Kolexia
Thevenon Julien Génétique médicale
Thevenon Julien
Génétique médicale
Hôpital Nord Grenoble
La Tronche, France
272 Activités
141 Followers
Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Prédisposition génétique à une maladie Épilepsie Malformations multiples Faciès Microcéphalie Encéphalopathies Délétion de segment de chromosome Malformations crâniofaciales

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France
Callier Patrick
Callier Patrick
Pôle de Biologie, Dijon, France
Lehalle Daphné
Lehalle Daphné
Hôpital Pitie Salpetriere, Paris, France

Industries

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Pfizer
1 collaboration(s)
Dernière en 2019
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Dernières activités

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MOSAÏQUE: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Essai Clinique (CHU Dijon-Bourgogne)   20 février 2024
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
European journal of medical genetics   12 février 2024
Data (gold) mining in genomic databases subsequent to intensive prospective bibliographic monitoring: a substantial diagnostic rate
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
SeqOneRank+: a machine learning model to rank genetic variants based on phenotypes and ACMG criteria
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
DISSEQ – Double-blind exome and large gene panel sequencing analyses in the first-line diagnosis of 330 patients with intellectual disability (ID): ES superiority for the identification of CNV, variants in new disease-causing genes, and new candidate genes, as well as the advantage of possible prospective reanalysis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Human molecular genetics   06 octobre 2023
Growth charts in DYRK1A syndrome.
American journal of medical genetics. Part A   22 septembre 2023
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
The Journal of clinical endocrinology and metabolism   21 août 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Journal of medical genetics   16 août 2023
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
American journal of human genetics   18 juillet 2023