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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
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
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
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
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
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
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
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
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
Phosphorylation of the mutant K303R estrogen receptor alpha at serine 305 affects aromatase inhibitor sensitivity., Barone, I., Iacopetta D., Covington K. R., Cui Y., Tsimelzon A., Beyer A., Andò S., and Fuqua S. A. W. , Oncogene, 2010 Apr 22, Volume 29, Issue 16, p.2404-14, (2010) Abstract
Leptin mediates tumor-stromal interactions that promote the invasive growth of breast cancer cells., Barone, Ines, Catalano Stefania, Gelsomino Luca, Marsico Stefania, Giordano Cinzia, Panza Salvatore, Bonofiglio Daniela, Bossi Gianluca, Covington Kyle R., Fuqua Suzanne A. W., et al. , Cancer research, 2012 Mar 15, Volume 72, Issue 6, p.1416-27, (2012) Abstract
Estrogen Receptor-Positive Breast Cancer Cells Drive CAFs to Secrete Leptin and Support Tumor Invasiveness, Barone, Ines, Catalano Stefania, Gelsomino Luca, Panza Salvatore, Marsico Stefania, Giordano Cinzia, Bonofiglio Daniela, Casaburi Ivan, Covington Kyle R., Fuqua Suzanne, et al. , The FASEB Journal, Volume 26, p.142–7, (2012)
Phosphorylation of the mutant K303R estrogen receptor alpha at serine 305 affects aromatase inhibitor sensitivity., Barone, I., Iacopetta D., Covington K. R., Cui Y., Tsimelzon A., Beyer A., Andò S., and Fuqua S. A. W. , Oncogene, 2010 Apr 22, Volume 29, Issue 16, p.2404-14, (2010) Abstract
No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects., Baumert, Jens, Huang Jie, McKnight Barbara, Sabater-Lleal Maria, Steri Maristella, Chu Audrey Y., Trompet Stella, Lopez Lorna M., Fornage Myriam, Teumer Alexander, et al. , PloS one, 2014, Volume 9, Issue 12, p.e111156, (2014) Abstract
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI., Bayram, Yavuz, Aydin Hatip, Gambin Tomasz, Akdemir Zeynep Coban, Atik Mehmed M., Karaca Ender, Karaman Ali, Pehlivan Davut, Jhangiani Shalini N., Gibbs Richard A., et al. , American journal of medical genetics. Part A, 2015 Apr 6, (2015) Abstract
Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism., Bayram, Yavuz, Gulsuner Suleyman, Guran Tulay, Abaci Ayhan, Yesil Gozde, Gulsuner Hilal Unal, Atay Zeynep, Pierce Sarah B., Gambin Tomasz, Lee Ming, et al. , The Journal of clinical endocrinology and metabolism, 2015 Mar 16, p.jc20151150, (2015) Abstract
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome., Bayram, Yavuz, Pehlivan Davut, Karaca Ender, Gambin Tomasz, Jhangiani Shalini N., Erdin Serkan, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna, Elcioglu Nursel H., et al. , American journal of medical genetics. Part A, 2014 Sep, Volume 164A, Issue 9, p.2328-34, (2014) Abstract
FBN1 contributing to familial congenital diaphragmatic hernia., Beck, Tyler F., Campeau Philippe M., Jhangiani Shalini N., Gambin Tomasz, Li Alexander H., Abo-Zahrah Reem, Jordan Valerie K., Hernandez-Garcia Andres, Wiszniewski Wojciech K., Muzny Donna, et al. , American journal of medical genetics. Part A, 2015 Apr, Volume 167, Issue 4, p.831-6, (2015) Abstract


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