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

artículo científico publicado en 2022

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2021

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

artículo científico publicado en 2021

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