List of works - Laurence Olivier-Faivre

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

scientific article published on 22 January 2020

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

scientific article published in December 2017

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

scientific article published on 14 May 2020

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

scientific article published on 26 August 2019

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

scientific article published on 31 March 2018

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

scientific article published on 10 April 2020

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

scientific article published on 23 September 2018

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

scientific article published on 23 September 2018

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization

scientific article published on 27 January 2020

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

scientific article published on 30 July 2020

Growth charts in Kabuki syndrome 1

scientific article published on 26 December 2019

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

scientific article published on 09 August 2019

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases

scientific article published on 26 June 2019

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

scientific article published on 18 January 2020

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

scientific article published on 27 November 2017

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

scientific article published on 5 April 2021

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

scientific article published on 26 October 2018

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

scientific article published on 10 December 2018

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

scientific article published on 30 April 2019

List of works by Laurence Olivier-Faivre