IRIS
BALDASSARRI, MARGHERITA
 Distribuzione geografica
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Continente #
EU - Europa 6.521
NA - Nord America 6.159
AS - Asia 3.288
SA - Sud America 569
AF - Africa 196
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 5
Totale 16.749
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Nazione #
US - Stati Uniti d'America 6.022
IT - Italia 1.812
RU - Federazione Russa 1.576
SG - Singapore 912
CN - Cina 814
GB - Regno Unito 688
IE - Irlanda 641
VN - Vietnam 524
BR - Brasile 482
DE - Germania 480
HK - Hong Kong 318
FR - Francia 289
FI - Finlandia 260
SE - Svezia 244
KR - Corea 153
BD - Bangladesh 142
NL - Olanda 133
IN - India 119
UA - Ucraina 97
ZA - Sudafrica 95
CA - Canada 78
ES - Italia 57
PL - Polonia 43
JP - Giappone 42
TR - Turchia 42
AT - Austria 37
CZ - Repubblica Ceca 33
MX - Messico 33
CI - Costa d'Avorio 31
IQ - Iraq 30
AR - Argentina 27
IR - Iran 27
CH - Svizzera 25
PK - Pakistan 25
BE - Belgio 23
NG - Nigeria 18
UZ - Uzbekistan 17
EC - Ecuador 15
ID - Indonesia 14
CL - Cile 13
PH - Filippine 12
SA - Arabia Saudita 12
VE - Venezuela 12
KE - Kenya 11
AE - Emirati Arabi Uniti 10
HU - Ungheria 10
LT - Lituania 10
MY - Malesia 10
EG - Egitto 9
MA - Marocco 8
AU - Australia 7
BG - Bulgaria 7
PY - Paraguay 7
CO - Colombia 6
JO - Giordania 6
KZ - Kazakistan 6
NO - Norvegia 6
EE - Estonia 5
GR - Grecia 5
NP - Nepal 5
PE - Perù 5
PT - Portogallo 5
RO - Romania 5
TN - Tunisia 5
CR - Costa Rica 4
CY - Cipro 4
DK - Danimarca 4
ET - Etiopia 4
EU - Europa 4
HN - Honduras 4
HR - Croazia 4
IL - Israele 4
JM - Giamaica 4
LK - Sri Lanka 4
LV - Lettonia 4
MK - Macedonia 4
PA - Panama 4
AL - Albania 3
AZ - Azerbaigian 3
DZ - Algeria 3
KG - Kirghizistan 3
QA - Qatar 3
SN - Senegal 3
SY - Repubblica araba siriana 3
TH - Thailandia 3
TT - Trinidad e Tobago 3
AM - Armenia 2
AO - Angola 2
BB - Barbados 2
BH - Bahrain 2
BY - Bielorussia 2
GE - Georgia 2
KW - Kuwait 2
LB - Libano 2
NR - Nauru 2
OM - Oman 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
TW - Taiwan 2
UY - Uruguay 2
Totale 16.722
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Città #
Dallas 1.588
Dublin 626
Singapore 581
Southend 526
Moscow 505
Ashburn 502
San Jose 350
Santa Clara 308
Hong Kong 294
Siena 289
Chandler 279
Milan 253
Fairfield 247
Munich 235
Hefei 214
Los Angeles 185
Beijing 182
Helsinki 174
Council Bluffs 168
Ho Chi Minh City 151
Ann Arbor 150
Seoul 148
Woodbridge 129
New York 120
Florence 119
Hanoi 114
Houston 112
Seattle 106
Cambridge 101
Rome 92
Lauterbourg 90
Johannesburg 86
Wilmington 84
The Dalles 81
Princeton 68
Jacksonville 61
São Paulo 57
Shanghai 54
Chicago 48
Turku 43
Nuremberg 38
Orem 38
Menlo Park 35
Boardman 34
Buffalo 34
Frankfurt am Main 34
Dong Ket 33
Brescia 32
Tokyo 32
Abidjan 31
Warsaw 31
Málaga 30
San Diego 30
London 29
Haiphong 28
Dearborn 27
Bengaluru 26
Washington 26
Da Nang 25
Düsseldorf 24
Lappeenranta 24
Toronto 24
Brooklyn 22
Chennai 22
San Mateo 22
Denver 21
Montreal 21
Redondo Beach 21
Amsterdam 20
Guangzhou 20
Paris 20
Stockholm 20
Brussels 19
Fremont 19
Phoenix 19
Vienna 18
Abuja 17
Brno 17
Nanjing 17
Naples 17
Piscataway 17
Zurich 17
Aachen 16
Portsmouth 16
Rio de Janeiro 15
Bologna 14
Boston 14
Hải Dương 14
Lancaster 14
Tashkent 14
Can Tho 13
Hyderabad 13
Newark 13
Turin 13
Baghdad 12
City of London 12
Izmir 12
Atlanta 11
Olomouc 11
Biên Hòa 10
Totale 10.808
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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
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
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 345
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 325
null 320
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
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 306
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 303
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 298
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
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 285
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 258
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 255
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
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 244
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 237
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 234
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 229
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 221
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 216
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 214
AUTS2-related syndrome: Insights from a large European cohort 211
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
WES profiling of COVID-19 206
Host genetic basis of COVID-19: from phenotype to genes. 204
Whole-genome sequencing reveals host factors underlying critical COVID-19 201
A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings 199
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 198
Clinical and molecular characterization of COVID-19 hospitalized patients 194
CKAP2L mutation confirms the diagnosis of Filippi syndrome 191
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
null 182
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 180
Natural history of KBG syndrome in a large European cohort 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
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 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
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 159
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
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 151
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay 148
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey 147
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis 147
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 146
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 139
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects 132
Correction: The 2019 and 2021 International workshops on Alport syndrome 130
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 122
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH). 121
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” 117
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 116
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review 114
The 2019 and 2021 International Workshops on Alport Syndrome 113
Rare variants modulating phenotype in NF1 carriers 80
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 77
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males 72
Mapping the human genetic architecture of COVID-19 12
Totale 17.100
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Categoria #
all - tutte 55.040
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 55.040
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202175 0 0 0 0 0 0 0 0 0 0 0 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
2025/20268.232 503 1.149 1.249 1.044 1.459 299 1.048 250 335 440 292 164
Totale 17.100