Alan H. Beggs · geneticist · YYNN

Alan H. Beggs

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geneticist

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Works
8

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

scientific article published on 10 December 2019

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

scientific article published on September 2016

Children's rare disease cohorts: an integrative research and clinical genomics initiative

scientific article published on 06 July 2020

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

scientific article published on 12 April 2019

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.

scientific article

The BabySeq project: implementing genomic sequencing in newborns

article by Ingrid A Holm et al published 9 July 2018 in BMC Pediatrics

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

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Occupation

university teacher

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