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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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Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

American journal of human genetics, 2018-10, Vol.103 (4), p.484-497

2018

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In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

PloS one, 2023-01, Vol.18 (1), p.e0273586-e0273586

2023

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss

PloS one, 2022-11, Vol.17 (11), p.e0276233-e0276233

2022

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Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

PloS one, 2021-10, Vol.16 (10), p.e0258777-e0258777

2021

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Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan

PloS one, 2021-10, Vol.16 (10), p.e0259083-e0259083

2021

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SIRT3 promotes auditory function in young adult FVB/nJ mice but is dispensable for hearing recovery after noise exposure

PloS one, 2020-07, Vol.15 (7), p.e0235491

2020

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Exonic mutations and exon skipping: Lessons learned from DFNA5

Human mutation, 2018-03, Vol.39 (3), p.433-440

2018

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DFNA5 ( GSDME ) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

International journal of molecular sciences, 2020-05, Vol.21 (11), p.3951

2020

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Paraoxonase 3 gene polymorphisms are associated with occupational noise-induced deafness: A matched case-control study from China

PloS one, 2020-10, Vol.15 (10), p.e0240615

2020

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Deaf intermarriage has limited effect on the prevalence of recessive deafness and no effect on underlying allelic frequency

PloS one, 2020-11, Vol.15 (11), p.e0241609-e0241609

2020

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High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

Journal of the American Society of Nephrology, 2016-04, Vol.27 (4), p.1245-1253

2016

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DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss

Human genetics, 2022-04, Vol.141 (3-4), p.401-411

2022

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A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia

PloS one, 2020-11, Vol.15 (11), p.e0242219-e0242219

2020

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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

Orphanet journal of rare diseases, 2012-08, Vol.7 (1), p.52-52, Article 52

2012

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Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Genetics in medicine, 2019-04, Vol.21 (4), p.948-954

2019

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

Human genetics, 2021-06, Vol.140 (6), p.915-931

2021

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The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

Human genetics, 2022-04, Vol.141 (3-4), p.853-863

2022

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

Genome medicine, 2014-05, Vol.6 (5), p.37-37

2014

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When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

Journal of human genetics, 2020-07, Vol.65 (7), p.609-617

2020

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Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

Scientific reports, 2020-04, Vol.10 (1), p.6213-6213, Article 6213

2020

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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

EMBO molecular medicine, 2017-12, Vol.9 (12), p.1711-1731

2017

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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

European journal of human genetics : EJHG, 2021-06, Vol.29 (6), p.988-997

2021

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

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan

SIRT3 promotes auditory function in young adult FVB/nJ mice but is dispensable for hearing recovery after noise exposure

Exonic mutations and exon skipping: Lessons learned from DFNA5

DFNA5 ( GSDME ) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

Paraoxonase 3 gene polymorphisms are associated with occupational noise-induced deafness: A matched case-control study from China

Deaf intermarriage has limited effect on the prevalence of recessive deafness and no effect on underlying allelic frequency

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss

A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

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

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

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

When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

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