BALDASSARRI, MARGHERITA
 Distribuzione geografica
Continente #
EU - Europa 3.030
NA - Nord America 2.174
AS - Asia 321
OC - Oceania 5
AF - Africa 4
Continente sconosciuto - Info sul continente non disponibili 4
SA - Sud America 3
Totale 5.541
Nazione #
US - Stati Uniti d'America 2.164
IT - Italia 951
IE - Irlanda 661
GB - Regno Unito 578
SE - Svezia 227
DE - Germania 147
CN - Cina 144
FR - Francia 141
FI - Finlandia 87
UA - Ucraina 72
SG - Singapore 45
ES - Italia 37
VN - Vietnam 35
IN - India 31
RU - Federazione Russa 27
CZ - Repubblica Ceca 26
BE - Belgio 18
NL - Olanda 16
TR - Turchia 16
IR - Iran 14
HK - Hong Kong 12
CA - Canada 9
PL - Polonia 8
CH - Svizzera 6
BG - Bulgaria 5
PK - Pakistan 5
AU - Australia 4
EU - Europa 4
MK - Macedonia 4
AT - Austria 3
JP - Giappone 3
PH - Filippine 3
RO - Romania 3
CL - Cile 2
CY - Cipro 2
GR - Grecia 2
LK - Sri Lanka 2
LT - Lituania 2
MY - Malesia 2
QA - Qatar 2
SK - Slovacchia (Repubblica Slovacca) 2
ZA - Sudafrica 2
AL - Albania 1
AZ - Azerbaigian 1
BD - Bangladesh 1
CR - Costa Rica 1
DK - Danimarca 1
EE - Estonia 1
EG - Egitto 1
IS - Islanda 1
KG - Kirghizistan 1
LV - Lettonia 1
MA - Marocco 1
MM - Myanmar 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
UZ - Uzbekistan 1
VE - Venezuela 1
Totale 5.541
Città #
Dublin 646
Southend 526
Chandler 282
Ashburn 244
Fairfield 238
Siena 223
Ann Arbor 140
Woodbridge 119
Cambridge 99
Houston 99
Seattle 99
Florence 88
Wilmington 84
New York 81
Helsinki 77
Princeton 69
Milan 67
Jacksonville 56
Shanghai 45
Rome 35
Málaga 34
Dong Ket 33
Menlo Park 31
San Diego 29
Beijing 28
Singapore 28
Boardman 27
Dearborn 24
Washington 23
San Mateo 21
Fremont 20
Aachen 18
Brno 18
Moscow 18
Chicago 16
Los Angeles 15
Nanjing 15
Brussels 14
Munich 13
Guangzhou 12
Hyderabad 12
Izmir 11
Comun Nuovo 10
Hong Kong 10
London 10
Verona 10
Redwood City 9
Naples 8
Olomouc 8
Padova 8
Brescia 7
Brindisi 7
Carrara 7
Lancaster 7
Nanchang 7
Norwalk 7
Falls Church 6
Livorno 6
Nijmegen 6
Paris 6
Pisa 6
Rubano 6
Bologna 5
Catania 5
Grosseto 5
Migliarino 5
Rieti 5
Sesto Fiorentino 5
Sofia 5
Tianjin 5
Toronto 5
Bonndorf 4
Cagliari 4
Casalecchio di Reno 4
Fiesole 4
Gdynia 4
Genoa 4
Hebei 4
Hounslow 4
Jinan 4
Poggibonsi 4
Prato 4
Pune 4
Saint-Fons 4
Salerno 4
Sinalunga 4
Waanrode 4
Amsterdam 3
Anguillara Sabazia 3
Bergamo 3
Borgonovo Val Tidone 3
Changsha 3
Clifton 3
Falkenstein 3
Ferrara di Monte Baldo 3
Guagnano 3
Kunming 3
Madison 3
Massa 3
Monteriggioni 3
Totale 4.076
Nome #
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 256
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 243
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 218
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 206
Alport syndrome: impact of digenic inheritance in patients management 191
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 190
null 182
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 180
Genetic mechanisms of critical illness in COVID-19 175
null 171
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 170
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 169
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 154
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 149
null 135
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 131
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 127
null 115
Pathogen-sugar interactions revealed by universal saturation transfer analysis 107
Mapping the human genetic architecture of COVID-19 107
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 102
CKAP2L mutation confirms the diagnosis of Filippi syndrome 96
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 93
A first update on mapping the human genetic architecture of COVID-19 91
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 90
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 83
WES profiling of COVID-19 83
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 79
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 77
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes 77
null 75
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 75
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 72
An explainable model of host genetic interactions linked to COVID-19 severity 71
A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings 68
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 68
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 67
SELP Asp603Asn and severe thrombosis in COVID-19 males 67
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 66
Host genetic basis of COVID-19: from phenotype to genes. 65
null 62
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay 61
Natural history of KBG syndrome in a large European cohort 61
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects 56
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis 55
New candidates for autism/intellectual disability identified by whole-exome sequencing 55
null 48
Whole-genome sequencing reveals host factors underlying critical COVID-19 45
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 43
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 42
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women 38
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 35
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 33
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 32
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 32
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 28
Clinical and molecular characterization of COVID-19 hospitalized patients 28
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 23
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 17
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 11
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 10
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 9
The 2019 and 2021 International Workshops on Alport Syndrome 6
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 4
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 3
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 3
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 3
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males 3
Totale 5.787
Categoria #
all - tutte 23.778
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 23.778


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020558 54 22 28 67 46 47 49 66 74 40 27 38
2020/2021851 28 41 23 77 46 54 76 74 77 171 109 75
2021/2022876 90 75 50 65 44 39 40 38 52 70 115 198
2022/20231.330 66 129 124 113 89 248 149 145 93 69 62 43
2023/20241.526 58 49 158 93 74 351 395 95 18 69 64 102
2024/2025122 122 0 0 0 0 0 0 0 0 0 0 0
Totale 5.787