Dominique Gaillard - Publications

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Journal: European journal of human genetics : EJHG

Published: December 13, 2021

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.

Journal: Human genetics

Published: June 03, 2021

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

Journal: Journal of medical genetics

Published: February 24, 2020

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.

Journal: Archives of disease in childhood. Fetal and neonatal edition

Published: February 25, 2019

Genetics of Usher Syndrome: New Insights From a Meta-analysis.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: December 12, 2018

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.

Journal: Journal of neuromuscular diseases

Published: April 05, 2018

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Journal: The New England journal of medicine

Published: January 26, 2017

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Journal: Journal of the American Society of Nephrology : JASN

Published: January 14, 2017

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Journal: Journal of medical genetics

Published: December 14, 2016

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

Journal: PLoS biology

Published: July 16, 2015

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

Journal: American journal of human genetics

Published: February 13, 2015

Genome-wide paternal uniparental disomy as a cause of Beckwith-Wiedemann syndrome associated with recurrent virilizing adrenocortical tumors.

Journal: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme

Published: November 04, 2014