Publications
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Filters: Keyword is Exons and Author is Boerwinkle, Eric [Clear All Filters]
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 ;21(9):2135-2144.
. Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels. J Med Genet. 2016 ;53(7):441-9.
. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 ;98(2):347-57.
. Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 ;17(1):237.
. Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida. Birth Defects Res A Clin Mol Teratol. 2013 ;97(9):597-601.
. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 ;485(7397):242-5.
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