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Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness

PloS one, 2013-02, Vol.8 (2), p.e56520-e56520

2013

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Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

Proceedings of the National Academy of Sciences - PNAS, 2010-07, Vol.107 (30), p.13396-13401

2010

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Superior Canal Dehiscence Syndrome Affecting 3 Families

JAMA otolaryngology-- head & neck surgery, 2017-07, Vol.143 (7), p.656

2017

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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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Novel DICER1 mutation as cause of multinodular goiter in children

Head & neck, 2013-12, Vol.35 (12), p.E369-E371

2013

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Clinical characterization of novel chromosome 22q13 microdeletions

International journal of pediatric otorhinolaryngology, 2017-04, Vol.95, p.121-126

2017

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Validity, discriminative ability, and reliability of the hearing-related quality of life questionnaire for adolescents

The Laryngoscope, 2014-02, Vol.124 (2), p.570-578

2014

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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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Hairy polyp of the pharynx obscured on physical examination by endotracheal tube, but diagnosed on brain imaging

Pediatric radiology, 2005-11, Vol.35 (11), p.1107-1109

2005

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Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis

Otology & neurotology, 2009-12, Vol.30 (8), p.1204-1208

2009

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Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin

American journal of human genetics, 2002-09, Vol.71 (3), p.618-624

2002

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A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.396-402

2009

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Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene

Archives of otolaryngology--head & neck surgery, 2011-01, Vol.137 (1), p.54

2011

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Ossifying Lipoma of C1-C2 in an Adolescent

Journal of pediatric orthopaedics, 2011-07, Vol.31 (5), p.e53-e56

2011

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Congenital cataracts in two siblings with Wolfram Syndrome

Ophthalmic genetics, 2010-12, Vol.31 (4), p.227-229

2010

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DFNA25, a Novel Locus for Dominant Nonsyndromic Hereditary Hearing Impairment, Maps to 12q21-24

American journal of human genetics, 2001-01, Vol.68 (1), p.254-260

2001

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Squamous cell carcinoma arising in inverted papilloma

The Laryngoscope, 1995-02, Vol.105 (2), p.178-183

1995

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Pediatric myofibromatosis of the head and neck

Archives of otolaryngology--head & neck surgery, 1999-01, Vol.125 (1), p.39

1999

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A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

Human molecular genetics, 1995-10, Vol.4 (10), p.1967-1972

1995

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A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus

Journal of medical genetics, 1999-07, Vol.36 (7), p.532-536

1999

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Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

Human molecular genetics, 2001-10, Vol.10 (22), p.2501-2508

2001

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A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21

Journal of medical genetics, 2004-11, Vol.41 (11), p.872-876

2004

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Otologic manifestations of Wolf-Hirschhorn syndrome

Archives of otolaryngology--head & neck surgery, 1998-02, Vol.124 (2), p.193

1998

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The relationship between acute mastoiditis and antibiotic use for acute otitis media in children--invited commentary

Archives of otolaryngology--head & neck surgery, 2008-01, Vol.134 (1), p.49

Lesperance, Marci M

2008

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Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss

Archives of otolaryngology--head & neck surgery, 2003-04, Vol.129 (4), p.411

2003

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Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

Superior Canal Dehiscence Syndrome Affecting 3 Families

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

Novel DICER1 mutation as cause of multinodular goiter in children

Clinical characterization of novel chromosome 22q13 microdeletions

Validity, discriminative ability, and reliability of the hearing-related quality of life questionnaire for adolescents

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

Hairy polyp of the pharynx obscured on physical examination by endotracheal tube, but diagnosed on brain imaging

Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis

Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene

Ossifying Lipoma of C1-C2 in an Adolescent

Congenital cataracts in two siblings with Wolfram Syndrome

DFNA25, a Novel Locus for Dominant Nonsyndromic Hereditary Hearing Impairment, Maps to 12q21-24

Squamous cell carcinoma arising in inverted papilloma

Pediatric myofibromatosis of the head and neck

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21

Otologic manifestations of Wolf-Hirschhorn syndrome

The relationship between acute mastoiditis and antibiotic use for acute otitis media in children--invited commentary

Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss

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