IRIS
CAPPUCCIO, GERARDA
 Distribuzione geografica
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Continente #
AS - Asia 3.600
NA - Nord America 3.009
EU - Europa 2.177
SA - Sud America 439
Continente sconosciuto - Info sul continente non disponibili 133
AF - Africa 94
OC - Oceania 9
Totale 9.461
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Nazione #
US - Stati Uniti d'America 2.874
SG - Singapore 1.581
RU - Federazione Russa 972
CN - Cina 612
VN - Vietnam 597
IT - Italia 514
BR - Brasile 350
HK - Hong Kong 327
DE - Germania 130
FR - Francia 127
BD - Bangladesh 108
NL - Olanda 108
IN - India 91
GB - Regno Unito 78
CA - Canada 72
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
CO - Colombia 14
PK - Pakistan 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
BE - Belgio 7
JM - Giamaica 7
SA - Arabia Saudita 6
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
NZ - Nuova Zelanda 4
PE - Perù 4
RO - Romania 4
AM - Armenia 3
BO - Bolivia 3
CZ - Repubblica Ceca 3
NP - Nepal 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
DO - Repubblica Dominicana 2
EU - Europa 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
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
LB - Libano 1
LC - Santa Lucia 1
Totale 9.320
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Città #
Singapore 711
San Jose 484
Ashburn 318
Hong Kong 307
Moscow 255
Chandler 213
Ho Chi Minh City 200
Hefei 172
Beijing 149
Santa Clara 136
Hanoi 130
The Dalles 93
Lauterbourg 86
Amsterdam 72
Naples 67
Los Angeles 66
Millbury 65
Tokyo 58
Dallas 49
Des Moines 49
Boston 46
Lawrence 46
New York 46
Buffalo 41
Redondo Beach 41
São Paulo 35
Nanjing 33
Houston 31
Napoli 31
Seoul 31
Da Nang 29
Munich 29
Rome 27
Princeton 24
Haiphong 23
Seattle 23
Turku 23
Wilmington 23
Milan 21
Nuremberg 21
Orem 21
Ottawa 21
London 20
Chicago 19
Phoenix 18
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
Council Bluffs 10
Falkenstein 10
Florence 10
Hải Dương 10
Johannesburg 10
New Delhi 10
Vienna 10
Washington 10
Manchester 9
Atlanta 8
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 4.904
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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 ? 164
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 163
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 158
The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications 146
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 143
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 141
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 140
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 139
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 136
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 134
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 134
Otorhinolaryngological management in the Mucopolysaccharidoses 132
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 132
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy 131
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 127
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 124
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 122
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 122
Variability in autism spectrum phenotypes linked to heterozygous missense familial ANK2 mutation 120
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study 120
Approcci diagnostico-terapeutici al dolore cronico delle patologie neurodegenerative: l'esempio delle leucodistrofie. 120
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 120
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) 120
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 117
Two cases of 16q12.1q21 deletions and refinement of the critical region 117
TREATMENT OF HYPERSALIVATION IN RETT SYNDROME WITH BOTULINUM TOXIN: EFFICACY AND CLINICAL IMPLICATIONS 117
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 113
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 113
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 112
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 110
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 110
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 108
Expansion of the phenotype of lateral meningocele syndrome 108
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 105
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability 105
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 104
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 104
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 103
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 102
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 101
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 97
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 97
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. 94
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study 94
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum 88
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. 88
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 87
Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel-Trenaunay syndrome? 87
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 86
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function 86
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 86
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 86
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia 85
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 85
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 83
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 76
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 76
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 75
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 74
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) 74
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 73
The use of iPSC-derived neurons to study neurological disorders. Human models as new tools for drug development and precision medicine 72
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum 72
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 72
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 71
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease 70
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 70
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 70
Clinical and functional consequences of C-terminal variants in MCT8: a case series 70
Sphingolipid metabolism perturbations in rett syndrome 68
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 68
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
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) 66
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 66
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects 66
Rubinstein-Taybi syndrome in diverse populations 65
Antibody Deficiency in Patients with Biallelic KARS1 Mutations 64
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
An extremely severe phenotype attributed to WDR81 nonsense mutations 63
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum 63
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 63
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability 62
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome 61
A clinical and genotype-phenotype analysis of MACF1 variants 61
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant 61
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine 59
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 57
Long-term follow-up of an individual with ITPR1-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
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 56
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 55
Peculiar footprints in a child with agenesis of corpus callosum 55
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 54
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 9.364
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Categoria #
all - tutte 32.726
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 32.726
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022356 0 2 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
2026/2027267 196 71 0 0 0 0 0 0 0 0 0 0
Totale 9.461