Selected Publications of Students of the Human Genetics Graduate Program

  • Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS; University of Washington Center for Mendelian Genomics Consortium, Nelson SF, Cohn DH, Vallee RB, Krakow D (2015). Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nature Communications 6:7092. [PubMed] [Journal]

  • Vergnes L (1), Lee JM (1), Chin RG, Auwerx J, Reue K (2013). Diet1 functions in the FGF15/19 enterohepatic signaling axis to modulate bile acid and lipid levels. Cell Metabolism 17(6):916-928. [PubMed] [Journal] (1) Equal contribution.

  • Orozco LD, Bennett BJ, Farber CR, Ghazalpour A, Pan C, Che N, Wen P, Qi HX, Mutukulu A, Siemers N, Neuhaus I, Yordanova R, Gargalovic P, Pellegrini M, Kirchgessner T, Lusis AJ (2012). Unraveling inflammatory responses using systems genetics and gene-environment interactions in macrophages. Cell 151(3):658-670. [PubMed] [Journal]

  • Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E (2012). Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nature Genetics 44(7):788-792. [PubMed] [Journal]

  • He H, Xu J, Warren CM, Duan D, Li X, Wu L, Iruela-Arispe ML (2012). Endothelial cells provide an instructive niche for the differentiation and functional polarization of M2-like macrophages. Blood 120(15):3152-3162. [PubMed] [Journal]

  • Weissglas-Volkov D, Calkin AC, Tusie-Luna T, Sinsheimer JS, Zelcer N, Riba L, Tino AM, Ordoñez-Sánchez ML, Cruz-Bautista I, Aguilar-Salinas CA, Tontonoz P, Pajukanta P (2011). The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans. Journal of Clinical Investigation 121(8):3062-3071. [PubMed] [Journal]

  • Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF (2010). U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line. PLoS Genetics 6(1):e1000832. [PubMed] [Journal]

  • Romanoski CE, Lee S, Kim MJ, Ingram-Drake L, Plaisier CL, Yordanova R, Tilford C, Guan B, He A, Gargalovic PS, Kirchgessner TG, Berliner JA, Lusis AJ (2010). Systems genetics analysis of gene-by-environment interactions in human cells. American Journal of Human Genetics 86(3):399-410. [PubMed] [Journal]

  • Strom SP, Stone JL, Ten Bosch JR, Merriman B, Cantor RM, Geschwind DH, Nelson SF (2010). High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. Molecular Psychiatry 15(10):996-1005. [PubMed] [Journal]

  • Plaisier CL, Horvath S, Huertas-Vazquez A, Cruz-Bautista I, Herrera MF, Tusie-Luna T, Aguilar-Salinas C, Pajukanta P (2009). A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia. PLoS Genetics 5(9):e1000642. [PubMed] [Journal]

  • Shen Y, Matsuno Y, Fouse SD, Rao N, Root S, Xu R, Pellegrini M, Riggs AD, Fan G (2008). X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations. Proceedings of the National Academy of Sciences of the United States of America 105(12):4709-4714. [PubMed] [Journal]

  • Lee JC, Weissglas-Volkov D, Kyttälä M, Dastani Z, Cantor RM, Sobel EM, Plaisier CL, Engert JC, van Greevenbroek MM, Kane JP, Malloy MJ, Pullinger CR, Huertas-Vazquez A, Aguilar-Salinas CA, Tusie-Luna T, de Bruin TW, Aouizerat BE, van der Kallen CC, Croce CM, Aqeilan RI, Marcil M, Viikari JS, Lehtimäki T, Raitakari OT, Kuusisto J, Laakso M, Taskinen MR, Genest J, Pajukanta P (2008). WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels. American Journal of Human Genetics 83(2):180-192. [PubMed] [Journal]

  • Fouse SD, Shen Y, Pellegrini M, Cole S, Meissner A, Van Neste L, Jaenisch R, Fan G (2008). Promoter CpG methylation contributes to ES cell gene regulation in parallel with Oct4/Nanog, PcG complex, and histone H3 K4/K27 trimethylation. Cell Stem Cell 2(2):160-169. [PubMed] [Journal]

  • Kuraishy AI, French SW, Sherman M, Herling M, Jones D, Wall R, Teitell MA (2007). TORC2 regulates germinal center repression of the TCL1 oncoprotein to promote B cell development and inhibit transformation. Proceedings of the National Academy of Sciences of the United States of America 104(24):10175-10180. [PubMed] [Journal]

  • Chen GK, Slaten E, Ophoff RA, Lange K (2006). Accommodating chromosome inversions in linkage analysis. American Journal of Human Genetics 79(2):238-251. [PubMed] [Journal]

  • Phan J, Reue K (2005). Lipin, a lipodystrophy and obesity gene. Cell Metabolism 1(1):73-83. [PubMed] [Journal]

  • Doss S, Schadt EE, Drake TA, Lusis AJ (2005). Cis-acting expression quantitative trait loci in mice. Genome Research 15(5):681-691. [PubMed] [Journal]

  • Kustanovich V, Ishii J, Crawford L, Yang M, McGough JJ, McCracken JT, Smalley SL, Nelson SF (2004). Transmission disequilibrium testing of dopamine-related candidate gene polymorphisms in ADHD: confirmation of association of ADHD with DRD4 and DRD5. Molecular Psychiatry 9(7):711-717. [PubMed] [Journal]

  • Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF (2004). Evidence for sex-specific risk alleles in autism spectrum disorder. American Journal of Human Genetics 75(6):1117-1123. [PubMed] [Journal]

  • Nazarian R, Falcón-Pérez JM, Dell'Angelica EC (2003). Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proceedings of the National Academy of Sciences of the United States of America 100(15):8770-8775. [PubMed] [Journal]

  • Jordan BK, Shen JH, Olaso R, Ingraham HA, Vilain E (2003). Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/ß-catenin synergy. Proceedings of the National Academy of Sciences of the United States of America 100(19):10866-10871. [PubMed] [Journal]