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Murray H. Brilliant - Publications

Affiliations: 
Genetics University of Arizona, Tucson, AZ 
Area:
Genetics, Medical and Forensic Anthropology
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23 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2012 Tuli AM, Valenzuela RK, Kamugisha E, Brilliant MH. Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? Medical Hypotheses. 79: 875-8. PMID 23063908 DOI: 10.1016/J.Mehy.2012.09.013  0.366
2010 Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant M, Noebels J, Beaudet AL. Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. Plos One. 5: e12278. PMID 20808828 DOI: 10.1371/Journal.Pone.0012278  0.396
2010 Valenzuela RK, Henderson MS, Walsh MH, Garrison NA, Kelch JT, Cohen-Barak O, Erickson DT, John Meaney F, Bruce Walsh J, Cheng KC, Ito S, Wakamatsu K, Frudakis T, Thomas M, Brilliant MH. Predicting phenotype from genotype: normal pigmentation. Journal of Forensic Sciences. 55: 315-22. PMID 20158590 DOI: 10.1111/J.1556-4029.2009.01317.X  0.334
2010 Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, et al. Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. American Journal of Human Genetics. 86: 148-60. PMID 20137774 DOI: 10.1016/J.Ajhg.2010.01.016  0.384
2009 Carrasco A, Forbes EM, Jeambrun P, Brilliant MH. A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population. Pigment Cell & Melanoma Research. 22: 645-7. PMID 19397757 DOI: 10.1111/J.1755-148X.2009.00575.X  0.346
2007 Cohen-Barak O, Erickson DT, Badowski MS, Fuchs DA, Klassen CL, Harris DT, Brilliant MH. Stem cell transplantation demonstrates that Sox6 represses epsilon y globin expression in definitive erythropoiesis of adult mice. Experimental Hematology. 35: 358-67. PMID 17309816 DOI: 10.1016/J.Exphem.2006.11.009  0.356
2006 Yi Z, Cohen-Barak O, Hagiwara N, Kingsley PD, Fuchs DA, Erickson DT, Epner EM, Palis J, Brilliant MH. Sox6 directly silences epsilon globin expression in definitive erythropoiesis. Plos Genetics. 2: e14. PMID 16462943 DOI: 10.1371/Journal.Pgen.0020014  0.677
2005 Ikinciogullari A, Tekin M, Dogu F, Reisli I, Tanir G, Yi Z, Garrison N, Brilliant MH, Babacan E. Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. European Journal of Pediatrics. 164: 177-9. PMID 15565285 DOI: 10.1007/S00431-004-1582-Y  0.655
2004 Odeh H, Hagiwara N, Skynner M, Mitchem KL, Beyer LA, Allen ND, Brilliant MH, Lebart MC, Dolan DF, Raphael Y, Kohrman DC. Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus. Audiology & Neuro-Otology. 9: 303-14. PMID 15347914 DOI: 10.1159/000080701  0.394
2004 Garrison NA, Yi Z, Cohen-Barak O, Huizing M, Hartnell LM, Gahl WA, Brilliant MH. P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. Journal of Medical Genetics. 41: e86. PMID 15173252 DOI: 10.1136/Jmg.2003.014902  0.685
2003 Cohen-Barak O, Yi Z, Hagiwara N, Monzen K, Komuro I, Brilliant MH. Sox6 regulation of cardiac myocyte development. Nucleic Acids Research. 31: 5941-8. PMID 14530442 DOI: 10.1093/Nar/Gkg807  0.679
2003 Hagiwara N, Katarova Z, Siracusa LD, Brilliant MH. Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in mice. Developmental Biology. 254: 93-101. PMID 12606284 DOI: 10.1016/S0012-1606(02)00030-1  0.315
2003 Yi Z, Garrison N, Cohen-Barak O, Karafet TM, King RA, Erickson RP, Hammer MF, Brilliant MH. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. American Journal of Human Genetics. 72: 62-72. PMID 12469324 DOI: 10.1086/345380  0.681
2001 Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. American Journal of Human Genetics. 69: 981-8. PMID 11574907 DOI: 10.1086/324340  0.426
2001 Brilliant MH. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Research / Sponsored by the European Society For Pigment Cell Research and the International Pigment Cell Society. 14: 86-93. PMID 11310796 DOI: 10.1034/J.1600-0749.2001.140203.X  0.346
2001 Cohen-Barak O, Hagiwara N, Arlt MF, Horton JP, Brilliant MH. Cloning, characterization and chromosome mapping of the human SOX6 gene. Gene. 265: 157-64. PMID 11255018 DOI: 10.1016/S0378-1119(01)00346-8  0.36
2000 Puri N, Gardner JM, Brilliant MH. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. The Journal of Investigative Dermatology. 115: 607-13. PMID 10998131 DOI: 10.1046/J.1523-1747.2000.00108.X  0.352
2000 Lehman AL, Silvers WK, Puri N, Wakamatsu K, Ito S, Brilliant MH. The underwhite (uw) locus acts autonomously and reduces the production of melanin. The Journal of Investigative Dermatology. 115: 601-6. PMID 10998130 DOI: 10.1046/J.1523-1747.2000.00107.X  0.434
2000 Hagiwara N, Klewer SE, Samson RA, Erickson DT, Lyon MF, Brilliant MH. Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. Proceedings of the National Academy of Sciences of the United States of America. 97: 4180-5. PMID 10760285 DOI: 10.1073/Pnas.97.8.4180  0.421
1998 Oetting WS, Gardner JM, Fryer JP, Ching A, Durham-Pierre D, King RA, Brilliant MH. Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online. Human Mutation. 12: 434. PMID 10671067 DOI: 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU16>3.0.CO;2-7  0.308
1998 Lehman AL, Nakatsu Y, Ching A, Bronson RT, Oakey RJ, Keiper-Hrynko N, Finger JN, Durham-Pierre D, Horton DB, Newton JM, Lyon MF, Brilliant MH. A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proceedings of the National Academy of Sciences of the United States of America. 95: 9436-41. PMID 9689098 DOI: 10.1073/Pnas.95.16.9436  0.406
1998 Wildenberg SC, Fryer JP, Gardner JM, Oetting WS, Brilliant MH, King RA. Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. The Journal of Investigative Dermatology. 110: 777-81. PMID 9579545 DOI: 10.1046/J.1523-1747.1998.00183.X  0.396
1992 Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science (New York, N.Y.). 257: 1121-4. PMID 1509264 DOI: 10.1126/Science.257.5073.1121  0.306
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