About: Antonio Vitobello

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An Entity of Type : foaf:Person, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Person
sameAs	Vitobello, Antonio Vitobello, Antonio
preferred label	Vitobello, Antonio
name	Antonio Vitobello
dbpedia-owl:citizenship	http://sws.geonames.org/3017382/
Language	http://lexvo.org/id/iso639-3/fra
Given name	Antonio
familyName	Vitobello
has biographical i...tion (Deprecated)	Co-directeur d'une thèse en Santé (Dijon, 2019). Directeur d'une thèse d'exercice de médecine (Dijon, 2022) Le Dr Antonio Vitobello, expert en génomique et multi-omics est responsable du groupe OMICS. Il est également membre de l’Unité Fonctionnelle Innovation en diagnostic génomique des maladies rares du CHU Dijon Bourgogne.
gender	male
ORCID iD	0000-0003-3717-8374
is sameAs of	Vitobello, Antonio Vitobello, Antonio Vitobello, Antonio
is Thesis advisor of	http://www.sudoc.fr/279471211/id Exploration pangénomique des anomalies du développement de causes rares http://www.sudoc.fr/242731562/id http://www.sudoc.fr/242924883/id http://www.sudoc.fr/267797699/id http://www.sudoc.fr/280954832/id http://www.sudoc.fr/267797796/id
is Author of	Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing Solving patients with rare diseases through programmatic reanalysis of genome-phenome data https://serval.unil.ch/notice/serval:BIB_1608AF26CE53#id Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features http://hub.abes.fr/cairn/periodical/seve1/2019/issue_seve1062/D339F16876D42CD9E053120B220AD689/w Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Autism and developmental disability caused by KCNQ3 gain‐of‐function variants A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis https://hal.archives-ouvertes.fr/hal-02467795#id DLG4-related synaptopathy: a new rare brain disorder Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics P09.084C - Strong interest of exome sequencing in progressive neurological diseases Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics https://serval.unil.ch/notice/serval:BIB_0EBEF17D8EA2#id Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes 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 OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders http://hub.abes.fr/edp/periodical/medsci/2024/volume_40/issue_89/msc240077/w Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects https://serval.unil.ch/notice/serval:BIB_83FFDC95F451#id High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics https://serval.unil.ch/notice/serval:BIB_9F1FCE7610D3#id PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool https://serval.unil.ch/notice/serval:BIB_64727C0AA5E2#id
is primary topic of	http://www.idref.fr/242727026
is Thesis referee of	http://www.sudoc.fr/248590391/id

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