| 1 | NDCFL, POLR1A
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| POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
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| Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN.
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| Am J Hum Genet. 3 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014. Epub 2023 Apr 18. 2023
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| 2 | POLR1A
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| A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
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| Misceo D, Lirussi L, Strĝmme P, Sumathipala D, Guerin A, Wolf NI, Server A, Stensland M, Dalhus B, Tolun A, Kroes HY, Nyman TA, Nilsen HL, Frengen E.
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| Brain Mar 14:awad086. doi: 10.1093/brain/awad086. Epub ahead of print. 2023
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| 3 | ACCAL, POLR1A
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| Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A
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| Kara B, Köroğlu Ç, Peltonen K, Steinberg RC, Maraş Genç H, Hölttä-Vuori M, Güven A, Kanerva K, Kotil T, Solakoğlu S, Zhou Y, Olkkonen VM, Ikonen E, Laiho M, Tolun A.
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| Eur J Hum Genet. Feb;25(3):315-323. doi: 10.1038/ejhg.2016.183. Epub 2017 Jan 4. 2017
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| 4 | AFD3, POLR1A
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| Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
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| Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, König R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM.
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| Am J Hum Genet 96(5):765-74. doi: 10.1016/j.ajhg.2015.03.011. Epub 2015 Apr 23.
2015
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| 5 | POLR1A
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| Molecular cloning and characterization of the cDNA encoding the largest subunit of mouse RNA polymerase I.
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| Seither P, Coy JF, Pouska A, Grummt I.
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| Mol Gen Genet 255(2):180-6. 1997
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