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Publications

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2015
The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism., Besse, Arnaud, Wu Ping, Bruni Francesco, Donti Taraka, Graham Brett H., Craigen William J., McFarland Robert, Moretti Paolo, Lalani Seema, Scott Kenneth L., et al. , Cell metabolism, 2015 Mar 3, Volume 21, Issue 3, p.417-27, (2015) Abstract
A Massive Expansion of Effector Genes Underlies Gall-Formation in the Wheat Pest Mayetiola destructor., Zhao, Chaoyang, Escalante Lucio Navarro, Chen Hang, Benatti Thiago R., Qu Jiaxin, Chellapilla Sanjay, Waterhouse Robert M., Wheeler David, Andersson Martin N., Bao Riyue, et al. , Current biology : CB, 2015 Mar 2, Volume 25, Issue 5, p.613-20, (2015) Abstract
Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism., Bayram, Yavuz, Gulsuner Suleyman, Guran Tulay, Abaci Ayhan, Yesil Gozde, Gulsuner Hilal Unal, Atay Zeynep, Pierce Sarah B., Gambin Tomasz, Lee Ming, et al. , The Journal of clinical endocrinology and metabolism, 2015 Mar 16, p.jc20151150, (2015) Abstract
Convergent evolution of the genomes of marine mammals., Foote, Andrew D., Liu Yue, Thomas Gregg W. C., Vinař Tomáš, Alföldi Jessica, Deng Jixin, Dugan Shannon, van Elk Cornelis E., Hunter Margaret E., Joshi Vandita, et al. , Nature genetics, 2015 Mar, Volume 47, Issue 3, p.272-5, (2015) Abstract
Genetic overlap between diagnostic subtypes of ischemic stroke., Holliday, Elizabeth G., Traylor Matthew, Malik Rainer, Bevan Steve, Falcone Guido, Hopewell Jemma C., Cheng Yu-Ching, Cotlarciuc Ioana, Bis Joshua C., Boerwinkle Eric, et al. , Stroke; a journal of cerebral circulation, 2015 Mar, Volume 46, Issue 3, p.615-9, (2015) Abstract
Genomic Signatures of Cooperation and Conflict in the Social Amoeba., Ostrowski, Elizabeth A., Shen Yufeng, Tian Xiangjun, Sucgang Richard, Jiang Huaiyang, Qu Jiaxin, Katoh-Kurasawa Mariko, Brock Debra A., Dinh Christopher, Lara-Garduno Fremiet, et al. , Current biology : CB, 2015 Jun 15, Volume 25, Issue 12, p.1661-5, (2015) Abstract
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities., Chong, Jessica X., Buckingham Kati J., Jhangiani Shalini N., Boehm Corinne, Sobreira Nara, Smith Joshua D., Harrell Tanya M., McMillin Margaret J., Wiszniewski Wojciech, Gambin Tomasz, et al. , American journal of human genetics, 2015 Jul 8, (2015) Abstract
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing., Ritter, Deborah I., Haines Katherine, Cheung Hannah, Davis Caleb F., Lau Ching C., Berg Jonathan S., Brown Chester W., Thompson Patrick A., Gibbs Richard, Wheeler David A., et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Jan 8, (2015) Abstract
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing., Ritter, Deborah I., Haines Katherine, Cheung Hannah, Davis Caleb F., Lau Ching C., Berg Jonathan S., Brown Chester W., Thompson Patrick A., Gibbs Richard, Wheeler David A., et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Jan 8, (2015) Abstract
Germline mutations in shelterin complex genes are associated with familial glioma., Bainbridge, Matthew N., Armstrong Georgina N., Gramatges Monica M., Bertuch Alison A., Jhangiani Shalini N., Doddapaneni Harsha, Lewis Lora, Tombrello Joseph, Tsavachidis Spyros, Liu Yanhong, et al. , Journal of the National Cancer Institute, 2015 Jan, Volume 107, Issue 1, (2015) Abstract
Germline mutations in shelterin complex genes are associated with familial glioma., Bainbridge, Matthew N., Armstrong Georgina N., Gramatges Monica M., Bertuch Alison A., Jhangiani Shalini N., Doddapaneni Harsha, Lewis Lora, Tombrello Joseph, Tsavachidis Spyros, Liu Yanhong, et al. , Journal of the National Cancer Institute, 2015 Jan, Volume 107, Issue 1, p.384, (2015) Abstract
Multi-Ethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI., Verhaaren, Benjamin F. J., Debette Stéphanie, Bis Joshua C., Smith Jennifer A., Ikram Kamran M., Adams Hieab H., Beecham Ashley H., Rajan Kumar B., Lopez Lorna M., Barral Sandra, et al. , Circulation. Cardiovascular genetics, 2015 Feb 7, (2015) Abstract
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction., Do, Ron, Stitziel Nathan O., Won Hong-Hee, Jørgensen Anders Berg, Duga Stefano, Angelica Merlini Pier, Kiezun Adam, Farrall Martin, Goel Anuj, Zuk Or, et al. , Nature, 2015 Feb 5, Volume 518, Issue 7537, p.102-6, (2015) Abstract
TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives., Chittani, Martina, Zaninello Roberta, Lanzani Chiara, Frau Francesca, Ortu Maria F., Salvi Erika, Fresu Giovanni, Citterio Lorena, Braga Daniele, Piras Daniela A., et al. , Journal of hypertension, 2015 Feb 18, (2015) Abstract
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949)., Davies, G., Armstrong N., Bis J. C., Bressler J., Chouraki V., Giddaluru S., Hofer E., Ibrahim-Verbaas C. A., Kirin M., Lahti J., et al. , Molecular psychiatry, 2015 Feb, Volume 20, Issue 2, p.183-92, (2015) Abstract
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes., Yuan, Bo, Pehlivan Davut, Karaca Ender, Patel Nisha, Charng Wu-Lin, Gambin Tomasz, Gonzaga-Jauregui Claudia, Sutton Reid V., Yesil Gozde, Bozdogan Sevcan Tug, et al. , The Journal of clinical investigation, 2015 Feb, Volume 125, Issue 2, p.636-51, (2015) Abstract
Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families., Shetty, Priya B., Tang Hua, Feng Tao, Tayo Bamidele, Morrison Alanna C., Kardia Sharon L. R., Hanis Craig L., Arnett Donna K., Hunt Steven C., Boerwinkle Eric, et al. , Circulation. Cardiovascular genetics, 2015 Feb, Volume 8, Issue 1, p.106-13, (2015) Abstract
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy., McMichael, G., Bainbridge M. N., Haan E., Corbett M., Gardner A., Thompson S., van Bon B. W. M., van Eyk C. L., Broadbent J., Reynolds C., et al. , Molecular psychiatry, 2015 Feb, Volume 20, Issue 2, p.176-82, (2015) Abstract
The genomes of two key bumblebee species with primitive eusocial organization., Sadd, Ben M., Barribeau Seth M., Bloch Guy, de Graaf Dirk C., Dearden Peter, Elsik Christine G., Gadau Jürgen, Grimmelikhuijzen Cornelis J. P., Hasselmann Martin, Lozier Jeffrey D., et al. , Genome biology, 2015 Apr 24, Volume 16, Issue 1, p.76, (2015) Abstract
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis., Watkin, Levi B., Jessen Birthe, Wiszniewski Wojciech, Vece Timothy J., Jan Max, Sha Youbao, Thamsen Maike, Santos-Cortez Regie L. P., Lee Kwanghyuk, Gambin Tomasz, et al. , Nature genetics, 2015 Apr 20, (2015) Abstract
A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study., Weng, Lu-Chen, Cushman Mary, Pankow James S., Basu Saonli, Boerwinkle Eric, Folsom Aaron R., and Tang Weihong , Human molecular genetics, 2015 Apr 15, Volume 24, Issue 8, p.2401-8, (2015) Abstract
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations., Huemer, Martina, Karall Daniela, Schossig Anna, Abdenur Jose E., Al Jasmi Fatma, Biagosch Caroline, Distelmaier Felix, Freisinger Peter, Graham Brett H., Haack Tobias B., et al. , Journal of inherited metabolic disease, 2015 Apr 14, (2015) Abstract
Generation and characterization of antibodies against Asian elephant (Elephas maximus) IgG, IgM, and IgA., Humphreys, Alan F., Tan Jie, Peng Rongsheng, Benton Susan M., Qin Xiang, Worley Kim C., Mikulski Rose L., Chow Dar-Chone, Palzkill Timothy G., and Ling Paul D. , PloS one, 2015, Volume 10, Issue 2, p.e0116318, (2015) Abstract
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility., Wessel, Jennifer, Chu Audrey Y., Willems Sara M., Wang Shuai, Yaghootkar Hanieh, Brody Jennifer A., Dauriz Marco, Hivert Marie-France, Raghavan Sridharan, Lipovich Leonard, et al. , Nature communications, 2015, Volume 6, p.5897, (2015) Abstract
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness., Kmoch, S., Majewski J., Ramamurthy V., Cao S., Fahiminiya S., Ren H., MacDonald I. M., Lopez I., Sun V., Keser V., et al. , Nature communications, 2015, Volume 6, p.5614, (2015) Abstract


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