about
Hox and Pbx factors control retinoic acid synthesis during hindbrain segmentation.Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.MicroRNA-196b is transcribed from an autonomous promoter and is directly regulated by Cdx2 and by posterior Hox proteins during embryogenesis.Phenobarbital induces cell cycle transcriptional responses in mouse liver humanized for constitutive androstane and pregnane x receptors.Noggin elicits retinal fate in Xenopus animal cap embryonic stem cells.Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.Gene bivalency at Polycomb domains regulates cranial neural crest positional identity.Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literatureA Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar DysgenesisConstitutive androstane receptor 1 is constitutively bound to chromatin and 'primed' for transactivation in hepatocytes2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseasesEvaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersSecondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive testsDrug-induced chromatin accessibility changes associate with sensitivity to liver tumor promotionDe novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathyVariant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variantsFurther delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureDe Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental DisorderDe Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeDeciphering exome sequencing data: Bringing mitochondrial DNA variants to lightDe novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesClinical and genetic characterization of individuals with predicted deleterious PHIP variantsAutism and developmental disability caused by KCNQ3 gain-of-function variantsMutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentNovel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literatureA novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsyCardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genesGenome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterizationIncreased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencingHearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new casesReport of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunctionNext-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Antonio Vitobello
@ast
Antonio Vitobello
@en
Antonio Vitobello
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Antonio Vitobello
@nl
Antonio Vitobello
@sl
type
label
Antonio Vitobello
@ast
Antonio Vitobello
@en
Antonio Vitobello
@es
Antonio Vitobello
@nl
Antonio Vitobello
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prefLabel
Antonio Vitobello
@ast
Antonio Vitobello
@en
Antonio Vitobello
@es
Antonio Vitobello
@nl
Antonio Vitobello
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P106
P1153
35312718500
P21
P31
P496
0000-0003-3717-8374