Publications
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Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 2018 ;553(7686):77-81.
. Source identification in two criminal cases using phylogenetic analysis of HIV-1 DNA sequences. Proc Natl Acad Sci U S A. 2010 ;107(50):21242-7.
. Sources of variation in hair cortisol in wild and captive non-human primates. Zoology (Jena). 2016 ;119(2):119-125.
. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research. Neuron. 2018 ;97(3):488-493.
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015 ;24(6):1584-601.
. Spata7 is required for maintenance of the retinal connecting cilium. Sci Rep. 2022 ;12(1):5575.
. SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018 ;217(8):2851-2865.
. Specific P-selectin and P-selectin glycoprotein ligand-1 genotypes/haplotypes are associated with risk of incident CHD and ischemic stroke: the Atherosclerosis Risk in Communities (ARIC) study. Atherosclerosis. 2007 ;195(1):e76-82.
. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 ;78(2):303-14.
. Spontaneous hyperactivity in Ash1l mutant mice, a new model for Tourette syndrome. Mol Psychiatry. 2020 ;25(2):241-242.
. Spontaneous mutagenesis is elevated in protease-defective cells. Mol Microbiol. 2009 ;71(3):629-39.
. Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur () with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies. Comp Med. 2018 ;68(6):489-495.
. Squamous cell carcinoma of the oral tongue in young non-smokers is genomically similar to tumors in older smokers. Clin Cancer Res. 2014 ;20(14):3842-8.
. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 ;110(5):790-808.
. SSTR5 P335L monoclonal antibody differentiates pancreatic neuroendocrine neuroplasms with different SSTR5 genotypes. Surgery. 2011 ;150(6):1136-42.
. Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain. J Neurosci. 2006 ;26(30):7875-84.
. A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies. bioRxiv. 2023 ;.
. Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing. PLoS One. 2012 ;7(2):e31358.
. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 ;14(10B):2121-7.
. Stephen T. Warren: Human geneticist who advanced understanding of mutational mechanisms and developmental disorders. Proc Natl Acad Sci U S A. 2021 ;118(34).
. . Strategic transformation of population studies: recommendations of the working group on epidemiology and population sciences from the National Heart, Lung, and Blood Advisory Council and Board of External Experts. Am J Epidemiol. 2015 ;181(6):363-8.
. A strategy for building and using a human reference pangenome. F1000Res. 2019 ;8:1751.
. StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 ;7(1):1316.
. Stress, genomes, and evolution. Cell Stress Chaperones. 2010 ;15(5):463-6.
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