Publications
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 ;83(5):457-461.
. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 ;97(5):691-707.
. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 ;380(25):2478-2480.
. Syndromic congenital myelofibrosis associated with a loss-of-function variant in . Blood. 2018 ;132(6):658-662.
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