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Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.American Journal of Medical Genetics. Part A|June 15, 2011
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeMark C Hannibal, Kati J Buckingham, Sarah B Ng, et al.Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.Journal of Medical Genetics|July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyIris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.Nature Genetics|August 16, 2011
A copy number variation morbidity map of developmental delayGregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.Nature Genetics|January 15, 2008
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humansSekar Kathiresan, Olle Melander, Candace Guiducci, et al.Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.Cold Spring Harbor Molecular Case Studies|December 15, 2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory allelesJ Nicholas Cochran, Emily C McKinley, Meagan Cochran, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
A state-based approach to genomics for rare disease and population screeningKelly M East, Whitley V Kelley, Ashley Cannon, et al.Science (New York, N.Y.)|September 22, 2012
Specifying and sustaining pigmentation patterns in domestic and wild catsChristopher B Kaelin, Xiao Xu, Lewis Z Hong, et al.Pageof 38