Publications by authors named "Stephanie Vasseur"

8Publications

Blood functional assay for rapid clinical interpretation of germline variants.

J Med Genet 2020 Oct 13. Epub 2020 Oct 13.

Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.

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http://dx.doi.org/10.1136/jmedgenet-2020-107059DOI Listing
October 2020

Characterisation of heterozygous variants in French patients with Lynch syndrome.

J Med Genet 2020 Jul 28;57(7):487-499. Epub 2020 Jan 28.

Department of Genetics, Rouen University Hospital and UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.1136/jmedgenet-2019-106256DOI Listing
July 2020

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.

Acta Neuropathol Commun 2019 12 3;7(1):191. Epub 2019 Dec 3.

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

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http://dx.doi.org/10.1186/s40478-019-0841-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892231PMC
December 2019

The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome.

Fam Cancer 2014 Mar;13(1):127-30

Inserm U1079, Institute for Research and Innovation in Biomedicine, University of Rouen, 76183, Rouen, France.

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http://dx.doi.org/10.1007/s10689-013-9667-2DOI Listing
March 2014