Publications
Filters: Keyword is Animals [Clear All Filters]
Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross. Mamm Genome. 2009 ;20(4):224-35.
. Regulation of Drosophila eye development by the transcription factor Sine oculis. PLoS One. 2014 ;9(2):e89695.
. REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Hum Mol Genet. 2017 ;26(14):2667-2677.
. Reduced meiotic recombination in rhesus macaques and the origin of the human recombination landscape. PLoS One. 2020 ;15(8):e0236285.
. Recurrent duplication-driven transposition of DNA during hominoid evolution. Proc Natl Acad Sci U S A. 2006 ;103(47):17626-31.
. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 ;99(4):831-845.
. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 ;94(5):745-54.
. Rats in the genomic era. Physiol Genomics. 2008 ;32(3):273-82.
. Rare Variant in Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circ Genom Precis Med. 2024 ;17(4):e004614.
. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest. 2009 ;119(1):70-9.
. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 ;12(10):e1006327.
. Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing. Genome Res. 2010 ;20(7):981-8.
. Rapid evolution of mitochondrion-related genes in haplodiploid arthropods. BMC Biol. 2024 ;22(1):229.
. Quantitative trait loci for peripheral blood cell counts: a study in baboons. Mamm Genome. 2007 ;18(5):361-72.
. Quantitative trait loci affecting liver fat content in mice. G3 (Bethesda). 2012 ;2(9):1019-25.
. Quantitative monitoring of adenocarcinoma development in rodents by magnetic resonance imaging. Clin Cancer Res. 2008 ;14(5):1363-7.
. Quantitative loci regulating plasma levels of gamma glutamyl transferase and albumin and their genetic correlations with cardiovascular risk factors. Exp Biol Med (Maywood). 2009 ;234(12):vi, 1519-24.
. . Punctuated duplication seeding events during the evolution of human chromosome 2p11. Genome Res. 2005 ;15(7):914-27.
. Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008 ;205(12):2711-6.
. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 ;111(7):1352-1369.
. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nat Genet. 2019 ;51(3):452-469.
. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet. 2018 ;50(1):26-41.
. A proposal to sequence the amphioxus genome submitted to the Joint Genome Institute of the US Department of Energy. J Exp Zool B Mol Dev Evol. 2003 ;300(1):5-22.
. .