IRIS
IACOMINO, MICHELE
 Distribuzione geografica
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Continente #
EU - Europa 4.359
AS - Asia 945
NA - Nord America 839
Continente sconosciuto - Info sul continente non disponibili 123
SA - Sud America 94
AF - Africa 10
OC - Oceania 2
Totale 6.372
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Nazione #
IT - Italia 4.233
US - Stati Uniti d'America 780
SG - Singapore 320
CN - Cina 202
BD - Bangladesh 180
VN - Vietnam 152
BR - Brasile 50
HK - Hong Kong 33
FR - Francia 32
CA - Canada 28
DE - Germania 23
AR - Argentina 15
IN - India 11
FI - Finlandia 10
GB - Regno Unito 10
JP - Giappone 9
MX - Messico 9
NL - Olanda 9
IQ - Iraq 8
CH - Svizzera 7
CO - Colombia 6
EC - Ecuador 6
ID - Indonesia 6
JM - Giamaica 6
VE - Venezuela 6
IE - Irlanda 5
CR - Costa Rica 4
PL - Polonia 4
AE - Emirati Arabi Uniti 3
AT - Austria 3
CL - Cile 3
PE - Perù 3
PK - Pakistan 3
PY - Paraguay 3
RO - Romania 3
RU - Federazione Russa 3
TT - Trinidad e Tobago 3
AL - Albania 2
AU - Australia 2
BH - Bahrain 2
DZ - Algeria 2
ES - Italia 2
GE - Georgia 2
LC - Santa Lucia 2
LT - Lituania 2
SE - Svezia 2
SV - El Salvador 2
TH - Thailandia 2
TN - Tunisia 2
UA - Ucraina 2
BG - Bulgaria 1
BM - Bermuda 1
BO - Bolivia 1
BZ - Belize 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
GA - Gabon 1
GM - Gambi 1
GT - Guatemala 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
JO - Giordania 1
KE - Kenya 1
KG - Kirghizistan 1
KR - Corea 1
LI - Liechtenstein 1
MD - Moldavia 1
MY - Malesia 1
NG - Nigeria 1
NO - Norvegia 1
NP - Nepal 1
OM - Oman 1
PH - Filippine 1
PR - Porto Rico 1
PS - Palestinian Territory 1
SA - Arabia Saudita 1
SI - Slovenia 1
SY - Repubblica araba siriana 1
UY - Uruguay 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 6.249
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Città #
Genoa 1.998
Genova 1.142
Vado Ligure 508
Rapallo 430
San Jose 169
Singapore 155
Ashburn 133
Council Bluffs 50
Ho Chi Minh City 48
Beijing 46
Hong Kong 32
Hanoi 31
Lauterbourg 26
New York 25
Los Angeles 20
Frankfurt am Main 15
Chicago 14
Rome 14
Bordighera 12
Santa Clara 12
Haiphong 11
Milan 11
Helsinki 10
Montreal 10
Buffalo 9
Houston 8
Hải Dương 7
Dallas 6
Mexico City 6
Tokyo 6
Toronto 6
Boardman 5
Charlotte 5
Queens 5
Tianjin 5
Zurich 5
Atlanta 4
Bari 4
City of London 4
Da Nang 4
Dublin 4
London 4
Mumbai 4
Naples 4
Palermo 4
Phoenix 4
Piscataway 4
Quito 4
San José 4
Warsaw 4
Bologna 3
Boston 3
Florence 3
Jacksonville 3
Kansas City 3
Kingston 3
Louisville 3
Orem 3
Paris 3
Quảng Ngãi 3
San Francisco 3
Shanghai 3
Vienna 3
Acalanes Ridge 2
Amsterdam 2
Asunción 2
Belo Horizonte 2
Bogotá 2
Brooklyn 2
Bắc Ninh 2
Cabo Frio 2
Cagliari 2
Caracas 2
Cardiff 2
Casarsa della Delizia 2
Castries 2
Catania 2
Chavannes 2
Chennai 2
Cincinnati 2
Corona 2
Detroit 2
Dubai 2
Dundalk 2
Elk Grove Village 2
Erbil 2
Gazipur 2
Greeley 2
Hamburg 2
Islamabad 2
Janesville 2
Kingstree 2
Knoxville 2
Lake Forest 2
Lawton 2
Lima 2
Lấp Vò 2
Marseille 2
Memphis 2
Moore 2
Totale 5.164
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 243
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features 239
Clinical and molecular consequences of exon 78 deletion in DMD gene 218
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 183
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 176
Chiari malformation type I: what information from the genetics? 169
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 164
IDENTIFICAZIONE DI NUOVI GENI RESPONSABILI DI MALATTIE RARE DEL NEUROSVILUPPO TRAMITE HOMOZYGOSITY MAPPING E/O SEQUENZIAMENTO DI NUOVA GENERAZIONE 164
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 163
White matter involvement in a family with a novel PDGFB mutation 159
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 151
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs 150
Exome sequencing fails to identify the genetic cause of Aicardi syndrome 147
Alterations in the alfa(2) gamma ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies 144
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 141
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 140
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 140
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 140
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 128
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 128
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 123
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 119
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 118
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 112
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 110
Distal motor neuropathy associated with novel EMILIN1 mutation 108
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 107
Novel TRIM32 mutation in sarcotubular myopathy 105
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 104
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 103
Novel GABRG2 mutations cause familial febrile seizures 102
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 100
De novo variants in DENND5B cause a neurodevelopmental disorder 99
Vesicular glutamate release from feeder-free hiPSC-derived neurons 97
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 94
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 92
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 91
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 91
De novo GRIN2A variants associated with epilepsy and autism and literature review 88
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 85
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 85
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 84
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 80
Expanding the phenotype associated with biallelic SLC20A2 variants 79
Novel biallelic variants expand the phenotype of NAA20-related syndrome 79
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 70
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 66
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 64
Hydranencephaly in CENPJ-related Seckel syndrome 64
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 58
An interconnected data infrastructure to support large-scale rare disease research 58
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data 45
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review 44
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 40
Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy 34
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 32
Exome sequencing data screening to identify undiagnosed Aromatic L-amino acid decarboxylase deficiency in neurodevelopmental disorders 30
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 25
Totale 6.372
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Categoria #
all - tutte 23.100
article - articoli 22.669
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 45.769
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022382 23 12 16 25 26 20 29 69 35 52 30 45
2022/2023518 40 54 14 54 85 61 6 43 72 2 76 11
2023/2024388 25 28 10 49 39 76 23 24 16 14 33 51
2024/20251.424 52 74 36 103 155 144 155 249 100 76 153 127
2025/20262.624 281 46 204 208 328 184 311 127 222 221 227 265
2026/2027201 201 0 0 0 0 0 0 0 0 0 0 0
Totale 6.372