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Rare Diseases (Austin, Tex.)|July 9, 2014
A human de novo mutation in MYH10 phenocopies the loss of function mutation in miceLea Tuzovic, Lan Yu, Wenqi Zeng, et al.American Journal of Medical Genetics. Part A|April 8, 2015
ELP2 is a novel gene implicated in neurodevelopmental disabilitiesJulie S Cohen, Siddharth Srivastava, Kelly D Farwell, et al.BMC Medical Genetics|November 7, 2015
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalitiesCameron Mroske, Kristen Rasmussen, Deepali N Shinde, et al.JIMD Reports|March 26, 2014
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 GenesKelly D Farwell Gonzalez, Xiang Li, Hsiao-Mei Lu, et al.Plos One|February 3, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panelsHolly LaDuca, Kelly D Farwell, Huy Vuong, et al.Journal of Medical Genetics|August 9, 2019
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicityShuwei Li, Dajun Qian, Bryony A Thompson, et al.Scientific Reports|September 6, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classificationYuan Tian, Tina Pesaran, Adam Chamberlin, et al.Plos One|May 17, 2014
The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assayHansook Kim Chong, Tao Wang, Hsiao-Mei Lu, et al.Plos One|September 14, 2018
A Bayesian framework for efficient and accurate variant predictionDajun Qian, Shuwei Li, Yuan Tian, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2018
Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testingWenbo Mu, Bing Li, Sitao Wu, et al.Pageof 4