Skip to Content

Publications

Filters: First Letter Of Last Name is D  [Clear All Filters]
2016
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1., Soens, Zachry T., Li Yuanyuan, Zhao Li, Eblimit Aiden, Dharmat Rachayata, Li Yumei, Chen Yiyun, Naqeeb Mohammed, Fajardo Norma, Lopez Irma, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2016 Jan 28, (2016) Abstract
Ampullary Cancers Harbor the Tumor Suppressor Gene ELF3 and Exhibit Frequent WNT Dysregulation., Gingras, Marie-Claude, Covington Kyle R., Chang David K., Donehower Lawrence A., Gill Anthony J., Ittmann Michael M., Creighton Chad J., Johns Amber L., Shinbrot Eve, Dewal Ninad, et al. , Cell reports, 2016 Jan 19, (2016) Abstract
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations., Lalani, Seema R., Liu Pengfei, Rosenfeld Jill A., Watkin Levi B., Chiang Theodore, Leduc Magalie S., Zhu Wenmiao, Ding Yan, Pan Shujuan, Vetrini Francesco, et al. , American journal of human genetics, 2016 Jan 19, (2016) Abstract
Genomic analyses identify molecular subtypes of pancreatic cancer., Bailey, Peter, Chang David K., Nones Katia, Johns Amber L., Patch Ann-Marie, Gingras Marie-Claude, Miller David K., Christ Angelika N., Bruxner Tim J. C., Quinn Michael C., et al. , Nature, 2016 Feb 24, (2016) Abstract
The impact of multiple single day blood pressure readings on cardiovascular risk estimation: The Atherosclerosis Risk in Communities study., Ogunwale, Abayomi N., Morrison Alanna C., Sun Wensheng, Dodge Rhiannon C., Virani Salim S., Taylor Addison, Gottesman Rebecca F., Yang Eric, Wei Peng, McEvoy John W., et al. , European journal of preventive cardiology, 2016 Feb 11, (2016) Abstract
Association of the IGF1 gene with fasting insulin levels., Willems, Sara M., Cornes Belinda K., Brody Jennifer A., Morrison Alanna C., Lipovich Leonard, Dauriz Marco, Chen Yuning, Liu Ching-Ti, Rybin Denis V., Gibbs Richard A., et al. , European journal of human genetics : EJHG, 2016 Feb 10, (2016) Abstract
Functional annotation of rare gene aberration drivers of pancreatic cancer., Tsang, Yiu Huen, Dogruluk Turgut, Tedeschi Philip M., Wardwell-Ozgo Joanna, Lu Hengyu, Espitia Maribel, Nair Nikitha, Minelli Rosalba, Chong Zechen, Chen Fengju, et al. , Nature communications, 2016, Volume 7, p.10500, (2016) Abstract
An open access pilot freely sharing cancer genomic data from participants in Texas., Becnel, Lauren B., Pereira Stacey, Drummond Jennifer A., Gingras Marie-Claude, Covington Kyle R., Kovar Christie L., Doddapaneni Harshavardhan, Hu Jianhong, Muzny Donna, McGuire Amy L., et al. , Scientific data, 2016, Volume 3, p.160010, (2016) Abstract
Unique features of a global human ectoparasite identified through sequencing of the bed bug genome., Benoit, Joshua B., Adelman Zach N., Reinhardt Klaus, Dolan Amanda, Poelchau Monica, Jennings Emily C., Szuter Elise M., Hagan Richard W., Gujar Hemant, Shukla Jayendra Nath, et al. , Nature communications, 2016, Volume 7, p.10165, (2016) Abstract
2015
Complexity and Diversity of F8 Genetic Variations in the 1000 Genomes., Li, Jiani, Carrero Ivenise G., Dong Jing-fei, and Yu Fuli , Journal of thrombosis and haemostasis : JTH, 2015 Sep 18, (2015) Abstract
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF., Huffman, Jennifer E., de Vries Paul S., Morrison Alanna C., Sabater-Lleal Maria, Kacprowski Tim, Auer Paul L., Brody Jennifer A., Chasman Daniel I., Chen Ming-Huei, Guo Xiuqing, et al. , Blood, 2015 Sep 10, Volume 126, Issue 11, p.e19-29, (2015) Abstract
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes., Appadurai, Vivek, DeBarber Andrea, Chiang Pei-Wen, Patel Shailendra B., Steiner Robert D., Tyler Charles, and Bonnen Penelope E. , Molecular genetics and metabolism, 2015 Oct 26, (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
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease., Karaca, Ender, Harel Tamar, Pehlivan Davut, Jhangiani Shalini N., Gambin Tomasz, Akdemir Zeynep Coban, Gonzaga-Jauregui Claudia, Erdin Serkan, Bayram Yavuz, Campbell Ian M., et al. , Neuron, 2015 Nov 4, Volume 88, Issue 3, p.499-513, (2015) Abstract
Hemichordate genomes and deuterostome origins., Simakov, Oleg, Kawashima Takeshi, Marlétaz Ferdinand, Jenkins Jerry, Koyanagi Ryo, Mitros Therese, Hisata Kanako, Bredeson Jessen, Shoguchi Eiichi, Gyoja Fuki, et al. , Nature, 2015 Nov 26, Volume 527, Issue 7579, p.459-65, (2015) Abstract
Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome., Naves, Luciana A., Daly Adrian F., Dias Luiz Augusto, Yuan Bo, Zakir Juliano Coelho Oliveira, Barra Gustavo Barcellos, Palmeira Leonor, Villa Chiara, Trivellin Giampaolo, Júnior Armindo Jreige, et al. , Endocrine, 2015 Nov 25, (2015) Abstract
Reorganization and expansion of the nidoviral family Arteriviridae., Kuhn, Jens H., Lauck Michael, Bailey Adam L., Shchetinin Alexey M., Vishnevskaya Tatyana V., Bào Yīmíng, Ng Terry Fei Fan, LeBreton Matthew, Schneider Bradley S., Gillis Amethyst, et al. , Archives of virology, 2015 Nov 25, (2015) Abstract
Whole-Exome Sequencing in Familial Parkinson Disease., Farlow, Janice L., Robak Laurie A., Hetrick Kurt, Bowling Kevin, Boerwinkle Eric, Coban-Akdemir Zeynep H., Gambin Tomasz, Gibbs Richard A., Gu Shen, Jain Preti, et al. , JAMA neurology, 2015 Nov 23, p.1-8, (2015) Abstract
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair., Day, Felix R., Ruth Katherine S., Thompson Deborah J., Lunetta Kathryn L., Pervjakova Natalia, Chasman Daniel I., Stolk Lisette, Finucane Hilary K., Sulem Patrick, Bulik-Sullivan Brendan, et al. , Nature genetics, 2015 Nov, Volume 47, Issue 11, p.1294-303, (2015) Abstract
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
Factors associated with blood lead concentrations of children in Jamaica., Rahbar, Mohammad H., Samms-Vaughan Maureen, Dickerson Aisha S., Loveland Katherine A., Ardjomand-Hessabi Manouchehr, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., and Boerwinkle Eric , Journal of environmental science and health. Part A, Toxic/hazardous substances & environmental engineering, 2015 May 12, Volume 50, Issue 6, p.529-39, (2015) Abstract
Single stimulus fMRI produces a neural individual difference measure for Autism Spectrum Disorder., Lu, James, Kishida Ken, De Asis Cruz Josepheen, Lohrenz Terry, Deering Diane Treadwell, Beauchamp Michael, and Montague Read P. , Clinical psychological science : a journal of the Association for Psychological Science, 2015 May 1, Volume 3, Issue 3, p.422-432, (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
Roger et Al. Respond to "future of population studies"., Roger, Véronique L., Boerwinkle Eric, Crapo James D., Douglas Pamela S., Epstein Jonathan A., Granger Christopher B., Greenland Philip, Kohane Isaac, and Psaty Bruce M. , American journal of epidemiology, 2015 Mar 15, Volume 181, Issue 6, p.372-3, (2015)


about seo