• Murray H Brilliant PhD

  • Interim Director of Center for Precision Medicine Research


    • Center for Precision Medicine Research
    • 1000 North Oak Ave. MLR Marshfield, WI 54449

Education


1984 to 1986:
Postdoctoral Reseach Associate - Laboratory of Dr. Dona Chikaraishi: Studies on non-polyadenylated mRNAs of the brain, Tufts University, Boston
1977 to 1984:
Graduate Student - Laboratory of Dr. Noboru Sueoka; Research on gene expression and RNA sequence complexities of brain and other tissues in the rat, University of Colorado
1984:
PhD, Molecular, Cellular and Developmental Biology, University of Colorado, Boulder
1982 to 1983:
Graduate Student - Laboratory of Dr. Dona Chikaraishi: Studies of individual rare class mRNAs of the brain, National Jewish Hospital, Denver
1976 to 1977:
Graduate Student - Laboratory of Dr. Richard Ham, University of Colorado
1974:
BS, Biology - Magna Cum Laude, Syracuse University, Syracuse

Work Experience


2009 to Present:
Director - Center for Human Genetics, Marshfield Clinic Research Institute, Marshfield
2009 to Present:
Lead Genetic Scientist, Wisconsin Genome Initiative, Madison
2009 to Present:
Director - ICTR Translational Technologies and Research Core, Marshfield Clinic, Marshfield
2009 to Present:
Member - Institute for Clinical and Translational Research, University of Wisconsin and Marshfield Clinic, Marshfield
2003 to 2009:
Chair - Graduate Interdisciplinary Program in Genetics, University of Arizona School of Medicine, Tucson
1997 to 2009:
Lindholm Professor of Mammalian Genetics Chair, University of Arizona School of Medicine, Tucson
1997 to 2009:
Lindholm Professor of Mammalian Genetics, Department of Pediatrics, University of Tucson, Tucson
1993 to 1997:
Adj. Assistant Professor of Human Genetics - Faculty of Medicine, University of Pennsylvania
1993 to 1997:
Member (with tenure), Institute for Cancer Research, Philadelphia
1993 to 1997:
Member, Fox Chase Cancer Center, Philadelphia
1989 to 1993:
Associate Member, Fox Chase Cancer Center, Philadelphia
1989 to 1993:
Associate Member, Institute for Cancer Research, Philadelphia
1987 to 1989:
Faculty Short Course in Medical and Experimental Mammalian Genetics, Jackson Laboratory, Bar Harbor
1986 to 1989:
Associate Staff Scientist, Jackson Laboratory, Bar Harbor
1984 to 1986:
Postdoctoral Research Associate in Neuroscience, Tufts University, Boston

Honors & Awards


1978 to 1979:
Piton Foundation Educational Grant
1982:
University of Colorado

Statement


Dr. Brilliant is a geneticist and Director of the Center for Human Genetics at the Marshfield Clinic Research Institute. For the past 30 years, he has worked on Mendelian traits such as albinism and complex traits such as Age-Related Macular Degeneration. Dr. Brilliant is the Principal Investigator for a large state-wide Precision Medicine Project, “All of Us – Wisconsin,” funded by the NIH that aims to recruit a cohort of 100,000 people in Wisconsin to promote precision medicine research and an eMERGE (Electronic Medical Records and Genomics) grant to identify the genetic basis for a large number of medical traits and disorders. His translational efforts aim at reducing adverse drug events in the clinic through pre-emptive genetic testing and discovering novel disease treatments through drug repurposing.

Committees


1990:
The National Science Foundation, Ad-hoc Reviewer
1991:
The Scleroderma Foundation, Ad-hoc Reviewer
1992 to 1993:
NIH - Mammalian Genetics Study Section, Special Reviewer
1992 to 1993:
Nature, Nature Genetics, Science, Genetics, Cell, Genomics, Mammalian Genome, Human Genetics, Gene, Journal fo Heredity, Proceedings of the National Academy of Science, Journal of Cancer Research, Journal of Investigative Dermatology, Human Mutation, Reviewer
1992 to 1993:
NIH - Mammalian Genetics Study Section, Special Reviewer
1995:
NIH - Mammalian Genetics Study Section, Special Reviewer
1996:
GMA-1 Study Section - NIH, Special Reviewer
1992 to 1996:
PanAmerican Society for Pigment Cell Research, Council Member
1993 to 1997:
Mouse Chromosome 7 Committee - International Mammalian Genome Society, Chairman
1997 to 1999:
Department of Pediatrics, Research Committee
1998 to 1999:
NIH Intramural Reviewer, Reviewer
2000 to 2001:
RFA on Mutagenesis, NIH Special Reviewer
2002:
GMA-1 Study Section - NIH, Special Reviewer
1999 to 2002:
Research Committee - Department of Pediatrics, Chair
2004:
GMA-1 Study Section - NIH, Special Reviewer
1994 to 2004:
Pigment Cell Research, Associate Editor
2004 to 2005:
Search Committee, Cell Biology and Anatomy Department Head
1997 to 2009:
Mammalian Genome, Editorial Board
Herediatry Hemorrhagic Telangiectasic Foundation, Member
1999 to Present:
Interdisciplinary Graduate Program in Genetics - University of Arizona, Executive Committee
1999 to Present:
National Organization for Albinism and Hypopigmentation, Scientific Advisory Board
1999 to Present:
Genetics Society of America, Member
1999 to Present:
PanAmerican Society for Pigment Cell Research, Member
1999 to Present:
International Mammalian Genome Society, Member
2001 to Present:
Space Committee - Department of Pediatrics, Member
2001 to Present:
Promotion and Tenure Committee - Department of Pediatrics, Member
2002 to Present:
Research Steering Committee - Department of Pediatrics, Chair
2003 to Present:
Research Steering Committee - Department of Pediatrics, Mentoring Review
2003 to Present:
Interdisciplinary Graduate Program in Genetics, University of Arizona, Chair
2004 to Present:
Board of Advisors, Initative for Maximizing Student Diversity (MSD) for PHD's in Biomedical Sciences, Member
2004 to Present:
Genomic Analysis and Technology Core Committee, Biotechnology
2005 to Present:
Scientific Advisory Board - National Organization of Albinism and Hypopigmentation, Member
2008 to Present:
International Mammalian Genome Society, Member
2008 to Present:
Genetics Society of American, Member
2008 to Present:
Hereditary Hemorrhagic Telangietasia Foundation - Board of Directors and Scientific Liaison, Member
2008 to Present:
PanAmerican Society for Pigment Cell Research, Member

Select Publications


  • Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H,...NEIGHBORHOOD consortium. (2019 Jan 8). Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nat Commun. 10(1):155.
    PubMed ID: 30622277
  • Carter TC, Hebbring SJ, Liu J, Mosley JD, Shaffer CM, Ivacic LC,...Belongia EA [including Kopitzke S, Stefanski EL, Strenn R, Meece J, Brilliant MH.] (2018 March). Pilot screening study of targeted genetic polymorphisms for association with seasonal influenza hospital admission. J. Med. Virol.. 90(3):436-446.
    PubMed ID: 29053189
  • Huang X, Elston RC, Rosa GJ, Mayer J, Ye Z, Kitchner T,...Hebbring SJ [including Brilliant MH.] (2018 February 15). Applying Family Analyses to Electronic Health Records to Facilitate Genetic Research. BIOINFORMATICS. 34(4):635-642.
    PubMed ID: 28968884
  • Bailey JNC, Gharahkhani P, Kang JH, Butkiewicz M, Sullivan DA, Weinreb RN,...Pasquale LR [including Brilliant MH.] (2018 February 1). Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets. Invest Ophthalmol Vis Sci. 59(2):629-636.
    PubMed ID: 29392307
  • Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT,...Denny JC [including Brilliant M.] (2018 Mar 16). Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science. 359(6381):1233-1239.
    PubMed ID: 29590070
  • Gharahkhani P, Burdon KP, Cooke Bailey JN, Hewitt AW, Law MH, Pasquale LR,...NEIGHBORHOOD consortium. (2018 Feb 15). Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Sci Rep. 8(1):3124.
    PubMed ID: 29449654
  • Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS,...Brilliant MH. (2018 Mar 16). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat. Genet..
    PubMed ID: 29549330
  • Bishop-Fitzpatrick L, Movaghar A, Greenberg JS, Page D, DaWalt LS, Brilliant MH, Mailick MR. (2018 May 7). Using machine learning to identify patterns of lifetime health problems in decedents with autism spectrum disorder. Autism Res.
    PubMed ID: 29734508
  • Mailick MR, Movaghar A, Hong J, Greenberg JS, DaWalt LS, Zhou L,...Berry-Kravis E [including Brilliant M.] (2018 May 16). Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome. Front Genet. 9 :173.
    PubMed ID: 29868121
  • Mosley JD, Feng Q, Wells QS, Van Driest SL, Shaffer CM, Edwards TL,...Roden DM [including Peissig PL, Brilliant MH, Linneman JG.] (2018 Aug 30). A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers. Nat Commun. 9(1):3522.
    PubMed ID: 30166544
  • Antommaria AHM, Brothers KB, Myers JA, Feygin YB, Aufox SA, Brilliant MH,...Holm IA. (2018 Sep 21). Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey. AJOB Empir Bioeth. :1-15.
    PubMed ID: 30240342
  • Lee DJ, Woertz EN, Visotcky A, Wilk MA, Heitkotter H, Linderman RE,...Carroll J [including Brilliant MH.] (2018 Nov 1). The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density. Invest. Ophthalmol. Vis. Sci.. 59(13):5336-5348.
    PubMed ID: 30398625
  • Mosley JD, Benson MD, Smith JG, Melander O, Ngo D, Shaffer CM,...Wang TJ [including Peissig PL, Brilliant MH, Kitchner TE, Linneman JG.] (2018 Nov 27). Probing the Virtual Proteome to Identify Novel Disease Biomarkers. Circulation. 138(22):2469-2481.
    PubMed ID: 30571344
  • Almoguera B, Vazquez L, Mentch F, March ME, Connolly JJ, Peissig PL,...Hakonarson H [including Linneman JG, Brilliant M.] (2018 Nov 9). Novel locus for atopic dermatitis in African Americans and replication in European Americans. J. Allergy Clin. Immunol..
    PubMed ID: 30414857
  • Pasquale LR, Aschard H, Kang JH, Bailey JN, Lindström S, Chasman DI,...Wiggs JL [including Brilliant MH.] (2017 February). Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample. Menopause. 24(2):150-156.
    PubMed ID: 27760082
  • Schmidt AF, Swerdlow DI, Holmes MV, Patel RS, Fairhurst-Hunter Z, Lyall DM,...Sattar N [including Brilliant M, Kitchner T.] (2017 February). PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study. Lancet Diabetes Endocrinol. 5(2):97-105.
    PubMed ID: 27908689
  • Adamsheck HC, Petty EM, Hong J, Baker MW, Brilliant MH, Mailick MR. (2017 June 30). Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records. J Genet Couns.
    PubMed ID: 28667565
  • Marouli E, Graff M, Medina-Gomez, [...], Brilliant MH, Peissig PL, et al. (2017 February). Rare and low-frequency coding variants alter human adult height. NATURE. 542(7640):186-90.
    PubMed ID: 28146470
  • Sanderson SC, Brothers KB, Mercaldo ND, Clayton EW, Antommaria AH, Aufox SA,...Holm IA [including Brilliant MH, Kitchner TE, McManus VD.] (2017 March 2). Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. Am J Hum Genet. 100(3):414-427.
    PubMed ID: 28190457
  • Mosley JD, Shoemaker MB, Wells QS, Darbar D, Shaffer CM, Edwards TL,...Roden DM [including Brilliant MH, Linneman JG.] (2017 April). Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes. Circ Cardiovasc Genet. 10(2)
    PubMed ID: 28416512
  • Karnes JH, Bastarache L, Shaffer CM, Gaudieri S, Xu Y, Glazer AM,...Denny JC [including Ye Z, Mayer JG, Brilliant MH, Hebbring SJ.] (2017 May 10). Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants. Sci Transl Med. 9(389)
    PubMed ID: 28490672
  • Almoguera B, Vazquez L, Mentch F, Connolly J, Pacheco JA, Sundaresan AS,...Hakonarson H [including Peissig PL, Linneman JG, Brilliant M.] (2017 February 15). Identification of Four Novel Loci in Asthma in European American and African American Populations. Am J Respir Crit Care Med. 195(4):456-463.
    PubMed ID: 27611488
  • Aschard H, Kang JH, Iglesias AI, Hysi P, Cooke Bailey JN, Khawaja AP,...Pasquale LR [including Brilliant MH.] (2017 August 30). Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis. Eur J Hum Genet.
    PubMed ID: 28853718
  • Peissig P, Schwei KM, Kadolph C, Finamore J, Cancel E, McCarty CA,...Brilliant MH. (2017 September 13). Prototype Development: Context-Driven Dynamic XML Ophthalmologic Data Capture Application. JMIR Med Inform. 5(3):e27.
    PubMed ID: 28903894
  • Hall MA, Wallace J, Lucas A, Kim D, Basile AO, Verma SS,...Ritchie MD [including Brilliant MH, Peissig PL, Kitchner TE.] (2017 October 27). PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies. Nat Commun. 8(1):1167.
    PubMed ID: 29079728
  • Grassmann F, Kiel C, Zimmermann ME, Gorski M, Grassmann V, Stark K,...Weber BH [including International AMD Genomics Consortium (IAMDGC).] (2017 March 27). Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. Genome Med. 9(1):29.
    PubMed ID: 28347358
  • Chintalapudi SR, Maria D, Di Wang X, Bailey JNC, NEIGHBORHOOD consortium, Hysi PG,...Jablonski MM. (2017 November 24). Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility. Nat Commun. 8(1):1755.
    PubMed ID: 29176626
  • Peissig PL, Nikolai A, Glurich I, Brilliant M. (2016). Personalized Medicine. In: Hock FJ (Ed.), Drug Discovery and Evaluation: Pharmacological Assays. (pp. 4235-4249). Switzerland: Springer International Publishing.
  • Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL,...Heid IM [including Hebbring SJ, Kitchner TE, Brilliant MH.] (2016 February 21). A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet. 48(2):134-43..
    PubMed ID: 26691988
  • Kim D, Lucas A, Glessner J, Verma SS, Bradford Y, Li R,...Ritchie MD [including Peissig P, Brilliant M.] (2016 February). BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN. Pac Symp Biocomput. 21 :357-68.
    PubMed ID: 26776200
  • Basile AO, Wallace JR, Peissig P, McCarty CA, Brilliant M, Ritchie MD. (2016 February). KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN. Pac Symp Biocomput. 21 :249-60.
    PubMed ID: 26776191
  • Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC,...Wiggs JL [including Brilliant M.] (2016 February). Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet. 48(2):189-94.
    PubMed ID: 26752265
  • Mosley JD, Witte JS, Larkin EK, Bastarache L, Shaffer CM, Karnes JH,...Denny JC [including Hebbring SJ, Brilliant MH, Mayer J, Ye Z.] (2016 April 25). Identifying genetically driven clinical phenotypes using linear mixed models. Nat Commun. 7 :11433.
    PubMed ID: 27109359
  • Li R, Dudek SM, Kim D, Hall MA, Bradford Y, Peissig PL,...Ritchie MD [including Brilliant MH, Linneman JG.] (2016 May 10). Identification of genetic interaction networks via an evolutionary algorithm evolved Bayesian network. BioData Min. 9 :18.
    PubMed ID: 27168765
  • Liu Y, Bailey JC, Helwa I, Dismuke WM, Cai J, Drewry M,...Wiggs JL [including Brilliant MH.] (2016 August 1). A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium. Invest Ophthalmol Vis Sci. 57(10):3974-81.
    PubMed ID: 27537254
  • Mosley JD, van Driest SL, Wells QS, Shaffer CM, Edwards TL, Bastarache L,...Roden DM [including Peissig PL, Brilliant MH, Linneman JG.] (2016 December). Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data. Circ Cardiovasc Genet. 9(6):521-530.
    PubMed ID: 27780847
  • Smith ME, Sanderson SC, Brothers KB, Myers MF, McCormick J, Aufox S,...Holm IA [including Brilliant M, McManus V.] (2016 November 24). Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions. BMC Med Res Methodol. 16(1):162.
    PubMed ID: 27881091
  • Verma SS, Cooke Bailey JN, Lucas A, Bradford Y, Linneman JG, Hauser MA,...Ritchie MD [including Peissig PL, Brilliant MH.] (2016 September). Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. PLoS Genet.. 12(9):e1006186.
    PubMed ID: 27623284
  • Brilliant MH, Vaziri K, Connor TB, Schwartz SG, Carroll JJ, McCarty CA,...McKay BS [including Schrodi SJ, Hebbring SJ.] (2016 March). Mining Retrospective Data for Virtual Prospective Drug Repurposing: L-DOPA and Age-related Macular Degeneration. Am J Med. 129(3):292-8.
    PubMed ID: 26524704
  • Liu J, Ye Z, Mayer JG, Hoch BA, Green C, Rolak L,...Hebbring SJ [including Cold C, Brilliant MH.] (2016 October). Phenome-wide association study maps new diseases to the human major histocompatibility complex region. J Med Genet. 53(10):681-9.
    PubMed ID: 27287392
  • Khawaja AP, Cooke Bailey JN, Kang JH, Allingham RR, Hauser MA, Brilliant M,...Wiggs JL. (2016 September 1). Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses. Invest Ophthalmol Vis Sci. 57(11):5046-5052.
    PubMed ID: 27661856
  • Bush WS, Crosslin DR, Owusu-Obeng A, Wallace J, Almoguera B, Basford MA,...Ritchie MD [including Kitchner T, Brilliant MH.] (2016 August). Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 100(2):160-9.
    PubMed ID: 26857349
  • Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA,...Roden DM [including Kitchner TE, He MM, Brilliant MH.] (2016 January 5). Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. JAMA. 315(1):47-57.
    PubMed ID: 26746457
  • Hoh BL, Gong Y, McDonough CW, Waters MF, Royster AJ, Sheehan TO,...Johnson JA [including Brilliant MH, Kitchner TE, Linneman JG.] (2016 June). CYP2C19 and CES1 polymorphisms and efficacy of clopidogrel and aspirin dual antiplatelet therapy in patients with symptomatic intracranial atherosclerotic disease. J Neurosurg. 124(6):1746-51.
    PubMed ID: 26587656
  • Brothers KB, Holm IA, Childerhose JE, Antommaria AH, Bernhardt BA, Clayton EW,...Pediatrics Workgroup of the Clinical Sequencing Exploratory Research (CSER) Consortium. (2016 January). When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr. 168 :226-31.e1.
    PubMed ID: 26477867
  • Mosley JD, Shaffer CM, Van Driest SL, Weeke PE, Wells QS, Karnes JH,...Roden DM [including Linneman JG, Brilliant MH.] (2016 June). A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough. Pharmacogenomics J.. 16(3):231-7.
    PubMed ID: 26169577
  • Glurich I, Shukla S, Acharya A, Ginsburg GS, Brilliant MH. (2015). The oral microbiome and its relationship to genomics and oral disease. In: Sonis ST (Ed.), Genomics, Personalized Medicine, and Oral Disease. (pp. 35-65). Geneva, Switzerland: Springer International Publishing.
  • Ye Z, Mayer JG, Ivacic LC, Zhou Z, He M, Schrodi SJ,...Hebbring S [including Brilliant MH.] (2015 April). Phenome-wide association studies (PheWASs) for functional variants. Eur J Hum Genet. 23(4):523-9.
    PubMed ID: 25074467
  • Schrodi SJ, Debarber A, He M, Ye Z, Peissig PL, VanWormer JJ,...Steiner R [including Haws RM., Brilliant MH.] (2015 June). Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data. Hum Genet. 134(6):659-69.
    PubMed ID: 25893794
  • O'Brien S, Schrodi SJ, Brilliant MH, Virani S, Brautbar A. (2015 August). Differential Lipid Response to Statins is Associated with Variants in the BUD13-APOA5 Gene Region. J Cardiovasc Pharmacol.. 66(2):183-8..
    PubMed ID: 25900265
  • Shukla SK, Murali NS, Brilliant MH. (2015 August 15). Personalized medicine going precise: from genomics to microbiomics. Trends Mol Med.. 21(8):461-2.
    PubMed ID: 26129865
  • He M, Person TN, Hebbring S, Heinzen E, Ye Z, Schrodi SJ,...Wang K [including McPherson EW, Peissig PL, Brilliant MH.] (2015 April). SeqHBase: a big data toolset for family based sequencing data analysis. JOURNAL OF MEDICAL GENETICS. 52(4):282-8.
    PubMed ID: 25587064
  • Glurich I, Acharya A, Brilliant MH, Shukla SK. (2015 September 4). Progress in oral personalized medicine: contribution of 'omics'. J Oral Microbiol. 7 :28223.
    PubMed ID: 26344171
  • Peissig PL, Nikolai A, Glurich I, Brilliant M. (2015 March 20). Drug Discover and Evaluation: Pharmacological Assays. Personalized Medicine. :1-16.
  • Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR,...Jarvik GP [including Kitchner TE, Brilliant MH.] (2015 October 1). Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. Am J Hum Genet. 97(4):512-20.
    PubMed ID: 26365338
  • Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG,...Starren J [including Peissig P.] (2015 August). A conceptual model for translating omic data into clinical action. J Pathol Inform. 6 :46.
    PubMed ID: 26430534
  • Namjou B, Marsolo K, Lingren T, Ritchie MD, Verma SS, Cobb BL,...Harley JB [including Kitchner TE, Brilliant MH, Peissig PL.] (2015 September 28). A GWAS Study on Liver Function Test Using eMERGE Network Participants. PLoS One. 10(9):e0138677.
    PubMed ID: 26413716
  • Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG,...Starren J [including Peissig P.] (2015 September 28). Practical considerations in genomic decision support: The eMERGE experience. J Pathol Inform. 6 :50.
    PubMed ID: 26605115
  • Lee S, Schimmenti LA, King RA, Brilliant M, Anderson JL, Schoonveld C, Summers CG. (2015 December). Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. J AAPOS. 19(6):562-4.
    PubMed ID: 26691042
  • McCafferty BK, Wilk MA, McAllister JT, Stepien KE, Dubis AM, Brilliant MH,...Summers CG [including Anderson JL.] (2015 June). Clinical Insights Into Foveal Morphology in Albinism. J Pediatr Ophthalmol Strabismus. 52(3):167-72.
    PubMed ID: 26053207
  • Zhang W, Yu Y, Hertwig F, Thierry-Mieg J, Zhang W, Thierry-Mieg D,...Fischer M [including Brilliant MH, He MM, Hebbring S.] (2015). Comparison of RNA-seq and microarray-based models for clinical endpoint prediction. Genome Biol.. 16 :133.
    PubMed ID: 26109056
  • Van Driest SL, McGregor TL, Velez Edwards DR, Saville BR, Kitchner TE, Hebbring SJ,...Denny JC [including Brilliant M.] (2015). Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy. PLoS One. 10(6):e0127791.
    PubMed ID: 26030142
  • Dahlin A, Denny J, Roden DM, Brilliant MH, Ingram C, Kitchner TE,...Wu AC [including Linneman JG.] (2015 December). CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids. Immun Inflamm Dis. 3(4):350-9.
    PubMed ID: 26734457
  • Naidoo D, Wu AC, Brilliant MH, Denny J, Ingram C, Kitchner TE,...Medina MW [including Linneman JG.] (2015 June). A polymorphism in HLA-G modifies statin benefit in asthma. Pharmacogenomics J.. 15(3):272-7.
    PubMed ID: 25266681
  • Brilliant MH. (2015 July). Albinism in Africa: a medical and social emergency. Int Health. 7(4):223-5.
    PubMed ID: 26063702
  • Hall M, Dudek S, Goodloe R, Crawford D, Pendergrass S, Peissig PL,...Ritchie MD [including Brilliant MH.] (2014). Environment-wide association study (ewas) for type 2 diabetes in the marshfield personalized medicine research project biobank. Pac Symp Biocomput. 19 :200-11.
    PubMed ID: 24297547
  • Kang J, Loomis S, Yaspan B, Bailey J, Weinreb R, Lee R,...Pasquale L [including Brilliant MH.] (2014 June). Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma. Eye (Lond). 28(6):662-71.
    PubMed ID: 24603425
  • McCarty CA, Berg RL, Rottscheit CM, Waudby CJ, Kitchner TE, Brilliant MH. (2014 January). Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies. BMC Med Genomics. 7(1):3.
    PubMed ID: 24423110
  • Summers C, Connett JE, Holleschau AM, Anderson JL, De Becker I, McKay BS, Brilliant MH. (2014 November). Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial. Clin Experiment Ophthalmol. 42(8):713-21.
    PubMed ID: 24641678
  • Liu Y, Garrett ME, Yaspan B, Cooke Bailey J, Loomis S, Brilliant MH,...et al. (2014 December). DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma. Invest Ophthalmol Vis Sci.. 55(12):8251-8.
    PubMed ID: 25414181
  • Land ME, Cooper RF, Young JF, Berg E, Kitchner TE, Xiang Q,...Brilliant MH [including Ivacic LC.] (2014 August). Cone structure in subjects with known genetic relative risk for AMD. Optom Vis Sci. 91(8):939-49.
    PubMed ID: 25014365
  • Schrodi SJ, Mukherjee S, Shan Y, Tromp G, Sninsky JJ, Callear AP,...Weeks DE [including Carter TC, Ye Z, Brilliant MH.] (2014 June). Genetic-based prediction of disease traits: prediction is very difficult, especially about the future(†). Front Genet. 5 :162.
    PubMed ID: 24917882
  • Epperla N, Brilliant MH, Vidaillet HJ. (2014 February). Topical timolol for treatment of epistaxis in hereditary haemorrhagic telangiectasia associated with bradycardia: a look at CYP2D6 metabolising variants. BMJ Case Rep. 2014 :pii: bcr2013203056.
    PubMed ID: 24518395
  • Ye Z, Vasco DA, Carter TC, Brilliant MH, Schrodi SJ, Shukla SK. (2014 May). Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections. Front Genet. 5 :125.
    PubMed ID: 24847357
  • Wilk M, McAllister J, Cooper R, Dubis A, Patitucci T, Summerfelt P,...Carroll J [including Anderson JL, Brilliant MH.] (2014 May). Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 55(7):4186-98.
    PubMed ID: 24845642
  • Loomis S, Kang J, Weinreb R, Yaspan B, Cooke Bailey J, Gaasterland D,...Wiggs J [including Brilliant MH.] (2014 February). Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. OPHTHALMOLOGY. 121(2):508-16.
    PubMed ID: 24572674
  • Cronin RM, Field JR, Bradford Y, Shaffer CM, Carroll RJ, Mosley JD,...Denny JC [including Hebbring SJ, Peissig PL, Brilliant MH.] (2014 August 5). Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. Front Genet. 5 :250.
    PubMed ID: 25177340
  • Barrie ES, Weinshenker D, Verma A, Pendergrass SA, Lange LA, Ritchie MD,...Sadee W [including Brilliant MH, Hebbring SJ.] (2014 December 5). Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity. Circ Res. 115(12):1017-25.
    PubMed ID: 25326128
  • Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ,...Hammond CJ [including NEIGHBORHOOD Consortium.] (2014 September 22). Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 5 :4883.
    PubMed ID: 25241763
  • SEQC/MAQC-III Consortium. (2014 September). A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium. Nat. Biotechnol.. 32(9):903-14.
    PubMed ID: 25150838
  • Bailey JN, Yaspan BL, Pasquale LR, Hauser MA, Kang JH, Loomis SJ,...Wiggs JL [including Brilliant M.] (2014 October). Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma. Hum Genet. 133(10):1319-30.
    PubMed ID: 25037249
  • Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ,...Denny JC [including Brautbar A, Brilliant MH, Lin S.] (2014 October). Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther. 96(4):482-9.
    PubMed ID: 24960519
  • Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W,... eMERGE Act-ROR Committee and CERC Committee. (2014 June 5). Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 94(6):818-26.
    PubMed ID: 24814192
  • McCarty CA, Huggins W, Aiello AE, Bilder RM, Hariri A, Jernigan TL,...PhenX RISING network. (2014 March 20). PhenX RISING: real world implementation and sharing of PhenX measures. BMC Med Genomics. 7 :16.
    PubMed ID: 24650325
  • Maenner M, Baker M, Broman KW, Tian J, Barnes J, Atkins A,...Mailick M [including McPherson EW, Brilliant MH.] (2013 July). FMR1 CGG expansions: Prevalence and sex ratios. Am J Med Genet B Neuropsychiatr Genet. 162(5):466-73.
    PubMed ID: 23740716
  • Gottesman O, Kuivaniemi H, Tromp G, Faucett W, Li R, Manolio T,...Peissig P [including Brilliant MH.] (2013 October). The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. GENETICS IN MEDICINE. 15(10):761-71.
    PubMed ID: 23743551
  • Hebbring S, Slager S, Epperla N, Mazza JJ, Ye Z, Zhou Z,...Schrodi SJ [including Vasco DA, Brilliant MH.] (2013 January). Genetic evidence of PTPN22 effects on chronic lymphocytic leukemia. BLOOD. 121(1):237-8.
    PubMed ID: 23287625
  • Hebbring S, Schrodi SJ, Ye Z, Zhou Z, Page D, Brilliant MH. (2013 April). A PheWAS approach in studying HLA-DRB1*1501 GENES AND IMMUNITY. 14(3):187-91.
    PubMed ID: 23392276
  • Hartzler A, McCarty CA, Rasmussen LV, Williams M, Brilliant MH, Bowton E,...Trinidad S. (2013 October). Stakeholder engagement: a key component of integrating genomic information into electronic health records. GENETICS IN MEDICINE. 15(10):792-801.
    PubMed ID: 24030437
  • Manolio T, Chisholm R, Ozenberger B, Roden DM, Williams M, Wilson R,...Ginsburg G [including Brilliant MH.] (2013 April). Implementing genomic medicine in the clinic: the future is here. GENETICS IN MEDICINE. 15(4):258-67.
    PubMed ID: 23306799
  • Pasquale L, Loomis S, Weinreb R, Kang J, Yaspan B, Bailey J,...Wiggs J [including Brilliant MH.] (2013 July). Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States. MOLECULAR VISION. 19 :1471-81.
    PubMed ID: 23869166
  • Denny J, Bastarache L, Ritchie MD, Carroll R, Zink R, Mosley J,...Roden DM [including Peissig PL, Brilliant MH.] (2013 November). Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. NATURE BIOTECHNOLOGY. 31(12):1102-1111.
    PubMed ID: 24270849
  • Glurich IE, Acharya A, Shukla SK, Nycz G, Brilliant MH. (2013 January). The oral-systemic personalized medicine model at Marshfield Clinic. ORAL DISEASES. 19(1):1-17.
    PubMed ID: 22458294
  • Zhou Z, He M, Brilliant M, Brautbar A, Miller A, Weichelt B, Lin S. (2013 September). PS3-2: Informatics Challenges to Implement Pharmacogenetics to Clinical Practice. Clin Med Res. 11(3):147-148.
  • Foth WS, Waudby CJ, Brilliant MH. (2012 August). Certificates of Confidentiality and the Marshfield Clinic’s Personalized Medicine Research Project Virtual Mentor. 14(8):653-656.
  • Tuli AM, Valenzuela R, Kamugisha E, Brilliant MH. (2012 Dec). Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? MEDICAL HYPOTHESES. 79(6):875-8.
    PubMed ID: 23063908
  • Ito S, Nakanishi Y, Valenzuela RK, Brilliant MH, Kolbe L, Wakamatsu K. (2011 Aug). Usefulness of alkaline hydrogen peroxide oxidation to analyze eumelanin and pheomelanin in various tissue samples: application to chemical analysis of human hair melanins. Pigment Cell Melanoma Res. 24(4):605-13.
    PubMed ID: 21535429
  • Valenzuela RK, Ito S, Wakamatsu K, Brilliant MH. (2011 Oct 29). Prediction Model Validation: Normal Human Pigmentation Variation. J Forensic Res. 2 :139-151.
  • Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan CC, Bernardini IM,...Brooks BP [including Brilliant MH.] (2011 October). Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. J Clin Invest. 121(10):3914-23.
    PubMed ID: 21968110
  • Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C,...Beaudet AL [including Brilliant MH.] (2010 August). 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(8):pii: e12278.
    PubMed ID: 20808828
  • Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L,...Kohrman DC [including Brilliant MH.] (2010 February). Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. AMERICAN JOURNAL OF HUMAN GENETICS. 86(2):148-60.
    PubMed ID: 20137774
  • Valenzuela RK, Henderson MS, Walsh MH, Garrison NA, Kelch JT, Cohen-Barak O,...Brilliant MH. (2010 Mar). Predicting phenotype from genotype: normal pigmentation. JOURNAL OF FORENSIC SCIENCES. 55(2):315-22.
    PubMed ID: 20158590
  • Carrasco A, Forbes EM, Jeambrun P, Brilliant MH. (2009 October). A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population. Pigment Cell Melanoma Res. 22(5):645-7.
    PubMed ID: 19397757
  • Carmenisch TD, Brilliant MH, Segal DJ. (2008 June). Critical parameters for genome editing using zinc finger nucleases. Mini Rev Med Chem. 8(7):669-76.
    PubMed ID: 18537722
  • Brilliant MH. (2007). Oculocutaneous Albinism Type 4. In: Pagon RA, Bird TC, Dolan CR, Stephens K (Ed.), GeneReviews [Internet:www.geneclinics.org] Seattle, WA;: University of Washington:.
  • Cohen-Barak O, Erickson DT, Badowski MS, Fuchs DA, Klassen CL, Harris DT, Brilliant MH. (2007 March). Stem cell transplantation demonstrates that Sox6 represses epsilon y globin expression in definitive erythropoiesis of adult mice. EXPERIMENTAL HEMATOLOGY. 35(3):358-67.
    PubMed ID: 17309816
  • Brilliant MH. (2006). Molecular Regulation of Melanin Formation: Melanosome Transporter Proteins. In: Nordlund JJ, Boissy RE, Hearing VJ, King RA, Oetting WS, Ortonne JP (Ed.), The Pigmentary System: Physiology and Pathology. Hoboken, NJ;: Wiley-Blackwell:.
  • Yi Z, Cohen-Barak O, Hagiwara N, Kingsley PD, Fuchs DA, Erickson DT,...Brilliant MH. (2006 February). Sox6 directly silences epsilon globin expression in definitive erythropoiesis. PLoS Genetics. 2(2):e14.
    PubMed ID: 16462943
  • Ikinciogullari A, Tekin M, Dogu F, Reisli I, Tanir G, Yi Z,...Babacan E. (2005 March). Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. EUROPEAN JOURNAL OF PEDIATRICS. 164(3):177-9.
    PubMed ID: 15565285
  • Odeh H, Hagiwara N, Skynner MJ, Mitchem KL, Beyer LA, Allen ND,...Kohrman DC. (2004 September). Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus. AUDIOLOGY AND NEURO-OTOLOGY. 9(5):303-14.
    PubMed ID: 15347914
  • Garrison NA, Yi Z, Cohen-Barak O, Huizing M, Hartnell LM, Gahl W, Brilliant MH. (2004 June). P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. JOURNAL OF MEDICAL GENETICS. 41(6):e86.
    PubMed ID: 15173252
  • Yi Z, Garrison NA, Cohen-Barak O, Karafet TM, King RA, Erickson RP,...Brilliant MH. (2003 January). 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(1):62-72.
    PubMed ID: 12469324
  • Hagiwara N, Katarova Z, Siracusa LD, Brilliant MH. (2003 February). Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in mice. DEVELOPMENTAL BIOLOGY. 254(1):93-101.
    PubMed ID: 12606284
  • Cohen-Barak O, Yi Z, Hagiwara N, Monzen K, Komuro I, Brilliant MH. (2003 October). Sox6 regulation of cardiac myocyte development. NUCLEIC ACIDS RESEARCH. 15(31):5941-8.
    PubMed ID: 14530442
  • Brilliant MH. (2001 April). The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. 14(2):86-93.
    PubMed ID: 11310796
  • Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH. (2001 November). 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(5):981-8.
    PubMed ID: 11574907
  • Cohen-Barak O, Hagiwara N, Arlt MF, Horton J, Brilliant MH. (2001 March). Cloning, characterization and chromosome mapping of the human SOX6 gene. GENE. 265(1-2):157-64.
    PubMed ID: 11255018
  • Hagiwara N, Klewer SE, Samson RA, Erickson DT, Lyon MF, Brilliant MH. (2000 April). Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. Proc Natl Acad Sci U S A. 97(8):4180-5.
    PubMed ID: 10760285
  • Puri N, Gardner JM, Brilliant MH. (2000 October). Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. JOURNAL OF INVESTIGATIVE DERMATOLOGY. 115(4):607-13.
    PubMed ID: 10998131
  • Lehman AL, Silvers WK, Puri N, Wakamatsu K, Ito S, Brilliant MH. (2000 October). The underwhite (uw) locus acts autonomously and reduces the production of melanin. JOURNAL OF INVESTIGATIVE DERMATOLOGY. 115(4):601-6.
    PubMed ID: 10998130
  • Hagiwara N, Klewer S, Samson R, Lyon MF, Erickson D, Brilliant MH. (2000). An x-ray induced mutation in the mouse associated with myopathy, heart block and disruption of the Sox6 gene. Proc Natl Acad Sci USA. 97 :4180-4185.
  • Orlow SJ, Brilliant MH. (1999 February). The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. EXPERIMENTAL EYE RESEARCH. 68(2):147-54.
    PubMed ID: 10068480
  • Brilliant MH, Barsh GS. (1998). Genes Regulating the Type of Melanin Pigment Produced by the Melanocyte In: Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne JP (Ed.), The Pigmentary System: Physiology and Pathophysiology New York, NY;: Oxford University Press:.
  • Oetting WS, Gardner JM, Fryer JP, Ching A, Durham-Pierre D, King R, Brilliant MH. (1998). Mutations of the human P gene associated with Type II Oculocutaneous Albinism (OCA2). HUMAN MUTATION. 12 :434.
  • Lehman AL, Nakatsu Y, Ching A, Bronson RT, Oakey RJ, Keiper-Hrynko N,...Brilliant MH. (1998 August). A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc Natl Acad Sci U S A.. 95(16):9439-41.
    PubMed ID: 9689098
  • Sweet HO, Brilliant MH, Cook SA, Johnson KR, Davisson MT. (1998 November). A new allelic series for the underwhite gene on mouse chromosome 15. JOURNAL OF HEREDITY. 89(6):546-51.
    PubMed ID: 9864865
  • Wildenberg SC, Fryer JP, Gardner JM, Oetting WS, Brilliant MH, King R. (1998 May). Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. JOURNAL OF INVESTIGATIVE DERMATOLOGY. 110(5):777-81.
    PubMed ID: 9579545
  • Gardner JM, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT,...Brilliant MH. (1997 August). The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A. 94(17):9238-43.
    PubMed ID: 9256466
  • Homanics GE, DeLorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL,...Olsen RW. (1997 April). Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci U S A. 94(8):4143-8.
    PubMed ID: 9108119
  • Hubbard FC, Goodrow TL, Liu SC, Brilliant MH, Basset P, Mains RE, Klein-Szanto A. (1997 December). Expression of PACE4 in chemically induced carcinomas is associated with spindle cell tumor conversion and increased invasive ability. CANCER RESEARCH. 57(23):5226-31.
    PubMed ID: 9393739
  • Puri N, Durham-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH. (1997 October). Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. HUMAN GENETICS. 100(5-6):651-6.
    PubMed ID: 9341887
  • Lund PM, Puri N, Durham-Pierre D, King R, Brilliant MH. (1997 September). Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. JOURNAL OF MEDICAL GENETICS. 34(9):733-5.
    PubMed ID: 9321758
  • Brilliant MH, Williams RW, Holdener BC, Angel JM, Stern M, Hunter K. (1997). Mouse chromosome 7. MAMMALIAN GENOME. 7(Spec No):S121-42.
    PubMed ID: 9233390
  • Oetting WS, Brilliant MH, King R. (1996 August). The clinical spectrum of albinism in humans. Mol Med Today. 2(8):330-5.
    PubMed ID: 8796918
  • Durham-Pierre D, King R, Naber JM, Laken S, Brilliant MH. (1996). Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans. HUMAN MUTATION. 7(4):370-3.
    PubMed ID: 8723691
  • Oakey RJ, Keiper NM, Ching A, Brilliant MH. (1996 April). Molecular analysis of the cDNAs encoded by the pun and pJ alleles of the pink-eyed dilution locus. MAMMALIAN GENOME. 7(4):315-6.
    PubMed ID: 8661705
  • Brilliant MH, Williams RW, Holdener BC, Angel JM. (1996). Encyclopedia of the mouse genome V. Mouse chromosome 7. MAMMALIAN GENOME. 6(Spec No):S135-50.
    PubMed ID: 8800761
  • Gahl W, Potterf B, Durham-Pierre D, Brilliant MH, Hearing VJ. (1995 October). Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes. Pigment Cell Res. 8(5):229-33.
    PubMed ID: 8789196
  • Brilliant MH, Gondo Y, Magliocco AM. (1995 February). One-dimensional genome scanning: identification of the basis of a mouse mutation and identification of genomic changes in ovarian carcinoma. ELECTROPHORESIS. 16(2):163-7.
    PubMed ID: 7774555
  • Gondo Y, Brilliant MH. (1995 February). Theoretical basis of one-dimensional genome scanning: a direct method to identify the site of a mutation. ELECTROPHORESIS. 16(2):174-8.
    PubMed ID: 7774557
  • Greger V, Knoll JH, Woolf E, Glatt K, Tyndale RF, DeLorey TM,...Lalande M. (1995 March). The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation. GENOMICS. 26(2):258-64.
    PubMed ID: 7601451
  • Rosemblat S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant MH, Orlow SJ. (1994 December). Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci U S A. 91(25):12071-5.
    PubMed ID: 7991586
  • Brilliant MH, King R, Francke U, Schuffenhauer S, Meitinger T, Gardner JM,...Nakatsu Y. (1994 December). The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. Pigment Cell Res. 7(6):398-402.
    PubMed ID: 7761348
  • Brilliant MH, Ching A, Nakatsu Y, Eicher EM. (1994 September). The original pink-eyed dilution mutation (p) arose in Asiatic mice: implications for the H4 minor histocompatibility antigen, Myod1 regulation and the origin of inbred strains. GENETICS. 138(1):203-11.
    PubMed ID: 8001787
  • Magliocco AM, Brilliant MH. (1994). Genome scanning detects genetic alterations in human ovarian carcinoma. HUMAN MUTATION. 4(2):141-9.
    PubMed ID: 7981718
  • Brilliant MH, Williams RW, Conti CJ, Angel JM, Oakey RJ, Holdener BC. (1994). Mouse chromosome 7. MAMMALIAN GENOME. 5(Spec No):S104-23.
    PubMed ID: 7719000
  • Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A,...Brilliant MH. (1994 June). African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. NATURE GENETICS. 7(2):176-9.
    PubMed ID: 7920637
  • Gondo Y, Gardner JM, Nakatsu Y, Durham-Pierre D, Deveau SA, Kuper C, Brilliant MH. (1993 January). High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation. Proc Natl Acad Sci U S A. 90(1):297-301.
    PubMed ID: 8419934
  • Chang-Yeh A, Mold DE, Brilliant MH, Huang RC. (1993 January). The mouse intracisternal A particle-promoted placental gene retrotransposition is mouse-strain-specific. Proc Natl Acad Sci U S A. 90(1):292-6.
    PubMed ID: 7678343
  • Nakatsu Y, Tyndale RF, DeLorey TM, Durham-Pierre D, Gardner JM, McDanel HJ,...Brilliant MH. (1993 July). A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. NATURE. 364(6436):448-50.
    PubMed ID: 8392662
  • Lyon MF, Gondo Y, Gardner JM, Nakatsu Y, Eicher EM, Brilliant MH. (1992 August). Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci U S A. 89(15):6968-72.
    PubMed ID: 1495987
  • Brilliant MH, Gondo Y, Eicher EM. (1992). The mouse pink-eyed unstable mutation: a DNA duplication revealed by genome scanning. Pigment Cell Res. Suppl 2 :271-4.
    PubMed ID: 1409429
  • Brilliant MH, Gondo Y. (1992 November). Molecular characterization of the p(un) allele of the mouse pink-eyed dilution locus. Pigment Cell Res. 5(5 Pt 2):271-3.
    PubMed ID: 1292008
  • Banerjee SA, Hoppe P, Brilliant MH, Chikaraishi DM. (1992 November). 5' flanking sequences of the rat tyrosine hydroxylase gene target accurate tissue-specific, developmental, and transsynaptic expression in transgenic mice. JOURNAL OF NEUROSCIENCE. 12(11):4460-7.
    PubMed ID: 1359037
  • Nakatsu Y, Gondo Y, Brilliant MH. (1992). The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region. MAMMALIAN GENOME. 2(1):69-71.
    PubMed ID: 1347469
  • Brilliant MH. (1992). The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. MAMMALIAN GENOME. 3(4):187-91.
    PubMed ID: 1611213
  • Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH. (1992 August). The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. SCIENCE. 257(5073):1121-4.
    PubMed ID: 1509264
  • Fung BP, Brilliant MH, Chikaraishi DM. (1991 March). Brain-specific polyA- transcripts are detected in polyA+ RNA: do complex polyA- brain RNAs really exist? JOURNAL OF NEUROSCIENCE. 11(3):701-8.
    PubMed ID: 1705966
  • Brilliant MH, Gondo Y, Eicher EM. (1991 April). Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. SCIENCE. 252(5005):566-9.
    PubMed ID: 1673574
  • Brilliant MH, Szabo G, Katarova Z, Kozak CA, Glaser TM, Greenspan RJ, Housman DE. (1990 January). Sequences homologous to glutamic acid decarboxylase (GAD) cDNA are present on mouse chromosomes 2 and 10. GENOMICS. 6(1):115-22.
    PubMed ID: 1968040
  • Brilliant MH, Niemann MM, Eicher EM. (1987 August). Murine tyrosine hydroxylase maps to the distal end of chromosome 7 within a region conserved in mouse and man. JOURNAL OF NEUROGENETICS. 4(5):259-66.
    PubMed ID: 2889817
  • Brilliant MH, Sueoka N, Chikaraishi DM. (1984 October). Cloning of DNA corresponding to rare transcripts of rat brain: evidence of transcriptional and post-transcriptional control and of the existence of nonpolyadenylated transcripts. MOLECULAR AND CELLULAR BIOLOGY. 4(10):2187-97.
    PubMed ID: 6209557
  • Chikaraishi DM, Brilliant MH, Lewis EJ. (1983). Cloning and characterization of rat-brain-specific transcripts: rare, brain-specific transcripts and tyrosine hydroxylase. Cold Spring Harb Symp Quant Biol. 48(Pt 1):309-18.
    PubMed ID: 6144414