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Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2013
Implementing genomic medicine in the clinic: the future is hereTeri A Manolio, Rex L Chisholm, Brad Ozenberger, et al.Journal of Pediatric Genetics|May 13, 2017
Successful Application of Whole Genome Sequencing in a Medical Genetics ClinicDavid Bick, Pamela C Fraser, Michael F Gutzeit, et al.Human Molecular Genetics|May 5, 2018
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorderNing Liu, Kelly Schoch, Xi Luo, et al.Cell|August 14, 2018
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical SignaturesJoo Sang Lee, Lital Adler, Hiren Karathia, et al.American Journal of Human Genetics|October 1, 2019
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill InfantsStephen F Kingsmore, Julie A Cakici, Michelle M Clark, et al.Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.Human Molecular Genetics|June 2, 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesLina Liang, Xia Li, Sébastien Moutton, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 1, 2026
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn SequencingLilian Downie, Julie Yeo, Thomas Minten, et al.Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.Pageof 13