Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss

(2015) Saba Battelino et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

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

Genetic investigations in childhood deafness

(2014) Michael Parker et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42

(2014) Qing Sang et al.   HUMAN MOLECULAR GENETICS

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

Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder

(2013) Jernej Kovač et al.   Autism Research

Next-Generation Sequencing in Genetic Hearing Loss

(2013) Denise Yan et al.   Genetic Testing and Molecular Biomarkers

Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern Refugia

(2012) Maria Pala et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

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