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Publications

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A
High-Quality Draft Genome Sequence of Francisella tularensis subsp. holarctica Strain OR96-0246., Atkins, L. M., Holder M. E., Ajami N. J., Metcalf G. A., Weissenberger G. M., Wang M., Vee V., Han Y., Muzny D. M., Gibbs R. A., et al. , Genome announcements, 2015, Volume 3, Issue 4, (2015) 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
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)
B
WDR62 missense mutation in a consanguineous family with primary microcephaly., Bacino, Carlos A., Arriola Luis A., Wiszniewska Joanna, and Bonnen Penelope E. , American journal of medical genetics. Part A, 2012 Mar, Volume 158A, Issue 3, p.622-5, (2012) Abstract
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype., Bacino, Carlos A., Dhar Shweta U., Brunetti-Pierri Nicola, Lee Brendan, and Bonnen Penelope E. , American journal of medical genetics. Part A, 2012 Nov, Volume 158A, Issue 11, p.2917-24, (2012) Abstract
Two Novel Simian Arteriviruses in Captive and Wild Baboons (Papio spp.)., Bailey, Adam L., Lauck Michael, Sibley Samuel D., Pecotte Jerilyn, Rice Karen, Weny Geoffrey, Tumukunde Alex, Hyeroba David, Greene Justin, Correll Michael, et al. , Journal of virology, 2014 Sep 3, (2014) Abstract
Durable sequence stability and bone marrow tropism in a macaque model of human pegivirus infection., Bailey, Adam L., Lauck Michael, Mohns Mariel, Peterson Eric J., Beheler Kerry, Brunner Kevin G., Crosno Kristin, Mejia Andres, Mutschler James, Gehrke Matthew, et al. , Science translational medicine, 2015 Sep 16, Volume 7, Issue 305, p.305ra144, (2015) 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
Zoonotic Potential of Simian Arteriviruses., Bailey, Adam L., Lauck Michael, Sibley Samuel D., Friedrich Thomas C., Kuhn Jens H., Freimer Nelson B., Jasinska Anna J., Phillips-Conroy Jane E., Jolly Clifford J., Marx Preston A., et al. , Journal of virology, 2015 Nov 11, (2015) Abstract
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities., Bainbridge, Matthew N., Wang Min, Wu Yuanqing, Newsham Irene, Muzny Donna M., Jefferies John L., Albert Thomas J., Burgess Daniel L., and Gibbs Richard A. , Genome biology, 2011, Volume 12, Issue 7, p.R68, (2011) 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
Whole exome capture in solution with 3 Gbp of data., Bainbridge, Matthew N., Wang Min, Burgess Daniel L., Kovar Christie, Rodesch Matthew J., D'Ascenzo Mark, Kitzman Jacob, Wu Yuan-Qing, Newsham Irene, Richmond Todd A., et al. , Genome biology, 2010, Volume 11, Issue 6, p.R62, (2010) 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
Whole-genome sequencing for optimized patient management., Bainbridge, Matthew N., Wiszniewski Wojciech, Murdock David R., Friedman Jennifer, Gonzaga-Jauregui Claudia, Newsham Irene, Reid Jeffrey G., Fink John K., Morgan Margaret B., Gingras Marie-Claude, et al. , Science translational medicine, 2011 Jun 15, Volume 3, Issue 87, p.87re3, (2011) 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
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome., Bainbridge, Matthew N., Hu Hao, Muzny Donna M., Musante Luciana, Lupski James R., Graham Brett H., Chen Wei, Gripp Karen W., Jenny Kim, Wienker Thomas F., et al. , Genome medicine, 2013 Feb 5, Volume 5, Issue 2, p.11, (2013) Abstract
PCR test for cystic fibrosis deletion., Ballabio, A., Gibbs R. A., and Caskey C. T. , Nature, 1990 Jan 18, Volume 343, Issue 6255, p.220, (1990)
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions., Bamshad, Michael J., Shendure Jay A., Valle David, Hamosh Ada, Lupski James R., Gibbs Richard A., Boerwinkle Eric, Lifton Richard P., Gerstein Mark, Gunel Murat, et al. , American journal of medical genetics. Part A, 2012 Jul, Volume 158A, Issue 7, p.1523-5, (2012) Abstract
Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels., Barbalic, Maja, Dupuis Josée, Dehghan Abbas, Bis Joshua C., Hoogeveen Ron C., Schnabel Renate B., Nambi Vijay, Bretler Monique, Smith Nicholas L., Peters Annette, et al. , Human molecular genetics, 2010 May 1, Volume 19, Issue 9, p.1863-72, (2010) Abstract
Genome-wide association analysis of incident coronary heart disease (CHD) in African Americans: a short report., Barbalic, Maja, Reiner Alex P., Wu Chunyuan, Hixson James E., Franceschini Nora, Eaton Charles B., Heiss Gerardo, Couper David, Mosley Thomas, and Boerwinkle Eric , PLoS genetics, 2011 Aug, Volume 7, Issue 8, p.e1002199, (2011) Abstract
Kininogen gene (KNG) variation has a consistent effect on aldosterone response to antihypertensive drug therapy: the GERA study., Barbalic, Maja, Schwartz Gary L., Chapman Arlene B., Turner Stephen T., and Boerwinkle Eric , Physiological genomics, 2009 Sep 9, Volume 39, Issue 1, p.56-60, (2009) Abstract
Integrating the UMLS into VNS Retriever., Barber, S., Fowler J., Long K. B., Dargahi R., and Meyer B. , Proceedings / the ... Annual Symposium on Computer Application [sic] in Medical Care. Symposium on Computer Applications in Medical Care, 1992, p.273-7, (1992) Abstract
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal., Bardoni, B., Zanaria E., Guioli S., Floridia G., Worley K. C., Tonini G., Ferrante E., Chiumello G., McCabe E. R., and Fraccaro M. , Nature genetics, 1994 Aug, Volume 7, Issue 4, p.497-501, (1994) Abstract
Lack of genetic linkage evidence for a trans-acting factor having a large effect on plasma lipoprotein[a] levels in African Americans., Barkley, Ruth Ann, Brown Andrew C., Hanis Craig L., Kardia Sharon L., Turner Stephen T., and Boerwinkle Eric , Journal of lipid research, 2003 Jul, Volume 44, Issue 7, p.1301-5, (2003) Abstract


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