Kolexia
Denomme-Pichon Anne-Sophie Biologie médicale
Denomme-Pichon Anne-Sophie
Biologie médicale
Hôpital François Mitterrand
Dijon, France
123 Activités
214 Followers
Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Épilepsie Maladies rares Microcéphalie Faciès Encéphalopathies Crises épileptiques Troubles du développement du langage Défaillance cardiaque

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Tran Mau Them Frederic
Tran Mau Them Frederic
Hôpital François Mitterrand, Dijon, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2020
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Dernières activités

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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
European journal of human genetics : EJHG   15 février 2024
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clinical genetics   29 janvier 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
American journal of human genetics   08 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
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
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
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia   22 décembre 2023