IRIS
FRULLANTI, ELISA
 Distribuzione geografica
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Continente #
EU - Europa 4.219
NA - Nord America 3.864
AS - Asia 469
OC - Oceania 8
AF - Africa 5
SA - Sud America 5
Continente sconosciuto - Info sul continente non disponibili 4
Totale 8.574
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Nazione #
US - Stati Uniti d'America 3.850
GB - Regno Unito 1.126
IT - Italia 989
IE - Irlanda 780
SE - Svezia 321
FR - Francia 279
CN - Cina 265
DE - Germania 234
UA - Ucraina 196
FI - Finlandia 106
VN - Vietnam 55
RU - Federazione Russa 47
ES - Italia 44
SG - Singapore 43
IN - India 29
TR - Turchia 25
BE - Belgio 20
CZ - Repubblica Ceca 20
IR - Iran 17
CA - Canada 13
NL - Olanda 13
HK - Hong Kong 9
CH - Svizzera 8
AU - Australia 7
BG - Bulgaria 5
PL - Polonia 5
AT - Austria 4
EU - Europa 4
JP - Giappone 4
MK - Macedonia 4
MA - Marocco 3
RO - Romania 3
AL - Albania 2
CL - Cile 2
CY - Cipro 2
EE - Estonia 2
EG - Egitto 2
IL - Israele 2
MY - Malesia 2
PH - Filippine 2
PK - Pakistan 2
PT - Portogallo 2
QA - Qatar 2
SK - Slovacchia (Repubblica Slovacca) 2
AM - Armenia 1
AR - Argentina 1
AZ - Azerbaigian 1
BD - Bangladesh 1
BR - Brasile 1
CR - Costa Rica 1
DK - Danimarca 1
GE - Georgia 1
GR - Grecia 1
HU - Ungheria 1
ID - Indonesia 1
IS - Islanda 1
KG - Kirghizistan 1
LK - Sri Lanka 1
LT - Lituania 1
LV - Lettonia 1
MM - Myanmar 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
SA - Arabia Saudita 1
UZ - Uzbekistan 1
VE - Venezuela 1
Totale 8.574
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Città #
Southend 1.027
Dublin 761
Fairfield 589
Chandler 413
Ashburn 394
Woodbridge 274
Siena 231
Cambridge 222
Houston 210
Seattle 208
Wilmington 192
Ann Arbor 187
Jacksonville 154
New York 97
Princeton 95
Helsinki 76
Florence 73
Beijing 67
Milan 65
Dong Ket 55
Nanjing 54
Boardman 44
San Mateo 44
San Diego 42
Dearborn 41
Rome 38
Lancaster 35
Moscow 32
Málaga 32
Shanghai 31
Washington 31
Singapore 25
Menlo Park 24
Fremont 20
Aachen 19
Brussels 17
Chicago 17
Padova 17
Izmir 16
London 16
Shenyang 15
Munich 14
Brno 13
Hebei 12
Norwalk 12
Guangzhou 11
Hyderabad 11
Jinan 11
Los Angeles 11
Nanchang 11
Redwood City 11
Comun Nuovo 10
Phoenix 10
Tianjin 9
Brescia 7
Brindisi 7
Carrara 7
Empoli 7
Napoli 7
Pisa 7
Naples 6
Paris 6
Zanjan 6
Amsterdam 5
Bologna 5
Esslingen am Neckar 5
Falls Church 5
Kunming 5
Loro Ciuffenna 5
Rieti 5
Sofia 5
Toronto 5
Venice 5
Verona 5
Camden 4
Casalecchio di Reno 4
Fiesole 4
Genova 4
Hangzhou 4
Hong Kong 4
Jiaxing 4
Olomouc 4
Poggibonsi 4
Rimini 4
Salerno 4
Vienna 4
Zhengzhou 4
Anguillara Sabazia 3
Bangalore 3
Bergamo 3
Bolzano 3
Bonndorf 3
Borgonovo Val Tidone 3
Changsha 3
Cossato 3
Falkenstein 3
Farra di Soligo 3
Ferrara di Monte Baldo 3
Gdynia 3
Guagnano 3
Totale 6.352
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Nome #
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 277
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 256
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 238
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
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 201
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 200
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 193
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 193
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene 192
Alport syndrome: impact of digenic inheritance in patients management 191
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
Analysis of the Phenotypes in the Rett Networked Database 173
null 171
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 169
Commentary: Potential links between hepadnavirus and bornavirus sequences in the host genome and cancer 155
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 152
A polygenic model with common variants may predict lung adenocarcinoma risk in humans 152
Multiple genetic loci modulate lung adenocarcinoma clinical staging 150
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 149
Genome-wide association study in discordant sibships identifies multiple inherited susceptibility alleles linked to lung cancer 145
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 144
Association of lung adenocarcinoma clinical stage with gene expression pattern in noninvolved lung tissue 141
Germline polymorphisms and survival of lung adenocarcinoma patients: A genome-wide study in two European patient series 139
FGFR4 Gly388Arg polymorphism may affect the clinical stage of patients with lung cancer by modulating the transcriptional profile of normal lung 137
A 5'-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A 135
null 135
null 133
Gene expression signature of non-involved lung tissue associated with survival in lung adenocarcinoma patients 131
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 131
Germline mutations in lung cancer and personalized medicine 131
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 130
Transcription deregulation at the 15q25 locus in association with lung adenocarcinoma risk 127
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 127
Mouse Pulmonary Adenoma Susceptibility 1 Locus Is an Expression QTL Modulating Kras-4A 126
Authors' reply: Comment to "Vinyl chloride exposure and cirrhosis: A systematic review and meta-analysis" 125
Promoter polymorphisms and transcript levels of nicotinic receptor CHRNA5 124
AAV-mediated FOXG1 gene editing in human Rett primary cells 122
null 115
Mapping the human genetic architecture of COVID-19 107
Vinyl chloride exposure and cirrhosis: A systematic review and meta-analysis 106
Meta and pooled analyses of FGFR4 Gly388Arg polymorphism as a cancer prognostic factor 105
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 102
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
Riorganizzazione dell’attività di Genetica Medica relativa ai test genetici per malattie rare in ottica LEAN 88
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
null 75
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 75
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 73
An explainable model of host genetic interactions linked to COVID-19 severity 70
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 68
SELP Asp603Asn and severe thrombosis in COVID-19 males 67
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 65
null 62
The phenomenon of multidrug resistance in glioblastomas 60
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis 55
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 51
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
Different Liquid Biopsies for the Management of Non-Small Cell Lung Cancer in the Mutational Oncology Era 41
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
Diagnostic accuracy of circulating free DNA testing for the detection of KRAS mutations in non-small cell lung cancer: a systematic review and meta-analysis 35
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 31
Related expression of TRKA and P75 receptors and the changing copy number of MYC-oncogenes determine the sensitivity of brain tumor cells to the treatment of the nerve growth factor in combination with cisplatin and temozolomide 31
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells 28
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 28
Clinical and molecular characterization of COVID-19 hospitalized patients 27
null 24
Liquid Biopsies 21
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 19
Noninvasive Genetic Testing: Adhesive Patch-Based Skin Biopsy and Buccal Swab 19
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
Editorial: Lung adenocarcinoma: from genomics to immunotherapy 10
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 9
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 9
Editorial: Current trends and future perspectives about liquid biopsy 9
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 9
Editorial: Pharmacogenetic landscape in human solid cancers. 7
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation 6
Totale 8.843
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Categoria #
all - tutte 30.895
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 30.895
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.511 166 81 92 202 120 123 131 177 146 139 45 89
2020/20211.502 62 86 87 104 114 113 109 181 123 234 140 149
2021/20221.223 144 144 77 90 56 44 64 40 60 121 146 237
2022/20231.691 91 142 170 193 124 321 112 155 166 63 99 55
2023/20241.675 74 52 187 99 70 399 437 71 27 78 57 124
2024/202568 68 0 0 0 0 0 0 0 0 0 0 0
Totale 8.843