IRIS
SCALA, MARCELLO
 Distribuzione geografica
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Continente #
EU - Europa 6.589
NA - Nord America 2.532
AS - Asia 2.322
Continente sconosciuto - Info sul continente non disponibili 323
SA - Sud America 211
AF - Africa 35
OC - Oceania 3
Totale 12.015
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Nazione #
IT - Italia 6.303
US - Stati Uniti d'America 2.341
SG - Singapore 768
CN - Cina 493
BD - Bangladesh 478
VN - Vietnam 326
BR - Brasile 114
CA - Canada 84
HK - Hong Kong 78
FR - Francia 67
AR - Argentina 43
DE - Germania 43
GB - Regno Unito 38
JP - Giappone 36
IN - India 30
MX - Messico 28
FI - Finlandia 26
NL - Olanda 26
ID - Indonesia 17
JM - Giamaica 17
IQ - Iraq 16
EC - Ecuador 15
CR - Costa Rica 11
PH - Filippine 10
PK - Pakistan 10
ZA - Sudafrica 10
CO - Colombia 9
MY - Malesia 9
SV - El Salvador 9
ES - Italia 8
RO - Romania 8
RU - Federazione Russa 8
VE - Venezuela 8
CL - Cile 7
PR - Porto Rico 7
TT - Trinidad e Tobago 7
AT - Austria 6
CH - Svizzera 6
SA - Arabia Saudita 6
TN - Tunisia 6
TR - Turchia 6
AL - Albania 5
BS - Bahamas 5
IE - Irlanda 5
PL - Polonia 5
PY - Paraguay 5
BB - Barbados 4
GT - Guatemala 4
HN - Honduras 4
IL - Israele 4
JO - Giordania 4
MA - Marocco 4
NI - Nicaragua 4
NP - Nepal 4
PE - Perù 4
SE - Svezia 4
TH - Thailandia 4
UA - Ucraina 4
CZ - Repubblica Ceca 3
DK - Danimarca 3
DZ - Algeria 3
KR - Corea 3
PT - Portogallo 3
UY - Uruguay 3
UZ - Uzbekistan 3
AE - Emirati Arabi Uniti 2
AU - Australia 2
BA - Bosnia-Erzegovina 2
BG - Bulgaria 2
BO - Bolivia 2
BZ - Belize 2
EG - Egitto 2
GR - Grecia 2
IR - Iran 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
LT - Lituania 2
MD - Moldavia 2
OM - Oman 2
RS - Serbia 2
AZ - Azerbaigian 1
BE - Belgio 1
BH - Bahrain 1
CG - Congo 1
CI - Costa d'Avorio 1
CU - Cuba 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
GD - Grenada 1
GE - Georgia 1
GY - Guiana 1
HU - Ungheria 1
IS - Islanda 1
KH - Cambogia 1
LC - Santa Lucia 1
LI - Liechtenstein 1
LY - Libia 1
MM - Myanmar 1
NG - Nigeria 1
Totale 11.683
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Città #
Genoa 3.523
Genova 1.014
Vado Ligure 834
Rapallo 473
San Jose 425
Singapore 351
Ashburn 219
Beijing 105
New York 105
Ho Chi Minh City 104
Council Bluffs 85
Hong Kong 77
Hanoi 76
Los Angeles 66
Elk Grove Village 62
Lauterbourg 51
Milan 49
Santa Clara 49
Rome 45
Dallas 43
Chicago 41
St Louis 31
Frankfurt am Main 29
Naples 27
Tokyo 26
Buffalo 25
Boardman 24
Phoenix 24
Montreal 22
Haiphong 20
Atlanta 19
Bordighera 18
Helsinki 17
Bologna 16
Mexico City 16
Philadelphia 15
San Francisco 15
Houston 13
Newark 13
Orem 13
Brasília 12
Tianjin 12
Toronto 12
Da Nang 10
Denver 10
Kingston 10
Palermo 10
Bari 9
Brooklyn 9
City of London 9
Queens 9
Seattle 9
Boston 8
Florence 8
Hải Dương 8
Lappeenranta 8
San José 8
Cagliari 7
Charlotte 7
Guayaquil 7
Jacksonville 7
Jersey City 7
Louisville 7
São Paulo 7
The Bronx 7
Turin 7
Detroit 6
Las Vegas 6
London 6
Piscataway 6
Salt Lake City 6
San Salvador 6
Verona 6
Acalanes Ridge 5
Amsterdam 5
Arlington 5
Birmingham 5
Brescia 5
Calgary 5
Can Tho 5
Chennai 5
Chiavari 5
Manchester 5
Memphis 5
Miami 5
Oklahoma City 5
Padua 5
Tirana 5
Trento 5
Wilmington 5
Baton Rouge 4
Biên Hòa 4
Bridgetown 4
Cincinnati 4
Dublin 4
Edison 4
Erbil 4
Greenville 4
Guangzhou 4
Guatemala City 4
Totale 8.571
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 249
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 204
When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience 195
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 194
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 192
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 183
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature Review 155
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 154
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 148
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 147
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 146
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 144
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 143
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 141
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 141
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 133
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 132
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 125
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 125
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy 124
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 122
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 121
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 120
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 117
Diagnostic Approach to Macrocephaly in Children 116
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 114
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities 113
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 113
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 107
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity 107
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 107
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 107
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization 105
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome 105
Translational and clinical research applications of exome sequencing to neurodevelopmental disorders of childhood 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
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 100
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
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 94
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications 92
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 90
Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair Quality 90
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 89
Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome 89
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 88
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data 88
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 87
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia 84
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion 83
Expanding the phenotype associated with biallelic SLC20A2 variants 83
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 82
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 81
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review 81
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 81
Electroclinical Features of Epilepsy in Kleefstra Syndrome 80
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects 80
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 80
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 79
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 79
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 78
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants 76
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency 75
Genome-wide association meta-analyses of drug-resistant epilepsy 74
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder 74
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 74
Symptomatic eating epilepsy: two novel pediatric patients and review of literature 74
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases 72
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 72
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants 72
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy 71
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 71
A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome 70
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 69
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 69
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 68
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 68
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability 68
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22 67
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center 67
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 67
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 66
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations 66
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy 66
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 65
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 64
Spinal involvement in pediatric familial cavernous malformation syndrome 64
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 63
Letter to the Editor Regarding "Primary Aneurysmal Bone Cyst of the Thoracic Spine: A Pediatric Case Report" 62
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
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder 60
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course 60
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) 58
A Pleiotropic and Functionally Divergent RAC3 Variant Disrupts Neurodevelopment and Impacts Organogenesis 57
Precision medicine in early-onset epilepsy: The KCNQ2 paradigm 57
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 57
Totale 9.810
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Categoria #
all - tutte 45.503
article - articoli 44.983
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 192
Totale 90.678
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022323 0 0 9 19 25 23 14 67 32 60 14 60
2022/2023629 46 58 10 42 83 71 3 49 97 12 144 14
2023/2024696 46 81 31 102 59 90 40 44 32 35 52 84
2024/20252.405 130 149 42 152 245 248 207 416 143 140 272 261
2025/20265.829 546 104 315 405 730 357 637 313 515 527 615 765
2026/20271.378 567 372 439 0 0 0 0 0 0 0 0 0
Totale 12.015