Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population

(2014) Khushnooda Ramzan et al.   European Journal of Medical Genetics

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

(2012) Mojgan Babanejad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2 - tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis

(2012) T. Higashi et al.   JOURNAL OF CELL SCIENCE

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

(2012) Oscar Diaz-Horta et al.   PLoS One

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

(2011) Guntram Borck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

(2010) Nejat Mahdieh et al.   JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

(2010) A. E. Shearer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols