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BMC Genomics|December 18, 2014
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yieldJuan Geng, Jonathan Picker, Zhaojing Zheng, et al.
Human Molecular Genetics|August 8, 2018
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomesBrittany N Whitley, Christina Lam, Hong Cui, et al.
American Journal of Medical Genetics. Part A|June 11, 2016
BRAT1 mutations present with a spectrum of clinical severitySiddharth Srivastava, Heather E Olson, Julie S Cohen, et al.
Pediatrics|November 7, 2012
Newborn, carrier, and early childhood screening recommendations for fragile XLiane Abrams, Amy Cronister, William T Brown, et al.
The New England Journal of Medicine|December 11, 2012
Clinical diagnosis by whole-genome sequencing of a prenatal sampleMichael E Talkowski, Zehra Ordulu, Vamsee Pillalamarri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2008
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypesZhishuo Ou, Jonathan S Berg, Hagith Yonath, et al.
Annals of Neurology|April 3, 2019
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanismAndrew B Stergachis, Jonai Pujol-Giménez, Gergely Gyimesi, et al.
Human Genetics|April 7, 2016
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic featuresVolkan Okur, Megan T Cho, Lindsay Henderson, et al.
Human Molecular Genetics|January 12, 2021
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphsRoy Jung, Yejin Lee, Douglas Barker, et al.
American Journal of Medical Genetics. Part A|February 19, 2016
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reportsCatherine A Brownstein, Robin J Kleiman, Elizabeth C Engle, et al.
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