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Publications by Isabelle Drumare

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

American Journal of Human Genetics

English

Mild Form of Oculocutaneous Albinism Type 1: Phenotypic Analysis of Compound Heterozygous Patients With the R402Q Variant of the TYR Gene

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Related publications

Congenital Stationary Night Blindness

English

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

Scientific Reports

Multidisciplinary

English

Whole-Exome Sequencing Identifies Somatic ATRX Mutations in Pheochromocytomas and Paragangliomas

Nature Communications

Molecular Biology

English

Whole-Exome Sequencing Identifies Causative Mutations in Families With Congenital Anomalies of the Kidney and Urinary Tract

Journal of the American Society of Nephrology : JASN

English

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

English

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

BioMed Research International

Molecular Biology

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

JAMA Ophthalmology

English

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology

Molecular Biology

English