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Publications

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2015
Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction., Bainbridge, Matthew N., Davis Erica E., Choi Wen-Yee, Dickson Amy, Martinez Hugo R., Wang Min, Dinh Huyen, Muzny Donna, Pignatelli Ricardo, Katsanis Nicholas, et al. , Circulation. Cardiovascular genetics, 2015 May 29, (2015) Abstract
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
Human adipose tissue as a reservoir for memory CD4+ T cells and HIV., Couturier, Jacob, Suliburk James W., Brown Jeremy M., Luke David J., Agarwal Neeti, Yu Xiaoying, Nguyen Chi, Iyer Dinakar, Kozinetz Claudia A., Overbeek Paul A., et al. , AIDS (London, England), 2015 Mar 27, Volume 29, Issue 6, p.667-74, (2015) Abstract
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome., White, Janson, Mazzeu Juliana F., Hoischen Alexander, Jhangiani Shalini N., Gambin Tomasz, Alcino Michele Calijorne, Penney Samantha, Saraiva Jorge M., Hove Hanne, Skovby Flemming, et al. , American journal of human genetics, 2015 Mar 25, (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
Recurrent BCAM-AKT2 fusion gene leads to a constitutively activated AKT2 fusion kinase in high-grade serous ovarian carcinoma., Kannan, Kalpana, Coarfa Cristian, Chao Pei-Wen, Luo Liming, Wang Yan, Brinegar Amy E., Hawkins Shannon M., Milosavljevic Aleksandar, Matzuk Martin M., and Yen Laising , Proceedings of the National Academy of Sciences of the United States of America, 2015 Mar 17, Volume 112, Issue 11, p.E1272-7, (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
FOXO1 is Required for Binding of PR on IRF4, Novel Transcriptional Regulator of Endometrial Stromal Decidualization., Vasquez, Yasmin M., Mazur Erik C., Li Xilong, Kommagani Ramakrishna, Jiang Lichun, Chen Rui, Lanz Rainer B., Kovanci Ertug, Gibbons William E., and DeMayo Francesco J. , Molecular endocrinology (Baltimore, Md.), 2015 Mar, Volume 29, Issue 3, p.421-33, (2015) Abstract
Genetic influences on response to novel objects and dimensions of personality in papio baboons., Johnson, Zachary, Brent Linda, Alvarenga Juan Carlos, Comuzzie Anthony G., Shelledy Wendy, Ramirez Stephanie, Cox Laura, Mahaney Michael C., Huang Yung-Yu, Mann John J., et al. , Behavior genetics, 2015 Mar, Volume 45, Issue 2, p.215-27, (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
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine Levels and Incident Coronary Heart Disease., Yu, Bing, Li Alexander H., Muzny Donna, Veeraraghavan Narayanan, de Vries Paul S., Bis Joshua C., Musani Solomon K., Alexander Danny, Morrison Alanna C., Franco Oscar H., et al. , Circulation. Cardiovascular genetics, 2015 Jan 8, (2015) Abstract
Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation., Mayle, Allison, Yang Liubin, Rodriguez Benjamin, Zhou Ting, Chang Edmund, Curry Choladda V., Challen Grant A., Li Wei, Wheeler David, Rebel Vivienne I., et al. , Blood, 2015 Jan 22, Volume 125, Issue 4, p.629-38, (2015) Abstract
The amyloidogenic V122I transthyretin variant in elderly black Americans., Quarta, Cristina C., Buxbaum Joel N., Shah Amil M., Falk Rodney H., Claggett Brian, Kitzman Dalane W., Mosley Thomas H., Butler Kenneth R., Boerwinkle Eric, and Solomon Scott D. , The New England journal of medicine, 2015 Jan 1, Volume 372, Issue 1, p.21-9, (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
Initial testing (stage 1) of the PARP inhibitor BMN 673 by the pediatric preclinical testing program: PALB2 mutation predicts exceptional in vivo response to BMN 673., Smith, Malcolm A., Hampton Oliver A., Reynolds Patrick C., Kang Min H., Maris John M., Gorlick Richard, Kolb Anders E., Lock Richard, Carol Hernan, Keir Stephen T., et al. , Pediatric blood & cancer, 2015 Jan, Volume 62, Issue 1, p.91-8, (2015) Abstract
Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors., Walz, Amy L., Ooms Ariadne, Gadd Samantha, Gerhard Daniela S., Smith Malcolm A., Guidry Auvil Jamie M., Meerzaman Daoud, Chen Qing-Rong, Hsu Chih Hao, Yan Chunhua, et al. , Cancer cell, 2015 Feb 9, Volume 27, Issue 2, p.286-97, (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
The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes., Challis, Danny, Antunes Lilian, Garrison Erik, Banks Eric, Evani Uday S., Muzny Donna, Poplin Ryan, Gibbs Richard A., Marth Gabor, and Yu Fuli , BMC genomics, 2015 Feb 28, Volume 16, Issue 1, p.143, (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
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy., Collison, Frederick T., Xie Yajing Angela, Gambin Tomasz, Jhangiani Shalini, Muzny Donna, Gibbs Richard, Lupski James R., Fishman Gerald A., and Allikmets Rando , Ophthalmic genetics, 2015 Feb 17, p.1-6, (2015) Abstract


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