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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2012
Diagnostic approaches to apparent homozygosityMegan L Landsverk, Ganka V Douglas, Sha Tang, et al.Journal of Human Genetics|October 21, 2011
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysisGanka V Douglas, Joanna Wiszniewska, Mark H Lipson, et al.Human Genetics|August 3, 2016
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humansMajid Alfadhel, Marwan Nashabat, Hanan Al Qahtani, et al.American Journal of Medical Genetics. Part A|September 24, 2017
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignanciesWei Shen, Jennifer M Heeley, Colleen M Carlston, et al.American Journal of Human Genetics|September 27, 2016
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyElisabetta Flex, Marcello Niceta, Serena Cecchetti, et al.Pediatric Neurology|November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability SyndromeJacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.Pageof 1