Brook, David - University of Nottingham

个人简介

University of Manchester BSc 1979, University of Edinburgh PhD 1983, University of Wales College of Medicine Post-Doc 1982 - 1989, Massachusetts Institute of Technology Post-Doc 1989 - 1992, University of Nottingham Senior Lecturer 1992 - 1995, Professor 1995 - present, Head of the Institute of Genetics 2000 - 2003, Head of the School of Biology 2003 - 2008.

近期论文

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GHOSH TK, BROOK JD and WILSDON A, 2017. T-Box Genes in Human Development and Disease. Current topics in developmental biology. 122, 383-415 SEDEHIZADEH S, BROOK JD and MADDISON P, 2017. Body composition and clinical outcome measures in patients with myotonic dystrophy type 1. Neuromuscular disorders : NMD. (In Press.) SIFRIM A, HITZ MP, WILSDON A, BRECKPOT J, TURKI SH, THIENPONT B, MCRAE J, FITZGERALD TW, SINGH T, SWAMINATHAN GJ, PRIGMORE E, RAJAN D, ABDUL-KHALIQ H, BANKA S, BAUER UM, BENTHAM J, BERGER F, BHATTACHARYA S, BU'LOCK F, CANHAM N, COLGIU IG, COSGROVE C, COX H, DAEHNERT I, DALY A, DANESH J, FRYER A, GEWILLIG M, HOBSON E, HOFF K, HOMFRAY T, , KAHLERT AK, KETLEY A, KRAMER HH, LACHLAN K, LAMPE AK, LOUW JJ, MANICKARA AK, MANASE D, MCCARTHY KP, METCALFE K, MOORE C, NEWBURY-ECOB R, OMER SO, OUWEHAND WH, PARK SM, PARKER MJ, PICKARDT T, POLLARD MO, ROBERT L, ROBERTS DJ, SAMBROOK J, SETCHFIELD K, STILLER B, THORNBOROUGH C, TOKA O, WATKINS H, WILLIAMS D, WRIGHT M, MITAL S, DAUBENEY PE, KEAVNEY B, GOODSHIP J, , ABU-SULAIMAN RM, KLAASSEN S, WRIGHT CF, FIRTH HV, BARRETT JC, DEVRIENDT K, FITZPATRICK DR, BROOK JD, and HURLES ME, 2016. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature genetics. 48(9), 1060-5 SEDEHIZADEH, SAAM, BROOK, J. DAVID and MADDISON, PAUL, 2016. CORRELATION OF CLINICAL AND MOLECULAR FEATURES IN MYOTONIC DYSTROPHY TYPE 1 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 87(12), HANCHARD, NEIL A., SWAMINATHAN, SHANKER, BUCASAS, KRISTINE, FURTHNER, DIETER, FERNBACH, SUSAN, AZAMIAN, MAHSHID S., WANG, XUEQING, LEWIN, MARK, TOWBIN, JEFFREY A., D'ALESSANDRO, LISA C. A., MORRIS, SHAINE A., DREYER, WILLIAM, DENFIELD, SUSAN, AYRES, NANCY A., FRANKLIN, WAYNE J., JUSTINO, HENRI, LANTIN-HERMOSO, M. REGINA, OCAMPO, ELENA C., SANTOS, ALEXIA B., PAREKH, DHAVAL, MOODIE, DOUGLAS, JEEWA, AAMIR, LAWRENCE, EMILY, ALLEN, HUGH D., PENNY, DANIEL J., FRASER, CHARLES D., LUPSKI, JAMES R., POPOOLA, MOJISOLA, WADHWA, LALITA, BROOK, J. DAVID, BU'LOCK, FRANCES A., BHATTACHARYA, SHOUMO, LALANI, SEEMA R., ZENDER, GLORIA A., FITZGERALD-BUTT, SARA M., BOWMAN, JESSICA, CORSMEIER, DON, WHITE, PETER, LECERF, KELSEY, ZAPATA, GLADYS, HERNANDEZ, PATRICIA, GOODSHIP, JUDITH A., GARG, VIDU, KEAVNEY, BERNARD D., LEAL, SUZANNE M., CORDELL, HEATHER J., BELMONT, JOHN W. and MCBRIDE, KIM L., 2016. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20 HUMAN MOLECULAR GENETICS. 25(11), 2331-2341 KETLEY A, CHEN CZ, LI X, ARYA S, ROBINSON TE, GRANADOS-RIVERON J, UDOSEN I, MORRIS GE, HOLT I, FURLING D, CHAOUCH S, HAWORTH B, SOUTHALL N, SHINN P, ZHENG W, AUSTIN CP, HAYES CJ and BROOK JD, 2014. High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines. Human molecular genetics. 23(6), 1551-62 AL TURKI S, MANICKARAJ AK, MERCER CL, GERETY SS, HITZ M, LINDSAY S, D'ALESSANDRO LCA, SWAMINATHAN GJ, BENTHAM J, ARNDT A, LOW J, BRECKPOT J, GEWILLIG M, THIENPONT B, ABDUL-KHALIQ H, HARNACK C, HOFF K, KRAMER H, SCHUBERT S, SIEBERT R, TOKA O, COSGROVE C, WATKINS H, LUCASSEN AM, O'KELLY IM, SALMON AP, BU'LOCK FA, GRANADOS-RIVERON J, SETCHFIELD K, THORNBOROUGH C, BROOK JD, MULDER B, KLAASSEN S, BHATTACHARYA S, DEVRIENDT K, FITZPATRICK DF, UK10K CONSORTIUM, WILSON DI, MITAL S and HURLES ME, 2014. Rare variants in NR2F2 cause congenital heart defects in humans. American journal of human genetics. 94(4), 574-85 CORDELL HJ, T?PF A, MAMASOULA C, POSTMA AV, BENTHAM J, ZELENIKA D, HEATH S, BLUE G, COSGROVE C, GRANADOS RIVERON J, DARLAY R, SOEMEDI R, WILSON IJ, AYERS KL, RAHMAN TJ, HALL D, MULDER BJM, ZWINDERMAN AH, VAN ENGELEN K, BROOK JD, SETCHFIELD K, BU'LOCK FA, THORNBOROUGH C, O'SULLIVAN J, STUART AG, PARSONS J, BHATTACHARYA S, WINLAW D, MITAL S, GEWILLIG M, BRECKPOT J, DEVRIENDT K, MOORMAN AFM, RAUCH A, LATHROP GM, KEAVNEY BD and GOODSHIP JA, 2013. Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Human molecular genetics. 22(7), 1473-81 KETLEY A, WARREN A, HOLMES E, GERING M, ABOOBAKER AA and BROOK JD, 2013. The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development. PloS one. 8(6), e65170 CORDELL, H.J., BENTHAM, J., TOPF, A., ZELENIKA, D., HEATH, S., MAMASOULA, C., COSGROVE, C., BLUE, G., GRANADOS-RIVERON, J., SETCHFIELD, K., THORNBOROUGH, C., BRECKPOT, J., SOEMEDI, R., MARTIN, R., RAHMAN, T.J., HALL, D., VAN ENGELEN, K., MOORMAN, A.F.M., ZWINDERMAN, A.H., BARNETT, P., KOOPMANN, T.T., ADRIAENS, M.E, VARRO, A., GEORGE, A.L., DOS REMEDIOS, C., BISHOPRIC, N.H., BEZZINA, C.R., O'SULLIVAN, J., GEWILLIG, M., BU'LOCK, F.A., WINLAW, D., BHATTACHARYA, S., DEVRIENDT, K., BROOK, J.D., MULDER, B.J.M., MITAL, S., POSTMA, A.V., LATHROP, G.M., FARRALL, M., GOODSHIP, J.A. and KEAVNEY, B.D., 2013. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 Nature Genetics. 45(7), 822-824 MAMASOULA C, PRENTICE RR, PIERSCIONEK T, PANGILINAN F, MILLS JL, DRUSCHEL C, PASS K, RUSSELL MW, HALL D, T?PF A, BROWN DL, ZELENIKA D, BENTHAM J, COSGROVE C, BHATTACHARYA S, RIVERON JG, SETCHFIELD K, BROOK JD, BU'LOCK FA, THORNBOROUGH C, RAHMAN TJ, DOZA JP, TAN HL, O'SULLIVAN J, STUART AG, BLUE G, WINLAW D, POSTMA AV, MULDER BJM, ZWINDERMAN AH, VAN ENGELEN K, MOORMAN AFM, RAUCH A, GEWILLIG M, BRECKPOT J, DEVRIENDT K, LATHROP GM, FARRALL M, GOODSHIP JA, CORDELL HJ, BRODY LC and KEAVNEY BD, 2013. Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls. Circulation. Cardiovascular genetics. 6(4), 347-53 PALOMINO DOZA J, TOPF A, BENTHAM J, BHATTACHARYA S, COSGROVE C, BROOK JD, GRANADOS-RIVERON J, BU'LOCK FA, O'SULLIVAN J, STUART AG, PARSONS J, RELTON C, GOODSHIP J, HENDERSON DJ and KEAVNEY B, 2013. Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot. BMC genetics. 14, 57 SOEMEDI R, TOPF A, WILSON IJ, DARLAY R, RAHMAN T, GLEN E, HALL D, HUANG N, BENTHAM J, BHATTACHARYA S, COSGROVE C, BROOK JD, GRANADOS-RIVERON J, SETCHFIELD K, BU'LOCK F, THORNBOROUGH C, DEVRIENDT K, BRECKPOT J, HOFBECK M, LATHROP M, RAUCH A, BLUE GM, WINLAW DS, HURLES M, SANTIBANEZ-KOREF M, CORDELL HJ, GOODSHIP JA and KEAVNEY BD, 2012. Phenotype-Specific Effect Of Chromosome 1Q21.1 Rearrangements And Gja5 Duplications In 2436 Congenital Heart Disease Patients And 6760 Controls. Human Molecular Genetics. 21(7), 1513-1520 SOEMEDI R, WILSON IJ, BENTHAM J, DARLAY R, T?PF A, ZELENIKA D, COSGROVE C, SETCHFIELD K, THORNBOROUGH C, GRANADOS-RIVERON J, BLUE GM, BRECKPOT J, HELLENS S, ZWOLINKSKI S, GLEN E, MAMASOULA C, RAHMAN TJ, HALL D, RAUCH A, DEVRIENDT K, GEWILLIG M, O' SULLIVAN J, WINLAW DS, BU'LOCK F, BROOK JD, BHATTACHARYA S, LATHROP M, SANTIBANEZ-KOREF M, CORDELL HJ, GOODSHIP JA and KEAVNEY BD, 2012. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. American journal of human genetics. 91(3), 489-501