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List of works by Joel Krier

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

scientific article

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

scientific article published on 01 October 2019

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

scientific article published on 15 July 2020

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

scientific article published on 30 April 2020

Reclassification of genetic-based risk predictions as GWAS data accumulate

scientific article

Summarizing polygenic risks for complex diseases in a clinical whole-genome report

scientific article

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

scientific article

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

scientific article published on 03 September 2019

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