia 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
ET - Etiopia 1
GI - Gibilterra 1
GT - Guatemala 1
IS - Islanda 1
JM - Giamaica 1
KH - Cambogia 1
Totale 14.138
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Città #
Dallas 1.578
Dublin 623
Southend 526
Singapore 522
Moscow 505
Ashburn 445
Santa Clara 290
Siena 287
Chandler 279
Fairfield 246
Munich 235
Hong Kong 232
Milan 224
Hefei 187
Beijing 182
Helsinki 154
Ann Arbor 150
Seoul 147
Woodbridge 129
Florence 112
Los Angeles 111
Houston 109
Seattle 104
Cambridge 101
New York 101
Wilmington 84
Rome 78
Princeton 68
Jacksonville 61
São Paulo 52
Shanghai 50
Chicago 45
Turku 43
Ho Chi Minh City 42
Nuremberg 38
Menlo Park 35
Boardman 33
Dong Ket 33
Brescia 32
Abidjan 30
Council Bluffs 30
Málaga 30
Lauterbourg 29
San Diego 29
Dearborn 27
Hanoi 27
Bengaluru 26
Buffalo 26
The Dalles 26
Tokyo 25
Düsseldorf 24
Warsaw 24
Washington 24
Lappeenranta 22
San Mateo 22
Redondo Beach 21
Guangzhou 20
Brooklyn 19
Brussels 19
Denver 19
Fremont 19
London 19
Stockholm 19
Brno 17
Nanjing 17
Phoenix 17
Aachen 16
Frankfurt am Main 16
Portsmouth 16
Vienna 15
Amsterdam 14
Lancaster 14
Toronto 14
Boston 13
Hyderabad 13
Montreal 13
Bologna 12
Chennai 12
Paris 12
Izmir 11
Johannesburg 11
Olomouc 11
Orem 11
Piscataway 11
Atlanta 10
Comun Nuovo 10
Haiphong 10
Mexico City 10
Naples 10
Poplar 10
Rio de Janeiro 10
Tehran 10
Ankara 9
Newark 9
Pisa 9
Redwood City 9
Tashkent 9
Tianjin 9
Verona 9
Brasília 8
Totale 9.286
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Nome #
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 550
A first update on mapping the human genetic architecture of COVID-19 542
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 463
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 458
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 334
Genetic mechanisms of critical illness in COVID-19 334
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 331
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 328
An explainable model of host genetic interactions linked to COVID-19 severity 327
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 315
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 291
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 289
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 288
Alport syndrome: impact of digenic inheritance in patients management 282
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 280
Pathogen-sugar interactions revealed by universal saturation transfer analysis 274
Mapping the human genetic architecture of COVID-19 269
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 266
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 246
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 237
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 236
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 232
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 228
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 221
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 215
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 206
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 202
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 199
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 198
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 198
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 192
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 186
WES profiling of COVID-19 184
null 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 182
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 180
A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings 178
Host genetic basis of COVID-19: from phenotype to genes. 176
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 169
CKAP2L mutation confirms the diagnosis of Filippi syndrome 168
Clinical and molecular characterization of COVID-19 hospitalized patients 168
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 157
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 149
Whole-genome sequencing reveals host factors underlying critical COVID-19 146
New candidates for autism/intellectual disability identified by whole-exome sequencing 146
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 144
SELP Asp603Asn and severe thrombosis in COVID-19 males 143
Natural history of KBG syndrome in a large European cohort 142
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 140
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 139
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 134
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis 132
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males 129
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 127
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 126
AUTS2-related syndrome: Insights from a large European cohort 125
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay 123
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey 122
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 120
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 115
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 114
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 109
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 107
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 107
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects 104
Correction: The 2019 and 2021 International workshops on Alport syndrome 103
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH). 99
The 2019 and 2021 International Workshops on Alport Syndrome 95
In response to the letter to the editor by Soha Ghanian et al. re our publication “Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males” 88
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review 82
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
Rare variants modulating phenotype in NF1 carriers 13
Totale 14.503
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Categoria #
all - tutte 48.796
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 48.796
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021631 0 0 0 0 0 54 76 71 76 169 110 75
2021/2022859 90 77 49 63 43 35 40 37 51 70 110 194
2022/20231.311 66 123 119 122 89 250 162 142 74 64 57 43
2023/20241.386 55 46 155 83 69 319 367 84 14 55 51 88
2024/20253.286 156 127 348 232 357 243 291 219 260 166 317 570
2025/20265.635 503 1.149 1.249 1.044 1.459 231 0 0 0 0 0 0
Totale 14.503