IRIS
BALDASSARRI, MARGHERITA
 Distribuzione geografica
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Continente #
EU - Europa 6.917
NA - Nord America 6.631
AS - Asia 3.309
SA - Sud America 570
Continente sconosciuto - Info sul continente non disponibili 359
AF - Africa 198
OC - Oceania 11
Totale 17.995
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Nazione #
US - Stati Uniti d'America 6.467
IT - Italia 2.197
RU - Federazione Russa 1.576
SG - Singapore 913
CN - Cina 818
GB - Regno Unito 688
IE - Irlanda 641
VN - Vietnam 524
BR - Brasile 483
DE - Germania 480
HK - Hong Kong 322
FR - Francia 289
FI - Finlandia 261
SE - Svezia 249
KR - Corea 153
BD - Bangladesh 151
NL - Olanda 136
IN - India 120
UA - Ucraina 97
ZA - Sudafrica 95
CA - Canada 92
ES - Italia 57
PL - Polonia 43
JP - Giappone 42
TR - Turchia 42
AT - Austria 37
MX - Messico 34
CZ - Repubblica Ceca 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 13
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
CR - Costa Rica 7
PY - Paraguay 7
CO - Colombia 6
JM - Giamaica 6
JO - Giordania 6
KZ - Kazakistan 6
NO - Norvegia 6
NP - Nepal 6
EE - Estonia 5
GR - Grecia 5
PE - Perù 5
PT - Portogallo 5
RO - Romania 5
TN - Tunisia 5
TT - Trinidad e Tobago 5
CY - Cipro 4
DK - Danimarca 4
ET - Etiopia 4
EU - Europa 4
HN - Honduras 4
HR - Croazia 4
IL - Israele 4
LK - Sri Lanka 4
LV - Lettonia 4
MK - Macedonia 4
PA - Panama 4
AL - Albania 3
AZ - Azerbaigian 3
DZ - Algeria 3
GT - Guatemala 3
KG - Kirghizistan 3
QA - Qatar 3
RS - Serbia 3
SC - Seychelles 3
SN - Senegal 3
SY - Repubblica araba siriana 3
TH - Thailandia 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
Totale 17.608
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Città #
Dallas 1.598
Dublin 626
Singapore 582
Ashburn 531
Southend 526
Moscow 505
Milan 435
San Jose 397
Santa Clara 341
Hong Kong 298
Siena 290
Chandler 279
Council Bluffs 262
Fairfield 247
Munich 235
Hefei 214
Los Angeles 189
Beijing 184
Helsinki 174
Rome 158
Ho Chi Minh City 151
Ann Arbor 150
Seoul 148
New York 129
Woodbridge 129
Florence 125
Seattle 120
Hanoi 114
Houston 113
Cambridge 101
Lauterbourg 90
Johannesburg 86
Wilmington 84
The Dalles 81
Princeton 68
Jacksonville 62
São Paulo 58
Shanghai 55
Chicago 52
Turku 43
Nuremberg 38
Orem 38
Buffalo 35
Columbus 35
Menlo Park 35
Boardman 34
Frankfurt am Main 34
Dong Ket 33
Brescia 32
Tokyo 32
Abidjan 31
Warsaw 31
Málaga 30
San Diego 30
London 29
Naples 29
Haiphong 28
Dearborn 27
Bengaluru 26
Toronto 26
Washington 26
Da Nang 25
Phoenix 25
Düsseldorf 24
Lappeenranta 24
Brooklyn 23
Chennai 22
Denver 22
Figino 22
San Mateo 22
Montreal 21
Redondo Beach 21
Amsterdam 20
Bologna 20
Boston 20
Fremont 20
Guangzhou 20
Paris 20
Stockholm 20
Turin 20
Brussels 19
Vienna 18
Abuja 17
Brno 17
Nanjing 17
Piscataway 17
Portsmouth 17
Zurich 17
Aachen 16
Newark 16
Rio de Janeiro 15
Hải Dương 14
Lancaster 14
Tashkent 14
Can Tho 13
Hyderabad 13
Baghdad 12
City of London 12
Izmir 12
Atlanta 11
Totale 11.401
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Nome #
A first update on mapping the human genetic architecture of COVID-19 601
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 592
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 534
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 508
Genetic mechanisms of critical illness in COVID-19 452
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 440
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 393
An explainable model of host genetic interactions linked to COVID-19 severity 386
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 382
Pathogen-sugar interactions revealed by universal saturation transfer analysis 374
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 358
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 357
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 355
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 329
Alport syndrome: impact of digenic inheritance in patients management 327
Mapping the human genetic architecture of COVID-19 325
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 319
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 319
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 313
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 309
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 304
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 302
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 284
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 268
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 260
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 259
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 257
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 249
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 248
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 247
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 229
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 224
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 223
AUTS2-related syndrome: Insights from a large European cohort 221
Whole-genome sequencing reveals host factors underlying critical COVID-19 218
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 218
A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings 215
WES profiling of COVID-19 215
Host genetic basis of COVID-19: from phenotype to genes. 214
Clinical and molecular characterization of COVID-19 hospitalized patients 207
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 202
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 201
New candidates for autism/intellectual disability identified by whole-exome sequencing 198
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 196
CKAP2L mutation confirms the diagnosis of Filippi syndrome 195
Natural history of KBG syndrome in a large European cohort 192
null 182
SELP Asp603Asn and severe thrombosis in COVID-19 males 179
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 176
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 176
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 173
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 172
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 172
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 163
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 161
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 160
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males 159
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 158
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects 158
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay 158
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey 157
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis 157
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 151
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH). 135
Correction: The 2019 and 2021 International workshops on Alport syndrome 135
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” 132
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review 131
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 125
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 119
Rare variants modulating phenotype in NF1 carriers 93
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 88
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males 76
Totale 17.995
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Categoria #
all - tutte 57.899
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 57.899
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022769 0 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
2025/20268.583 503 1.149 1.249 1.044 1.459 299 1.048 250 335 435 288 524
2026/2027544 370 174 0 0 0 0 0 0 0 0 0 0
Totale 17.995