Search Results - "Brilliant, Murray H."

Usefulness of alkaline hydrogen peroxide oxidation to analyze eumelanin and pheomelanin in various tissue samples: application to chemical analysis of human hair melanins by Ito, Shosuke, Nakanishi, Yukiko, Valenzuela, Robert K., Brilliant, Murray H., Kolbe, Ludger, Wakamatsu, Kazumasa

“…Summary Eumelanin and pheomelanin in tissue samples can be specifically measured as the markers pyrrole‐2,3,5‐tricarboxylic acid (PTCA) and…”
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Mining Retrospective Data for Virtual Prospective Drug Repurposing: L-DOPA and Age-related Macular Degeneration by Brilliant, Murray H., PhD, Vaziri, Kamyar, MD, Connor, Thomas B., MD, Schwartz, Stephen G., MD, MBA, Carroll, Joseph J., PhD, McCarty, Catherine A., PhD, MPH, Schrodi, Steven J., PhD, Hebbring, Scott J., PhD, Kishor, Krishna S., MD, Flynn, Harry W., MD, Moshfeghi, Andrew A., MD, Moshfeghi, Darius M., MD, Fini, M. Elizabeth, PhD, McKay, Brian S., PhD

“…Abstract Background Age-related macular degeneration (AMD) is a leading cause of visual loss among the elderly. A key cell type involved in AMD, the retinal…”
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Relationship between foveal cone specialization and pit morphology in albinism by Wilk, Melissa A, McAllister, John T, Cooper, Robert F, Dubis, Adam M, Patitucci, Teresa N, Summerfelt, Phyllis, Anderson, Jennifer L, Stepien, Kimberly E, Costakos, Deborah M, Connor, Jr, Thomas B, Wirostko, William J, Chiang, Pei-Wen, Dubra, Alfredo, Curcio, Christine A, Brilliant, Murray H, Summers, C Gail, Carroll, Joseph

“…Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and…”
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Heritable Risk and Protective Genetic Components of Glaucoma Medication Non-Adherence by Barr, Julie L, Feehan, Michael, Tak, Casey, Owen, Leah A, Finley, Robert C, Cromwell, Parker A, Lillvis, John H, Hicks, Patrice M, Au, Elizabeth, Farkas, Michael H, Weiner, Asher, Reynolds, Andrew L, Sieminski, Sandra F, Sherva, Richard M, Munger, Mark A, Brilliant, Murray H, DeAngelis, Margaret M

“…Glaucoma is the leading cause of irreversible blindness, affecting 76 million globally. It is characterized by irreversible damage to the optic nerve…”
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PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies by Hall, Molly A., Wallace, John, Lucas, Anastasia, Kim, Dokyoon, Basile, Anna O., Verma, Shefali S., McCarty, Cathy A., Brilliant, Murray H., Peissig, Peggy L., Kitchner, Terrie E., Verma, Anurag, Pendergrass, Sarah A., Dudek, Scott M., Moore, Jason H., Ritchie, Marylyn D.

“…Genome-wide, imputed, sequence, and structural data are now available for exceedingly large sample sizes. The needs for data management, handling population…”
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Phenome-wide association study maps new diseases to the human major histocompatibility complex region by Liu, Jixia, Ye, Zhan, Mayer, John G, Hoch, Brian A, Green, Clayton, Rolak, Loren, Cold, Christopher, Khor, Seik-Soon, Zheng, Xiuwen, Miyagawa, Taku, Tokunaga, Katsushi, Brilliant, Murray H, Hebbring, Scott J

“…Over 160 disease phenotypes have been mapped to the major histocompatibility complex (MHC) region on chromosome 6 by genome-wide association study (GWAS),…”
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FMR1 CGG expansions: Prevalence and sex ratios by Maenner, Matthew J., Baker, Mei W., Broman, Karl W., Tian, Jianan, Barnes, Janel K., Atkins, Anne, McPherson, Elizabeth, Hong, Jinkuk, Brilliant, Murray H., Mailick, Marsha R.

“…We have estimated the prevalence of FMR1 premutation and gray zone CGG repeat expansions in a population‐based sample of 19,996 male and female adults in…”
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Phenome-wide association studies (PheWASs) for functional variants by Ye, Zhan, Mayer, John, Ivacic, Lynn, Zhou, Zhiyi, He, Min, Schrodi, Steven J, Page, David, Brilliant, Murray H, Hebbring, Scott J

“…The genome-wide association study (GWAS) is a powerful approach for studying the genetic complexities of human disease. Unfortunately, GWASs often fail to…”
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Estimating the efficacy of pharmacogenomics over a lifetime by Ye, Zhan, Mayer, John, Leary, Emili J, Kitchner, Terrie, Dart, Richard A, Brilliant, Murray H, Hebbring, Scott J

“…It is well known that common variants in specific genes influence drug metabolism and response, but it is currently unknown what fraction of patients are given…”
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Identifying genetically driven clinical phenotypes using linear mixed models by Mosley, Jonathan D., Witte, John S., Larkin, Emma K., Bastarache, Lisa, Shaffer, Christian M., Karnes, Jason H., Stein, C. Michael, Phillips, Elizabeth, Hebbring, Scott J., Brilliant, Murray H., Mayer, John, Ye, Zhan, Roden, Dan M., Denny, Joshua C.

“…We hypothesized that generalized linear mixed models (GLMMs), which estimate the additive genetic variance underlying phenotype variability, would facilitate…”
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Predicting Phenotype from Genotype: Normal Pigmentation by Valenzuela, Robert K., Henderson, Miquia S., Walsh, Monica H., Garrison, Nanibaa' A., Kelch, Jessica T., Cohen-Barak, Orit, Erickson, Drew T., John Meaney, F., Bruce Walsh, J., Cheng, Keith C., Ito, Shosuke, Wakamatsu, Kazumasa, Frudakis, Tony, Thomas, Matthew, Brilliant, Murray H.

“…:  Genetic information in forensic studies is largely limited to CODIS data and the ability to match samples and assign them to an individual. However, there…”
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A GWAS Study on Liver Function Test Using eMERGE Network Participants by Namjou, Bahram, Marsolo, Keith, Lingren, Todd, Ritchie, Marylyn D, Verma, Shefali S, Cobb, Beth L, Perry, Cassandra, Kitchner, Terrie E, Brilliant, Murray H, Peissig, Peggy L, Borthwick, Kenneth M, Williams, Marc S, Grafton, Jane, Jarvik, Gail P, Holm, Ingrid A, Harley, John B

“…Liver enzyme levels and total serum bilirubin are under genetic control and in recent years genome-wide population-based association studies have identified…”
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Mutations in the Human Orthologue of the Mouse underwhite Gene ( uw) Underlie a New Form of Oculocutaneous Albinism, OCA4 by Newton, J.M., Cohen-Barak, Orit, Hagiwara, Nobuko, Gardner, John M., Davisson, Muriel T., King, Richard A., Brilliant, Murray H.

“…Oculocutaneous albinism (OCA) affects ∼1/20,000 people worldwide. All forms of OCA exhibit generalized hypopigmentation. Reduced pigmentation during eye…”
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Genetic-based prediction of disease traits: prediction is very difficult, especially about the future by Schrodi, Steven J, Mukherjee, Shubhabrata, Shan, Ying, Tromp, Gerard, Sninsky, John J, Callear, Amy P, Carter, Tonia C, Ye, Zhan, Haines, Jonathan L, Brilliant, Murray H, Crane, Paul K, Smelser, Diane T, Elston, Robert C, Weeks, Daniel E

“…Translation of results from genetic findings to inform medical practice is a highly anticipated goal of human genetics. The aim of this paper is to review and…”
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Sox6 directly silences epsilon globin expression in definitive erythropoiesis by Yi, Zanhua, Cohen-Barak, Orit, Hagiwara, Nobuko, Kingsley, Paul D, Fuchs, Deborah A, Erickson, Drew T, Epner, Elliot M, Palis, James, Brilliant, Murray H

“…Sox6 is a member of the Sox transcription factor family that is defined by the conserved high mobility group (HMG) DNA binding domain, first described in the…”
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FMR1 Low Zone CGG Repeats: Phenotypic Associations in the Context of Parenting Stress by Mailick, Marsha R., Hong, Jinkuk, DaWalt, Leann Smith, Greenberg, Jan S., Movaghar, Arezoo, Baker, Mei Wang, Rathouz, Paul J., Brilliant, Murray H.

“…The FMR1 gene on the X chromosome has varying numbers of CGG repeats. The modal number is 30, and expansion to >200 results in fragile X syndrome, but the copy…”
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Mutations in Grxcr1 Are The Basis for Inner Ear Dysfunction in the Pirouette Mouse by Odeh, Hana, Hunker, Kristina L., Belyantseva, Inna A., Azaiez, Hela, Avenarius, Matthew R., Zheng, Lili, Peters, Linda M., Gagnon, Leona H., Hagiwara, Nobuko, Skynner, Michael J., Brilliant, Murray H., Allen, Nicholas D., Riazuddin, Saima, Johnson, Kenneth R., Raphael, Yehoash, Najmabadi, Hossein, Friedman, Thomas B., Bartles, James R., Smith, Richard J.H., Kohrman, David C.

“…Recessive mutations at the mouse pirouette (pi) locus result in hearing loss and vestibular dysfunction due to neuroepithelial defects in the inner ear. Using…”
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Progress in oral personalized medicine: contribution of 'omics' by Glurich, Ingrid, Acharya, Amit, Brilliant, Murray H., Shukla, Sanjay K.

“…Precision medicine (PM), representing clinically applicable personalized medicine, proactively integrates and interprets multidimensional personal health data,…”
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Implementing genomic medicine in the clinic: the future is here by Manolio, Teri A., Chisholm, Rex L., Ozenberger, Brad, Roden, Dan M., Williams, Marc S., Wilson, Richard, Bick, David, Bottinger, Erwin P., Brilliant, Murray H., Eng, Charis, Frazer, Kelly A., Korf, Bruce, Ledbetter, David H., Lupski, James R., Marsh, Clay, Mrazek, David, Murray, Michael F., O’Donnell, Peter H., Rader, Daniel J., Relling, Mary V., Shuldiner, Alan R., Valle, David, Weinshilboum, Richard, Green, Eric D., Ginsburg, Geoffrey S.

“…Although the potential for genomics to contribute to clinical care has long been anticipated, the pace of defining the risks and benefits of incorporating…”
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Albinism in Africa: a medical and social emergency by Brilliant, Murray H.

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