Genotype phenotype correlations for hearing impairment: Approaches to management

Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family

(2014) Anne-Martine R. de Heer et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

Genetic Basis of Y-Linked Hearing Impairment

(2013) Qiuju Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

(2013) Lies H Hoefsloot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

(2012) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

(2012) Kemal O. Yariz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal recessive nonsyndromic deafness genes: a review

(2012) Duygu Duman   Frontiers in Bioscience-Landmark

Genenames.org: the HGNC resources in 2013

(2012) Kristian A. Gray et al.   NUCLEIC ACIDS RESEARCH

Usher syndrome (sensorineural deafness and retinitis pigmentosa)

(2011) Crystel Bonnet et al.   CURRENT OPINION IN NEUROLOGY

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

(2010) Arjan P.M. de Brouwer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Investigation of the child with permanent hearing impairment

(2010) B. M. Ardle et al.   Archives of Disease in Childhood-Education and Practice Edition

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

(2010) C. J. Schoen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss

(2009) Michael S. Hildebrand et al.   LARYNGOSCOPE

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus

(2008) Michael S Hildebrand et al.   GENETICS IN MEDICINE

Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

(2008) Nele Hilgert et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH