SEARCH

SEARCH BY CITATION

Cited in:

CrossRef

This article has been cited by:

  1. 1
    E. Bragin, E. A. Chatzimichali, C. F. Wright, M. E. Hurles, H. V. Firth, A. P. Bevan, G. J. Swaminathan, DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation, Nucleic Acids Research, 2014, 42, D1, D993

    CrossRef

  2. 2
    Jonas Ibn-Salem, Sebastian Köhler, Michael I Love, Ho-Ryun Chung, Ni Huang, Matthew E Hurles, Melissa Haendel, Nicole L Washington, Damian Smedley, Christopher J Mungall, Suzanna E Lewis, Claus-Eric Ott, Sebastian Bauer, Paul N Schofield, Stefan Mundlos, Malte Spielmann, Peter N Robinson, Deletions of chromosomal regulatory boundaries are associated with congenital disease, Genome Biology, 2014, 15, 9, 423

    CrossRef

  3. 3
    D. G. MacArthur, T. A. Manolio, D. P. Dimmock, H. L. Rehm, J. Shendure, G. R. Abecasis, D. R. Adams, R. B. Altman, S. E. Antonarakis, E. A. Ashley, J. C. Barrett, L. G. Biesecker, D. F. Conrad, G. M. Cooper, N. J. Cox, M. J. Daly, M. B. Gerstein, D. B. Goldstein, J. N. Hirschhorn, S. M. Leal, L. A. Pennacchio, J. A. Stamatoyannopoulos, S. R. Sunyaev, D. Valle, B. F. Voight, W. Winckler, C. Gunter, Guidelines for investigating causality of sequence variants in human disease, Nature, 2014, 508, 7497, 469

    CrossRef

  4. 4
    A. McLysaght, T. Makino, H. M. Grayton, M. Tropeano, K. J. Mitchell, E. Vassos, D. A. Collier, Ohnologs are overrepresented in pathogenic copy number mutations, Proceedings of the National Academy of Sciences, 2014, 111, 1, 361

    CrossRef

  5. 5
    Anneke T. Vulto-van Silfhout, Conny M.A. van Ravenswaaij, Jayne Y. Hehir-Kwa, Eugène T.P. Verwiel, Rita Dirks, Steven van Vooren, Albert Schinzel, Bert B.A. de Vries, Nicole de Leeuw, An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations, European Journal of Medical Genetics, 2013, 56, 9, 471

    CrossRef

  6. You have free access to this content6
    Gareth Baynam, Mark Walters, Peter Claes, Stefanie Kung, Peter LeSouef, Hugh Dawkins, David Gillett, Jack Goldblatt, The Facial Evolution: Looking Backward and Moving Forward, Human Mutation, 2013, 34, 1
  7. 7
    Tallulah Andrews, Caleb Webber, Characterizing epistatic hotspots of human disease, BMC Proceedings, 2012, 6, Suppl 6, O12

    CrossRef

  8. 8
    G. J. Swaminathan, E. Bragin, E. A. Chatzimichali, M. Corpas, A. P. Bevan, C. F. Wright, N. P. Carter, M. E. Hurles, H. V. Firth, DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders, Human Molecular Genetics, 2012, 21, R1, R37

    CrossRef

  9. You have free access to this content9
    Peter N. Robinson, Deep phenotyping for precision medicine, Human Mutation, 2012, 33, 5