IRIS
BALDASSARRI, MARGHERITA
 Distribuzione geografica
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Continente #
EU - Europa 3.348
NA - Nord America 2.101
AS - Asia 415
AF - Africa 31
SA - Sud America 8
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 4
Totale 5.912
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Nazione #
US - Stati Uniti d'America 2.091
IT - Italia 1.091
IE - Irlanda 590
GB - Regno Unito 561
RU - Federazione Russa 246
SE - Svezia 217
DE - Germania 184
CN - Cina 155
FR - Francia 138
SG - Singapore 114
FI - Finlandia 103
UA - Ucraina 70
IN - India 39
VN - Vietnam 35
ES - Italia 31
CI - Costa d'Avorio 28
NL - Olanda 26
BE - Belgio 21
CZ - Repubblica Ceca 21
TR - Turchia 16
IR - Iran 14
HK - Hong Kong 13
CA - Canada 9
PL - Polonia 9
CH - Svizzera 8
BG - Bulgaria 5
AU - Australia 4
EU - Europa 4
LK - Sri Lanka 4
MK - Macedonia 4
PK - Pakistan 4
AT - Austria 3
CL - Cile 3
DK - Danimarca 3
JP - Giappone 3
LV - Lettonia 3
NO - Norvegia 3
PH - Filippine 3
BR - Brasile 2
CY - Cipro 2
GR - Grecia 2
JO - Giordania 2
KG - Kirghizistan 2
LT - Lituania 2
MY - Malesia 2
PT - Portogallo 2
QA - Qatar 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
ZA - Sudafrica 2
AZ - Azerbaigian 1
BD - Bangladesh 1
EC - Ecuador 1
EG - Egitto 1
HR - Croazia 1
JM - Giamaica 1
MM - Myanmar 1
NZ - Nuova Zelanda 1
PE - Perù 1
SA - Arabia Saudita 1
UZ - Uzbekistan 1
VE - Venezuela 1
Totale 5.912
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Città #
Dublin 576
Southend 508
Chandler 267
Siena 256
Fairfield 233
Ashburn 223
Ann Arbor 136
Woodbridge 117
Houston 98
Cambridge 97
Seattle 97
Singapore 95
Florence 91
Helsinki 87
Milan 86
Wilmington 80
New York 69
Princeton 66
Jacksonville 56
Munich 52
Shanghai 41
Rome 37
Dong Ket 33
Menlo Park 31
Beijing 30
San Diego 29
Abidjan 28
Málaga 28
Boardman 24
Dearborn 24
San Mateo 20
Fremont 19
Los Angeles 19
Washington 19
Brussels 17
Moscow 17
Aachen 16
Nanjing 15
Brno 14
Chicago 14
Nuremberg 13
Brescia 12
Guangzhou 12
Hyderabad 12
Hong Kong 11
Izmir 11
Comun Nuovo 10
Dallas 10
London 10
Naples 10
Redwood City 9
Paris 8
Santa Clara 8
Verona 8
Carrara 7
Lancaster 7
Nanchang 7
Norwalk 7
Pisa 7
Anagni 6
Falls Church 6
Livorno 6
Nijmegen 6
Olomouc 6
Rubano 6
Bologna 5
Catania 5
Catanzaro 5
Espoo 5
Grosseto 5
Migliarino 5
Sesto Fiorentino 5
Sofia 5
Stockholm 5
Tianjin 5
Toronto 5
Zurich 5
Cagliari 4
Casalecchio di Reno 4
Colombo 4
Columbus 4
Fiesole 4
Genoa 4
Hebei 4
Hounslow 4
Indore 4
Jinan 4
Kolkata 4
Padova 4
Poggibonsi 4
Saint-Fons 4
Salerno 4
Sinalunga 4
Waanrode 4
Amsterdam 3
Anguillara Sabazia 3
Bergamo 3
Borgonovo Val Tidone 3
Brindisi 3
Changsha 3
Totale 4.126
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Nome #
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 264
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 252
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 225
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 215
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 203
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 199
Genetic mechanisms of critical illness in COVID-19 199
Alport syndrome: impact of digenic inheritance in patients management 198
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 183
null 182
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 178
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 176
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 158
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 155
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 152
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 150
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 139
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 137
Pathogen-sugar interactions revealed by universal saturation transfer analysis 131
Mapping the human genetic architecture of COVID-19 126
A first update on mapping the human genetic architecture of COVID-19 112
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 107
An explainable model of host genetic interactions linked to COVID-19 severity 103
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 100
CKAP2L mutation confirms the diagnosis of Filippi syndrome 99
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 99
WES profiling of COVID-19 96
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 95
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 92
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 92
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 87
Host genetic basis of COVID-19: from phenotype to genes. 82
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 81
A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings 79
Clinical and molecular characterization of COVID-19 hospitalized patients 79
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 76
SELP Asp603Asn and severe thrombosis in COVID-19 males 76
Natural history of KBG syndrome in a large European cohort 76
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 74
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 73
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay 69
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis 64
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 64
New candidates for autism/intellectual disability identified by whole-exome sequencing 62
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects 61
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 54
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 53
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 52
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 41
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 40
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 40
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 35
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 32
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 25
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 24
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 22
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 19
The 2019 and 2021 International Workshops on Alport Syndrome 12
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males 8
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey 7
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males 4
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 4
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” 4
Correction: The 2019 and 2021 International workshops on Alport syndrome 4
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review 4
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 2
Totale 6.206
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Categoria #
all - tutte 26.949
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 26.949
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020387 0 0 0 0 46 47 49 66 74 40 27 38
2020/2021814 23 40 19 71 46 51 74 68 74 166 109 73
2021/2022839 87 74 47 60 43 35 38 37 51 68 108 191
2022/20231.248 64 120 117 108 85 242 151 135 66 62 57 41
2023/20241.310 53 45 142 81 65 302 343 83 13 51 47 85
2024/2025913 154 119 326 218 96 0 0 0 0 0 0 0
Totale 6.206