BALDASSARRI, MARGHERITA
 Distribuzione geografica
Continente #
EU - Europa 2.973
NA - Nord America 2.165
AS - Asia 266
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 3
SA - Sud America 3
Totale 5.414
Nazione #
US - Stati Uniti d'America 2.155
IT - Italia 854
IE - Irlanda 675
GB - Regno Unito 585
SE - Svezia 229
CN - Cina 147
FR - Francia 145
DE - Germania 131
BE - Belgio 106
FI - Finlandia 87
UA - Ucraina 72
ES - Italia 37
VN - Vietnam 33
IN - India 28
TR - Turchia 16
NL - Olanda 14
IR - Iran 13
CA - Canada 10
HK - Hong Kong 8
PL - Polonia 8
CH - Svizzera 7
RU - Federazione Russa 7
PK - Pakistan 5
EU - Europa 4
MK - Macedonia 4
AT - Austria 3
AU - Australia 3
JP - Giappone 3
PH - Filippine 3
CL - Cile 2
CY - Cipro 2
CZ - Repubblica Ceca 2
GR - Grecia 2
LK - Sri Lanka 2
MY - Malesia 2
QA - Qatar 2
RO - Romania 2
MM - Myanmar 1
NO - Norvegia 1
PT - Portogallo 1
SG - Singapore 1
SK - Slovacchia (Repubblica Slovacca) 1
VE - Venezuela 1
Totale 5.414
Città #
Dublin 660
Southend 529
Chandler 291
Ashburn 250
Fairfield 239
Siena 202
Ann Arbor 141
Woodbridge 119
Brussels 102
Cambridge 99
Houston 99
Seattle 99
Wilmington 84
New York 82
Helsinki 77
Princeton 71
Milan 62
Florence 59
Jacksonville 56
Shanghai 50
Málaga 35
Dong Ket 33
Rome 32
Menlo Park 31
San Diego 30
Beijing 28
Dearborn 24
Washington 24
Fremont 22
San Mateo 21
Aachen 18
Boardman 18
Nanjing 15
Guangzhou 11
Hyderabad 11
Izmir 11
London 11
Comun Nuovo 10
Chicago 9
Redwood City 9
Naples 8
Verona 8
Brescia 7
Brindisi 7
Carrara 7
Lancaster 7
Nanchang 7
Norwalk 7
Falls Church 6
Grosseto 6
Hong Kong 6
Nijmegen 6
Paris 6
Rubano 6
Toronto 6
Bologna 5
Catania 5
Gdynia 5
Hounslow 5
Pisa 5
Rieti 5
Sesto Fiorentino 5
Tianjin 5
Bonndorf 4
Cagliari 4
Casalecchio di Reno 4
Fiesole 4
Hebei 4
Jinan 4
Noceto 4
Padova 4
Poggibonsi 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
Phoenix 3
Pistoia 3
Shenyang 3
Strada in Chianti 3
Torino 3
Turin 3
Uzzano 3
Vienna 3
Zanjan 3
Totale 4.039
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. 239
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 220
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 205
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 189
Alport syndrome: impact of digenic inheritance in patients management 187
null 182
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 175
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 173
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 171
Genetic mechanisms of critical illness in COVID-19 171
null 170
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 157
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 125
null 115
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 97
CKAP2L mutation confirms the diagnosis of Filippi syndrome 94
Mapping the human genetic architecture of COVID-19 89
A first update on mapping the human genetic architecture of COVID-19 87
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 86
WES profiling of COVID-19 81
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
Pathogen-sugar interactions revealed by universal saturation transfer analysis 79
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 78
An explainable model of host genetic interactions linked to COVID-19 severity 75
null 75
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes 75
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 74
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 67
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 67
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
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 63
SELP Asp603Asn and severe thrombosis in COVID-19 males 62
null 61
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 61
Exome sequencing in 200 intellectual disability/autistic patients: New candidates and atypical presentations 59
Natural history of KBG syndrome in a large European cohort 58
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects 56
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay. 55
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis 54
Host genetic basis of COVID-19: from phenotype to genes. 52
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing 51
null 48
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 46
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 44
Whole-genome sequencing reveals host factors underlying critical COVID-19 37
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 36
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 31
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 30
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women 30
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 29
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay. 26
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 18
The 2019 and 2021 International Workshops on Alport Syndrome 4
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 2
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 1
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 1
Totale 5.633
Categoria #
all - tutte 20.527
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 20.527


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019259 0 0 0 0 0 0 0 26 14 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
2022/20231.427 72 136 129 121 95 251 164 157 109 73 76 44
2023/20241.366 60 76 167 98 102 359 406 98 0 0 0 0
Totale 5.633