IRIS
LIMONGELLI, IVAN
 Distribuzione geografica
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Continente #
NA - Nord America 1.385
AS - Asia 1.064
EU - Europa 1.010
SA - Sud America 213
AF - Africa 60
OC - Oceania 5
Totale 3.737
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Nazione #
US - Stati Uniti d'America 1.328
CN - Cina 425
IT - Italia 261
SG - Singapore 241
IE - Irlanda 190
BR - Brasile 159
RU - Federazione Russa 142
HK - Hong Kong 126
VN - Vietnam 114
DE - Germania 89
FI - Finlandia 70
FR - Francia 62
ZA - Sudafrica 45
GB - Regno Unito 43
IN - India 37
SE - Svezia 34
CA - Canada 32
AR - Argentina 22
BE - Belgio 20
MX - Messico 17
NL - Olanda 16
ES - Italia 15
JP - Giappone 14
PL - Polonia 14
IQ - Iraq 13
BD - Bangladesh 12
CZ - Repubblica Ceca 12
ID - Indonesia 12
EC - Ecuador 11
TR - Turchia 9
UA - Ucraina 9
AT - Austria 8
UZ - Uzbekistan 7
VE - Venezuela 7
PS - Palestinian Territory 6
AU - Australia 5
IR - Iran 5
LT - Lituania 5
PK - Pakistan 5
SA - Arabia Saudita 5
CL - Cile 4
IL - Israele 4
AE - Emirati Arabi Uniti 3
AZ - Azerbaigian 3
CO - Colombia 3
JO - Giordania 3
KG - Kirghizistan 3
MY - Malesia 3
PE - Perù 3
AL - Albania 2
CG - Congo 2
CH - Svizzera 2
CR - Costa Rica 2
GR - Grecia 2
HU - Ungheria 2
KE - Kenya 2
KR - Corea 2
LB - Libano 2
LV - Lettonia 2
MA - Marocco 2
NI - Nicaragua 2
OM - Oman 2
PH - Filippine 2
PT - Portogallo 2
PY - Paraguay 2
RO - Romania 2
RS - Serbia 2
SN - Senegal 2
TN - Tunisia 2
UY - Uruguay 2
AM - Armenia 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BY - Bielorussia 1
EG - Egitto 1
ET - Etiopia 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
KW - Kuwait 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
MU - Mauritius 1
NP - Nepal 1
RE - Reunion 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
Totale 3.737
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Città #
Dallas 229
Dublin 189
Ashburn 145
Singapore 145
Chandler 135
Hong Kong 125
Beijing 118
San Jose 113
Pavia 84
Nanjing 55
Boardman 51
Johannesburg 42
Los Angeles 41
New York 41
Helsinki 39
Ho Chi Minh City 39
Jacksonville 37
Shanghai 36
Moscow 35
Munich 33
Lauterbourg 31
Hanoi 30
Lawrence 23
Medford 23
Princeton 23
Milan 19
Wilmington 19
Brussels 18
Nanchang 18
Changsha 17
Shenyang 17
Buffalo 16
Toronto 16
São Paulo 15
Ann Arbor 14
London 14
Turku 14
Hebei 13
Redondo Beach 13
Jiaxing 12
Tokyo 12
Mexico City 11
Turin 11
Brno 10
Orem 10
Rome 10
Denver 9
Montreal 9
Nuremberg 9
Seattle 9
Stockholm 9
The Dalles 9
Tianjin 9
Warsaw 8
Amsterdam 7
Atlanta 7
Falkenstein 7
Florence 7
Frankfurt am Main 7
Genzano Di Roma 7
Naples 7
Santa Clara 7
Baghdad 6
Brasília 6
Chennai 6
Chicago 6
Dearborn 6
Goiânia 6
Mumbai 6
Novara 6
Poplar 6
Tashkent 6
Berlin 5
Boston 5
Campinas 5
Council Bluffs 5
Da Nang 5
Haiphong 5
Hangzhou 5
Manchester 5
Norwalk 5
San Francisco 5
Bengaluru 4
Biên Hòa 4
Cesena 4
Dhaka 4
Fairfield 4
Gandía 4
Guayaquil 4
Hyderabad 4
Jinan 4
Marseille 4
Riyadh 4
Vancouver 4
Verolanuova 4
Vienna 4
Aix-en-Provence 3
Amman 3
Baku 3
Belo Horizonte 3
Totale 2.466
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Nome #
An automatic implementation of ACMG/ClinGen guidelines for constitutional Copy Number Variants annotation and interpretation 201
A comparison of eVai, CADD and VVP variant prediction results on the ICR639 hereditary cancer dataset 200
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 157
Phenotypes extraction from clinical descriptions using Large Language Models 155
Clinical effects of driver somatic mutations on the outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem-cell transplantation. 152
A Data Fusion Approach to Enhance Association Study in Epilepsy 150
A rule-based expert system for automatic implementation of somatic variant clinical interpretation guidelines 148
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 144
A semi-supervised learning approach for pan-cancer somatic genomic variant classification 139
A kinetic model-based algorithm to classify NGS short reads by their allele origin 127
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 119
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 114
Kimimila: A new model to classify ngs short reads by their allele origin 109
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases 107
Big Data as a Driver for Clinical Decision Support Systems: A Learning Health Systems Perspective 107
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 107
PREDICTIVE METHOD FOR DETERMINING THE PATHOGENICITY OF COMBINATIONS OF DIGENIC OR OLIGOGENIC VARIANTS 105
PaPI: Pseudo amino acid composition to score human protein-coding variants 104
BigQ: A NoSQL based framework to handle genomic variants in i2b2 101
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 101
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 100
MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome 96
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 93
A genomic data fusion framework to exploit rare and common variants for association discovery 92
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases 90
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 88
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 85
A machine learning approach for the detection of incidental findings in genetic testing 79
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization 78
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 77
Digenic variant interpretation with hypothesis-driven explainable AI 75
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project 70
A machine learning approach for the detection of incidental findings in genetic testing 67
eVai's Suggested Diagnosis feature: a new AI-based method to increase diagnostic yield in Rare Disease Patients 62
Totale 3.799
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Categoria #
all - tutte 14.253
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 14.253
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202122 0 0 0 0 0 0 0 0 0 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
2023/2024342 47 57 8 36 17 48 15 35 2 12 9 56
2024/2025738 15 48 27 9 36 43 38 55 180 36 86 165
2025/20261.655 139 148 292 245 191 69 231 87 159 94 0 0
Totale 3.799