Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients

(2016) Simona Marková et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

(2016) Alexander Y. Сhurbanov et al.   PLoS One

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

(2015) Guney Bademci et al.   GENETICS IN MEDICINE

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

(2015) ZOHREH MEHRJOO et al.   JOURNAL OF GENETICS

Deficiency of Angulin-2/ILDR1, a Tricellular Tight Junction-Associated Membrane Protein, Causes Deafness with Cochlear Hair Cell Degeneration in Mice

(2015) Tomohito Higashi et al.   PLoS One

Downsloping High-Frequency Hearing Loss Due to Inner Ear Tricellular Tight Junction Disruption by a Novel ILDR1 Mutation in the Ig-Like Domain

(2015) Nayoung K. D. Kim et al.   PLoS One

ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42

(2015) Q. Sang et al.   Biology Open

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

(2015) Fei Liu et al.   PLoS One

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

Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss

(2014) Guney Bademci et al.   Genetic Testing and Molecular Biomarkers

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

(2014) Eva L. Morozko et al.   HUMAN MOLECULAR GENETICS

Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis

(2014) Hidekane Yoshimura et al.   PLoS One

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

(2014) Yali Zhao et al.   PLoS One

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

(2013) Gibeom Park et al.   BMC GENOMICS

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

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

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

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Analysis of gene expression profiles along the tonotopic map of mouse cochlea by cDNA microarrays

(2009) Takashi Sato et al.   ACTA OTO-LARYNGOLOGICA

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

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

(2009) Prateek Kumar et al.   Nature Protocols

Calnuc Binds to LRP9 and Affects its Endosomal Sorting

(2009) Julie Brodeur et al.   TRAFFIC