Tran Mau Them Frederic

Tran Mau Them Frederic

Génétique médicale

Hôpital François Mitterrand
Dijon, France

153 Activités

78 Followers

Scientifique

Digital

Production scientifique

Activités par an

Expertise

Sujets de recherche

Déficience intellectuelle Épilepsie Prédisposition génétique à une maladie Maladies rares Microcéphalie Malformations multiples Encéphalopathies Mégalencéphalie Faciès

Collaborateurs

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Olivier-Faivre Laurence

Hôpital François Mitterrand, Dijon, France

Thauvin-Robinet Christel

Hôpital François Mitterrand, Dijon, France

Moutton Sebastien

Msp Bordeaux Bagatelle, Talence, France

Denomme-Pichon Anne-Sophie

Hôpital François Mitterrand, Dijon, France

Industries

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Sanofi

1 collaboration(s)

Dernière en 2018

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Dernières activités

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Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Clinical genetics 29 janvier 2024

Uncertainty in prenatal molecular diagnosis : dual diagnosis in two fetuses as new challenges for further debate on reporting policies

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference 01 janvier 2024

OMIXCARE: OMICS technologiessolved about 33% of the patientswith heterogeneous rareneuro-developmental disordersand negative exome sequencingresults and identified 13%additional candidate variants

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference 01 janvier 2024

Further phenotypical delineation of DLG3 related Intellectual developmental disorder: description of 9 new cases

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference 01 janvier 2024

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference 01 janvier 2024

DNA episignature for White Sutton syndrome due to POGZ episignature

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference 01 janvier 2024

Genomic newborn screening in France: from a social acceptability study to a pilot project

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference 01 janvier 2024

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder - virtual

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference 01 janvier 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

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