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Congenital hearing loss

Nature reviews. Disease primers, 2017-01, Vol.3 (1), p.16094-16094, Article 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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Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing

Otolaryngology-head and neck surgery, 2024-06

2024

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

Nature genetics, 2011-03, Vol.43 (3), p.197-203

2011

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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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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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Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder

Journal of inherited metabolic disease, 2008-04, Vol.31 (2), p.151-163

2008

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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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Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts

BMC medical genetics, 2013-08, Vol.14 (1), p.85-85, Article 85

2013

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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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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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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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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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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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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

Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing

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

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

Prevalence of Mitochondrial 1555A→G Mutation in European Children

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

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts

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

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

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

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

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

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