Kolexia
Pichon Olivier Médecine générale
Pichon Olivier
Médecine générale
Cabinet libéral
Nantes, France
69 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Translocation génétique Faciès Malformations multiples Prédisposition génétique à une maladie Cardiopathies congénitales Nanisme Syndrome de Hajdu-Cheney

Collaborateurs

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Le Caignec Cedric
Le Caignec Cedric
Hôpital Purpan, Toulouse, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France
David Albert
David Albert
CHU Nantes, Nantes, France
Nizon Mathilde
Nizon Mathilde
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

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GSK
15 collaboration(s)
Dernière en 2023
Sanofi
2 collaboration(s)
Dernière en 2021
Menarini
2 collaboration(s)
Dernière en 2022
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{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

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Optical Genome Mapping. Contribution to the Etiological Diagnosis of Developmental disorders : experience of the Nantes Genetic Department on over 60 individuals
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
Optical Genome Mapping Combined with High-Throughput Sequencing Is Effective for the Diagnostic and Prognostic Genomic Classification of Acute Myeloid Leukemia and Myelodysplastic Neoplasms
65th ASH Annual Meeting Abstracts   02 novembre 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
Journal of medical genetics   26 juillet 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv : the preprint server for health sciences   26 mai 2023
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Journal of medical genetics   22 septembre 2022
Large genomic imbalances and phenotype
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genetics in medicine : official journal of the American College of Medical Genetics   10 février 2022
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
Clinical genetics   28 décembre 2021
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
Neurogenetics   16 juin 2021