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Publications by William J. Astle

A Gain-Of-Function Variant in DIAPH1 Causes Dominant Macrothrombocytopenia and Hearing Loss

English

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Treatment of Hearing Gain in Failed Idiopathic Sudden Sensorineural Hearing Loss

Otolaryngology - Head and Neck Surgery

Otorhinolaryngology

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A Gain-Of-Function Mutation in theGRIK2gene Causes Neurodevelopmental Deficits

Neurology: Genetics

English

Histopathology of Nonsyndromic Autosomal Dominant Midfrequency Sensorineural Hearing Loss

Otology and Neurotology

Otorhinolaryngology

Sensory Systems

English

Gain-Of-Function Mutation in Gli3 Causes Ventricular Septal Defects

English

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

BioMed Research International

Molecular Biology

English

Loss of OATP1B3 Function Causes Rotor Syndrome

Cancer Biology and Therapy

Cancer Research

Molecular Medicine

English

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

American Journal of Human Genetics

English

A C-Terminal Nonsense Mutation Links PTPRQ With Autosomal-Dominant Hearing Loss, DFNA73

Genetics in Medicine

English

Loss of Osteoprotegerin Expression in the Inner Ear Causes Degeneration of the Cochlear Nerve and Sensorineural Hearing Loss

Neurobiology of Disease

English