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Annals of Neurology|August 21, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxiaKatherine L Helbig, Ulrike B S Hedrich, Deepali N Shinde, et al.
Oncotarget|May 15, 2018
TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndromePhillip N Gray, Pei Tsai, Daniel Chen, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyGabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
NPJ Precision Oncology|March 6, 2020
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genesTyler Landrith, Bing Li, Ashley A Cass, et al.
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