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Next-generation sequencing identifies rare variants associated with Noonan syndrome, Chen, P. - C., Yin J., Yu H. - W., Yuan T., Fernandez M., Yung C. K., Trinh Q. M., Peltekova V. D., Reid J. G., Tworog-Dube E., et al. , Proceedings of the National Academy of Sciences, 08/2014, Volume 111, Issue 31, p.11473 - 11478, (2014)
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia, Stray-Pedersen, Asbjørg, Backe Paul H., Sorte Hanne S., Mørkrid Lars, Chokshi Niti Y., Erichsen Hans Christian, Gambin Tomasz, Elgstøen Katja B.P., Bjørås Magnar, Wlodarski Marcin W., et al. , The American Journal of Human Genetics, 07/2014, Volume 95, Issue 1, p.96 - 107, (2014)
Squamous Cell Carcinoma of the Oral Tongue in Young Non-Smokers Is Genomically Similar to Tumors in Older Smokers, Pickering, C. R., Zhang J., Neskey D. M., Zhao M., Jasser S. A., Wang J., Ward A., Tsai C. J., Ortega Alves M. V., Zhou J. H., et al. , Clinical Cancer Research, 07/2014, Volume 20, Issue 14, p.3842 - 3848, (2014)
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway, Enns, Gregory M., Shashi Vandana, Bainbridge Matthew, Gambello Michael J., Zahir Farah R., Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, et al. , Genetics in Medicine, 03/2014, (2014)
Association of exome sequences with plasma C-reactive protein levels in >9000 participants, Schick, U. M., Auer P. L., Bis J. C., Lin H., Wei P., Pankratz N., Lange L. A., Brody J., Stitziel N. O., Kim D. S., et al. , Human Molecular Genetics, (2014)
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11, Xie, Y., Lee W., Cai C., Gambin T., Noupuu K., Sujirakul T., Ayuso C., Jhangiani S., Muzny D., Boerwinkle E., et al. , Human Molecular Genetics, (2014)
The Cancer Genome Atlas Pan-Cancer analysis project., Chang, Kyle, Creighton Chad J., Davis Caleb F., Donehower Lawrence, Drummond Jennifer, Wheeler David, Ally Adrian, Balasundaram Miruna, Birol Inanc, Butterfield Yaron S. N., et al. , Nature genetics, 2013 Sep 26, Volume 45, Issue 10, p.1113-20, (2013)
APOE Modulates the Correlation Between Triglycerides, Cholesterol, and CHD Through Pleiotropy and Gene-by-Gene Interactions., Maxwell, Taylor J., Ballantyne Christie M., Cheverud James M., Guild Cameron S., Ndumele Chiadi E., and Boerwinkle Eric , Genetics, 2013 Oct 4, (2013) Abstract
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements., Wang, Feng, Wang Hui, Tuan Han-Fang, Nguyen Duy H., Sun Vincent, Keser Vafa, Bowne Sara J., Sullivan Lori S., Luo Hongrong, Zhao Ling, et al. , Human genetics, 2013 Oct 24, (2013) Abstract
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia., Shah, Sohela, Schrader Kasmintan A., Waanders Esmé, Timms Andrew E., Vijai Joseph, Miething Cornelius, Wechsler Jeremy, Yang Jun, Hayes James, Klein Robert J., et al. , Nature genetics, 2013 Oct, Volume 45, Issue 10, p.1226-31, (2013) Abstract
Bacterial discrimination by dictyostelid amoebae reveals the complexity of ancient interspecies interactions., Nasser, Waleed, Santhanam Balaji, Miranda Edward Roshan, Parikh Anup, Juneja Kavina, Rot Gregor, Dinh Chris, Chen Rui, Zupan Blaz, Shaulsky Gad, et al. , Current biology : CB, 2013 May 20, Volume 23, Issue 10, p.862-72, (2013) Abstract
Bioactivity and Bioavailability of Ginsenosides are Dependent on the Glycosidase Activities of the A/J Mouse Intestinal Microbiome Defined by Pyrosequencing., Niu, Tao, Smith Diane L., Yang Zhen, Gao Song, Yin Taijun, Jiang Zhi-Hong, You Ming, Gibbs Richard A., Petrosino Joseph F., and Hu Ming , Pharmaceutical research, 2013 Mar, Volume 30, Issue 3, p.836-46, (2013) Abstract
Characterization of transcriptomes from sexual and asexual lineages of a New Zealand snail (Potamopyrgus antipodarum)., Wilton, Peter R., Sloan Daniel B., Logsdon John M., Doddapaneni Harshavardhan, and Neiman Maurine , Molecular ecology resources, 2013 Mar, Volume 13, Issue 2, p.289-94, (2013) Abstract
RNA interference knockdown of DNA methyl-transferase 3 affects gene alternative splicing in the honey bee., Li-Byarlay, Hongmei, Li Yang, Stroud Hume, Feng Suhua, Newman Thomas C., Kaneda Megan, Hou Kirk K., Worley Kim C., Elsik Christine G., Wickline Samuel A., et al. , Proceedings of the National Academy of Sciences of the United States of America, 2013 Jul 30, Volume 110, Issue 31, p.12750-5, (2013) Abstract
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species., Bradnam, Keith R., Fass Joseph N., Alexandrov Anton, Baranay Paul, Bechner Michael, Birol Inanç, Boisvert Sébastien, Chapman Jarrod A., Chapuis Guillaume, Chikhi Rayan, et al. , GigaScience, 2013 Jul 22, Volume 2, Issue 1, p.10, (2013) Abstract
Combined sequence-based and genetic mapping analysis of complex traits in outbred rats., Baud, Amelie, Hermsen Roel, Guryev Victor, Stridh Pernilla, Graham Delyth, McBride Martin W., Foroud Tatiana, Calderari Sophie, Diez Margarita, Ockinger Johan, et al. , Nature genetics, 2013 Jul, Volume 45, Issue 7, p.767-75, (2013) Abstract
Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers., Pickering, Curtis R., Zhang Jiexin, Yoo Suk Young, Bengtsson Linnea, Moorthy Shhyam, Neskey David M., Zhao Mei, Ortega Alves Marcus V., Chang Kyle, Drummond Jennifer, et al. , Cancer discovery, 2013 Jul, Volume 3, Issue 7, p.770-81, (2013) Abstract
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders., Lim, Elaine T., Raychaudhuri Soumya, Sanders Stephan J., Stevens Christine, Sabo Aniko, MacArthur Daniel G., Neale Benjamin M., Kirby Andrew, Ruderfer Douglas M., Fromer Menachem, et al. , Neuron, 2013 Jan 23, Volume 77, Issue 2, p.235-42, (2013) Abstract
Fat mass and obesity gene and cognitive decline: the Atherosclerosis Risk in Communities Study., Bressler, Jan, Fornage Myriam, Demerath Ellen W., Knopman David S., Monda Keri L., North Kari E., Penman Alan, Mosley Thomas H., and Boerwinkle Eric , Neurology, 2013 Jan 1, Volume 80, Issue 1, p.92-9, (2013) Abstract
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies., Yu, Bing, Barbalic Maja, Brautbar Ariel, Nambi Vijay, Hoogeveen Ron C., Tang Weihong, Mosley Thomas H., Rotter Jerome I., deFilippi Christopher R., O'Donnell Christopher J., et al. , Circulation. Cardiovascular genetics, 2013 Feb, Volume 6, Issue 1, p.82-8, (2013) Abstract
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome., Vatta, Matteo, Niu Zhiyv, Lupski James R., Putnam Philip, Spoonamore Katherine G., Fang Ping, Eng Christine M., and Willis Alecia S. , American journal of medical genetics. Part A, 2013 Dec, Volume 161A, Issue 12, p.3182-6, (2013) Abstract
Associations between metabolomic compounds and incident heart failure among African Americans: the ARIC Study., Zheng, Yan, Yu Bing, Alexander Danny, Manolio Teri A., Aguilar David, Coresh Josef, Heiss Gerardo, Boerwinkle Eric, and Nettleton Jennifer A. , American journal of epidemiology, 2013 Aug 15, Volume 178, Issue 4, p.534-42, (2013) Abstract
Genome-Wide Association Study of a Heart Failure Related Metabolomic Profile Among African Americans in the Atherosclerosis Risk in Communities (ARIC) Study., Yu, Bing, Zheng Yan, Alexander Danny, Manolio Teri A., Alonso Alvaro, Nettleton Jennifer A., and Boerwinkle Eric , Genetic epidemiology, 2013 Aug 11, (2013) Abstract
Metabolomics and incident hypertension among blacks: the atherosclerosis risk in communities study., Zheng, Yan, Yu Bing, Alexander Danny, Mosley Thomas H., Heiss Gerardo, Nettleton Jennifer A., and Boerwinkle Eric , Hypertension, 2013 Aug, Volume 62, Issue 2, p.398-403, (2013) Abstract
Mutations in KCTD1 cause scalp-ear-nipple syndrome., Marneros, Alexander G., Beck Anita E., Turner Emily H., McMillin Margaret J., Edwards Matthew J., Field Michael, de Macena Sobreira Nara Lygia, Perez Ana Beatriz A., Fortes Jose A. R., Lampe Anne K., et al. , American journal of human genetics, 2013 Apr 4, Volume 92, Issue 4, p.621-6, (2013) Abstract

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