Kolexia
Mosca Boidron Anne Laure Génétique médicale
Mosca Boidron Anne Laure
Génétique médicale
Pôle de Biologie
Dijon, France
82 Activités
20 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Malformations multiples Prédisposition génétique à une maladie Aberrations des chromosomes Retard mental lié à l'X Maladies rares Épilepsie Duplication chromosomique

Collaborateurs

Voir plus
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Callier Patrick
Callier Patrick
Pôle de Biologie, Dijon, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France
Thevenon Julien
Thevenon Julien
Hôpital Nord Grenoble, La Tronche, France

Industries

Voir plus
{{person.topindus1.name}}
{{person.topindus1.tot}} collaboration(s)
Dernière en {{person.topindus1.last}}
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Voir plus
Interest of exome sequencing in non-syndromic specific learning disorders: a French pilot study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
American journal of human genetics   14 novembre 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv : the preprint server for health sciences   26 mai 2023
Double inversion paracentrique parentale du même bras chromosomique à l’origine de chromosomes recombinants monocentriques atypiques : apport de la cartographie optique
Congrès AM/CHEC 2022   01 septembre 2022
The clinical and neuroradiological spectrum of variants in the GAR domain of MACF1
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Annals of human genetics   09 février 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Molecular genetics & genomic medicine   30 octobre 2021
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Molecular genetics and metabolism reports   18 octobre 2021
Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
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.
Human genetics   12 mai 2020