Publications
Reduced meiotic recombination in rhesus macaques and the origin of the human recombination landscape. PLoS One. 2020 ;15(8):e0236285.
. The repertoire of mutational signatures in human cancer. Nature. 2020 ;578(7793):94-101.
. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nat Commun. 2020 ;11(1):4748.
. A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 ;38(11):1347-1355.
. Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels. Circ Genom Precis Med. 2020 ;13(4):e002772.
. RaGOO: fast and accurate reference-guided scaffolding of draft genomes. Genome Biol. 2019 ;20(1):224.
. Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. Sci Rep. 2019 ;9(1):5941.
. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 ;380(25):2478-2480.
. Reply. Ophthalmology. 2019 ;126(7):e51-e52.
. Reproducibility and Variability of Protein Analytes Measured Using a Multiplexed Modified Aptamer Assay. J Appl Lab Med. 2019 ;4(1):30-39.
. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 ;179(7):1376-1382.
. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018 ;50(4):559-571.
. Reproductive Longevity Predicts Mutation Rates in Primates. Curr Biol. 2018 ;28(19):3193-3197.e5.
. The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results. Mayo Clin Proc. 2018 ;93(11):1600-1610.
. Rho Guanine Nucleotide Exchange Factor Is a Risk Gene for Intracranial Aneurysms. Circ Genom Precis Med. 2018 ;11(7):e002099.
. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 ;27(12):2064-2075.
. Rare and low-frequency coding variants alter human adult height. Nature. 2017 ;542(7640):186-190.
. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 ;49(9):1373-1384.
. Recommended Guidelines for Validation, Quality Control, and Reporting of Variants in Clinical Practice. Cancer Res. 2017 ;77(6):1250-1260.
. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 ;100(2):343-351.
. REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Hum Mol Genet. 2017 ;26(14):2667-2677.
. Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatr Blood Cancer. 2017 ;64(5).
. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 ;376(1):21-31.
. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 ;101(1):149-156.
. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016 ;9(1):64-70.
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