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Publications

2016
PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation., Gordon, Adam S., Fulton Robert S., Qin Xiang, Mardis Elaine R., Nickerson Deborah A., and Scherer Steve , Pharmacogenetics and genomics, 2016 Jan 5, (2016) Abstract
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors., Parsons, Williams D., Roy Angshumoy, Yang Yaping, Wang Tao, Scollon Sarah, Bergstrom Katie, Kerstein Robin A., Gutierrez Stephanie, Petersen Andrea K., Bavle Abhishek, et al. , JAMA oncology, 2016 Jan 28, (2016) Abstract
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
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa., Xu, Mingchu, Yamada Takeyuki, Sun Zixi, Eblimit Aiden, Lopez Irma, Wang Feng, Manya Hiroshi, Xu Shan, Zhao Li, Li Yumei, et al. , Human molecular genetics, 2016 Jan 28, (2016) Abstract
EVOLUTIONARY AND DEVELOPMENTAL IMPLICATIONS OF ASYMMETRIC BRAIN FOLDING IN A LARGE PRIMATE PEDIGREE., Atkinson, Elizabeth G., Rogers Jeffrey, and Cheverud James M. , Evolution; international journal of organic evolution, 2016 Jan 26, (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
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death., Boone, Philip M., Yuan Bo, Gu Shen, Ma Zhiwei, Gambin Tomasz, Gonzaga-Jauregui Claudia, Jain Mahim, Murdock Todd J., White Janson J., Jhangiani Shalini N., et al. , Molecular genetics & genomic medicine, 2016 Jan, Volume 4, Issue 1, p.77-94, (2016) Abstract
Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines., Chhibber, A., French C. E., Yee S. W., Gamazon E. R., Theusch E., Qin X., Webb A., Papp A. C., Wang A., Simmons C. Q., et al. , The pharmacogenomics journal, 2016 Feb 9, (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
Sources of variation in hair cortisol in wild and captive non-human primates., Fourie, Nicolaas H., Brown Janine L., Jolly Clifford J., Phillips-Conroy Jane E., Rogers Jeffrey, and Bernstein Robin M. , Zoology (Jena, Germany), 2016 Feb 2, (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
Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study., Vu, Khanh N., Ballantyne Christie M., Hoogeveen Ron C., Nambi Vijay, Volcik Kelly A., Boerwinkle Eric, and Morrison Alanna C. , PloS one, 2016, Volume 11, Issue 2, p.e0148765, (2016) Abstract
DNAism: exploring genomic datasets on the web with Horizon Charts., Rio Deiros, David, Gibbs Richard A., and Rogers Jeffrey , BMC bioinformatics, 2016, Volume 17, Issue 1, p.49, (2016) Abstract
From genomic medicine to precision medicine: highlights of 2015., Auffray, Charles, Caulfield Timothy, Griffin Julian L., Khoury Muin J., Lupski James R., and Schwab Matthias , Genome medicine, 2016, Volume 8, Issue 1, p.12, (2016)
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
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis., Gomez-Ospina, Natalia, Potter Carol J., Xiao Rui, Manickam Kandamurugu, Kim Mi-Sun, Kim Kang Ho, Shneider Benjamin L., Picarsic Jennifer L., Jacobson Theodora A., Zhang Jing, et al. , Nature communications, 2016, Volume 7, p.10713, (2016) Abstract
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity., Tajiguli, Abulikemu, Xu Mingchu, Fu Qing, Yiming Rouzimaimaiti, Wang Keqing, Li Yumei, Eblimit Aiden, Sui Ruifang, Chen Rui, and Aisa Haji Akber , Scientific reports, 2016, Volume 6, p.21384, (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
POGZ truncating alleles cause syndromic intellectual disability., White, Janson, Beck Christine R., Harel Tamar, Posey Jennifer E., Jhangiani Shalini N., Tang Sha, Farwell Kelly D., Powis Zöe, Mendelsohn Nancy J., Baker Janice A., et al. , Genome medicine, 2016, Volume 8, Issue 1, p.3, (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
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics., James, Regis A., Campbell Ian M., Chen Edward S., Boone Philip M., Rao Mitchell A., Bainbridge Matthew N., Lupski James R., Yang Yaping, Eng Christine M., Posey Jennifer E., et al. , Genome medicine, 2016, Volume 8, Issue 1, p.13, (2016) Abstract
X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family., Xiao, Yangyan, Liu Xiao, Tang Luosheng, Wang Xia, Coursy Terry, Guo Xiaojian, and Li Zhuo , Scientific reports, 2016, Volume 6, p.20118, (2016) Abstract
2015
Novel genetic causes for cerebral visual impairment., Bosch, Daniëlle G. M., Boonstra Nienke F., de Leeuw Nicole, Pfundt Rolph, Nillesen Willy M., de Ligt Joep, Gilissen Christian, Jhangiani Shalini, Lupski James R., Cremers Frans P. M., et al. , European journal of human genetics : EJHG, 2015 Sep 9, (2015) Abstract


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