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Congenital hearing loss

Nature reviews. Disease primers, 2017-01, Vol.3, p.16094

2017

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Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

EMBO molecular medicine, 2023-10, Vol.15 (10), p.e17393-e17393

2023

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Genetic investigations in childhood deafness

Archives of disease in childhood, 2015-03, Vol.100 (3), p.271-278

2015

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A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

American journal of medical genetics. Part A, 2013-01, Vol.161A (1), p.145-152

2013

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Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1298-1313

2011

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Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

Human reproduction (Oxford), 2006-10, Vol.21 (10), p.2467-2473

2006

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DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

Human mutation, 2016-08, Vol.37 (8), p.812-819

2016

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SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

Human molecular genetics, 2018-06, Vol.27 (11), p.1927-1940

2018

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Prevalence of Mitochondrial 1555A→G Mutation in European Children

The New England journal of medicine, 2009-02, Vol.360 (6), p.640-642

2009

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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Nature genetics, 2011-03, Vol.43 (3), p.197

2011

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Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

Journal of medical genetics, 2012-01, Vol.49 (1), p.27-36

2012

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A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

American journal of human genetics, 2009-05, Vol.84 (5), p.558-566

2009

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Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

Scientific reports, 2020-08, Vol.10 (1), p.13763-13763, Article 13763

2020

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GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

American journal of human genetics, 2005-12, Vol.77 (6), p.945-957

2005

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Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

American journal of human genetics, 2010, Vol.86 (1), p.65-71

2010

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Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations

Ophthalmology (Rochester, Minn.), 2016-07, Vol.123 (7), p.1624-1626

2016

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Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

Genes, 2019-07, Vol.10 (7), p.529

2019

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Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation

Ophthalmology (Rochester, Minn.), 2014-02, Vol.121 (2), p.580-587

2014

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Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome

European journal of endocrinology, 2015-02, Vol.172 (2), p.217

2015

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Preferences for communication in clinic from deaf people: a cross-sectional study

Journal of evaluation in clinical practice, 2010-08, Vol.16 (4), p.811-817

2010

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Prevalence and architecture of de novo mutations in developmental disorders

Nature (London), 2017-02, Vol.542 (7642), p.433

Deciphering Developmental Disorders Study

2017

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De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure

Journal of the American Society of Nephrology, 2005-07, Vol.16 (7), p.2141-2149

2005

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The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

JCI insight, 2022-02, Vol.7 (3)

2022

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Congenital hearing loss

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

Genetic investigations in childhood deafness

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

Prevalence of Mitochondrial 1555A→G Mutation in European Children

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome

Preferences for communication in clinic from deaf people: a cross-sectional study

Prevalence and architecture of de novo mutations in developmental disorders

De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

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