Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Genomics England Research Consortium, David A. Parry, Carol Anne Martin, Philip Greene, Joseph A. Marsh, J. C. Ambrose, P. Arumugam, E. L. Baple, M. Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, H. Brittain, M. J. Caulfield, G. C. Chan, C. E. H. Craig, L. C. Daugherty, A. de Burca, Andrew Devereau, G. ElgarR. E. Foulger, T. Fowler, P. Furió-Tarí, A. Giess, J. M. Hackett, D. Halai, A. Hamblin, S. Henderson, J. E. Holman, T. J. B. Hubbard, K. Ibáñez, R. Jackson, L. J. Jones, D Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, K. Lawson, S. E. A. Leigh, I. U. S. Leong, F. J. Lopez, F. Maleady-Crowe, J. Mason, E. M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A. C. Need, C. A. Odhams, A. Orioli, C. Patch, D. Perez-Gil, M. B. Pereira, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R. H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K. R. Smith, S. C. Smith, A. Sosinsky, W. Spooner, H. E. Stevens, A. Stuckey, R. Sultana, M. Tanguy, E. R. A. Thomas, S. R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S. A. Watters, M. J. Welland, E. Williams, K. Witkowska, S. M. Wood, M. Zarowiecki, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville-Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson

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Biochemistry, Genetics and Molecular Biology