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Filters: Keyword is Mutation  [Clear All Filters]
2017
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)., Cox, Allison J., Darbro Benjamin W., Laxer Ronald M., Velez Gabriel, Bing Xinyu, Finer Alexis L., Erives Albert, Mahajan Vinit B., Bassuk Alexander G., and Ferguson Polly J. , PLoS One, 2017, Volume 12, Issue 3, p.e0169687, (2017)
2016
Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate., Darbro, Benjamin W., Singh Rohini, M Zimmerman Bridget, Mahajan Vinit B., and Bassuk Alexander G. , PLoS One, 2016, Volume 11, Issue 3, p.e0149041, (2016)
BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE., Moshfegh, Yasmin, Velez Gabriel, Li Yao, Bassuk Alexander G., Mahajan Vinit B., and Tsang Stephen H. , Hum Mol Genet, 2016 07 01, Volume 25, Issue 13, p.2672-2680, (2016)
CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa., Wu, Wen-Hsuan, Tsai Yi-Ting, Justus Sally, Lee Ting-Ting, Zhang Lijuan, Lin Chyuan-Sheng, Bassuk Alexander G., Mahajan Vinit B., and Tsang Stephen H. , Mol Ther, 2016 08, Volume 24, Issue 8, p.1388-94, (2016)
Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration., Zhang, Lijuan, Du Jianhai, Justus Sally, Hsu Chun-Wei, Bonet-Ponce Luis, Wu Wen-Hsuan, Tsai Yi-Ting, Wu Wei-Pu, Jia Yading, Duong Jimmy K., et al. , J Clin Invest, 2016 Dec 01, Volume 126, Issue 12, p.4659-4673, (2016)
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine., Mahajan, Vinit B., and Bassuk Alexander G. , Am J Hum Genet, 2016 Mar 03, Volume 98, Issue 3, p.590-591, (2016)
2015
Quantitative autofluorescence as a clinical tool for expedited differential diagnosis of retinal degeneration., Marsiglia, Marcela, Lee Winston, Mahajan Vinit B., Zernant Jana, Delori François C., Tsang Stephen H., and Sparrow Janet R. , JAMA Ophthalmol, 2015 Feb, Volume 133, Issue 2, p.219-20, (2015)
2012
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration., Mahajan, Vinit B., Skeie Jessica M., Bassuk Alexander G., Fingert John H., Braun Terry A., Daggett Heather T., Folk James C., Sheffield Val C., and Stone Edwin M. , PLoS Genet, 2012, Volume 8, Issue 10, p.e1003001, (2012)
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome., McIntyre, Rebecca E., Chavali Pavithra Lakshminar, Ismail Ozama, Carragher Damian M., Sanchez-Andrade Gabriela, Forment Josep V., Fu Beiyuan, Velasco-Herrera Martin Del Castil, Edwards Andrew, van der Weyden Louise, et al. , PLoS Genet, 2012, Volume 8, Issue 11, p.e1003022, (2012)
2011
Mutations in prickle orthologs cause seizures in flies, mice, and humans., Tao, Hirotaka, J Manak Robert, Sowers Levi, Mei Xue, Kiyonari Hiroshi, Abe Takaya, Dahdaleh Nader S., Yang Tian, Wu Shu, Chen Shan, et al. , American journal of human genetics, 2011 Feb 11, Volume 88, Issue 2, p.138-49, (2011)
2010
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia., Mahajan, Vinit B., Olney Ann Haskins, Garrett Penny, Chary Ajit, Dragan Ecaterina, Lerner Gary, Murray Jeffrey, and Bassuk Alexander G. , American journal of medical genetics. Part A, 2010 Nov, Volume 152A, Issue 11, p.2875-9, (2010)
2007
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness., Tsang, Stephen H., Woodruff Michael L., Jun Lin, Mahajan Vinit, Yamashita Clyde K., Pedersen Robert, Lin Chyuan-Sheng, Goff Stephen P., Rosenberg Thomas, Larsen Michael, et al. , Human mutation, 2007 Mar, Volume 28, Issue 3, p.243-54, (2007)