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Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review.
Pavlovica K, Irmejs A, Noukas M, Palover M, Kals M, Tonisson N, Metspalu A, Gronwald J, Lubinski J, Murmane D, Kalnina A, Loza P, Maksimenko J, Trofimovics G, Subatniece S, Daneberga Z, Miklasevics E, Gardovskis J. Pavlovica K, et al. Among authors: kals m. Eur J Med Genet. 2022 May;65(5):104477. doi: 10.1016/j.ejmg.2022.104477. Epub 2022 Mar 18. Eur J Med Genet. 2022. PMID: 35314380 Review.
A missense mutation in DUSP6 is associated with Class III malocclusion.
Nikopensius T, Saag M, Jagomägi T, Annilo T, Kals M, Kivistik PA, Milani L, Metspalu A. Nikopensius T, et al. Among authors: kals m. J Dent Res. 2013 Oct;92(10):893-8. doi: 10.1177/0022034513502790. Epub 2013 Aug 21. J Dent Res. 2013. PMID: 23965468
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. Vaher U, et al. Among authors: kals m. J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18. J Child Neurol. 2014. PMID: 24352161
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.
Tšuiko O, Nõukas M, Žilina O, Hensen K, Tapanainen JS, Mägi R, Kals M, Kivistik PA, Haller-Kikkatalo K, Salumets A, Kurg A. Tšuiko O, et al. Among authors: kals m. Hum Reprod. 2016 Aug;31(8):1913-25. doi: 10.1093/humrep/dew142. Epub 2016 Jun 14. Hum Reprod. 2016. PMID: 27301361 Free PMC article.
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM. Ganna A, et al. Among authors: kals m. Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 3. Nat Neurosci. 2016. PMID: 27694993 Free PMC article.
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms.
Guo MH, Nandakumar SK, Ulirsch JC, Zekavat SM, Buenrostro JD, Natarajan P, Salem RM, Chiarle R, Mitt M, Kals M, Pärn K, Fischer K, Milani L, Mägi R, Palta P, Gabriel SB, Metspalu A, Lander ES, Kathiresan S, Hirschhorn JN, Esko T, Sankaran VG. Guo MH, et al. Among authors: kals m. Proc Natl Acad Sci U S A. 2017 Jan 17;114(3):E327-E336. doi: 10.1073/pnas.1619052114. Epub 2016 Dec 28. Proc Natl Acad Sci U S A. 2017. PMID: 28031487 Free PMC article.
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