BALDASSARRI, MARGHERITA
 Distribuzione geografica
Continente #
EU - Europa 2.936
NA - Nord America 2.177
AS - Asia 267
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 4
SA - Sud America 3
Totale 5.391
Nazione #
US - Stati Uniti d'America 2.167
IT - Italia 898
IE - Irlanda 675
GB - Regno Unito 582
SE - Svezia 229
FR - Francia 146
CN - Cina 144
DE - Germania 130
FI - Finlandia 89
UA - Ucraina 72
ES - Italia 37
VN - Vietnam 33
IN - India 28
BE - Belgio 18
TR - Turchia 16
NL - Olanda 14
IR - Iran 13
CA - Canada 10
HK - Hong Kong 10
PL - Polonia 8
RU - Federazione Russa 8
CH - Svizzera 7
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
MY - Malesia 2
QA - Qatar 2
AZ - Azerbaigian 1
BD - Bangladesh 1
DK - Danimarca 1
EE - Estonia 1
LT - Lituania 1
MM - Myanmar 1
NO - Norvegia 1
PT - Portogallo 1
SG - Singapore 1
SK - Slovacchia (Repubblica Slovacca) 1
VE - Venezuela 1
Totale 5.391
Città #
Dublin 660
Southend 529
Chandler 291
Ashburn 250
Fairfield 239
Siena 211
Ann Arbor 141
Woodbridge 119
Cambridge 99
Houston 99
Seattle 99
Wilmington 84
New York 82
Florence 80
Helsinki 79
Princeton 71
Milan 62
Jacksonville 56
Shanghai 47
Málaga 35
Rome 34
Dong Ket 33
Menlo Park 31
San Diego 30
Beijing 28
Dearborn 24
Washington 24
Fremont 22
San Mateo 21
Aachen 18
Boardman 18
Los Angeles 15
Nanjing 15
Brussels 14
Guangzhou 11
Hyderabad 11
Izmir 11
Comun Nuovo 10
London 10
Redwood City 9
Chicago 8
Hong Kong 8
Naples 8
Verona 8
Brescia 7
Brindisi 7
Carrara 7
Lancaster 7
Nanchang 7
Norwalk 7
Falls Church 6
Grosseto 6
Nijmegen 6
Padova 6
Paris 6
Rubano 6
Toronto 6
Bologna 5
Catania 5
Gdynia 5
Pisa 5
Rieti 5
Sesto Fiorentino 5
Sofia 5
Tianjin 5
Bonndorf 4
Cagliari 4
Casalecchio di Reno 4
Fiesole 4
Hebei 4
Hounslow 4
Jinan 4
Noceto 4
Poggibonsi 4
Prato 4
Pune 4
Saint-Fons 4
Salerno 4
Sinalunga 4
Waanrode 4
Amsterdam 3
Anguillara Sabazia 3
Arese 3
Bergamo 3
Borgonovo Val Tidone 3
Changsha 3
Chieti 3
Falkenstein 3
Ferrara di Monte Baldo 3
Guagnano 3
Kunming 3
Madison 3
Massa 3
Monteriggioni 3
Palermo 3
Phoenix 3
Pistoia 3
Shenyang 3
Strada in Chianti 3
Torino 3
Totale 3.998
Nome #
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 255
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 240
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 216
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 204
Alport syndrome: impact of digenic inheritance in patients management 189
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 187
null 182
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 176
Genetic mechanisms of critical illness in COVID-19 171
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 170
null 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 153
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 148
null 134
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 128
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 119
null 114
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males. 109
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 98
CKAP2L mutation confirms the diagnosis of Filippi syndrome 95
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 90
Mapping the human genetic architecture of COVID-19 90
Pathogen-sugar interactions revealed by universal saturation transfer analysis 83
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 83
WES profiling of COVID-19 81
A first update on mapping the human genetic architecture of COVID-19 80
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 80
null 75
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes 75
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 73
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 72
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 69
An explainable model of host genetic interactions linked to COVID-19 severity 68
A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings 63
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 63
SELP Asp603Asn and severe thrombosis in COVID-19 males 63
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 63
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 62
null 61
Exome sequencing in 200 intellectual disability/autistic patients: New candidates and atypical presentations 60
Natural history of KBG syndrome in a large European cohort 59
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
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay. 54
Host genetic basis of COVID-19: from phenotype to genes. 54
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing 51
null 48
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 38
Whole-genome sequencing reveals host factors underlying critical COVID-19 38
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 36
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 32
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 32
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women 30
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 28
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 28
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 27
Clinical and molecular characterization of COVID-19 hospitalized patients 26
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 20
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 11
The 2019 and 2021 International Workshops on Alport Syndrome 6
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 4
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 3
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 2
Totale 5.619
Categoria #
all - tutte 21.942
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 21.942


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019219 0 0 0 0 0 0 0 0 0 51 104 64
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
2021/2022907 90 75 50 65 44 42 44 43 56 70 123 205
2022/20231.384 72 136 129 121 95 251 158 148 97 70 64 43
2023/20241.395 58 49 165 95 76 359 406 99 19 69 0 0
Totale 5.619