Publications
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Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 ;73(1):68-75.
. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2018 ;97(1):49-59.
. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril. 2015 ;104(2):286-91.
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Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 ;100(1):E140-7.
. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A. 2011 ;155A(9):2071-7.
. Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI. JBMR Plus. 2018 ;2(4):235-239.
. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 ;32(12):1450-9.
. Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors. Pediatr Blood Cancer. 2016 ;63(3):511-5.
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Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. Nat Commun. 2022 ;13(1):7592.
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Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence. PLoS Negl Trop Dis. 2012 ;6(1):e1471.
. Whole genome sequence of Treponema pallidum ssp. pallidum, strain Mexico A, suggests recombination between yaws and syphilis strains. PLoS Negl Trop Dis. 2012 ;6(9):e1832.
. The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species. Genome Biol. 2016 ;17(1):192.
. Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 ;17(1):237.
. Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants. Nat Commun. 2020 ;11(1):5182.
. Whole genome sequence analysis of blood lipid levels in >66,000 individuals. Nat Commun. 2022 ;13(1):5995.
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Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program. Circ Genom Precis Med. 2023 ;16(2):e003532.
. Whole Genome Analysis of SNV and Indel Polymorphism in Common Marmosets (). Genes (Basel). 2023 ;14(12).
. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2020 ;25(8):1859-1875.
. Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 ;12(9):e1006284.
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