The Deciphering Developmental Disorders (DDD) study

被引:128
作者
Firth, Helen V. [1 ,2 ]
Wright, Caroline F. [2 ]
机构
[1] Cambridge Univ Hosp Fdn Trust, Dept Med Genet, Cambridge, England
[2] Wellcome Trust Sanger Inst, Cambridge, England
基金
英国惠康基金;
关键词
PHENOTYPE;
D O I
10.1111/j.1469-8749.2011.04032.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:702 / 703
页数:2
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共 9 条
  • [1] A map of human genome variation from population-scale sequencing
    Altshuler, David
    Durbin, Richard M.
    Abecasis, Goncalo R.
    Bentley, David R.
    Chakravarti, Aravinda
    Clark, Andrew G.
    Collins, Francis S.
    De la Vega, Francisco M.
    Donnelly, Peter
    Egholm, Michael
    Flicek, Paul
    Gabriel, Stacey B.
    Gibbs, Richard A.
    Knoppers, Bartha M.
    Lander, Eric S.
    Lehrach, Hans
    Mardis, Elaine R.
    McVean, Gil A.
    Nickerson, DebbieA.
    Peltonen, Leena
    Schafer, Alan J.
    Sherry, Stephen T.
    Wang, Jun
    Wilson, Richard K.
    Gibbs, Richard A.
    Deiros, David
    Metzker, Mike
    Muzny, Donna
    Reid, Jeff
    Wheeler, David
    Wang, Jun
    Li, Jingxiang
    Jian, Min
    Li, Guoqing
    Li, Ruiqiang
    Liang, Huiqing
    Tian, Geng
    Wang, Bo
    Wang, Jian
    Wang, Wei
    Yang, Huanming
    Zhang, Xiuqing
    Zheng, Huisong
    Lander, Eric S.
    Altshuler, David L.
    Ambrogio, Lauren
    Bloom, Toby
    Cibulskis, Kristian
    Fennell, Tim J.
    Gabriel, Stacey B.
    [J]. NATURE, 2010, 467 (7319) : 1061 - 1073
  • [2] The impact of consanguinity on neonatal and infant health
    Bittles, A. H.
    Black, M. L.
    [J]. EARLY HUMAN DEVELOPMENT, 2010, 86 (11) : 737 - 741
  • [3] DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
    Firth, Helen V.
    Richards, Shola M.
    Bevan, A. Paul
    Clayton, Stephen
    Corpas, Manuel
    Rajan, Diana
    Van Vooren, Steven
    Moreau, Yves
    Pettett, Roger M.
    Carter, Nigel P.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (04) : 524 - 533
  • [4] Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    Manning, Melanie
    Hudgins, Louanne
    [J]. GENETICS IN MEDICINE, 2010, 12 (11) : 742 - 745
  • [5] Massively parallel sequencing and rare disease
    Ng, Sarah B.
    Nickerson, Deborah A.
    Bamshad, Michael J.
    Shendure, Jay
    [J]. HUMAN MOLECULAR GENETICS, 2010, 19 : R119 - R124
  • [6] Rare Disease UK, IMPR LIV OPT RES VIS
  • [7] The Human Phenotype Ontology
    Robinson, P. N.
    Mundlos, S.
    [J]. CLINICAL GENETICS, 2010, 77 (06) : 525 - 534
  • [8] A de novo paradigm for mental retardation
    Vissers, Lisenka E. L. M.
    de Ligt, Joep
    Gilissen, Christian
    Janssen, Irene
    Steehouwer, Marloes
    de Vries, Petra
    van Lier, Bart
    Arts, Peer
    Wieskamp, Nienke
    del Rosario, Marisol
    van Bon, Bregje W. M.
    Hoischen, Alexander
    de Vries, Bert B. A.
    Brunner, Han G.
    Veltman, Joris A.
    [J]. NATURE GENETICS, 2010, 42 (12) : 1109 - +
  • [9] Managing incidental findings in human subjects research: Analysis and recommendations
    Wolf, Susan M.
    Lawrenz, Frances P.
    Nelson, Charles A.
    Kahn, Jeffrey P.
    Cho, Mildred K.
    Clayton, Ellen Wright
    Fletcher, Joel G.
    Georgieff, Michael K.
    Hammerschmidt, Dale
    Hudson, Kathy
    Illes, Judy
    Kapur, Vivek
    Keane, Moira A.
    Koenig, Barbara A.
    LeRoy, Bonnie S.
    McFarland, Elizabeth G.
    Paradise, Jordan
    Parker, Lisa S.
    Terry, Sharon F.
    Van Ness, Brian
    Wilfond, Benjamin S.
    [J]. JOURNAL OF LAW MEDICINE & ETHICS, 2008, 36 (02) : 219 - 248