| 1 | DYRK1A, MRD7
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| Dyrk1a Mutations Cause Undergrowth of Cortical Pyramidal Neurons via Dysregulated Growth Factor Signaling.
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| Levy JA, LaFlamme CW, Tsaprailis G, Crynen G, Page DT.
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| Biol Psychiatry. Sep 1;90(5):295-306. doi: 10.1016/j.biopsych.2021.01.012. Epub 2021 Apr 8. 2021
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| 2 | DYRK1A, MRD7
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| DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
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| Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Mohamed Saeed Mohamed Al Shamsi A, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR.
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| Genet Med. Dec;21(12):2755-2764. doi: 10.1038/s41436-019-0576-0. Epub 2019 Jul 2. Erratum in: Genet Med. 2020 Apr;22(4):821. 2019
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| 3 | DYRK1A, MRD7
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| The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
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| Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C.
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| J Med Genet 49(12):731-6. doi: 10.1136/jmedgenet-2012-101251. Epub 2012 Oct 25.
2012
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| 4 | DYRK1A, MRD7
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| Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
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| van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, Marcelis CL, de Leeuw N, Veltman JA, Brunner HG, de Vries BB.
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| Clin Genet 79(3):296-9. doi: 10.1111/j.1399-0004.2010.01544.x. No abstract available.
2011
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| 5 | DYRK1A, MRD7
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| Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
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| Mĝller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C, Ullmann R, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM.
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| Am J Hum Genet 82(5):1165-70. doi: 10.1016/j.ajhg.2008.03.001. Epub 2008 Apr 10.
2008
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