Citations for
1AFND, ZSWIM6
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschké P, Garrigue A, de Saint Basile G, Kivuva E; DDD Study, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J.
Am J Hum Genet 101(6):995-1005. doi: 10.1016/j.ajhg.2017.10.009. Epub 2017 Nov 30. 2017
2AFND, ZSWIM6
Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis.
Smith JD, Hing AV, Clarke CM, Johnson NM, Perez FA, Park SS, Horst JA, Mecham B, Maves L, Nickerson DA; University of Washington Center for Mendelian Genomics, Cunningham ML.
Am J Hum Genet 95(2):235-40. doi: 10.1016/j.ajhg.2014.07.008. 2014