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Publications

Journal Article
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
Loss of growth factor dependence and conversion of transforming growth factor-beta 1 inhibition to stimulation in metastatic H-ras-transformed murine fibroblasts., Schwarz, L. C., Gingras M. C., Goldberg G., Greenberg A. H., and Wright J. A. , Cancer research, 1988 Dec 15, Volume 48, Issue 24 Pt 1, p.6999-7003, (1988) Abstract
Loss of Rho GDIα and resistance to tamoxifen via effects on estrogen receptor α., Barone, Ines, Brusco Lauren, Gu Guowei, Selever Jennifer, Beyer Amanda, Covington Kyle R., Tsimelzon Anna, Wang Tao, Hilsenbeck Susan G., Chamness Gary C., et al. , Journal of the National Cancer Institute, 2011 Apr 6, Volume 103, Issue 7, p.538-52, (2011) Abstract
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm., Lindsay, Mark E., Schepers Dorien, Bolar Nikhita Ajit, Doyle Jefferson J., Gallo Elena, Fert-Bober Justyna, Kempers Marlies J. E., Fishman Elliot K., Chen Yichun, Myers Loretha, et al. , Nature genetics, 2012 Aug, Volume 44, Issue 8, p.922-7, (2012) Abstract
Low frequency of MLL3 mutations in colorectal carcinoma., Vakoc, Christopher R., Wen Yu-Ye, Gibbs Richard A., Johnstone Cameron N., Rustgi Anil K., and Blobel Gerd A. , Cancer genetics and cytogenetics, 2009 Mar, Volume 189, Issue 2, p.140-1, (2009)
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
LPL polymorphism predicts stroke risk in men., Morrison, Alanna C., Ballantyne Christie M., Bray Molly, Chambless Lloyd E., Sharrett Richey A., and Boerwinkle Eric , Genetic epidemiology, 2002 Mar, Volume 22, Issue 3, p.233-42, (2002) Abstract
Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventions., Anstead, Clare A., Korhonen Pasi K., Young Neil D., Hall Ross S., Jex Aaron R., Murali Shwetha C., Hughes Daniel S. T., Lee Siu F., Perry Trent, Stroehlein Andreas J., et al. , Nature communications, 2015, Volume 6, p.7344, (2015) Abstract
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes., Skaletsky, Helen, Kuroda-Kawaguchi Tomoko, Minx Patrick J., Cordum Holland S., Hillier Ladeana, Brown Laura G., Repping Sjoerd, Pyntikova Tatyana, Ali Johar, Bieri Tamberlyn, et al. , Nature, 2003 Jun 19, Volume 423, Issue 6942, p.825-37, (2003) Abstract
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators, Bellott, Daniel W., Hughes Jennifer F., Skaletsky Helen, Brown Laura G., Pyntikova Tatyana, Cho Ting-Jan, Koutseva Natalia, Zaghlul Sara, Graves Tina, Rock Susie, et al. , Nature, 4/2014, Volume 508, Issue 7497, p.494 - 499, (2014)
A map of human genome variation from population-scale sequencing., Abecasis, Gonçalo R., Altshuler David, Auton Adam, Brooks Lisa D., Durbin Richard M., Gibbs Richard A., Hurles Matt E., and McVean Gil A. , Nature, 2010 Oct 28, Volume 467, Issue 7319, p.1061-73, (2010) Abstract
MAPK target sites of eyes absent are not required for eye development or survival in Drosophila., Jusiak, Barbara, Abulimiti Abuduaini, Haelterman Nele, Chen Rui, and Mardon Graeme , PloS one, 2012, Volume 7, Issue 12, p.e50776, (2012) Abstract
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25., Hasham, Sumera N., Willing Marcia C., Guo Dong-Chuan, Muilenburg Ann, He Rumin, Tran Van T., Scherer Steven E., Shete Sanjay S., and Milewicz Dianna M. , Circulation, 2003 Jul 1, Volume 107, Issue 25, p.3184-90, (2003) Abstract
Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression., Kram, A., Li L., Zhang R. D., Yoon D. S., Ro J. Y., Johnston D., Grossman H. B., Scherer S., and Czerniak B. , Laboratory investigation; a journal of technical methods and pathology, 2001 Jul, Volume 81, Issue 7, p.1039-48, (2001) 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
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
The Matchmaker Exchange: a platform for rare disease gene discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
Maternal and paternal age are jointly associated with childhood autism in Jamaica., Rahbar, Mohammad H., Samms-Vaughan Maureen, Loveland Katherine A., Pearson Deborah A., Bressler Jan, Chen Zhongxue, Ardjomand-Hessabi Manouchehr, Shakespeare-Pellington Sydonnie, Grove Megan L., Beecher Compton, et al. , Journal of autism and developmental disorders, 2012 Sep, Volume 42, Issue 9, p.1928-38, (2012) Abstract
Mechanism of hedgehog signaling during Drosophila eye development., Pappu, Kartik S., Chen Rui, Middlebrooks Brooke W., Woo Catherine, Heberlein Ulrike, and Mardon Graeme , Development (Cambridge, England), 2003 Jul, Volume 130, Issue 13, p.3053-62, (2003) Abstract
Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication., Liu, Pengfei, Gelowani Violet, Zhang Feng, Drory Vivian E., Ben-Shachar Shay, Roney Erin, Medeiros Adam C., Moore Rebecca J., Divincenzo Christina, Burnette William B., et al. , American journal of human genetics, 2014 Mar 6, Volume 94, Issue 3, p.462-9, (2014) Abstract
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation., Gu, Shen, Posey Jennifer E., Yuan Bo, Carvalho Claudia M. B., Luk H. M., Erikson Kelly, Lo Ivan F. M., Leung Gordon K. C., Pickering Curtis R., Chung Brian H. Y., et al. , Human mutation, 2015 Nov 9, (2015) Abstract
The MEDLINE Retriever., Fowler, J., Barber S., Gilson H., Long K. B., and Gorry G. A. , Proceedings / the ... Annual Symposium on Computer Application [sic] in Medical Care. Symposium on Computer Applications in Medical Care, 1992, p.473-7, (1992) Abstract
Meeting the growing demands of genetic research., McGuire, Amy L., and Gibbs Richard A. , The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics, 2006 Winter, Volume 34, Issue 4, p.809-12, (2006)
Metabolomic patterns and alcohol consumption in African Americans in the Atherosclerosis Risk in Communities Study., Zheng, Yan, Yu Bing, Alexander Danny, Steffen Lyn M., Nettleton Jennifer A., and Boerwinkle Eric , The American journal of clinical nutrition, 2014 Apr 23, (2014) Abstract
Metabolomics and Incidence of Atrial Fibrillation in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study., Alonso, Alvaro, Yu Bing, Qureshi Waqas T., Grams Morgan E., Selvin Elizabeth, Soliman Elsayed Z., Loehr Laura R., Chen Lin Y., Agarwal Sunil K., Alexander Danny, et al. , PloS one, 2015, Volume 10, Issue 11, p.e0142610, (2015) Abstract


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