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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

Journal of medical genetics, 2005-07, Vol.42 (7), p.588-594

2005

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Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

Journal of medical genetics, 2003-10, Vol.40 (10), p.767-772

2003

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Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India

Journal of medical genetics, 2003-05, Vol.40 (5), p.e68-68

2003

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Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans

Science (American Association for the Advancement of Science), 1998-03, Vol.279 (5358), p.1950-1954

1998

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Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84

Journal of medical genetics, 2010-09, Vol.47 (9), p.643-645

2010

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From Flies' Eyes to Our Ears: Mutations in a Human Class III Myosin Cause Progressive Nonsyndromic Hearing Loss DFNB30

Proceedings of the National Academy of Sciences - PNAS, 2002-05, Vol.99 (11), p.7518-7523

2002

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Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss

American journal of human genetics, 2006-01, Vol.78 (1), p.144-152

2006

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Otoancorin, An Inner Ear Protein Restricted to the Interface between the Apical Surface of Sensory Epithelia and Their Overlying Acellular Gels, Is Defective in Autosomal Recessive Deafness DFNB22

Proceedings of the National Academy of Sciences - PNAS, 2002-04, Vol.99 (9), p.6240-6245

2002

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Hearing loss: mechanisms revealed by genetics and cell biology

Annual review of genetics, 2009-12, Vol.43 (1), p.411-437

2009

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Mouse models for human deafness: current tools for new fashions

Trends in Molecular Medicine, 2002-09, Vol.8 (9), p.447-451

2002

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Sounds from the cochlea

Nature (London), 1997-12, Vol.390 (6660), p.559-560

Avraham, Karen B

1997

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Inherited Connexin Mutations Associated with Hearing Loss

Cell communication & adhesion, 2001, Vol.8 (4-6), p.419-424

Avraham, Karen B.

2001

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Genomic structure of the human unconventional myosin VI gene

Gene, 2000-12, Vol.261 (2), p.269-275

2000

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A Mutation of PCDH15 among Ashkenazi Jews with the Type 1 Usher Syndrome

The New England journal of medicine, 2003-04, Vol.348 (17), p.1664-1670

2003

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Therapeutics of hearing loss: expectations vs reality

Drug discovery today, 2005-10, Vol.10 (19), p.1323-1330

2005

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USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

European journal of human genetics : EJHG, 2002-06, Vol.10 (6), p.339-350

2002

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Unconventional myosins and the genetics of hearing loss

American journal of medical genetics, 1999-09, Vol.89 (3), p.147-157

1999

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Connexin-associated deafness and speech perception outcome of cochlear implantation

Archives of otolaryngology--head & neck surgery, 2006-05, Vol.132 (5), p.495

2006

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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Human mutation, 2018-11, Vol.39 (11), p.1593-1613

2018

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Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss

PLoS genetics, 2014-10, Vol.10 (10), p.e1004688-e1004688

2014

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Time-dependent Gene Expression Analysis of the Developing Superior Olivary Complex

The Journal of biological chemistry, 2013-09, Vol.288 (36), p.25865-25879

2013

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

European journal of human genetics : EJHG, 2010-04, Vol.18 (4), p.407-413

2010

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Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population

Human genomics, 2006-01, Vol.2 (4), p.203-211, Article 203

2006

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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India

Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84

From Flies' Eyes to Our Ears: Mutations in a Human Class III Myosin Cause Progressive Nonsyndromic Hearing Loss DFNB30

Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss

Otoancorin, An Inner Ear Protein Restricted to the Interface between the Apical Surface of Sensory Epithelia and Their Overlying Acellular Gels, Is Defective in Autosomal Recessive Deafness DFNB22

Hearing loss: mechanisms revealed by genetics and cell biology

Mouse models for human deafness: current tools for new fashions

Sounds from the cochlea

Inherited Connexin Mutations Associated with Hearing Loss

Genomic structure of the human unconventional myosin VI gene

A Mutation of PCDH15 among Ashkenazi Jews with the Type 1 Usher Syndrome

Therapeutics of hearing loss: expectations vs reality

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Unconventional myosins and the genetics of hearing loss

Connexin-associated deafness and speech perception outcome of cochlear implantation

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss

Time-dependent Gene Expression Analysis of the Developing Superior Olivary Complex

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

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population

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