Laurence Faivre-Olivier - Publications

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age.

Journal: Journal of clinical medicine

Published: March 08, 2023

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.

Journal: Investigative ophthalmology & visual science

Published: September 11, 2020

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: January 30, 2018

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

Journal: The Journal of pediatrics

Published: September 29, 2016

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

Journal: Journal of medical genetics

Published: November 21, 2014

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

Journal: Journal of medical genetics

Published: August 30, 2014

Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1.

Journal: JAMA dermatology

Published: November 22, 2013

Diversity of the clinical presentation of the MMR gene biallelic mutations.

Journal: Familial cancer

Published: September 27, 2013