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NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, 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.
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.
The Journal of Allergy and Clinical Immunology|March 27, 2021
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndromeYin-Huai Chen, Diane B Zastrow, Riley D Metcalfe, et al.
The New England Journal of Medicine|July 29, 2011
A mosaic activating mutation in AKT1 associated with the Proteus syndromeMarjorie J Lindhurst, Julie C Sapp, Jamie K Teer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Nature Communications|October 5, 2018
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorderMarisa W Friederich, Sharita Timal, Christopher A Powell, et al.
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