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Rare SUZ12 variants commonly cause an overgrowth phenotype.
Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study; Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT. Cyrus SS, et al. Among authors: avela k. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):532-547. doi: 10.1002/ajmg.c.31748. Epub 2019 Nov 17. Am J Med Genet C Semin Med Genet. 2019. PMID: 31736240
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Polla DL, et al. Among authors: avela k. Eur J Hum Genet. 2019 Aug;27(8):1235-1243. doi: 10.1038/s41431-019-0383-8. Epub 2019 Mar 26. Eur J Hum Genet. 2019. PMID: 30914828 Free PMC article.
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Polla DL, et al. Among authors: avela k. Eur J Hum Genet. 2020 Apr;28(4):532. doi: 10.1038/s41431-019-0491-5. Eur J Hum Genet. 2020. PMID: 31506600 Free PMC article.
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K. Hakonen AH, et al. Among authors: avela k. Am J Med Genet A. 2020 Nov;182(11):2605-2610. doi: 10.1002/ajmg.a.61836. Epub 2020 Sep 9. Am J Med Genet A. 2020. PMID: 32902138
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
Hämäläinen RH, Avela K, Lambert JA, Kallijärvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE. Hämäläinen RH, et al. Among authors: avela k. Hum Mutat. 2004 May;23(5):522. doi: 10.1002/humu.9233. Hum Mutat. 2004. PMID: 15108285
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