Publications
Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 ;108(7):1239-1250.
. Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 ;113(7):875-883.
. missense mutations in Xia-Gibbs syndrome. HGG Adv. 2021 ;2(4).
. . Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 ;41(12):2094-2104.
. Sjögren Syndrome without Focal Lymphocytic Infiltration of the Salivary Glands. J Rheumatol. 2020 ;47(3):394-399.
. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 ;105(5):974-986.
. A Genocentric Approach to Discovery of Mendelian Disorders. The American Journal of Human Genetics [Internet]. 2019 ;. https://www.cell.com/ajhg/fulltext/S0002-9297(19)30388-X
. Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression. Nat Commun. 2019 ;10(1):1054.
.