Publications
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.
. Reduced meiotic recombination in rhesus macaques and the origin of the human recombination landscape. PLoS One. 2020 ;15(8):e0236285.
. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018 ;50(4):559-571.
. Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 ;45(11):1319-26.
. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 ;376(1):21-31.
. On Robust Association Testing for Quantitative Traits and Rare Variants. G3 (Bethesda). 2016 ;6(12):3941-3950.
. SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission. Genome Res. 2021 ;31(4):635-644.
. Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. Science. 2020 ;370(6523).
. Sequence variation in DOCK9 and heterogeneity in bipolar disorder. Psychiatr Genet. 2007 ;17(5):274-86.
. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006 ;354(12):1264-72.
. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 ;590(7845):290-299.
. Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 2018 ;553(7686):77-81.
. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017 ;18(Suppl 6):691.
. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012 ;335(6070):823-8.
. Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol. 2020 ;38(4):433-438.
. Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Heart Rhythm. 2014 ;11(3):452-7.
. Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 ;5:8278.
. The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders. Sci Transl Med. 2018 ;10(472).
. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 ;102(5):985-994.
. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 ;43(3):189-96.
. Two novel simian arteriviruses in captive and wild baboons (Papio spp.). J Virol. 2014 ;88(22):13231-9.
. Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications. Mol Biol Evol. 2003 ;20(9):1463-79.
. The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. Front Endocrinol (Lausanne). 2022 ;13:863893.
. Variability of dopamine D4 receptor (DRD4) gene sequence within and among nonhuman primate species. Proc Natl Acad Sci U S A. 1995 ;92(2):427-31.
. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. Am J Hum Genet. 2020 ;107(5):932-941.
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