IRIS
LIMONGELLI, IVAN
 Distribuzione geografica
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Continente #
NA - Nord America 529
EU - Europa 518
AS - Asia 249
OC - Oceania 3
AF - Africa 1
Totale 1.300
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Nazione #
US - Stati Uniti d'America 516
CN - Cina 220
IE - Irlanda 186
IT - Italia 177
FI - Finlandia 50
DE - Germania 35
SE - Svezia 25
BE - Belgio 17
CA - Canada 13
IN - India 13
ES - Italia 5
AT - Austria 4
PL - Polonia 4
AU - Australia 3
PS - Palestinian Territory 3
RU - Federazione Russa 3
SG - Singapore 3
UA - Ucraina 3
FR - Francia 2
GB - Regno Unito 2
IL - Israele 2
LV - Lettonia 2
MY - Malesia 2
RO - Romania 2
TR - Turchia 2
HK - Hong Kong 1
IR - Iran 1
JP - Giappone 1
LB - Libano 1
NL - Olanda 1
ZA - Sudafrica 1
Totale 1.300
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Città #
Dublin 185
Chandler 135
Pavia 66
Ashburn 52
Beijing 51
Nanjing 42
Jacksonville 36
Helsinki 33
Shanghai 24
Lawrence 23
Medford 23
Princeton 23
New York 20
Wilmington 19
Nanchang 18
Shenyang 17
Changsha 16
Brussels 15
Ann Arbor 14
Hebei 13
Jiaxing 12
Toronto 11
Tianjin 9
Genzano Di Roma 7
Turin 7
Dearborn 6
Munich 6
Naples 6
Falkenstein 5
Los Angeles 5
Norwalk 5
Seattle 5
Bengaluru 4
Berlin 4
Fairfield 4
Gandía 4
Hangzhou 4
Verolanuova 4
Chieti 3
Gurgaon 3
Milan 3
Moscow 3
Piscataway 3
Pistoia 3
Pune 3
Redwood City 3
Trontano 3
Washington 3
Bereguardo 2
Bologna 2
Corsico 2
Gaza 2
Gottignies 2
Istanbul 2
Jinan 2
Newcastle Upon Tyne 2
Pesaro 2
Rishon LeTsiyyon 2
Rome 2
Sacramento 2
Salerno 2
San Francisco 2
Vancouver 2
Woodbridge 2
Agra 1
Amsterdam 1
Anzano Del Parco 1
Bangalore 1
Boardman 1
Brivio 1
Canberra 1
Chicago 1
Desio 1
Ferrara 1
Florence 1
Gavardo 1
Genoa 1
Hong Kong 1
Johannesburg 1
Kunming 1
Lanzhou 1
Liepāja 1
Melbourne 1
Ningbo 1
Orange 1
San Mateo 1
Santa Clara 1
Serio 1
Siena 1
Taizhou 1
Tralee 1
Varese 1
Veruno 1
Vienna 1
Warsaw 1
Totale 1.026
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Nome #
An automatic implementation of ACMG/ClinGen guidelines for constitutional Copy Number Variants annotation and interpretation 138
A comparison of eVai, CADD and VVP variant prediction results on the ICR639 hereditary cancer dataset 101
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 80
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 58
Clinical effects of driver somatic mutations on the outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem-cell transplantation. 58
A semi-supervised learning approach for pan-cancer somatic genomic variant classification 58
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 57
A kinetic model-based algorithm to classify NGS short reads by their allele origin 52
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 52
BigQ: A NoSQL based framework to handle genomic variants in i2b2 51
A rule-based expert system for automatic implementation of somatic variant clinical interpretation guidelines 51
A Data Fusion Approach to Enhance Association Study in Epilepsy 50
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 50
A genomic data fusion framework to exploit rare and common variants for association discovery 49
Big Data as a Driver for Clinical Decision Support Systems: A Learning Health Systems Perspective 48
PaPI: Pseudo amino acid composition to score human protein-coding variants 46
Kimimila: A new model to classify ngs short reads by their allele origin 46
MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome 45
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 44
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases 44
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 42
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 38
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 34
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene 22
A machine learning approach for the detection of incidental findings in genetic testing 11
A machine learning approach for the detection of incidental findings in genetic testing 8
eVai's Suggested Diagnosis feature: a new AI-based method to increase diagnostic yield in Rare Disease Patients 6
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization 5
Totale 1.344
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Categoria #
all - tutte 5.212
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 5.212
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020214 62 79 0 0 0 3 7 10 3 31 19 0
2020/202185 6 0 0 8 1 4 3 23 18 15 2 5
2021/2022193 6 7 14 15 7 12 1 14 13 8 23 73
2022/2023484 51 45 10 24 30 40 11 28 213 9 12 11
2023/2024280 47 57 8 36 17 48 15 35 2 12 3 0
Totale 1.344