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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 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 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 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 human IFT140 cause non-syndromic retinal degeneration., Xu, Mingchu, Yang Lizhu, Wang Feng, Li Huajin, Wang Xia, Wang Weichen, Ge Zhongqi, Wang Keqing, Zhao Li, Li Hui, et al. , Human genetics, 2015 Oct, Volume 134, Issue 10, p.1069-78, (2015) 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
Mutational landscape of aggressive cutaneous squamous cell carcinoma., Pickering, Curtis R., Zhou Jane H., Lee Jack J., Drummond Jennifer A., Peng Andrew S., Saade Rami E., Tsai Kenneth Y., Curry Jonathan, Tetzlaff Michael T., Lai Stephen Y., et al. , Clinical cancer research : an official journal of the American Association for Cancer Research, 2014 Oct 10, (2014) 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
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
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses., Campbell, Ian M., Gambin Tomasz, Jhanghiani Shalini, Grove Megan L., Veeraraghavan Narayanan, Muzny Donna, Shaw Chad A., Gibbs Richard A., Boerwinkle Eric, Yu Fuli, et al. , Human mutation, 2015 Dec 16, (2015) 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)


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