Publications by authors named "Francois Lecoquierre"

17Publications

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 Jul 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.

Eur J Med Genet 2020 Apr 24;63(4):103773. Epub 2019 Sep 24.

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, F76000, Rouen, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103773DOI Listing
April 2020

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

Am J Med Genet A 2019 11 7;179(11):2257-2262. Epub 2019 Aug 7.

Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.a.61317DOI Listing
November 2019