IRIS
CAPPUCCIO, GERARDA
 Distribuzione geografica
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Continente #
AS - Asia 3.606
NA - Nord America 3.147
EU - Europa 2.186
SA - Sud America 439
Continente sconosciuto - Info sul continente non disponibili 133
AF - Africa 94
OC - Oceania 9
Totale 9.614
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Nazione #
US - Stati Uniti d'America 3.000
SG - Singapore 1.582
RU - Federazione Russa 972
CN - Cina 613
VN - Vietnam 598
IT - Italia 520
BR - Brasile 350
HK - Hong Kong 327
DE - Germania 131
FR - Francia 127
BD - Bangladesh 108
NL - Olanda 108
IN - India 91
GB - Regno Unito 80
CA - Canada 79
JP - Giappone 68
FI - Finlandia 61
KR - Corea 47
AR - Argentina 38
IE - Irlanda 36
MX - Messico 31
CI - Costa d'Avorio 25
AT - Austria 24
ZA - Sudafrica 24
ES - Italia 23
TH - Thailandia 21
UA - Ucraina 20
TR - Turchia 19
SE - Svezia 18
PH - Filippine 17
PL - Polonia 17
IQ - Iraq 16
PK - Pakistan 15
CO - Colombia 14
ID - Indonesia 13
EC - Ecuador 10
IL - Israele 10
MA - Marocco 10
VE - Venezuela 9
BG - Bulgaria 8
CH - Svizzera 8
CR - Costa Rica 8
JM - Giamaica 8
BE - Belgio 7
SA - Arabia Saudita 7
TN - Tunisia 6
TW - Taiwan 6
UZ - Uzbekistan 6
AZ - Azerbaigian 5
DZ - Algeria 5
JO - Giordania 5
KZ - Kazakistan 5
LT - Lituania 5
SV - El Salvador 5
AU - Australia 4
CL - Cile 4
EG - Egitto 4
ET - Etiopia 4
NP - Nepal 4
NZ - Nuova Zelanda 4
PE - Perù 4
RO - Romania 4
AM - Armenia 3
BO - Bolivia 3
CZ - Repubblica Ceca 3
DO - Repubblica Dominicana 3
PS - Palestinian Territory 3
PT - Portogallo 3
PY - Paraguay 3
SY - Repubblica araba siriana 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
AO - Angola 2
BY - Bielorussia 2
EU - Europa 2
GT - Guatemala 2
HN - Honduras 2
IR - Iran 2
KE - Kenya 2
KG - Kirghizistan 2
MN - Mongolia 2
MY - Malesia 2
NG - Nigeria 2
NI - Nicaragua 2
NO - Norvegia 2
RE - Reunion 2
RS - Serbia 2
TT - Trinidad e Tobago 2
XK - ???statistics.table.value.countryCode.XK??? 2
BH - Bahrain 1
BW - Botswana 1
BZ - Belize 1
DK - Danimarca 1
GE - Georgia 1
GN - Guinea 1
GP - Guadalupe 1
GR - Grecia 1
HR - Croazia 1
LB - Libano 1
LC - Santa Lucia 1
Totale 9.472
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Città #
Singapore 711
San Jose 528
Ashburn 319
Hong Kong 307
Moscow 255
Chandler 213
Ho Chi Minh City 200
Hefei 172
Beijing 149
Santa Clara 139
Hanoi 131
The Dalles 93
Lauterbourg 86
Amsterdam 72
Naples 67
Los Angeles 66
Millbury 65
Council Bluffs 60
Tokyo 58
Dallas 49
Des Moines 49
New York 48
Boston 47
Lawrence 46
Buffalo 41
Redondo Beach 41
São Paulo 35
Nanjing 33
Houston 31
Napoli 31
Seoul 31
Da Nang 29
Munich 29
Rome 28
Phoenix 24
Princeton 24
Haiphong 23
Seattle 23
Turku 23
Wilmington 23
Milan 22
Nuremberg 21
Orem 21
Ottawa 21
London 20
Chicago 19
Brooklyn 16
Mexico City 16
Chennai 15
Helsinki 15
Rio de Janeiro 15
Biên Hòa 14
Frankfurt am Main 14
Stockholm 14
Guangzhou 13
Montreal 13
Pune 12
Warsaw 12
Baghdad 11
Catania 11
Toronto 11
Turin 11
Bari 10
Boardman 10
Bologna 10
Falkenstein 10
Florence 10
Hải Dương 10
Johannesburg 10
New Delhi 10
Vienna 10
Washington 10
Atlanta 9
Manchester 9
Denver 8
Dublin 8
Kochi 8
Nanchang 8
Woodbridge 8
Bangkok 7
Lecce 7
Mumbai 7
Poplar 7
San José 7
Ankara 6
Belo Horizonte 6
Can Tho 6
Paris 6
San Francisco 6
Sofia 6
Amman 5
Baku 5
Bến Tre 5
Dhaka 5
Falls Church 5
Guarulhos 5
Hebei 5
Lahore 5
Newark 5
Ninh Bình 5
Totale 5.015
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Nome #
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 242
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 166
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 164
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 159
The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications 148
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 147
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 144
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 141
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy 141
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 140
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 139
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 136
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 135
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 135
Otorhinolaryngological management in the Mucopolysaccharidoses 134
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 128
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 126
Variability in autism spectrum phenotypes linked to heterozygous missense familial ANK2 mutation 124
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 124
Approcci diagnostico-terapeutici al dolore cronico delle patologie neurodegenerative: l'esempio delle leucodistrofie. 123
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 123
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 122
Corrigendum to: Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation (American Journal of Medical Genetics Part A, (2017), 173, 10, (2743-2746), 10.1002/ajmg.a.38367) 122
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study 121
Two cases of 16q12.1q21 deletions and refinement of the critical region 119
TREATMENT OF HYPERSALIVATION IN RETT SYNDROME WITH BOTULINUM TOXIN: EFFICACY AND CLINICAL IMPLICATIONS 119
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 118
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 115
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 115
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 114
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants 112
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 112
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 111
Expansion of the phenotype of lateral meningocele syndrome 109
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 108
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability 108
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 105
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 105
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 105
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 104
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 103
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 99
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 98
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study 97
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 96
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. 95
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. 90
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum 89
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 89
Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel-Trenaunay syndrome? 89
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function 88
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 88
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia 87
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 87
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 86
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 84
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders 81
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 80
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 78
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 75
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) 75
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 74
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 74
The use of iPSC-derived neurons to study neurological disorders. Human models as new tools for drug development and precision medicine 73
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 73
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum 72
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease 71
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 71
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 71
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 71
Clinical and functional consequences of C-terminal variants in MCT8: a case series 71
Sphingolipid metabolism perturbations in rett syndrome 69
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 68
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 67
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism 67
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 67
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum 66
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) 66
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects 66
Antibody Deficiency in Patients with Biallelic KARS1 Mutations 65
Rubinstein-Taybi syndrome in diverse populations 65
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 64
A pilot clinical trial with losartan in Myhre syndrome 64
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 64
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome 63
An extremely severe phenotype attributed to WDR81 nonsense mutations 63
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability 63
A clinical and genotype-phenotype analysis of MACF1 variants 62
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant 62
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine 60
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 58
Long-term follow-up of an individual with ITPR1-related disorder 57
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 57
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration 56
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 56
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 55
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 55
Peculiar footprints in a child with agenesis of corpus callosum 55
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome 49
A systematic cross-sectional survey of multiple sulfatase deficiency 47
Totale 9.514
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Categoria #
all - tutte 33.373
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 33.373
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022354 0 0 6 5 17 10 6 14 28 28 76 164
2022/2023610 79 30 19 49 76 69 25 52 87 69 41 14
2023/2024548 41 86 48 45 22 64 23 53 11 22 77 56
2024/20252.370 137 145 13 26 79 109 284 133 186 307 754 197
2025/20264.900 562 406 496 476 736 173 499 293 645 261 123 230
2026/2027420 196 224 0 0 0 0 0 0 0 0 0 0
Totale 9.614