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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)
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
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)
M
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 PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome., Lalani, Seema R., Zhang Jing, Schaaf Christian P., Brown Chester W., Magoulas Pilar, Tsai Anne Chun-Hui, El-Gharbawy Areeg, Wierenga Klaas J., Bartholomew Dennis, Fong Chin-To, et al. , American journal of human genetics, 2014 Nov 6, Volume 95, Issue 5, p.579-83, (2014) 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 NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration, Koenekoop, Robert K., Wang Hui, Majewski Jacek, Wang Xia, Lopez Irma, Ren Huanan, Chen Yiyun, Li Yumei, Fishman Gerald A., Genead Mohammed, et al. , Nature Genetics, 7/2012, Volume 44, Issue 9, p.1035 - 1039, (2012)
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
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
Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome., Arai, Eri, Sakamoto Hiromi, Ichikawa Hitoshi, Totsuka Hirohiko, Chiku Suenori, Gotoh Masahiro, Mori Taisuke, Nakatani Tamao, Ohnami Sumiko, Nakagawa Tohru, et al. , International journal of cancer. Journal international du cancer, 2014 Feb 6, (2014) 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
Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes., Reid, Jeffrey G., Nagaraja Ankur K., Lynn Francis C., Drabek Rafal B., Muzny Donna M., Shaw Chad A., Weiss Michelle K., Naghavi Arash O., Khan Mahjabeen, Zhu Huifeng, et al. , Genome research, 2008 Oct, Volume 18, Issue 10, p.1571-81, (2008) Abstract
Morphological detection of plasma membrane changes during apoptosis using enhanced green fluorescent protein., Shinbrot, E., Spencer C. M., and Kain S. R. , BioTechniques, 1999 Jun, Volume 26, Issue 6, p.1064-6, 1068, (1999)
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations, Rainger, Joe, Pehlivan Davut, Johansson Stefan, Bengani Hemant, Sanchez-Pulido Luis, Williamson Kathleen A., Ture Mehmet, Barker Heather, Rosendahl Karen, Spranger Jürgen, et al. , The American Journal of Human Genetics, 06/2014, Volume 94, Issue 6, p.915 - 923, (2014)
Mis-assembled "segmental duplications" in two versions of the Bos taurus genome., Zimin, Aleksey V., Kelley David R., Roberts Michael, Marçais Guillaume, Salzberg Steven L., and Yorke James A. , PloS one, 2012, Volume 7, Issue 8, p.e42680, (2012) Abstract
Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications., Yilmaz, Pelin, Kottmann Renzo, Field Dawn, Knight Rob, Cole James R., Amaral-Zettler Linda, Gilbert Jack A., Karsch-Mizrachi Ilene, Johnston Anjanette, Cochrane Guy, et al. , Nature biotechnology, 2011 May, Volume 29, Issue 5, p.415-20, (2011) Abstract
Metastasis tumor-associated protein 2 enhances metastatic behavior and is associated with poor outcomes in estrogen receptor-negative breast cancer., Covington, Kyle R., Brusco Lauren, Barone Ines, Tsimelzon Anna, Selever Jennifer, Corona-Rodriguez Arnoldo, Brown Powel, Kumar Rakesh, Hilsenbeck Susan G., and Fuqua Suzanne A. W. , Breast cancer research and treatment, 2013 Sep 28, (2013) Abstract
Metagenomic analyses of alcohol induced pathogenic alterations in the intestinal microbiome and the effect of Lactobacillus rhamnosus GG treatment., Bull-Otterson, Lara, Feng Wenke, Kirpich Irina, Wang Yuhua, Qin Xiang, Liu Yanlong, Gobejishvili Leila, Joshi-Barve Swati, Ayvaz Tulin, Petrosino Joseph, et al. , PloS one, 2013, Volume 8, Issue 1, p.e53028, (2013) Abstract
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
The Matchmaker Exchange: a platform for rare disease gene discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
A Massive Expansion of Effector Genes Underlies Gall-Formation in the Wheat Pest Mayetiola destructor., Zhao, Chaoyang, Escalante Lucio Navarro, Chen Hang, Benatti Thiago R., Qu Jiaxin, Chellapilla Sanjay, Waterhouse Robert M., Wheeler David, Andersson Martin N., Bao Riyue, et al. , Current biology : CB, 2015 Mar 2, Volume 25, Issue 5, p.613-20, (2015) Abstract
Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression., Kram, A., Li L., Zhang R. D., Yoon D. S., Ro J. Y., Johnston D., Grossman H. B., Scherer S., and Czerniak B. , Laboratory investigation; a journal of technical methods and pathology, 2001 Jul, Volume 81, Issue 7, p.1039-48, (2001) Abstract


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