List of works - Antonio Vitobello

Hox and Pbx factors control retinoic acid synthesis during hindbrain segmentation.

scientific article published on April 2011

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

scientific article published on 2 November 2017

Gene bivalency at Polycomb domains regulates cranial neural crest positional identity

scientific article published in March 2017

Phenobarbital induces cell cycle transcriptional responses in mouse liver humanized for constitutive androstane and pregnane x receptors

scientific article published on April 2014

Noggin elicits retinal fate in Xenopus animal cap embryonic stem cells.

scientific article published in September 2009

Human teneurin-1 is a direct target of the homeobox transcription factor EMX2 at a novel alternate promoter

scientific article published on June 8, 2011

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 10 April 2018

MicroRNA-196b is transcribed from an autonomous promoter and is directly regulated by Cdx2 and by posterior Hox proteins during embryogenesis

scientific article

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

scientific article published on 28 March 2019

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

scientific article published on 01 September 2019

Autism and developmental disability caused by KCNQ3 gain-of-function variants

scientific article published on 26 June 2019

A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy

scientific article published on 11 August 2019

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

scientific article published on 28 August 2018

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

scientific article published on 11 August 2017

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

scientific article published on 27 February 2020

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

scientific article published on 20 February 2018

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

scientific article published on 23 June 2019

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 01 October 2018

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

scientific article published on 31 August 2018

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

scientific article published on 24 April 2019

Constitutive androstane receptor 1 is constitutively bound to chromatin and 'primed' for transactivation in hepatocytes

scientific article published on 25 October 2018

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

scientific article published on 22 January 2020

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

scientific article published on 11 April 2020

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

scientific article published on 28 February 2019

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

scientific article published on 26 August 2019

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases

scientific article published on 26 June 2019

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

scientific article published on 01 August 2019

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

scientific article published on 30 July 2020

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

scientific article published on 03 December 2021

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

scientific article published on 11 July 2019

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

scientific article published in August 2021

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

scientific article published on 01 June 2021

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

scientific article published on 30 April 2019

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

scientific article published on 18 January 2020

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies

scientific article published on 16 January 2024

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

scientific article published on 05 November 2020

Drug-induced chromatin accessibility changes associate with sensitivity to liver tumor promotion

scientific article published on 15 October 2019

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

scientific article published on 07 February 2022

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization

scientific article published on 27 January 2020

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

scientific article published on 11 February 2020

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

scientific article published in 2022

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

article

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations

scientific article published on 05 December 2020

Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

scientific article published on 26 April 2020

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

scientific article published in 2023

List of works by Antonio Vitobello

Hox and Pbx factors control retinoic acid synthesis during hindbrain segmentation.

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

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.

Human teneurin-1 is a direct target of the homeobox transcription factor EMX2 at a novel alternate promoter

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

MicroRNA-196b is transcribed from an autonomous promoter and is directly regulated by Cdx2 and by posterior Hox proteins during embryogenesis

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Autism and developmental disability caused by KCNQ3 gain-of-function variants

A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

Constitutive androstane receptor 1 is constitutively bound to chromatin and 'primed' for transactivation in hepatocytes

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Drug-induced chromatin accessibility changes associate with sensitivity to liver tumor promotion

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations

Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant