| 1 | EIEE54, HNRNPU
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| De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
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| Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study, Balasubramanian M.
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| Am J Med Genet A 173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25.
2017
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| 2 | EIEE54, HNRNPU
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| Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
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| Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y.
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| Am J Med Genet A 173(10):2680-2689. doi: 10.1002/ajmg.a.38388. Epub 2017 Aug 16.
2017
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| 3 | EIEE54, HNRNPU
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| Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
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| Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann APA, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D.
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| Hum Genet 136(7):821-834. doi: 10.1007/s00439-017-1795-6. Epub 2017 Apr 9.
2017
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| 4 | EIEE54, HNRNPU
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| De novo mutations in moderate or severe intellectual disability.
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| Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL.
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| PLoS Genet 10(10):e1004772. doi: 10.1371/journal.pgen.1004772. eCollection 2014 Oct.
2014
|