IRIS
SCALA, MARCELLO
 Distribuzione geografica
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Continente #
EU - Europa 6.511
AS - Asia 2.277
NA - Nord America 1.914
Continente sconosciuto - Info sul continente non disponibili 305
SA - Sud America 187
AF - Africa 34
OC - Oceania 3
Totale 11.231
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Nazione #
IT - Italia 6.241
US - Stati Uniti d'America 1.758
SG - Singapore 765
CN - Cina 480
BD - Bangladesh 473
VN - Vietnam 324
BR - Brasile 101
HK - Hong Kong 76
CA - Canada 70
FR - Francia 67
AR - Argentina 41
DE - Germania 41
JP - Giappone 34
GB - Regno Unito 31
IN - India 26
MX - Messico 26
FI - Finlandia 25
NL - Olanda 25
IQ - Iraq 16
ID - Indonesia 14
JM - Giamaica 14
EC - Ecuador 12
PK - Pakistan 10
ZA - Sudafrica 10
CR - Costa Rica 8
RO - Romania 8
RU - Federazione Russa 8
CL - Cile 7
ES - Italia 7
PH - Filippine 7
SV - El Salvador 7
VE - Venezuela 7
AT - Austria 6
CH - Svizzera 6
MY - Malesia 6
PR - Porto Rico 6
TN - Tunisia 6
TT - Trinidad e Tobago 6
AL - Albania 5
CO - Colombia 5
IE - Irlanda 5
PL - Polonia 5
PY - Paraguay 5
SA - Arabia Saudita 5
BS - Bahamas 4
IL - Israele 4
JO - Giordania 4
MA - Marocco 4
PE - Perù 4
SE - Svezia 4
TH - Thailandia 4
TR - Turchia 4
DK - Danimarca 3
DZ - Algeria 3
HN - Honduras 3
KR - Corea 3
NI - Nicaragua 3
PT - Portogallo 3
UA - Ucraina 3
UY - Uruguay 3
UZ - Uzbekistan 3
AE - Emirati Arabi Uniti 2
AU - Australia 2
BA - Bosnia-Erzegovina 2
BB - Barbados 2
BG - Bulgaria 2
BO - Bolivia 2
BZ - Belize 2
EG - Egitto 2
GR - Grecia 2
GT - Guatemala 2
IR - Iran 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
MD - Moldavia 2
NP - Nepal 2
OM - Oman 2
RS - Serbia 2
AZ - Azerbaigian 1
BE - Belgio 1
BH - Bahrain 1
CG - Congo 1
CI - Costa d'Avorio 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
GD - Grenada 1
GE - Georgia 1
HU - Ungheria 1
IS - Islanda 1
KH - Cambogia 1
LI - Liechtenstein 1
LT - Lituania 1
LY - Libia 1
MM - Myanmar 1
NG - Nigeria 1
NO - Norvegia 1
PG - Papua Nuova Guinea 1
PS - Palestinian Territory 1
Totale 10.921
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Città #
Genoa 3.522
Genova 1.014
Vado Ligure 834
Rapallo 473
Singapore 350
San Jose 348
Ashburn 177
Ho Chi Minh City 104
New York 99
Beijing 97
Council Bluffs 83
Hanoi 75
Hong Kong 75
Los Angeles 61
Lauterbourg 51
Milan 39
Santa Clara 39
Rome 38
Chicago 36
Dallas 31
St Louis 30
Frankfurt am Main 29
Boardman 24
Buffalo 24
Naples 24
Tokyo 24
Haiphong 20
Montreal 20
Bordighera 18
Helsinki 16
Mexico City 15
Atlanta 13
Bologna 13
San Francisco 13
Tianjin 12
Orem 11
Toronto 11
Da Nang 10
Houston 10
Newark 10
Philadelphia 10
Bari 9
City of London 9
Palermo 9
Florence 8
Hải Dương 8
Lappeenranta 8
Phoenix 8
Boston 7
Cagliari 7
Kingston 7
Queens 7
Charlotte 6
Denver 6
Guayaquil 6
Jacksonville 6
Piscataway 6
Salt Lake City 6
San José 6
Seattle 6
The Bronx 6
Verona 6
Acalanes Ridge 5
Amsterdam 5
Brasília 5
Brescia 5
Can Tho 5
Chennai 5
Jersey City 5
London 5
Padua 5
San Salvador 5
São Paulo 5
Tirana 5
Turin 5
Biên Hòa 4
Brooklyn 4
Detroit 4
Dublin 4
Edison 4
Elk Grove Village 4
Erbil 4
Fort Worth 4
Guangzhou 4
Lahore 4
Louisville 4
Manchester 4
Miano 4
Mumbai 4
Perugia 4
Phủ Lý 4
Quito 4
Quảng Ngãi 4
Shanghai 4
Stockholm 4
Thái Bình 4
Trento 4
Warsaw 4
Washington Court House 4
Amman 3
Totale 8.214
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 243
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 202
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 191
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 189
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 181
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 179
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 148
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 145
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature Review 145
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 144
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 141
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 140
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 140
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 139
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 137
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 128
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 124
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 123
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy 121
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 118
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 117
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 117
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 115
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 112
Diagnostic Approach to Macrocephaly in Children 112
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 105
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome 104
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 102
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 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
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities 97
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 96
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 94
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 93
Translational and clinical research applications of exome sequencing to neurodevelopmental disorders of childhood 93
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
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity 91
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 91
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 89
Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome 87
Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair Quality 86
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 85
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 85
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 83
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia 83
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 80
Electroclinical Features of Epilepsy in Kleefstra Syndrome 79
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 79
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects 79
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 79
Expanding the phenotype associated with biallelic SLC20A2 variants 79
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion 78
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 78
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 77
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 76
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 76
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 75
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency 74
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 73
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants 73
Symptomatic eating epilepsy: two novel pediatric patients and review of literature 72
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 71
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases 70
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 70
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 70
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy 69
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder 69
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants 69
A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome 68
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications 68
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability 68
Genome-wide association meta-analyses of drug-resistant epilepsy 66
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review 66
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22 66
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 66
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 66
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 65
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy 65
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 64
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 64
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 63
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 63
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations 63
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 61
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center 61
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 60
Letter to the Editor Regarding "Primary Aneurysmal Bone Cyst of the Thoracic Spine: A Pediatric Case Report" 59
Spinal involvement in pediatric familial cavernous malformation syndrome 59
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
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course 57
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)) 57
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 54
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 53
Precision medicine in early-onset epilepsy: The KCNQ2 paradigm 53
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization 52
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation 52
Pathophysiological mechanisms in neurodevelopmental disorders caused by rac GTPases dysregulation: What’s behind neuro-RACopathies 52
Totale 9.241
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Categoria #
all - tutte 42.347
article - articoli 41.878
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 162
Totale 84.387
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022370 0 47 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
2025/20265.840 546 104 315 405 730 357 637 313 515 527 617 774
2026/2027583 572 11 0 0 0 0 0 0 0 0 0 0
Totale 11.231