IRIS
CAPPUCCIO, GERARDA
 Distribuzione geografica
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Continente #
NA - Nord America 1.008
EU - Europa 514
AS - Asia 121
AF - Africa 26
SA - Sud America 7
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 1
Totale 1.679
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Nazione #
US - Stati Uniti d'America 985
IT - Italia 293
CN - Cina 85
NL - Olanda 73
IE - Irlanda 30
DE - Germania 28
CI - Costa d'Avorio 24
FI - Finlandia 23
CA - Canada 21
IN - India 16
GB - Regno Unito 14
FR - Francia 13
BG - Bulgaria 6
ES - Italia 6
HK - Hong Kong 6
IL - Israele 6
BE - Belgio 5
CH - Svizzera 5
SG - Singapore 5
RU - Federazione Russa 4
BR - Brasile 3
CO - Colombia 3
PL - Polonia 3
SE - Svezia 3
EU - Europa 2
MA - Marocco 2
MX - Messico 2
NO - Norvegia 2
UA - Ucraina 2
AT - Austria 1
GR - Grecia 1
IR - Iran 1
NZ - Nuova Zelanda 1
PE - Perù 1
RO - Romania 1
RS - Serbia 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 1.679
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Città #
Chandler 213
Ashburn 84
Millbury 65
Amsterdam 64
Des Moines 47
Lawrence 46
Naples 46
Boston 40
Nanjing 33
Napoli 31
Beijing 25
Princeton 24
Wilmington 21
Ottawa 18
Houston 17
Rome 10
Nanchang 8
Pune 8
Catania 7
Washington 7
Woodbridge 7
Turin 6
Boardman 5
Dublin 5
Falls Church 5
Hebei 5
Seattle 5
Alcalá De Henares 4
Bari 4
Budrio 4
Central 4
Fairfield 4
Guangzhou 4
London 4
Redwood City 4
Sofia 4
Waanrode 4
Bnei Brak 3
Capoliveri 3
Jiaxing 3
Lappeenranta 3
Lecce 3
Los Angeles 3
Medellín 3
New Delhi 3
Rueti 3
Tuoro sul Trasimeno 3
Tübingen 3
Villaricca 3
Adrano 2
Ariano Irpino 2
Bangor 2
Benalmádena 2
Brescia 2
Brognaturo 2
Cagliari 2
Cancellara 2
Como 2
Dearborn 2
Errachidia 2
Ferrara 2
Gualtieri 2
Gurgaon 2
Helsinki 2
Hong Kong 2
Indiana 2
Jerusalem 2
Kronberg 2
Monsummano Terme 2
Nola 2
Norwalk 2
Oxford 2
Porcari 2
San Chirico Raparo 2
Shenyang 2
St Petersburg 2
Treviso 2
Utrecht 2
Verona 2
Zurich 2
Albinea 1
Algard 1
Ann Arbor 1
Augusta 1
Avellino 1
Belgrade 1
Brest 1
Brussels 1
Burgas 1
Böblingen 1
Cambridge 1
Changsha 1
Cormeilles-en-Parisis 1
Culiacán 1
Dallas 1
Desio 1
Edison 1
Eindhoven 1
Florence 1
Frattamaggiore 1
Totale 1.010
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Nome #
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 115
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 50
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 49
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy 45
The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications 43
Approcci diagnostico-terapeutici al dolore cronico delle patologie neurodegenerative: l'esempio delle leucodistrofie. 42
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 41
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 41
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 36
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 35
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia 35
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 32
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 31
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 31
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) 31
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 30
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 28
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 28
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 27
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 27
TREATMENT OF HYPERSALIVATION IN RETT SYNDROME WITH BOTULINUM TOXIN: EFFICACY AND CLINICAL IMPLICATIONS 27
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 27
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 27
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 26
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 25
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 25
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 24
An extremely severe phenotype attributed to WDR81 nonsense mutations 23
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 23
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 22
Otorhinolaryngological management in the Mucopolysaccharidoses 22
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 22
Expansion of the phenotype of lateral meningocele syndrome 22
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 22
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 21
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. 21
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 20
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 19
The use of iPSC-derived neurons to study neurological disorders. Human models as new tools for drug development and precision medicine 18
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 18
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 17
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 17
Clinical and functional consequences of C-terminal variants in MCT8: a case series 17
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects 17
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 17
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 16
Two cases of 16q12.1q21 deletions and refinement of the critical region 16
A pilot clinical trial with losartan in Myhre syndrome 16
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study 16
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 15
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 15
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant 15
Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel-Trenaunay syndrome? 14
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. 14
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability 14
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome 13
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 13
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 13
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 12
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 12
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 12
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 11
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 11
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 11
Peculiar footprints in a child with agenesis of corpus callosum 11
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum 10
Sphingolipid metabolism perturbations in rett syndrome 10
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 10
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 9
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 9
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders 8
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 8
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) 8
Long-term follow-up of an individual with ITPR1-related disorder 8
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability 8
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 8
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 7
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum 7
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 7
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 7
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease 6
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum 6
A systematic cross-sectional survey of multiple sulfatase deficiency 6
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 6
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights 5
Rubinstein-Taybi syndrome in diverse populations 5
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 5
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 5
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study 4
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 4
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism 4
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome 4
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine 3
Totale 1.793
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Categoria #
all - tutte 8.522
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 8.522
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20192 0 0 0 0 0 0 0 0 0 0 2 0
2019/2020148 49 8 2 6 1 2 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
2023/2024417 41 86 48 45 22 64 23 53 11 22 2 0
Totale 1.793