Published in N Engl J Med on October 02, 2013
Genomic Sequencing for Childhood Risk and Newborn Illness | NCT02422511
Clinical Utility of Prenatal Whole Exome Sequencing (Prenatal WES) | NCT03482141
Clinical Utility of Pediatric Whole Exome Sequencing | NCT03525431
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Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. J Neuromuscul Dis (2015) 0.98
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Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression. J Am Soc Nephrol (2014) 0.96
Translational research is a key to nongeneticist physicians' genomics education. Genet Med (2014) 0.95
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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet (2014) 0.94
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LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias. J Lipid Res (2014) 0.93
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Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med (2013) 22.73
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
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