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Publications by Sarah E. Hemphill

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

English

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High-Throughput PRPF31 Variant Characterisation Pipeline Consistent With ACMG/AMP Clinical Variant Interpretation Guidelines

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Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework

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Genetic Basis of Hearing Loss

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Guidelines on the Diagnosis of Noise-Induced Hearing Loss for Medicolegal Purposes

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Genetic and Pharmacological Intervention for Treatment/Prevention of Hearing Loss

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An Expert Assistant for Hardware Systems Specification

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

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Clinical and Genetic Features of Hearing Loss in Facioscapulohumeral Muscular Dystrophy

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