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List of works by Ahmad N Abou Tayoun

Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

scientific article published in 2022

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

scientific article published on 04 June 2019

Considerations for whole exome sequencing unique to prenatal care

scientific article published on 07 November 2019

Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing

scientific article published on 08 January 2020

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

scientific article published in 2021

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

scientific article published on 01 November 2018

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets

scientific article published on 24 June 2019

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

scientific article

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

scientific article published on 27 March 2017

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

scientific article published on 07 September 2018

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

scientific article

Utility of droplet digital PCR and NGS-based CNV clinical assays in hearing loss diagnostics: current status and future prospects

scientific article published in 2021

VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss

scientific article published in 2021

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