Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

(2021) Barbara Vona et al.   HUMAN GENETICS

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

(2020) Athar Khalil et al.   BMC Medical Genetics

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Characterization of the development of the mouse cochlear epithelium at the single cell level

(2020) Likhitha Kolla et al.   Nature Communications

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

(2019) Chong Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing

(2019) Paul T. Ranum et al.   Cell Reports

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

(2019) Marina T. DiStefano et al.   GENETICS IN MEDICINE

Consanguinity and Inbreeding in Health and Disease in North African Populations

(2019) Lilia Romdhane et al.   Annual Review of Genomics and Human Genetics

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

(2019) Imen Chakchouk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mouse screen reveals multiple new genes underlying mouse and human hearing loss

(2019) Neil J. Ingham et al.   PLOS BIOLOGY

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

(2019) Claire J. Sineni et al.   HUMAN GENETICS

MPZL2 , Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

(2018) Mieke Wesdorp et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

(2018) Isabelle Schrauwen et al.   BMC Medical Genetics

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

(2018) Sebastien P. F. JanssensdeVarebeke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic basis of hearing loss in Spanish, Hispanic and Latino populations

(2018) Rahul Mittal et al.   GENE

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

(2018) Sarah Sheppard et al.   GENETICS IN MEDICINE

Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

(2018) Rizwan Yousaf et al.   JOURNAL OF CLINICAL INVESTIGATION

Old gene, new phenotype: splice-altering variants inCEACAM16cause recessive non-syndromic hearing impairment

(2018) Kevin T Booth et al.   JOURNAL OF MEDICAL GENETICS

Developmental profiling of microRNAs in the human embryonic inner ear

(2018) Duncan M. Chadly et al.   PLoS One

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

(2018) Rizwan Yousaf et al.   PLoS Genetics

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

(2018) Matthew Neil Wakeling et al.   GENETICS IN MEDICINE

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Mutations in CDC14A , Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

(2016) Sedigheh Delmaghani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

(2016) Regie Lyn P. Santos-Cortez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing

(2016) A. Buniello et al.   EMBO Molecular Medicine

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss

(2016) Siqi Chen et al.   Genetic Testing and Molecular Biomarkers

A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear

(2016) Isabelle Schrauwen et al.   HEARING RESEARCH

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

(2016) Christina M. Sloan-Heggen et al.   HUMAN GENETICS

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

(2016) Oscar Diaz-Horta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Collapsed haplotype pattern method for linkage analysis of next-generation sequence data

(2015) Gao T Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

(2015) M'hamed Grati et al.   HUMAN MOLECULAR GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

A mutation ofMET, encoding hepatocyte growth factor receptor, is associated with humanDFNB97hearing loss

(2015) Ghulam Mujtaba et al.   JOURNAL OF MEDICAL GENETICS

Genetic linkage analysis in the age of whole-genome sequencing

(2015) Jurg Ott et al.   NATURE REVIEWS GENETICS

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

(2015) Malika Dahmani et al.   Orphanet Journal of Rare Diseases

SHIELD: an integrative gene expression database for inner ear research

(2015) Jun Shen et al.   Database-The Journal of Biological Databases and Curation

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

(2015) Mariella Simon et al.   PLoS Genetics

Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

(2014) Atteeq U. Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

(2014) Celia Zazo Seco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Consanguinity and genetic diseases in North Africa and immigrants to Europe

(2014) W. A. Anwar et al.   EUROPEAN JOURNAL OF PUBLIC HEALTH

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

(2014) R. L. P. Santos-Cortez et al.   HUMAN MOLECULAR GENETICS

Whole-Exome Sequencing Identifies a Variant inTMEM132ECausing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99

(2014) Jiangxia Li et al.   HUMAN MUTATION

A Frameshift Mutation inGRXCR2Causes Recessively Inherited Hearing Loss

(2014) Ayesha Imtiaz et al.   HUMAN MUTATION

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

(2014) Asma Behlouli et al.   Orphanet Journal of Rare Diseases

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

(2014) Oscar Diaz-Horta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Copy number variants are a common cause of non-syndromic hearing loss

(2014) A Shearer et al.   Genome Medicine

Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

(2013) Regie Lyn P. Santos-Cortez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DFNB16 is a frequent cause of congenital hearing impairment: implementation ofSTRCmutation analysis in routine diagnostics

(2013) B. Vona et al.   CLINICAL GENETICS

The LINC complex is essential for hearing

(2013) Henning F. Horn et al.   JOURNAL OF CLINICAL INVESTIGATION

GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

(2013) Dylan K. Chan et al.   LARYNGOSCOPE

Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss

(2013) Giorgia Girotto et al.   PLoS One

An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans

(2013) Thomas J. Jaworek et al.   PLoS Genetics

A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

(2012) Isabelle Schrauwen et al.   AMERICAN 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

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

(2012) Sedigheh Delmaghani et al.   HUMAN MOLECULAR GENETICS

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

(2012) Saima Riazuddin et al.   NATURE GENETICS

NCBI GEO: archive for functional genomics data sets—update

(2012) Tanya Barrett et al.   NUCLEIC ACIDS RESEARCH

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

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

DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3

(2011) RA Ali et al.   CLINICAL GENETICS

DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment

(2011) MA Tabatabaiefar et al.   CLINICAL GENETICS

Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

(2011) Juan Rodriguez-Paris et al.   PLoS One

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

(2011) Nikoletta Charizopoulou et al.   Nature Communications

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

(2010) Aslı Sırmacı et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

(2010) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

(2010) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74

(2010) Zubair M. Ahmed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2

(2010) Sulman Basit et al.   HUMAN GENETICS

Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome

(2009) Saima Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39

(2009) Julie M. Schultz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

(2009) Nicolas Grillet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15

(2009) AM Waryah et al.   CLINICAL GENETICS

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

(2009) Shahid Yar Khan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

(2009) Hashem Shahin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Consanguinity and reproductive health among Arabs

(2009) Ghazi O Tadmouri et al.   Reproductive Health

Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35

(2008) Rob W.J. Collin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A catechol-O-methyltransferase that is essential for auditory function in mice and humans

(2008) X. Du et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA