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Publications by Hélène Dollfus

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

American Journal of Human Genetics

Genetics

2019

English

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

American Journal of Human Genetics

Genetics

2012

English

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

Clinical Journal of the American Society of Nephrology

Intensive Care Medicine

2010

English

Exome Sequencing of Bardet–Biedl Syndrome Patient Identifies a Null Mutation in the BBSome subunitBBIP1(BBS18)

Journal of Medical Genetics

Genetics

2013

English

Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

Human Mutation

Genetics

2019

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

English

An Ontological Foundation for Ocular Phenotypes and Rare Eye Diseases

Orphanet Journal of Rare Diseases

English

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

Frontiers in Physiology

Physiology

2016

English

SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

Archives of Neurology

2011

English

Syndrome De Bardet-Biedl : Cils Et Obésité

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Hélène Dollfus

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

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

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

Exome Sequencing of Bardet–Biedl Syndrome Patient Identifies a Null Mutation in the BBSome subunitBBIP1(BBS18)

Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

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

An Ontological Foundation for Ocular Phenotypes and Rare Eye Diseases

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

Syndrome De Bardet-Biedl : Cils Et Obésité