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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
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, 2014 Mar, Volume 133, Issue 3, p.331-45, (2014) Abstract
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)
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy., Riveiro-Álvarez, Rosa, Xie Yajing Angela, López-Martínez Miguel-Ángel, Gambin Tomasz, Pérez-Carro Raquel, Avila-Fernández Almudena, López-Molina María-Isabel, Zernant Jana, Jhangiani Shalini, Muzny Donna, et al. , JAMA ophthalmology, 2014 Oct 30, (2014) Abstract
A new diagnostic system for ultra-sensitive and specific detection and quantification of Candidatus Liberibacter asiaticus, the bacterium associated with citrus Huanglongbing., Lin, Hong, Chen Chuanwu, Doddapaneni Harshavardhan, Duan Yongping, Civerolo Edwin L., Bai Xianjin, and Zhao Xiaolong , Journal of microbiological methods, 2010 Apr, Volume 81, Issue 1, p.17-25, (2010) Abstract
Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome., Zhao, Zhongming, and Boerwinkle Eric , Genome research, 2002 Nov, Volume 12, Issue 11, p.1679-86, (2002) Abstract
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines, Huang, W., Massouras A., Inoue Y., Peiffer J., Ramia M., Tarone A. M., Turlapati L., Zichner T., Zhu D., Lyman R. F., et al. , Genome Research, 07/2014, Volume 24, Issue 7, p.1193 - 1208, (2014)
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MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II., Pannu, Hariyadarshi, Tran-Fadulu Van, Papke Christina L., Scherer Steve, Liu Yaozhong, Presley Caroline, Guo Dongchuan, Estrera Anthony L., Safi Hazim J., Brasier Allan R., et al. , Human molecular genetics, 2007 Oct 15, Volume 16, Issue 20, p.2453-62, (2007) Abstract
Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis., Chakraborty, Rikhia, Hampton Oliver A., Shen Xiaoyun, Simko Stephen, Shih Albert, Abhyankar Harshal, Lim Karen Phaik Har, Covington Kyle, Trevino Lisa, Dewal Ninad, et al. , Blood, 2014 Sep 8, (2014) Abstract
Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly., Gonzaga-Jauregui, Claudia, Lotze Timothy, Jamal Leila, Penney Samantha, Campbell Ian M., Pehlivan Davut, Hunter Jill V., Woodbury Suzanne L., Raymond Gerald, Adesina Adekunle M., et al. , JAMA neurology, 2013 Oct 14, (2013) Abstract
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm., Doyle, Alexander J., Doyle Jefferson J., Bessling Seneca L., Maragh Samantha, Lindsay Mark E., Schepers Dorien, Gillis Elisabeth, Mortier Geert, Homfray Tessa, Sauls Kimberly, et al. , Nature genetics, 2012 Nov, Volume 44, Issue 11, p.1249-54, (2012) Abstract
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections., Guo, Dong-Chuan, Pannu Hariyadarshi, Tran-Fadulu Van, Papke Christina L., Yu Robert K., Avidan Nili, Bourgeois Scott, Estrera Anthony L., Safi Hazim J., Sparks Elizabeth, et al. , Nature genetics, 2007 Dec, Volume 39, Issue 12, p.1488-93, (2007) Abstract
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease., Guo, Dong-Chuan, Papke Christina L., Tran-Fadulu Van, Regalado Ellen S., Avidan Nili, Johnson Ralph Jay, Kim Dong H., Pannu Hariyadarshi, Willing Marcia C., Sparks Elizabeth, et al. , American journal of human genetics, 2009 May, Volume 84, Issue 5, p.617-27, (2009) Abstract
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness., Kmoch, S., Majewski J., Ramamurthy V., Cao S., Fahiminiya S., Ren H., MacDonald I. M., Lopez I., Sun V., Keser V., et al. , Nature communications, 2015, Volume 6, p.5614, (2015) Abstract
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)
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 : official journal of the American College of Medical Genetics, 2014 Mar 20, (2014) Abstract
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 : official journal of the American College of Medical Genetics, 2014 Oct, Volume 16, Issue 10, p.751-8, (2014) 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
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome., Campeau, Philippe M., Kim Jaeseung C., Lu James T., Schwartzentruber Jeremy A., Abdul-Rahman Omar A., Schlaubitz Silke, Murdock David M., Jiang Ming-Ming, Lammer Edward J., Enns Gregory M., et al. , American journal of human genetics, 2012 Feb 10, Volume 90, Issue 2, p.282-9, (2012) Abstract
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance., Bonnen, Penelope E., Yarham John W., Besse Arnaud, Wu Ping, Faqeih Eissa A., Al-Asmari Ali Mohammad, Saleh Mohammad A. M., Eyaid Wafaa, Hadeel Alrukban, He Langping, et al. , American journal of human genetics, 2013 Sep 5, Volume 93, Issue 3, p.471-81, (2013) Abstract
Mutation screening of two candidate genes from 13q32 in families affected with Bipolar disorder: human peptide transporter (SLC15A1) and human glypican5 (GPC5)., Maheshwari, Manjula, Christian S. L., Liu C., Badner J. A., Detera-Wadleigh S., Gershon E. S., and Gibbs Richard A. , BMC genomics, 2002 Oct 22, Volume 3, Issue 1, p.30, (2002) Abstract
Mutant analysis of the Shal (Kv4) voltage-gated fast transient K+ channel in Caenorhabditis elegans., Fawcett, Gloria L., Santi Celia M., Butler Alice, Harris Thanawath, Covarrubias Manuel, and Salkoff Lawrence , The Journal of biological chemistry, 2006 Oct 13, Volume 281, Issue 41, p.30725-35, (2006) Abstract
Multiple cDNA sequences of bovine tracheal lysozyme., Takeuchi, K., Irwin D. M., Gallup M., Shinbrot E., Kai H., Stewart C. B., and Basbaum C. , The Journal of biological chemistry, 1993 Dec 25, Volume 268, Issue 36, p.27440-6, (1993) Abstract
A multilocus approach to the antihypertensive pharmacogenetics of hydrochlorothiazide., Maitland-van der Zee, Anke-Hilse, Turner Stephen T., Schwartz Gary L., Chapman Arlene B., Klungel Olaf H., and Boerwinkle Eric , Pharmacogenetics and genomics, 2005 May, Volume 15, Issue 5, p.287-93, (2005) Abstract
Multi-Ethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI., Verhaaren, Benjamin F. J., Debette Stéphanie, Bis Joshua C., Smith Jennifer A., Ikram Kamran M., Adams Hieab H., Beecham Ashley H., Rajan Kumar B., Lopez Lorna M., Barral Sandra, et al. , Circulation. Cardiovascular genetics, 2015 Feb 7, (2015) Abstract


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