IRIS
IACOMINO, MICHELE
 Distribuzione geografica
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Continente #
EU - Europa 4.374
NA - Nord America 1.040
AS - Asia 960
Continente sconosciuto - Info sul continente non disponibili 123
SA - Sud America 111
AF - Africa 10
OC - Oceania 2
Totale 6.620
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Nazione #
IT - Italia 4.248
US - Stati Uniti d'America 963
SG - Singapore 321
CN - Cina 208
BD - Bangladesh 183
VN - Vietnam 152
BR - Brasile 61
HK - Hong Kong 34
CA - Canada 32
FR - Francia 32
DE - Germania 23
AR - Argentina 16
MX - Messico 13
IN - India 11
FI - Finlandia 10
GB - Regno Unito 10
JM - Giamaica 10
EC - Ecuador 9
JP - Giappone 9
NL - Olanda 9
IQ - Iraq 8
CH - Svizzera 7
CO - Colombia 7
VE - Venezuela 7
CR - Costa Rica 6
ID - Indonesia 6
IE - Irlanda 5
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
SV - El Salvador 3
TH - Thailandia 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
NI - Nicaragua 2
NP - Nepal 2
PH - Filippine 2
SE - Svezia 2
TN - Tunisia 2
UA - Ucraina 2
BG - Bulgaria 1
BM - Bermuda 1
BO - Bolivia 1
BZ - Belize 1
CU - Cuba 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
OM - Oman 1
PR - Porto Rico 1
PS - Palestinian Territory 1
SA - Arabia Saudita 1
SI - Slovenia 1
SY - Repubblica araba siriana 1
TR - Turchia 1
UY - Uruguay 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 6.497
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Città #
Genoa 1.998
Genova 1.142
Vado Ligure 508
Rapallo 430
San Jose 198
Singapore 155
Ashburn 146
Council Bluffs 54
Beijing 49
Ho Chi Minh City 48
Hong Kong 33
Hanoi 31
New York 27
Lauterbourg 26
Los Angeles 21
Rome 18
Chicago 16
Frankfurt am Main 15
Milan 15
Santa Clara 14
Bordighera 12
Buffalo 11
Haiphong 11
Montreal 11
Helsinki 10
Houston 10
Brasília 9
Phoenix 9
Dallas 8
Hải Dương 7
Toronto 7
Brooklyn 6
Charlotte 6
Kingston 6
Mexico City 6
San José 6
Tokyo 6
Boardman 5
Florence 5
Louisville 5
Queens 5
Quito 5
Tianjin 5
Zurich 5
Atlanta 4
Bari 4
Boston 4
City of London 4
Da Nang 4
Dublin 4
Jacksonville 4
Kansas City 4
London 4
Mumbai 4
Naples 4
Palermo 4
Piscataway 4
Warsaw 4
Bogotá 3
Bologna 3
Cincinnati 3
Miami 3
Orem 3
Paris 3
Quảng Ngãi 3
San Diego 3
San Francisco 3
San Salvador 3
Shanghai 3
Turin 3
Vienna 3
Acalanes Ridge 2
Amsterdam 2
Asunción 2
Bangkok 2
Belo Horizonte 2
Beltsville 2
Bloomington 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
Columbus 2
Corona 2
Decatur 2
Detroit 2
Dubai 2
Dundalk 2
Elk Grove Village 2
Erbil 2
Gazipur 2
Greeley 2
Hamburg 2
Indianapolis 2
Totale 5.273
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 249
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features 241
Clinical and molecular consequences of exon 78 deletion in DMD gene 222
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 187
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 182
IDENTIFICAZIONE DI NUOVI GENI RESPONSABILI DI MALATTIE RARE DEL NEUROSVILUPPO TRAMITE HOMOZYGOSITY MAPPING E/O SEQUENZIAMENTO DI NUOVA GENERAZIONE 173
Chiari malformation type I: what information from the genetics? 172
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 169
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 167
White matter involvement in a family with a novel PDGFB mutation 161
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 158
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 155
Exome sequencing fails to identify the genetic cause of Aicardi syndrome 147
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 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 145
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 143
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 142
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 141
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 134
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 133
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 132
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 123
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 121
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 114
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 113
Distal motor neuropathy associated with novel EMILIN1 mutation 111
Novel TRIM32 mutation in sarcotubular myopathy 110
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 110
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 108
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 107
Novel GABRG2 mutations cause familial febrile seizures 105
De novo variants in DENND5B cause a neurodevelopmental disorder 104
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 103
Vesicular glutamate release from feeder-free hiPSC-derived neurons 98
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 98
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 97
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 96
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 95
De novo GRIN2A variants associated with epilepsy and autism and literature review 92
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 90
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 90
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data 86
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 85
Expanding the phenotype associated with biallelic SLC20A2 variants 83
Novel biallelic variants expand the phenotype of NAA20-related syndrome 83
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 82
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 72
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 70
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 66
Hydranencephaly in CENPJ-related Seckel syndrome 66
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 61
An interconnected data infrastructure to support large-scale rare disease research 61
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review 48
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 43
Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy 39
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 28
Totale 6.620
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Categoria #
all - tutte 24.457
article - articoli 23.999
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 48.456
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022347 0 0 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
2026/2027449 208 105 136 0 0 0 0 0 0 0 0 0
Totale 6.620