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A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records

PLoS genetics, 2016-10, Vol.12 (10), p.e1006371-e1006371

2016

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Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function

Nature genetics, 2002-03, Vol.30 (3), p.277-284

2002

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The role of the dopamine transporter (DAT) in the development of PTSD in preschool children

Journal of traumatic stress, 2009-12, Vol.22 (6), p.534-539

2009

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Multi-site diagnosis and management of 260 patients with Auditory Neuropathy/Dys-synchrony (Auditory Neuropathy Spectrum Disorder)

International journal of audiology, 2010, Vol.49 (1), p.30-43

2010

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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Nature genetics, 2000-09, Vol.26 (1), p.51-55

2000

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HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31

American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.976-985

2011

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Newton E. Morton (1929–2018)

American journal of human genetics, 2018-06, Vol.102 (6), p.1011-1017

2018

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Recollections from 60 ASHG Meetings

American journal of human genetics, 2010-11, Vol.87 (5), p.580-592

2010

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Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function

Disease models & mechanisms, 2011-11, Vol.4 (6), p.786-800

2011

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Modification of depression by COMT valmet polymorphism in children exposed to early severe psychosocial deprivation

Child abuse & neglect, 2010-06, Vol.34 (6), p.387-395

2010

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Deafness and retinal degeneration in a novel USH1C knock‐in mouse model

Developmental neurobiology (Hoboken, N.J.), 2010-03, Vol.70 (4), p.253-267

2010

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Modification of Depression by COMT val[superscript 158]Met Polymorphism in Children Exposed to Early Severe Psychosocial Deprivation

Child abuse & neglect, 2010-06, Vol.34 (6), p.387

2010

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Genetic heterogeneity in Usher syndrome

American journal of medical genetics, 2004-09, Vol.130A (1), p.13-16

2004

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Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Annals of neurology, 1997-05, Vol.41 (5), p.675-682

1997

Volltextzugriff (PDF)

Chronic and Recurrent Otitis Media: A Genome Scan for Susceptibility Loci

American journal of human genetics, 2004-12, Vol.75 (6), p.988-997

2004

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Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

Nucleic acids research, 2004-01, Vol.32 (19), p.5962

2004

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Modification of depression by COMT val158met polymorphism in children exposed to early severe psychosocial deprivation

Child abuse & neglect, 2010-06, Vol.34 (6), p.387-395

2010

Volltextzugriff (PDF)

Genes and syndromic hearing loss

Journal of communication disorders, 2002-07, Vol.35 (4), p.355-366

Keats, Bronya J.B

2002

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A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells

Journal of the Association for Research in Otolaryngology, 2004-12, Vol.5 (4), p.411-426

2004

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Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf

American journal of medical genetics. Part A, 2005-11, Vol.139A (1), p.13-18

2005

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A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome

Neuromuscular disorders : NMD, 2003-05, Vol.13 (4), p.334-340

2003

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Genetic variation of recent Alu insertions in human populations

Journal of molecular evolution, 1996-01, Vol.42 (1), p.22-29

1996

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Outline of a medical genetics curriculum for internal medicine residency training programs

Genetics in medicine, 2004-11, Vol.6 (6), p.543-547

2004

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Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene

Genomics (San Diego, Calif.), 2004-03, Vol.83 (3), p.439-444

2004

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The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population

Human genetics, 2002-01, Vol.110 (1), p.95-97

2002

Volltextzugriff (PDF)

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A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records

Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function

The role of the dopamine transporter (DAT) in the development of PTSD in preschool children

Multi-site diagnosis and management of 260 patients with Auditory Neuropathy/Dys-synchrony (Auditory Neuropathy Spectrum Disorder)

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31

Newton E. Morton (1929–2018)

Recollections from 60 ASHG Meetings

Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function

Modification of depression by COMT valmet polymorphism in children exposed to early severe psychosocial deprivation

Deafness and retinal degeneration in a novel USH1C knock‐in mouse model

Modification of Depression by COMT val[superscript 158]Met Polymorphism in Children Exposed to Early Severe Psychosocial Deprivation

Genetic heterogeneity in Usher syndrome

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Chronic and Recurrent Otitis Media: A Genome Scan for Susceptibility Loci

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

Modification of depression by COMT val158met polymorphism in children exposed to early severe psychosocial deprivation

Genes and syndromic hearing loss

A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells

Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf

A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome

Genetic variation of recent Alu insertions in human populations

Outline of a medical genetics curriculum for internal medicine residency training programs

Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene

The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population

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