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Author Correction: Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades

scientific article published on 09 July 2020

AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants

scientific article published on 22 May 2020

Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss

artículo científico publicado en 2022

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

artículo científico publicado en 2022

Concurrent hearing and genetic screening in a general newborn population

scientific article published on 30 January 2020

Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.

artículo científico publicado en 2019

Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

scientific article published on 20 March 2019

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

article

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades

artículo científico publicado en 2020

Transcriptional regulatory framework for vascular cambium development in Arabidopsis roots

scientific article published on 08 October 2019

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

artículo científico publicado en 2021

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