IRIS
CAPPUCCIO, GERARDA
 Distribuzione geografica
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Continente #
NA - Nord America 1.235
EU - Europa 628
AS - Asia 627
AF - Africa 26
SA - Sud America 7
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 1
Totale 2.526
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Nazione #
US - Stati Uniti d'America 1.209
IT - Italia 361
SG - Singapore 268
HK - Hong Kong 211
CN - Cina 114
NL - Olanda 80
DE - Germania 33
IE - Irlanda 30
FI - Finlandia 27
CI - Costa d'Avorio 24
CA - Canada 23
RU - Federazione Russa 19
IN - India 18
GB - Regno Unito 17
FR - Francia 14
ES - Italia 8
CH - Svizzera 7
IL - Israele 7
BE - Belgio 6
BG - Bulgaria 6
JP - Giappone 6
AT - Austria 3
BR - Brasile 3
CO - Colombia 3
MX - Messico 3
PL - Polonia 3
RO - Romania 3
SE - Svezia 3
UA - Ucraina 3
EU - Europa 2
MA - Marocco 2
NO - Norvegia 2
GR - Grecia 1
IR - Iran 1
LT - Lituania 1
NZ - Nuova Zelanda 1
PE - Perù 1
RS - Serbia 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 2.526
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Città #
Chandler 213
Singapore 213
Hong Kong 204
Santa Clara 104
Ashburn 88
Millbury 65
Amsterdam 64
Naples 53
Des Moines 47
Lawrence 46
Boston 40
Nanjing 33
Napoli 31
Beijing 28
Princeton 24
Wilmington 21
Ottawa 19
Rome 19
Houston 17
Seattle 14
Milan 9
Moscow 8
Nanchang 8
Pune 8
Catania 7
Guangzhou 7
Lecce 7
Turin 7
Washington 7
Woodbridge 7
Boardman 5
Dublin 5
Falls Church 5
Hebei 5
Helsinki 5
Los Angeles 5
Alcalá De Henares 4
Bari 4
Budrio 4
Central 4
Fairfield 4
Lappeenranta 4
London 4
Redwood City 4
Sofia 4
Waanrode 4
Zurich 4
Bnei Brak 3
Canary Wharf 3
Capoliveri 3
Caserta 3
Dallas 3
Jiaxing 3
Medellín 3
New Delhi 3
Rueti 3
Shenyang 3
Tuoro sul Trasimeno 3
Tübingen 3
Villaricca 3
Adrano 2
Ariano Irpino 2
Bangor 2
Benalmádena 2
Berbenno di Valtellina 2
Bologna 2
Brescia 2
Brognaturo 2
Brussels 2
Cagliari 2
Cancellara 2
Como 2
Dearborn 2
Errachidia 2
Ferrara 2
Groningen 2
Gualtieri 2
Gurgaon 2
Indiana 2
Jerusalem 2
Kronberg 2
Langhirano 2
Ludhiana 2
Marino 2
Monsummano Terme 2
Montesilvano Marina 2
Nola 2
Norwalk 2
Oryol 2
Oxford 2
Palermo 2
Porcari 2
Prineville 2
Rimini 2
Râmnicu Vâlcea 2
San Chirico Raparo 2
Shenzhen 2
Springfield 2
St Petersburg 2
Stillwater 2
Totale 1.611
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Nome #
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 158
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 60
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 58
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 51
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy 50
The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications 50
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 49
Approcci diagnostico-terapeutici al dolore cronico delle patologie neurodegenerative: l'esempio delle leucodistrofie. 47
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 45
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia 45
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 44
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 43
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 42
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 41
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 41
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 41
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) 41
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 38
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 38
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 37
TREATMENT OF HYPERSALIVATION IN RETT SYNDROME WITH BOTULINUM TOXIN: EFFICACY AND CLINICAL IMPLICATIONS 37
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 36
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 35
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 35
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 34
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 34
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 34
Expansion of the phenotype of lateral meningocele syndrome 33
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 33
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study 32
Otorhinolaryngological management in the Mucopolysaccharidoses 31
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 31
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 30
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 30
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 29
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. 29
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 29
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 29
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 28
Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel-Trenaunay syndrome? 28
An extremely severe phenotype attributed to WDR81 nonsense mutations 28
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 27
Two cases of 16q12.1q21 deletions and refinement of the critical region 27
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 27
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 26
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects 26
The use of iPSC-derived neurons to study neurological disorders. Human models as new tools for drug development and precision medicine 25
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study 25
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 24
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 24
Clinical and functional consequences of C-terminal variants in MCT8: a case series 24
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 23
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 22
A pilot clinical trial with losartan in Myhre syndrome 22
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 21
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 21
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 21
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability 21
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 21
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome 20
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. 20
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant 20
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 19
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 19
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders 18
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum 18
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability 18
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 17
Sphingolipid metabolism perturbations in rett syndrome 17
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) 17
Long-term follow-up of an individual with ITPR1-related disorder 17
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 17
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 17
Peculiar footprints in a child with agenesis of corpus callosum 16
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 16
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 16
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum 15
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease 15
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 15
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 15
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 14
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 14
Rubinstein-Taybi syndrome in diverse populations 14
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 13
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 13
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum 11
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism 11
A systematic cross-sectional survey of multiple sulfatase deficiency 11
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 10
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome 10
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 9
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 9
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 9
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 8
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine 8
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights 7
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function 4
Totale 2.648
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Categoria #
all - tutte 13.751
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 13.751
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202080 0 0 0 0 0 0 5 1 21 11 32 10
2020/2021103 7 0 19 11 6 17 18 7 6 1 11 0
2021/2022362 6 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
2024/2025724 137 145 13 26 79 109 215 0 0 0 0 0
Totale 2.648