Valerie Garraud-Drouin

Rouen, France

Last Updated: 09/26/2026

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Found 17 publications

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Journal: Journal of medical genetics

Published: September 18, 2023

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

Journal: European journal of medical genetics

Published: June 03, 2020

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Journal: Translational psychiatry

Published: December 02, 2019

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.

Journal: Electrophoresis

Published: January 15, 2018

Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.

Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.

Journal: Clinical chemistry

Published: September 08, 2017

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Journal: Journal of medical genetics

Published: July 01, 2017

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Journal: European journal of human genetics : EJHG

Published: November 22, 2014

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Journal: Orphanet journal of rare diseases

Published: October 10, 2014

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Journal: PloS one

Published: September 22, 2014

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Journal: Journal of medical genetics

Published: August 30, 2014

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 18, 2014

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Journal: European journal of human genetics : EJHG

Published: December 08, 2013

Showing 1-12 of 17

Last Updated: 09/26/2026