1 | AFND, ZSWIM6
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| A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
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| 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.
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| Am J Hum Genet 101(6):995-1005. doi: 10.1016/j.ajhg.2017.10.009. Epub 2017 Nov 30.
2017
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2 | AFND, ZSWIM6
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| Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis.
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| 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.
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| Am J Hum Genet 95(2):235-40. doi: 10.1016/j.ajhg.2014.07.008.
2014
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3 | ZSWIM6
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| Altered gene expression in the subdivisions of the amygdala of Fyn-deficient mice as revealed by laser capture microdissection and mKIAA cDNA array analysis.
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| Kai N, Iwase K, Imai K, Nakahira E, Soma M, Ohtsuka S, Yagi T, Kobayashi K, Koga H, Takiguchi M, Yuasa S.
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| Brain Res 1073-1074:60-70. Epub 2006 Jan 20.
2006
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4 | ANKRD36B, BCOR, BEND3, CACHD1, CHD8, CNNM4, DDX55, DHTKD1, EIF2C4, EPB41L5, EPG5, FAM160B1, GBA2, GPAM, GPR107, HERC4, KIAA1586, KIAA1609, KIF16B, MAGEE1, MAGI3, MED12L, MED12L, METTL14, MIER1, MOV10, NCKAP5L, NCOA5, PCDHB16, RNF213, SEMA4G, SFMBT2, SMURF1, TNRC6C, TRPM3, USP37, VAT1L, WDFY4, WDR19, WNK3, ZBTB26, ZNF532, ZPR1 ZNF319, ZSWIM5, ZSWIM6
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| Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O.
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| DNA Res 7(4):273-81. 2000
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