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Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017 ;173(10):2789-2794.
. Naturally Occurring and Experimentally Induced Rhesus Macaque Models for Polycystic Ovary Syndrome: Translational Gateways to Clinical Application. Med Sci (Basel). 2019 ;7(12).
. Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 ;188(2):648-657.
. Mapping and characterization of structural variation in 17,795 human genomes. Nature. 2020 ;583(7814):83-89.
. Further evidence for phenotypic signatures of hybridization in descendant baboon populations. J Hum Evol. 2014 ;76:54-62.
. Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane. Biochem Med Metab Biol. 1991 ;45(3):271-91.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. Biological characterization and next-generation genome sequencing of the unclassified Cotia virus SPAn232 (Poxviridae). J Virol. 2012 ;86(9):5039-54.
. A complete reference genome improves analysis of human genetic variation. Science. 2022 ;376(6588):eabl3533.
. Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. Genome Res. 2020 ;30(9):1258-1273.
. The association of lipoprotein(a) with incident heart failure hospitalization: Atherosclerosis Risk in Communities study. Atherosclerosis. 2017 ;262:131-137.
. Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. Circulation. 2019 ;140(8):645-657.
. Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida. Birth Defects Res A Clin Mol Teratol. 2013 ;97(9):597-601.
. REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Hum Mol Genet. 2017 ;26(14):2667-2677.
. Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science. 2011 ;333(6046):1154-7.
. Genome-wide association study of circulating interleukin 6 levels identifies novel loci. Hum Mol Genet. 2021 ;30(5):393-409.
. Glutathione peroxidase 2 is a metabolic driver of the tumor immune microenvironment and immune checkpoint inhibitor response. J Immunother Cancer. 2022 ;10(8).
. The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera. Nat Commun. 2014 ;5:4737.
. Novel Heterozygous Mutation in Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. Front Pediatr. 2019 ;7:303.
. Progress and prospects in rat genetics: a community view. Nat Genet. 2008 ;40(5):516-22.
. Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration. Cancer Discov. 2023 ;13(4):910-927.
. The Ensembl gene annotation system. Database (Oxford). 2016 ;2016.
. Identification of prognosis markers in pediatric high-risk acute lymphoblastic leukemia. Pediatr Hematol Oncol. 2005 ;22(7):629-43.
. Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007 ;4(11):903-5.
. Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclerosis Risk in Communities (ARIC) Study. Arterioscler Thromb Vasc Biol. 2002 ;22(2):348-52.
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