Joris Andrieux

Lille, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 90 publications

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Journal: American journal of medical genetics. Part A

Published: July 22, 2023

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Journal: Clinical genetics

Published: October 06, 2021

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

Journal: American journal of human genetics

Published: May 22, 2020

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

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

Published: April 17, 2018

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Journal: Journal of medical genetics

Published: March 26, 2018

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Journal: Human mutation

Published: September 19, 2017

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Journal: European journal of human genetics : EJHG

Published: September 15, 2017

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Journal: Journal of medical genetics

Published: September 06, 2017

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Journal: Human genetics

Published: June 30, 2017

FOXP1-related intellectual disability syndrome: a recognisable entity.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Journal: Journal of medical genetics

Published: January 31, 2017

Showing 1-12 of 90

Last Updated: 09/26/2026