Identification of a novel missense mutation in theWFS1gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies

WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case

(2014) A.C. Gonçalves et al.   GENE

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

(2013) Miguel López de Heredia et al.   GENETICS IN MEDICINE

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Teaching NeuroImages: A neuroendocrine rarity: Wolfram syndrome

(2013) T. C. Vale et al.   NEUROLOGY

Wolfram Syndrome: New Mutations, Different Phenotype

(2012) Concetta Aloi et al.   PLoS One

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

(2012) Yun Wang et al.   PLoS One

Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss

(2011) Yi Sun et al.   Journal of Genetics and Genomics

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

(2010) Emilie Lalonde et al.   HUMAN MUTATION

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation inWFS1

(2008) Michael S. Hildebrand et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

(2008) Naomi F Bramhall et al.   BMC Medical Genetics