• Murray H Brilliant PhD

  • Director of Center for Human Genetics


    • Center for Human Genetics
    • 1000 North Oak Ave. MLR Marshfield, WI 54449

Education


1997 to 2009:
Lindholm Professor of Mammalian Genetics, Departments of Pediatrics, University of Tucson, Tucson
1993 to 1997:
Adj. Assistant Professor of Human Genetics, University of Pennsylvania
1993 to 1997:
Member (with tenure): Molecular genetics of the pink-eyed dilution locus of the mouse. Mitotic recombination in mammals. Development of new methods for the direct detection of mutations., 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
1986 to 1989:
Associate Staff Scientist: Studies of non-polyadenylated mRNAs of the brain: the mapping of genes of neurological interest in the mouse; molecular genetics of mourse neurological mutants; the regulation of the gene encoding tyrosine hydroxylase; molecular genetics of the pink-eyed dilution locus of the mouse., Jackson Laboratory, Bar Harbor
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
1993 to 1997:
Adj. Assistant Professor of Human Genetics - Faculty of Medicine, University of Pennsylvania
1986 to 1989:
Associate Staff Scientist, Jackson Laboratory, Bar Harbor
1984 to 1986:
Postdoctoral Research Associate in Neuroscience, Tufts University, Boston

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.


Select Publications


  • Carter TC, Hebbring SJ, Liu J, Mosley JD, Shaffer CM, Ivacic LC, Kopitzke S, Stefanski EL, Strenn R, Sundaram ME, Meece J, Brilliant MH, Ferdinands JM, Belongia EA. Pilot screening study of targeted genetic polymorphisms for association with seasonal influenza hospital admission. J. Med. Virol.. 2018 Mar;90(3):436-446.
    PubMed ID: 29053189
  • Huang X, Elston RC, Rosa GJ, Mayer J, Ye Z, Kitchner T, Brilliant MH, Page D, Hebbring SJ. Applying Family Analyses to Electronic Health Records to Facilitate Genetic Research. BIOINFORMATICS. 2018 Feb 15;34(4):635-642.
    PubMed ID: 28968884
  • Bailey JNC, Gharahkhani P, Kang JH, Butkiewicz M, Sullivan DA, Weinreb RN, Aschard H, Allingham RR, Ashley-Koch A, Lee RK, Moroi SE, Brilliant MH, Wollstein G, Schuman JS, Fingert JH, Budenz DL, Realini T, Gaasterland T, Scott WK, Singh K, Sit AJ, Igo RP, Song YE, Hark L, Ritch R, Rhee DJ, Vollrath D, Zack DJ, Medeiros F, Vajaranant TS, Chasman DI, Christen WG, Pericak-Vance MA, Liu Y, Kraft P, Richards JE, Rosner BA, Hauser MA, Craig JE, Burdon KP, Hewitt AW, Mackey DA, Haines JL, MacGregor S, Wiggs JL, Pasquale LR. Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets. Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):629-636.
    PubMed ID: 29392307
  • Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Denny JC. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. SCIENCE. 2018 Mar 16;359(6381):1233-1239.
    PubMed ID: 29590070
  • Gharahkhani P, Burdon KP, Cooke Bailey JN, Hewitt AW, Law MH, Pasquale LR, Kang JH, Haines JL, Souzeau E, Zhou T, Siggs OM, Landers J, Awadalla M, Sharma S, Mills RA, Ridge B, Lynn D, Casson R, Graham SL, Goldberg I, White A, Healey PR, Grigg J, Lawlor M, NEIGHBORHOOD consortium. Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Sci Rep. 2018 Feb 15;8(1):3124.
    PubMed ID: 29449654
  • Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A, Graff M, Guo X, Hendricks AE, Karaderi T, Lempradl A, Locke AE, Mahajan A, Marouli E, Sivapalaratnam S, Young KL, Alfred T, Feitosa MF, Masca NGD, Manning AK, Medina-Gomez C, Brilliant MH. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet. 2018 Mar 16;
    PubMed ID: 29549330
  • Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P, Bailey JNC, Willoughby CE, Li X, Yazar S, Nag A, Khawaja AP, Polašek O, Siscovick D, Mitchell P, Tham YC, Haines JL, Kearns LS, Hayward C, Shi Y, van Leeuwen EM, Taylor KD, MacGregor S, NEIGHBORHOOD CONSORTIUM. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nat Commun. 2018 May 14;9(1):1864.
    PubMed ID: 29760442
  • Bishop-Fitzpatrick L, Movaghar A, Greenberg JS, Page D, DaWalt LS, Brilliant MH, Mailick MR. Using machine learning to identify patterns of lifetime health problems in decedents with autism spectrum disorder. Autism Res. 2018 May 7;
    PubMed ID: 29734508
  • Mailick MR, Movaghar A, Hong J, Greenberg JS, DaWalt LS, Zhou L, Jackson J, Rathouz PJ, Baker MW, Brilliant M, Page D, Berry-Kravis E. Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome. Front Genet. 2018 May 16;9 :173.
    PubMed ID: 29868121
  • Pasquale LR, Aschard H, Kang JH, Bailey JN, Lindström S, Chasman DI, Christen WG, Allingham RR, Ashley-Koch A, Lee RK, Moroi SE, Brilliant MH, Wollstein G, Schuman JS, Fingert J, Budenz DL, Realini T, Gaasterland T, Gaasterland D, Scott WK, Singh K, Sit AJ, Igo RP, Song YE, Hark L, Ritch R, Rhee DJ, Gulati V, Havens S, Vollrath D, Zack DJ, Medeiros F, Weinreb RN, Pericak-Vance MA, Liu Y, Kraft P, Richards JE, Rosner BA, Hauser MA, Haines JL, Wiggs JL. 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. 2017 Feb;24(2):150-156.
    PubMed ID: 27760082
  • Schmidt AF, Swerdlow DI, Holmes MV, Patel RS, Fairhurst-Hunter Z, Lyall DM, Hartwig FP, Horta BL, Hyppönen E, Power C, Moldovan M, van Iperen E, Hovingh GK, Demuth I, Norman K, Steinhagen-Thiessen E, Demuth J, Bertram L, Liu T, Coassin S, Willeit J, Kiechl S, Willeit K, Mason D, Wright J, Morris R, Wanamethee G, Whincup P, Ben-Shlomo Y, McLachlan S, Price JF, Kivimaki M, Welch C, Sanchez-Galvez A, Marques-Vidal P, Nicolaides A, Panayiotou AG, Onland-Moret NC, van der Schouw YT, Matullo G, Fiorito G, Guarrera S, Sacerdote C, Wareham NJ, Langenberg C, Scott R, Luan J, Bobak M, Malyutina S, Pajak A, Kubinova R, Tamosiunas A, Pikhart H, Husemoen LL, Grarup N, Pedersen O, Hansen T, Linneberg A, Simonsen KS, Cooper J, Humphries SE, Brilliant M, Kitchner T, Hakonarson H, Carrell DS, McCarty CA, Kirchner HL, Larson EB, Crosslin DR, de Andrade M, Roden DM, Denny JC, Carty C, Hancock S, Attia J, Holliday E, O'Donnell M, Yusuf S, Chong M, Pare G, van der Harst P, Said MA, Eppinga RN, Verweij N, Snieder H, Christen T, Mook-Kanamori DO, Gustafsson S, Lind L, Ingelsson E, Pazoki R, Franco O, Hofman A, Uitterlinden A, Dehghan A, Teumer A, Baumeister S, Dörr M, Lerch MM, Völker U, Völzke H, Ward J, Pell JP, Smith DJ, Meade T, Maitland-van der Zee AH, Baranova EV, Young R, Ford I, Campbell A, Padmanabhan S, Bots ML, Grobbee DE, Froguel P, Thuillier D, Balkau B, Bonnefond A, Cariou B, Smart M, Bao Y, Kumari M, Mahajan A, Ridker PM, Chasman DI, Reiner AP, Lange LA, Ritchie MD, Asselbergs FW, Casas JP, Keating BJ, Preiss D, Hingorani AD, Sattar N. PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study. Lancet Diabetes Endocrinol. 2017 Feb;5(2):97-105.
    PubMed ID: 27908689
  • Adamsheck HC, Petty EM, Hong J, Baker MW, Brilliant MH, Mailick MR. 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. 2017 Jun 30;
    PubMed ID: 28667565
  • Marouli E, Graff M, Medina-Gomez, [...], Brilliant MH, Peissig PL, et al. Rare and low-frequency coding variants alter human adult height. NATURE. 2017 Feb;542(7640):186-90.
    PubMed ID: 28146470
  • Sanderson SC, Brothers KB, Mercaldo ND, Clayton EW, Antommaria AH, Aufox SA, Brilliant MH, Campos D, Carrell DS, Connolly J, Conway P, Fullerton SM, Garrison NA, Horowitz CR, Jarvik GP, Kaufman D, Kitchner TE, Li R, Ludman EJ, McCarty CA, McCormick JB, McManus VD, Myers MF, Scrol A, Williams JL, Shrubsole MJ, Schildcrout JS, Smith ME, Holm IA. Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. Am J Hum Genet. 2017 Mar 2;100(3):414-427.
    PubMed ID: 28190457
  • Mosley JD, Shoemaker MB, Wells QS, Darbar D, Shaffer CM, Edwards TL, Bastarache L, McCarty CA, Thompson W, Chute CG, Jarvik GP, Crosslin DR, Larson EB, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Witte JS, Denny JC, Roden DM. Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes. Circ Cardiovasc Genet. 2017 Apr;10(2)
    PubMed ID: 28416512
  • Karnes JH, Bastarache L, Shaffer CM, Gaudieri S, Xu Y, Glazer AM, Mosley JD, Zhao S, Raychaudhuri S, Mallal S, Ye Z, Mayer JG, Brilliant MH, Hebbring SJ, Roden DM, Phillips EJ, Denny JC. Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants. Sci Transl Med. 2017 May 10;9(389)
    PubMed ID: 28490672
  • Almoguera B, Vazquez L, Mentch F, Connolly J, Pacheco JA, Sundaresan AS, Peissig PL, Linneman JG, McCarty CA, Crosslin D, Carrell DS, Lingren T, Namjou-Khales B, Harley JB, Larson E, Jarvik GP, Brilliant M, Williams MS, Kullo IJ, Hysinger EB, Sleiman PM, Hakonarson H. Identification of Four Novel Loci in Asthma in European American and African American Populations. Am J Respir Crit Care Med. 2017 Feb 15;195(4):456-463.
    PubMed ID: 27611488
  • Aschard H, Kang JH, Iglesias AI, Hysi P, Cooke Bailey JN, Khawaja AP, Allingham RR, Ashley-Koch A, Lee RK, Moroi SE, Brilliant MH, Wollstein G, Schuman JS, Fingert JH, Budenz DL, Realini T, Gaasterland T, Scott WK, Singh K, Sit AJ, Igo RP, Song YE, Hark L, Ritch R, Rhee DJ, Gulati V, Haven S, Vollrath D, Zack DJ, Medeiros F, Weinreb RN, Cheng CY, Chasman DI, Christen WG, Pericak-Vance MA, Liu Y, Kraft P, Richards JE, Rosner BA, Hauser MA, Klaver CCW, vanDuijn CM, Haines J, Wiggs JL, Pasquale LR. Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis. Eur J Hum Genet. 2017 Aug 30;
    PubMed ID: 28853718
  • Peissig P, Schwei KM, Kadolph C, Finamore J, Cancel E, McCarty CA, Okorie A, Thomas KL, Allen Pacheco J, Pathak J, Ellis SB, Denny JC, Rasmussen LV, Tromp G, Williams MS, Vrabec TR, Brilliant MH. Prototype Development: Context-Driven Dynamic XML Ophthalmologic Data Capture Application. JMIR Med Inform. 2017 Sep 13;5(3):e27.
    PubMed ID: 28903894
  • Hall MA, Wallace J, Lucas A, Kim D, Basile AO, Verma SS, McCarty CA, Brilliant MH, Peissig PL, Kitchner TE, Verma A, Pendergrass SA, Dudek SM, Moore JH, Ritchie MD. PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies. Nat Commun. 2017 Oct 27;8(1):1167.
    PubMed ID: 29079728
  • Grassmann F, Kiel C, Zimmermann ME, Gorski M, Grassmann V, Stark K, International AMD Genomics Consortium (IAMDGC), Heid IM, Weber BH. Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. Genome Med. 2017 Mar 27;9(1):29.
    PubMed ID: 28347358
  • Chintalapudi SR, Maria D, Di Wang X, Bailey JNC, NEIGHBORHOOD consortium, Hysi PG, Wiggs JL, Williams RW, Jablonski MM. Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility. Nat Commun. 2017 Nov 24;8(1):1755.
    PubMed ID: 29176626
  • Peissig PL, Nikolai A, Glurich I, Brilliant M. Personalized Medicine. In: Hock FJ, Drug Discovery and Evaluation: Pharmacological Assays. Switzerland, Springer International Publishing, 2016
  • Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, A Curcio C, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet. 2016 Feb 21;48(2):134-43..
    PubMed ID: 26691988
  • Kim D, Lucas A, Glessner J, Verma SS, Bradford Y, Li R, Frase AT, Hakonarson H, Peissig P, Brilliant M, Ritchie MD. BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN. Pac Symp Biocomput. 2016 Feb;21 :357-68.
    PubMed ID: 26776200
  • Basile AO, Wallace JR, Peissig P, McCarty CA, Brilliant M, Ritchie MD. KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN. Pac Symp Biocomput. 2016 Feb;21 :249-60.
    PubMed ID: 26776191
  • Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H, Chasman DI, Igo RP, Hysi PG, Glastonbury CA, Ashley-Koch A, Brilliant M, Brown AA, Budenz DL, Buil A, Cheng CY, Choi H, Christen WG, Curhan G, De Vivo I, Fingert JH, Foster PJ, Fuchs C, Gaasterland D, Gaasterland T, Hewitt AW, Hu F, Hunter DJ, Khawaja AP, Lee RK, Li Z, Lichter PR, Mackey DA, McGuffin P, Mitchell P, Moroi SE, Perera SA, Pepper KW, Qi Q, Realini T, Richards JE, Ridker PM, Rimm E, Ritch R, Ritchie M, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Tamimi RM, Topouzis F, Viswanathan AC, Verma SS, Vollrath D, Wang JJ, Weisschuh N, Wissinger B, Wollstein G, Wong TY, Yaspan BL, Zack DJ, Zhang K, Study EN, Weinreb RN, Pericak-Vance MA, Small K, Hammond CJ, Aung T, Liu Y, Vithana EN, MacGregor S, Craig JE, Kraft P, Howell G, Hauser MA, Pasquale LR, Haines JL, Wiggs JL. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet. 2016 Feb;48(2):189-94.
    PubMed ID: 26752265
  • Mosley JD, Witte JS, Larkin EK, Bastarache L, Shaffer CM, Karnes JH, Stein CM, Phillips E, Hebbring SJ, Brilliant MH, Mayer J, Ye Z, Roden DM, Denny JC. Identifying genetically driven clinical phenotypes using linear mixed models. Nat Commun. 2016 Apr 25;7 :11433.
    PubMed ID: 27109359
  • Li R, Dudek SM, Kim D, Hall MA, Bradford Y, Peissig PL, Brilliant MH, Linneman JG, McCarty CA, Bao L, Ritchie MD. Identification of genetic interaction networks via an evolutionary algorithm evolved Bayesian network. BioData Min. 2016 May 10;9 :18.
    PubMed ID: 27168765
  • Liu Y, Bailey JC, Helwa I, Dismuke WM, Cai J, Drewry M, Brilliant MH, Budenz DL, Christen WG, Chasman DI, Fingert JH, Gaasterland D, Gaasterland T, Gordon MO, Igo RP, Kang JH, Kass MA, Kraft P, Lee RK, Lichter P, Moroi SE, Realini A, Richards JE, Ritch R, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Vollrath D, Weinreb R, Medeiros F, Wollstein G, Zack DJ, Zhang K, Pericak-Vance MA, Gonzalez P, Stamer WD, Kuchtey J, Kuchtey RW, Allingham RR, Hauser MA, Pasquale LR, Haines JL, Wiggs JL. A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):3974-81.
    PubMed ID: 27537254
  • Mosley JD, van Driest SL, Wells QS, Shaffer CM, Edwards TL, Bastarache L, McCarty CA, Thompson W, Chute CG, Jarvik GP, Crosslin DR, Larson EB, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Denny JC, Roden DM. Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data. Circ Cardiovasc Genet. 2016 Dec;9(6):521-530.
    PubMed ID: 27780847
  • Smith ME, Sanderson SC, Brothers KB, Myers MF, McCormick J, Aufox S, Shrubsole MJ, Garrison NA, Mercaldo ND, Schildcrout JS, Clayton EW, Antommaria AH, Basford M, Brilliant M, Connolly JJ, Fullerton SM, Horowitz CR, Jarvik GP, Kaufman D, Kitchner T, Li R, Ludman EJ, McCarty C, McManus V, Stallings S, Williams JL, Holm IA. Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions. BMC Med Res Methodol. 2016 Nov 24;16(1):162.
    PubMed ID: 27881091
  • Verma SS, Cooke Bailey JN, Lucas A, Bradford Y, Linneman JG, Hauser MA, Pasquale LR, Peissig PL, Brilliant MH, McCarty CA, Haines JL, Wiggs JL, Vrabec TR, Tromp G, Ritchie MD. Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. PLoS Genet.. 2016 Sep;12(9):e1006186.
    PubMed ID: 27623284
  • Brilliant MH, Vaziri K, Connor TB, Schwartz SG, Carroll JJ, McCarty CA, Schrodi SJ, Hebbring SJ, Kishor KS, Flynn HW, Moshfeghi AA, Moshfeghi DM, Fini ME, McKay BS. Mining Retrospective Data for Virtual Prospective Drug Repurposing: L-DOPA and Age-related Macular Degeneration. Am J Med. 2016 Mar;129(3):292-8.
    PubMed ID: 26524704
  • Liu J, Ye Z, Mayer JG, Hoch BA, Green C, Rolak L, Cold C, Khor SS, Zheng X, Miyagawa T, Tokunaga K, Brilliant MH, Hebbring SJ. Phenome-wide association study maps new diseases to the human major histocompatibility complex region. J Med Genet. 2016 Oct;53(10):681-9.
    PubMed ID: 27287392
  • Khawaja AP, Cooke Bailey JN, Kang JH, Allingham RR, Hauser MA, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kraft P, Lee RK, Lichter PR, Liu Y, Medeiros F, Moroi SE, Richards JE, Realini T, Ritch R, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Wollstein G, Zack DJ, Zhang K, Pericak-Vance M, Weinreb RN, Haines JL, Pasquale LR, Wiggs JL. Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses. Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):5046-5052.
    PubMed ID: 27661856
  • Bush WS, Crosslin DR, Owusu-Obeng A, Wallace J, Almoguera B, Basford MA, Bielinski SJ, Carrell DS, Connolly JJ, Crawford D, Doheny KF, Gallego CJ, Gordon AS, Keating B, Kirby J, Kitchner T, Manzi S, Mejia AR, Pan V, Perry CL, Peterson JF, Prows CA, Ralston J, Scott SA, Scrol A, Smith M, Stallings SC, Veldhuizen T, Wolf W, Volpi S, Wiley K, Li R, Manolio T, Bottinger E, Brilliant MH, Carey D, Chisholm RL, Chute CG, Haines JL, Hakonarson H, Harley JB, Holm IA, Kullo IJ, Jarvik GP, Larson EB, McCarty CA, Williams MS, Denny JC, Rasmussen-Torvik LJ, Roden DM, Ritchie MD. Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 2016 Aug;100(2):160-9.
    PubMed ID: 26857349
  • Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, Kullo IJ, Abul-Husn NS, Scott SA, Bottinger E, Almoguera B, Connolly J, Chiavacci R, Hakonarson H, Rasmussen-Torvik LJ, Pan V, Persell SD, Smith M, Chisholm RL, Kitchner TE, He MM, Brilliant MH, Wallace JR, Doheny KF, Shoemaker MB, Li R, Manolio TA, Callis TE, Macaya D, Williams MS, Carey D, Kapplinger JD, Ackerman MJ, Ritchie MD, Denny JC, Roden DM. Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. JAMA. 2016 Jan 5;315(1):47-57.
    PubMed ID: 26746457
  • Hoh BL, Gong Y, McDonough CW, Waters MF, Royster AJ, Sheehan TO, Burkley B, Langaee TY, Mocco J, Zuckerman SL, Mummareddy N, Stephens ML, Ingram C, Shaffer CM, Denny JC, Brilliant MH, Kitchner TE, Linneman JG, Roden DM, Johnson JA. CYP2C19 and CES1 polymorphisms and efficacy of clopidogrel and aspirin dual antiplatelet therapy in patients with symptomatic intracranial atherosclerotic disease. J Neurosurg. 2016 Jun;124(6):1746-51.
    PubMed ID: 26587656
  • Brothers KB, Holm IA, Childerhose JE, Antommaria AH, Bernhardt BA, Clayton EW, Gelb BD, Joffe S, Lynch JA, McCormick JB, McCullough LB, Parsons DW, Sundaresan AS, Wolf WA, Yu JH, Wilfond BS, Pediatrics Workgroup of the Clinical Sequencing Exploratory Research (CSER) Consortium. When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr. 2016 Jan;168 :226-31.e1.
    PubMed ID: 26477867
  • Mosley JD, Shaffer CM, Van Driest SL, Weeke PE, Wells QS, Karnes JH, Velez Edwards DR, Wei WQ, Teixeira PL, Bastarache L, Crawford DC, Li R, Manolio TA, Bottinger EP, McCarty CA, Linneman JG, Brilliant MH, Pacheco JA, Thompson W, Chisholm RL, Jarvik GP, Crosslin DR, Carrell DS, Baldwin E, Ralston J, Larson EB, Grafton J, Scrol A, Jouni H, Kullo IJ, Tromp G, Borthwick KM, Kuivaniemi H, Carey DJ, Ritchie MD, Bradford Y, Verma SS, Chute CG, Veluchamy A, Siddiqui MK, Palmer CN, Doney A, MahmoudPour SH, Maitland-van der Zee AH, Morris AD, Denny JC, Roden DM. A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough. Pharmacogenomics J.. 2016 Jun;16(3):231-7.
    PubMed ID: 26169577
  • Glurich I, Shukla S, Acharya A, Ginsburg GS, Brilliant MH. The oral microbiome and its relationship to genomics and oral disease. In: Sonis ST, Genomics, Personalized Medicine, and Oral Disease. Geneva, Switzerland, Springer International Publishing, 2015
  • Ye Z, Mayer JG, Ivacic LC, Zhou Z, He M, Schrodi SJ, Page D, Brilliant MH, Hebbring S. Phenome-wide association studies (PheWASs) for functional variants. Eur J Hum Genet. 2015 Apr;23(4):523-9.
    PubMed ID: 25074467
  • Schrodi SJ, Debarber A, He M, Ye Z, Peissig PL, VanWormer JJ, Haws RM., Brilliant MH, Steiner R. Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data. Hum Genet. 2015 Jun;134(6):659-69.
    PubMed ID: 25893794
  • O'Brien S, Schrodi SJ, Brilliant MH, Virani S, Brautbar A. Differential Lipid Response to Statins is Associated with Variants in the BUD13-APOA5 Gene Region. J Cardiovasc Pharmacol.. 2015 Aug;66(2):183-8..
    PubMed ID: 25900265
  • Shukla SK, Murali NS, Brilliant MH. Personalized medicine going precise: from genomics to microbiomics. Trends Mol Med.. 2015 Aug 15;21(8):461-2.
    PubMed ID: 26129865
  • He M, Person TN, Hebbring S, Heinzen E, Ye Z, Schrodi SJ, McPherson EW, Lin S, Peissig PL, Brilliant MH, O'Rawe J, Robinson RJ, Lyon GJ, Wang K. SeqHBase: a big data toolset for family based sequencing data analysis. JOURNAL OF MEDICAL GENETICS. 2015 Apr;52(4):282-8.
    PubMed ID: 25587064
  • Glurich I, Acharya A, Brilliant MH, Shukla SK. Progress in oral personalized medicine: contribution of 'omics'. J Oral Microbiol. 2015 Sep 4;7 :28223.
    PubMed ID: 26344171
  • Peissig PL, Nikolai A, Glurich I, Brilliant M. Drug Discover and Evaluation: Pharmacological Assays. Personalized Medicine. 2015 Mar 20; :1-16.
  • Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR, Crane PK, Fullerton SM, Hansen K, Carrell D, Kuivaniemi H, Derr K, de Andrade M, McCarty CA, Kitchner TE, Ragon BK, Stallings SC, Papa G, Bochenek J, Smith ME, Aufox SA, Pacheco JA, Patel V, Friesema EM, Erwin AL, Gottesman O, Gerhard GS, Ritchie M, Motulsky AG, Kullo IJ, Larson EB, Tromp G, Brilliant MH, Bottinger E, Denny JC, Roden DM, Williams MS, Jarvik GP. Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. Am J Hum Genet. 2015 Oct 1;97(4):512-20.
    PubMed ID: 26365338
  • Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Denny J, Freimuth RR, Hartzler A, Kannry J, Kohane IS, Kullo IJ, Lin S, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden D, Tromp G, Williams MS, Starren J. A conceptual model for translating omic data into clinical action. J Pathol Inform. 2015 Aug;6 :46.
    PubMed ID: 26430534
  • Namjou B, Marsolo K, Lingren T, Ritchie MD, Verma SS, Cobb BL, Perry C, Kitchner TE, Brilliant MH, Peissig PL, Borthwick KM, Williams MS, Grafton J, Jarvik GP, Holm IA, Harley JB. A GWAS Study on Liver Function Test Using eMERGE Network Participants. PLoS One. 2015 Sep 28;10(9):e0138677.
    PubMed ID: 26413716
  • Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Cobb BL, Denny JC, Hakonarson H, Hartzler AL, Hripcsak G, Kannry J, Kohane IS, Kullo IJ, Lin S, Manzi S, Marsolo K, Overby CL, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden DM, Tromp G, Uphoff T, Weng C, Wolf W, Williams MS, Starren J. Practical considerations in genomic decision support: The eMERGE experience. J Pathol Inform. 2015 Sep 28;6 :50.
    PubMed ID: 26605115
  • Lee S, Schimmenti LA, King RA, Brilliant M, Anderson JL, Schoonveld C, Summers CG. Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. J AAPOS. 2015 Dec;19(6):562-4.
    PubMed ID: 26691042
  • McCafferty BK, Wilk MA, McAllister JT, Stepien KE, Dubis AM, Brilliant MH, Anderson JL, Carroll J, Summers CG. Clinical Insights Into Foveal Morphology in Albinism. J Pediatr Ophthalmol Strabismus. 2015 Jun;52(3):167-72.
    PubMed ID: 26053207
  • Zhang W, Yu Y, Hertwig F, Thierry-Mieg J, Zhang W, Thierry-Mieg D, Wang J, Furlanello C, Devanarayan V, Cheng J, Deng Y, Hero B, Hong H, Jia M, Li L, Lin SM, Nikolsky Y, Oberthuer A, Qing T, Su Z, Volland R, Wang C, Wang MD, Ai J, Albanese D, Asgharzadeh S, Avigad S, Bao W, Bessarabova M, Brilliant MH, Brors B, Chierici M, Chu TM, Zhang J, Grundy RG, He MM, Hebbring S, Kaufman HL, Lababidi S, Lancashire LJ, Li Y, Lu XX, Luo H, Ma X, Ning B, Noguera R, Peifer M, Phan JH, Roels F, Rosswog C, Shao S, Shen J, Theissen J, Tonini GP, Vandesompele J, Wu PY, Xiao W, Xu J, Xu W, Xuan J, Yang Y, Ye Z, Dong Z, Zhang KK, Yin Y, Zhao C, Zheng Y, Wolfinger RD, Shi T, Malkas LH, Berthold F, Wang J, Tong W, Shi L, Peng Z, Fischer M. Comparison of RNA-seq and microarray-based models for clinical endpoint prediction. Genome Biol.. 2015;16 :133.
    PubMed ID: 26109056
  • Van Driest SL, McGregor TL, Velez Edwards DR, Saville BR, Kitchner TE, Hebbring SJ, Brilliant M, Jouni H, Kullo IJ, Creech CB, Kannankeril PJ, Vear SI, Brothers KB, Bowton EA, Shaffer CM, Patel N, Delaney JT, Bradford Y, Wilson S, Olson LM, Crawford DC, Potts AL, Ho RH, Roden DM, Denny JC. Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy. PLoS One. 2015;10(6):e0127791.
    PubMed ID: 26030142
  • Dahlin A, Denny J, Roden DM, Brilliant MH, Ingram C, Kitchner TE, Linneman JG, Shaffer CM, Weeke P, Xu H, Kubo M, Tamari M, Clemmer GL, Ziniti J, McGeachie MJ, Tantisira KG, Weiss ST, Wu AC. CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids. Immun Inflamm Dis. 2015 Dec;3(4):350-9.
    PubMed ID: 26734457
  • Naidoo D, Wu AC, Brilliant MH, Denny J, Ingram C, Kitchner TE, Linneman JG, McGeachie MJ, Roden DM, Shaffer CM, Shah A, Weeke P, Weiss ST, Xu H, Medina MW. A polymorphism in HLA-G modifies statin benefit in asthma. Pharmacogenomics J.. 2015 Jun;15(3):272-7.
    PubMed ID: 25266681
  • Brilliant MH. Albinism in Africa: a medical and social emergency. Int Health. 2015 Jul;7(4):223-5.
    PubMed ID: 26063702
  • Hall M, Dudek S, Goodloe R, Crawford D, Pendergrass S, Peissig PL, Brilliant MH, McCarty CA, Ritchie MD. Environment-wide association study (ewas) for type 2 diabetes in the marshfield personalized medicine research project biobank. Pac Symp Biocomput. 2014;19 :200-11.
    PubMed ID: 24297547
  • Kang J, Loomis S, Yaspan B, Bailey J, Weinreb R, Lee R, Lichter P, Budenz D, Liu Y, Realini T, Gaasterland D, Gaasterland T, Friedman D, McCarty CA, Moroi S, Olson L, Schuman J, Singh K, Vollrath D, Wollstein G, Zack D, Brilliant MH, Sit A, Christen W, Fingert J, Forman J, Buys E, Kraft P, Zhang K, Allingham R, Pericak-Vance MA, Richards J, Hauser MA, Haines J, Wiggs J, Pasquale L. Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma. Eye (Lond). 2014 Jun;28(6):662-71.
    PubMed ID: 24603425
  • McCarty CA, Berg RL, Rottscheit CM, Waudby CJ, Kitchner TE, Brilliant MH. Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies. BMC Med Genomics. 2014 Jan;7(1):3.
    PubMed ID: 24423110
  • Summers C, Connett JE, Holleschau AM, Anderson JL, De Becker I, McKay BS, Brilliant MH. Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial. Clin Experiment Ophthalmol. 2014 Nov;42(8):713-21.
    PubMed ID: 24641678
  • Liu Y, Garrett ME, Yaspan B, Cooke Bailey J, Loomis S, Brilliant MH, Budenz D, Christen W, Fingert J, Gaasterland D, Gaasterland T, Kang J, et al. DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma. Invest Ophthalmol Vis Sci.. 2014 Dec;55(12):8251-8.
    PubMed ID: 25414181
  • Land ME, Cooper RF, Young JF, Berg E, Kitchner TE, Xiang Q, szabo A, Ivacic LC, Stepien KA, Page CD, Carroll J, Connor TJr, Brilliant MH. Cone structure in subjects with known genetic relative risk for AMD. Optom Vis Sci. 2014 Aug;91(8):939-49.
    PubMed ID: 25014365
  • Schrodi SJ, Mukherjee S, Shan Y, Tromp G, Sninsky JJ, Callear AP, Carter TC, Ye Z, Haines J, Brilliant MH, Crane P, Smelser DT, Elston RC, Weeks DE. Genetic-based prediction of disease traits: prediction is very difficult, especially about the future(†). Front Genet. 2014 Jun;5 :162.
    PubMed ID: 24917882
  • Epperla N, Brilliant MH, Vidaillet HJ. Topical timolol for treatment of epistaxis in hereditary haemorrhagic telangiectasia associated with bradycardia: a look at CYP2D6 metabolising variants. BMJ Case Rep. 2014 Feb;2014 :pii: bcr2013203056.
    PubMed ID: 24518395
  • Ye Z, Vasco DA, Carter TC, Brilliant MH, Schrodi SJ, Shukla SK. Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections. Front Genet. 2014 May;5 :125.
    PubMed ID: 24847357
  • Wilk M, McAllister J, Cooper R, Dubis A, Patitucci T, Summerfelt P, Anderson JL, Stepien K, Costakos D, Connor T, Wirostko W, Chiang P, Dubra A, Curcio C, Brilliant MH, Summers C, Carroll J. Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2014 May;55(7):4186-98.
    PubMed ID: 24845642
  • Loomis S, Kang J, Weinreb R, Yaspan B, Cooke Bailey J, Gaasterland D, Gaasterland T, Lee R, Lichter P, Budenz D, Liu Y, Realini T, Friedman D, McCarty CA, Moroi S, Olson L, Schuman J, Singh K, Vollrath D, Wollstein G, Zack D, Brilliant MH, Sit A, Christen W, Fingert J, Kraft P, Zhang K, Allingham R, Pericak-Vance MA, Richards J, Hauser MA, Haines J, Pasquale L, Wiggs J. Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. OPHTHALMOLOGY. 2014 Feb;121(2):508-16.
    PubMed ID: 24572674
  • Cronin RM, Field JR, Bradford Y, Shaffer CM, Carroll RJ, Mosley JD, Bastarache L, Edwards TL, Hebbring SJ, Lin S, Hindorff LA, Crane PK, Pendergrass SA, Ritchie MD, Crawford DC, Pathak J, Bielinski SJ, Carrell DS, Crosslin DR, Ledbetter DH, Carey DJ, Tromp G, Williams MS, Larson EB, Jarvik GP, Peissig PL, Brilliant MH, McCarty CA, Chute CG, Kullo IJ, Bottinger E, Chisholm R, Smith ME, Roden DM, Denny JC. Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. Front Genet. 2014 Aug 5;5 :250.
    PubMed ID: 25177340
  • Barrie ES, Weinshenker D, Verma A, Pendergrass SA, Lange LA, Ritchie MD, Wilson JG, Kuivaniemi H, Tromp G, Carey DJ, Gerhard GS, Brilliant MH, Hebbring SJ, Cubells JF, Pinsonneault JK, Norman GJ, Sadee W. Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity. Circ Res. 2014 Dec 5;115(12):1017-25.
    PubMed ID: 25326128
  • Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JN, Gibson J, Thorleifsson G, Janssen SF, Luo X, Ramdas WD, Vithana E, Nongpiur ME, Montgomery GW, Xu L, Mountain JE, Gharahkhani P, Lu Y, Amin N, Karssen LC, Sim KS, van Leeuwen EM, Iglesias AI, Verhoeven VJ, Hauser MA, Loon SC, Despriet DD, Nag A, Venturini C, Sanfilippo PG, Schillert A, Kang JH, Landers J, Jonasson F, Cree AJ, van Koolwijk LM, Rivadeneira F, Souzeau E, Jonsson V, Menon G, Weinreb RN, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP, NEIGHBORHOOD Consortium, Spector TD, Mirshahi A, Saw SM, Vingerling JR, Teo YY, Haines JL, Wolfs RC, Lemij HG, Tai ES, Jansonius NM, Jonas JB, Cheng CY, Aung T, Viswanathan AC, Klaver CC, Craig JE, Macgregor S, Mackey DA, Lotery AJ, Stefansson K, Bergen AA, Young TL, Wiggs JL, Pfeiffer N, Wong TY, Pasquale LR, Hewitt AW, van Duijn CM, Hammond CJ. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014 Sep 22;5 :4883.
    PubMed ID: 25241763
  • SEQC/MAQC-III Consortium. A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium. Nat. Biotechnol.. 2014 Sep;32(9):903-14.
    PubMed ID: 25150838
  • Bailey JN, Yaspan BL, Pasquale LR, Hauser MA, Kang JH, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kraft P, Lee RK, Lichter PR, Liu Y, McCarty CA, Moroi SE, Richards JE, Realini T, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Wollstein G, Zack DJ, Zhang K, Pericak-Vance MA, Allingham RR, Weinreb RN, Haines JL, Wiggs JL. Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma. Hum Genet. 2014 Oct;133(10):1319-30.
    PubMed ID: 25037249
  • Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, Brautbar A, Brilliant MH, Carrell DS, Connolly JJ, Crosslin DR, Doheny KF, Gallego CJ, Gottesman O, Kim DS, Leppig KA, Li R, Lin S, Manzi S, Mejia AR, Pacheco JA, Pan V, Pathak J, Perry CL, Peterson JF, Prows CA, Ralston J, Rasmussen LV, Ritchie MD, Sadhasivam S, Scott SA, Smith M, Vega A, Vinks AA, Volpi S, Wolf WA, Bottinger E, Chisholm RL, Chute CG, Haines JL, Harley JB, Keating B, Holm IA, Kullo IJ, Jarvik GP, Larson EB, Manolio T, McCarty CA, Nickerson DA, Scherer SE, Williams MS, Roden DM, Denny JC. Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther. 2014 Oct;96(4):482-9.
    PubMed ID: 24960519
  • Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA, Burke W, eMERGE Act-ROR Committee and CERC Committee. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014 Jun 5;94(6):818-26.
    PubMed ID: 24814192
  • McCarty CA, Huggins W, Aiello AE, Bilder RM, Hariri A, Jernigan TL, Newman E, Sanghera DK, Strauman TJ, Zeng Y, Ramos EM, Junkins HA, PhenX RISING network. PhenX RISING: real world implementation and sharing of PhenX measures. BMC Med Genomics. 2014 Mar 20;7 :16.
    PubMed ID: 24650325
  • Maenner M, Baker M, Broman KW, Tian J, Barnes J, Atkins A, McPherson EW, Hong J, Brilliant MH, Mailick M. FMR1 CGG expansions: Prevalence and sex ratios. Am J Med Genet B Neuropsychiatr Genet. 2013 Jul;162(5):466-73.
    PubMed ID: 23740716
  • Gottesman O, Kuivaniemi H, Tromp G, Faucett W, Li R, Manolio T, Sanderson S, Kannry J, Zinberg R, Basford M, Brilliant MH, Carey D, Chisholm R, Chute CG, Connolly J, Crosslin D, Denny J, Gallego C, Haines J, Hakonarson H, Harley J, Jarvik G, Kohane I, Kullo IJ, Larson EB, McCarty C, Ritchie MD, Roden DM, Smith M, Bottinger E, Williams M, The eMerge Network, Peissig P. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. GENETICS IN MEDICINE. 2013 Oct;15(10):761-71.
    PubMed ID: 23743551
  • Hebbring S, Slager S, Epperla N, Mazza JJ, Ye Z, Zhou Z, Achenbach S, Vasco DA, Call T, Rabe K, Kay NE, Caporaso NE, Lanasa M, Camp N, Strom S, Goldin L, Cerhan J, Brilliant MH, Schrodi SJ. Genetic evidence of PTPN22 effects on chronic lymphocytic leukemia. BLOOD. 2013 Jan;121(1):237-8.
    PubMed ID: 23287625
  • Hebbring S, Schrodi SJ, Ye Z, Zhou Z, Page D, Brilliant MH. A PheWAS approach in studying HLA-DRB1*1501 GENES AND IMMUNITY. 2013 Apr;14(3):187-91.
    PubMed ID: 23392276
  • Hartzler A, McCarty CA, Rasmussen LV, Williams M, Brilliant MH, Bowton E, Clayton EW, Faucett W, Ferryman K, Field J, Fullerton SM, Horowitz C, Koenig BA, McCormick J, Ralston J, Sanderson S, Smith M, Trinidad S. Stakeholder engagement: a key component of integrating genomic information into electronic health records. GENETICS IN MEDICINE. 2013 Oct;15(10):792-801.
    PubMed ID: 24030437
  • Manolio T, Chisholm R, Ozenberger B, Roden DM, Williams M, Wilson R, Bick D, Bottinger E, Brilliant MH, Eng C, Frazer K, Korf B, Ledbetter DH, Lupski J, Marsh C, Mrazek D, Murray M, O'Donnell P, Rader DJ, Relling M, Shuldiner A, Valle D, Weinshiboum R, Green E, Ginsburg G. Implementing genomic medicine in the clinic: the future is here. GENETICS IN MEDICINE. 2013 Apr;15(4):258-67.
    PubMed ID: 23306799
  • Pasquale L, Loomis S, Weinreb R, Kang J, Yaspan B, Bailey J, Gaasterland D, Gaasterland T, Lee R, Scott WK, Lichter P, Budenz D, Liu Y, Realini T, Friedman D, McCarty CA, Moroi S, Olson L, Schuman J, Singh K, Vollrath D, Wollstein G, Zack D, Brilliant MH, Sit A, Christen W, Fingert J, Kraft P, Zhang K, Allingham R, Pericak-Vance MA, Richards J, Hauser MA, Haines J, Wiggs J. Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States. MOLECULAR VISION. 2013 Jul;19 :1471-81.
    PubMed ID: 23869166
  • Denny J, Bastarache L, Ritchie MD, Carroll R, Zink R, Mosley J, Field J, Pulley JM, Ramirez A, Bowton E, Basford M, Carrell D, Peissig PL, Kho A, Pacheco J, Rasmussen LV, Crosslin D, Crane P, Pathak J, Bielinski S, Pendergrass S, Xu H, Hindorff L, Li R, Manolio T, Chute CG, Chisholm R, Larson EB, Jarvik G, Brilliant MH, McCarty CA, Kullo IJ, Haines J, Crawford D, Masys DR, Roden DM. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. NATURE BIOTECHNOLOGY. 2013 Nov;31(12):1102-1111.
    PubMed ID: 24270849
  • Glurich IE, Acharya A, Shukla SK, Nycz G, Brilliant MH. The oral-systemic personalized medicine model at Marshfield Clinic. ORAL DISEASES. 2013 Jan;19(1):1-17.
    PubMed ID: 22458294
  • Zhou Z, He M, Brilliant M, Brautbar A, Miller A, Weichelt B, Lin S. PS3-2: Informatics Challenges to Implement Pharmacogenetics to Clinical Practice. Clin Med Res. 2013 Sep;11(3):147-148.
  • Foth WS, Waudby CJ, Brilliant MH. Certificates of Confidentiality and the Marshfield Clinic’s Personalized Medicine Research Project Virtual Mentor. 2012 Aug;14(8):653-656.
  • Tuli AM, Valenzuela R, 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. 2012 Dec;79(6):875-8.
    PubMed ID: 23063908
  • Ito S, Nakanishi Y, Valenzuela RK, Brilliant MH, Kolbe L, Wakamatsu K. 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. 2011 Aug;24(4):605-13.
    PubMed ID: 21535429
  • Valenzuela RK, Ito S, Wakamatsu K, Brilliant MH. Prediction Model Validation: Normal Human Pigmentation Variation. J Forensic Res. 2011 Oct 29;2 :139-151.
  • Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan CC, Bernardini IM, Sergeev YV, Dolinska MB, Alur RP, Brilliant MH, Gahl WA, Brooks BP. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. J Clin Invest. 2011 Oct;121(10):3914-23.
    PubMed ID: 21968110
  • Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant MH, 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. 2010 Aug;5(8):pii: e12278.
    PubMed ID: 20808828
  • 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, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC. Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. AMERICAN JOURNAL OF HUMAN GENETICS. 2010 Feb;86(2):148-60.
    PubMed ID: 20137774
  • Valenzuela RK, Henderson MS, Walsh MH, Garrison NA, Kelch JT, Cohen-Barak O, Erickson DT, Meaney JF, Walsh BJ, Cheng KC, Ito S, Wakamatsu K, Frudakis T, Brilliant MH. Predicting phenotype from genotype: normal pigmentation. JOURNAL OF FORENSIC SCIENCES. 2010 Mar;55(2):315-22.
    PubMed ID: 20158590
  • 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 Res. 2009 Oct;22(5):645-7.
    PubMed ID: 19397757
  • Carmenisch TD, Brilliant MH, Segal DJ. Critical parameters for genome editing using zinc finger nucleases. Mini Rev Med Chem. 2008 Jun;8(7):669-76.
    PubMed ID: 18537722
  • Brilliant MH. Oculocutaneous Albinism Type 4. In: Pagon RA, Bird TC, Dolan CR, Stephens K, GeneReviews [Internet:www.geneclinics.org] Seattle, WA;, University of Washington:, 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. 2007 Mar;35(3):358-67.
    PubMed ID: 17309816
  • Brilliant MH. Molecular Regulation of Melanin Formation: Melanosome Transporter Proteins. In: Nordlund JJ, Boissy RE, Hearing VJ, King RA, Oetting WS, Ortonne JP, The Pigmentary System: Physiology and Pathology. Hoboken, NJ;, Wiley-Blackwell:, 2006
  • Yi Z, Cohen-Barak O, Hagiwara N, Kingsley PD, Fuchs DA, Erickson DT, Epner EM, Pallis J, Brilliant MH. Sox6 directly silences epsilon globin expression in definitive erythropoiesis. PLoS Genetics. 2006 Feb;2(2):e14.
    PubMed ID: 16462943
  • Ikinciogullari A, Tekin M, Dogu F, Reisli I, Tanir G, Yi Z, Garrison NA, Brilliant MH, Babacan E. Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. EUROPEAN JOURNAL OF PEDIATRICS. 2005 Mar;164(3):177-9.
    PubMed ID: 15565285
  • Odeh H, Hagiwara N, Skynner MJ, 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 AND NEURO-OTOLOGY. 2004 Sep;9(5):303-14.
    PubMed ID: 15347914
  • Garrison NA, Yi Z, Cohen-Barak O, Huizing M, Hartnell LM, Gahl W, Brilliant MH. P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. JOURNAL OF MEDICAL GENETICS. 2004 Jun;41(6):e86.
    PubMed ID: 15173252
  • Yi Z, Garrison NA, 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. 2003 Jan;72(1):62-72.
    PubMed ID: 12469324
  • 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. 2003 Feb;254(1):93-101.
    PubMed ID: 12606284
  • Cohen-Barak O, Yi Z, Hagiwara N, Monzen K, Komuro I, Brilliant MH. Sox6 regulation of cardiac myocyte development. NUCLEIC ACIDS RESEARCH. 2003 Oct;15(31):5941-8.
    PubMed ID: 14530442
  • Brilliant MH. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. 2001 Apr;14(2):86-93.
    PubMed ID: 11310796
  • 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. 2001 Nov;69(5):981-8.
    PubMed ID: 11574907
  • Cohen-Barak O, Hagiwara N, Arlt MF, Horton J, Brilliant MH. Cloning, characterization and chromosome mapping of the human SOX6 gene. GENE. 2001 Mar;265(1-2):157-64.
    PubMed ID: 11255018
  • 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. Proc Natl Acad Sci U S A. 2000 Apr;97(8):4180-5.
    PubMed ID: 10760285
  • Puri N, Gardner JM, Brilliant MH. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2000 Oct;115(4):607-13.
    PubMed ID: 10998131
  • Lehman AL, Silvers WK, Puri N, Wakamatsu K, Ito S, Brilliant MH. The underwhite (uw) locus acts autonomously and reduces the production of melanin. JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2000 Oct;115(4):601-6.
    PubMed ID: 10998130
  • Hagiwara N, Klewer S, Samson R, Lyon MF, Erickson D, Brilliant MH. An x-ray induced mutation in the mouse associated with myopathy, heart block and disruption of the Sox6 gene. Proc Natl Acad Sci USA. 2000;97 :4180-4185.
  • Orlow SJ, Brilliant MH. The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. EXPERIMENTAL EYE RESEARCH. 1999 Feb;68(2):147-54.
    PubMed ID: 10068480
  • Brilliant MH, Barsh GS. Genes Regulating the Type of Melanin Pigment Produced by the Melanocyte In: Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne JP, The Pigmentary System: Physiology and Pathophysiology New York, NY;, Oxford University Press:, 1998
  • Oetting WS, Gardner JM, Fryer JP, Ching A, Durham-Pierre D, King R, Brilliant MH. Mutations of the human P gene associated with Type II Oculocutaneous Albinism (OCA2). HUMAN MUTATION. 1998;12 :434.
  • 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. Proc Natl Acad Sci U S A.. 1998 Aug;95(16):9439-41.
    PubMed ID: 9689098
  • Sweet HO, Brilliant MH, Cook SA, Johnson KR, Davisson MT. A new allelic series for the underwhite gene on mouse chromosome 15. JOURNAL OF HEREDITY. 1998 Nov;89(6):546-51.
    PubMed ID: 9864865
  • Wildenberg SC, Fryer JP, Gardner JM, Oetting WS, Brilliant MH, King R. Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. JOURNAL OF INVESTIGATIVE DERMATOLOGY. 1998 May;110(5):777-81.
    PubMed ID: 9579545
  • Gardner JM, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT, Puri N, Finger JN, Hagiwara N, Lehman AL, Gales TL, Bayer ME, King R, Brilliant MH. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A. 1997 Aug;94(17):9238-43.
    PubMed ID: 9256466
  • Homanics GE, DeLorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, Krasowski MD, Rick CE, Korpi ER, Makelä R, Brilliant MH, Hagiwara N, Ferguson C, Snyder K, Olsen RW. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci U S A. 1997 Apr;94(8):4143-8.
    PubMed ID: 9108119
  • Hubbard FC, Goodrow TL, Liu SC, Brilliant MH, Basset P, Mains RE, Klein-Szanto A. Expression of PACE4 in chemically induced carcinomas is associated with spindle cell tumor conversion and increased invasive ability. CANCER RESEARCH. 1997 Dec;57(23):5226-31.
    PubMed ID: 9393739
  • Puri N, Durham-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH. Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. HUMAN GENETICS. 1997 Oct;100(5-6):651-6.
    PubMed ID: 9341887
  • Lund PM, Puri N, Durham-Pierre D, King R, Brilliant MH. Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. JOURNAL OF MEDICAL GENETICS. 1997 Sep;34(9):733-5.
    PubMed ID: 9321758
  • Brilliant MH, Williams RW, Holdener BC, Angel JM, Stern M, Hunter K. Mouse chromosome 7. MAMMALIAN GENOME. 1997;7(Spec No):S121-42.
    PubMed ID: 9233390
  • Oetting WS, Brilliant MH, King R. The clinical spectrum of albinism in humans. Mol Med Today. 1996 Aug;2(8):330-5.
    PubMed ID: 8796918
  • Durham-Pierre D, King R, Naber JM, Laken S, Brilliant MH. Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans. HUMAN MUTATION. 1996;7(4):370-3.
    PubMed ID: 8723691
  • Oakey RJ, Keiper NM, Ching A, Brilliant MH. Molecular analysis of the cDNAs encoded by the pun and pJ alleles of the pink-eyed dilution locus. MAMMALIAN GENOME. 1996 Apr;7(4):315-6.
    PubMed ID: 8661705
  • Brilliant MH, Williams RW, Holdener BC, Angel JM. Encyclopedia of the mouse genome V. Mouse chromosome 7. MAMMALIAN GENOME. 1996;6(Spec No):S135-50.
    PubMed ID: 8800761
  • Gahl W, Potterf B, Durham-Pierre D, Brilliant MH, Hearing VJ. Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes. Pigment Cell Res. 1995 Oct;8(5):229-33.
    PubMed ID: 8789196
  • Brilliant MH, Gondo Y, Magliocco AM. One-dimensional genome scanning: identification of the basis of a mouse mutation and identification of genomic changes in ovarian carcinoma. ELECTROPHORESIS. 1995 Feb;16(2):163-7.
    PubMed ID: 7774555
  • Gondo Y, Brilliant MH. Theoretical basis of one-dimensional genome scanning: a direct method to identify the site of a mutation. ELECTROPHORESIS. 1995 Feb;16(2):174-8.
    PubMed ID: 7774557
  • Greger V, Knoll JH, Woolf E, Glatt K, Tyndale RF, DeLorey TM, Olsen RW, Tobin AJ, Sikela JM, Nakatsu Y, Brilliant MH, Whiting PJ, Lalande M. 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. 1995 Mar;26(2):258-64.
    PubMed ID: 7601451
  • Rosemblat S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant MH, Orlow SJ. Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci U S A. 1994 Dec;91(25):12071-5.
    PubMed ID: 7991586
  • Brilliant MH, King R, Francke U, Schuffenhauer S, Meitinger T, Gardner JM, Durham-Pierre D, Nakatsu Y. The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. Pigment Cell Res. 1994 Dec;7(6):398-402.
    PubMed ID: 7761348
  • Brilliant MH, Ching A, Nakatsu Y, Eicher EM. 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. 1994 Sep;138(1):203-11.
    PubMed ID: 8001787
  • Magliocco AM, Brilliant MH. Genome scanning detects genetic alterations in human ovarian carcinoma. HUMAN MUTATION. 1994;4(2):141-9.
    PubMed ID: 7981718
  • Brilliant MH, Williams RW, Conti CJ, Angel JM, Oakey RJ, Holdener BC. Mouse chromosome 7. MAMMALIAN GENOME. 1994;5(Spec No):S104-23.
    PubMed ID: 7719000
  • Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. NATURE GENETICS. 1994 Jun;7(2):176-9.
    PubMed ID: 7920637
  • Gondo Y, Gardner JM, Nakatsu Y, Durham-Pierre D, Deveau SA, Kuper C, Brilliant MH. High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation. Proc Natl Acad Sci U S A. 1993 Jan;90(1):297-301.
    PubMed ID: 8419934
  • Chang-Yeh A, Mold DE, Brilliant MH, Huang RC. The mouse intracisternal A particle-promoted placental gene retrotransposition is mouse-strain-specific. Proc Natl Acad Sci U S A. 1993 Jan;90(1):292-6.
    PubMed ID: 7678343
  • Nakatsu Y, Tyndale RF, DeLorey TM, Durham-Pierre D, Gardner JM, McDanel HJ, Nguyen Q, Wagstaff J, Lalande M, Sikela JM, Olsen RW, Tobin AJ, Brilliant MH. A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. NATURE. 1993 Jul;364(6436):448-50.
    PubMed ID: 8392662
  • Lyon MF, Gondo Y, Gardner JM, Nakatsu Y, Eicher EM, Brilliant MH. Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci U S A. 1992 Aug;89(15):6968-72.
    PubMed ID: 1495987
  • Brilliant MH, Gondo Y, Eicher EM. The mouse pink-eyed unstable mutation: a DNA duplication revealed by genome scanning. Pigment Cell Res. 1992;Suppl 2 :271-4.
    PubMed ID: 1409429
  • Brilliant MH, Gondo Y. Molecular characterization of the p(un) allele of the mouse pink-eyed dilution locus. Pigment Cell Res. 1992 Nov;5(5 Pt 2):271-3.
    PubMed ID: 1292008
  • Banerjee SA, Hoppe P, Brilliant MH, Chikaraishi DM. 5' flanking sequences of the rat tyrosine hydroxylase gene target accurate tissue-specific, developmental, and transsynaptic expression in transgenic mice. JOURNAL OF NEUROSCIENCE. 1992 Nov;12(11):4460-7.
    PubMed ID: 1359037
  • Nakatsu Y, Gondo Y, Brilliant MH. The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region. MAMMALIAN GENOME. 1992;2(1):69-71.
    PubMed ID: 1347469
  • Brilliant MH. 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. 1992;3(4):187-91.
    PubMed ID: 1611213
  • 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. 1992 Aug;257(5073):1121-4.
    PubMed ID: 1509264
  • Fung BP, Brilliant MH, Chikaraishi DM. Brain-specific polyA- transcripts are detected in polyA+ RNA: do complex polyA- brain RNAs really exist? JOURNAL OF NEUROSCIENCE. 1991 Mar;11(3):701-8.
    PubMed ID: 1705966
  • Brilliant MH, Gondo Y, Eicher EM. Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. SCIENCE. 1991 Apr;252(5005):566-9.
    PubMed ID: 1673574
  • Brilliant MH, Szabo G, Katarova Z, Kozak CA, Glaser TM, Greenspan RJ, Housman DE. Sequences homologous to glutamic acid decarboxylase (GAD) cDNA are present on mouse chromosomes 2 and 10. GENOMICS. 1990 Jan;6(1):115-22.
    PubMed ID: 1968040
  • Brilliant MH, Niemann MM, Eicher EM. Murine tyrosine hydroxylase maps to the distal end of chromosome 7 within a region conserved in mouse and man. JOURNAL OF NEUROGENETICS. 1987 Aug;4(5):259-66.
    PubMed ID: 2889817
  • Brilliant MH, Sueoka N, Chikaraishi DM. 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. 1984 Oct;4(10):2187-97.
    PubMed ID: 6209557
  • Chikaraishi DM, Brilliant MH, Lewis EJ. Cloning and characterization of rat-brain-specific transcripts: rare, brain-specific transcripts and tyrosine hydroxylase. Cold Spring Harb Symp Quant Biol. 1983;48(Pt 1):309-18.
    PubMed ID: 6144414