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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 3
2004 1
2005 2
2006 3
2007 3
2008 1
2009 3
2010 5
2011 2
2012 3
2013 4
2014 5
2015 4
2016 5
2017 10
2018 8
2019 4
2020 6
2021 7
2022 8
2023 5
2024 4

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80 results

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Page 1
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA. Pérez-Dueñas B, et al. Among authors: uusimaa j. Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25. Mov Disord. 2022. PMID: 36054588 Free PMC article.
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, Laine M, Lapatto R, Myllynen P, Niinikoski H, Rahikkala E, Suomalainen A, Tikkanen R, Tyynismaa H, Vieira P, Zarybnicky T, Sipilä P, Kuure S, Hinttala R. Uusimaa J, et al. Dis Model Mech. 2022 Oct 1;15(10):dmm049490. doi: 10.1242/dmm.049490. Epub 2022 Oct 26. Dis Model Mech. 2022. PMID: 36285626 Free PMC article. Review.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: uusimaa j. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H, Kokkonen H, Al Macki N, Al Habsi H, Löppönen T, Rantala H, Pietiäinen V, Zhang SY, Renko M, Hautala T, Al Farsi T, Uusimaa J, Saarela J. Kaustio M, et al. Among authors: uusimaa j. J Allergy Clin Immunol. 2021 Aug;148(2):599-611. doi: 10.1016/j.jaci.2020.12.656. Epub 2021 Mar 1. J Allergy Clin Immunol. 2021. PMID: 33662367 Free article. Clinical Trial.
Nhlrc2 is crucial during mouse gastrulation.
Hiltunen AE, Vuolteenaho R, Ronkainen VP, Miinalainen I, Uusimaa J, Lehtonen S, Hinttala R. Hiltunen AE, et al. Among authors: uusimaa j. Genesis. 2022 Mar;60(3):e23470. doi: 10.1002/dvg.23470. Epub 2022 Mar 8. Genesis. 2022. PMID: 35258166 Free PMC article.
Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.
Zárybnický T, Heikkinen A, Kangas SM, Karikoski M, Martínez-Nieto GA, Salo MH, Uusimaa J, Vuolteenaho R, Hinttala R, Sipilä P, Kuure S. Zárybnický T, et al. Among authors: uusimaa j. Cells. 2021 Nov 13;10(11):3158. doi: 10.3390/cells10113158. Cells. 2021. PMID: 34831381 Free PMC article. Review.
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.
Tallgren A, Kager L, O'Grady G, Tuominen H, Körkkö J, Kuismin O, Feucht M, Wilson C, Behunova J, England E, Kurki MI, Palotie A, Hallman M, Kaarteenaho R, Laccone F, Boztug K, Hinttala R, Uusimaa J. Tallgren A, et al. Among authors: uusimaa j. Front Neurosci. 2023 Apr 27;17:1123327. doi: 10.3389/fnins.2023.1123327. eCollection 2023. Front Neurosci. 2023. PMID: 37179546 Free PMC article.
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Kang Y, Hepojoki J, Maldonado RS, Mito T, Terzioglu M, Manninen T, Kant R, Singh S, Othman A, Verma R, Uusimaa J, Wartiovaara K, Kareinen L, Zamboni N, Nyman TA, Paetau A, Kipar A, Vapalahti O, Suomalainen A. Kang Y, et al. Among authors: uusimaa j. Nature. 2024 Apr;628(8009):844-853. doi: 10.1038/s41586-024-07260-z. Epub 2024 Apr 3. Nature. 2024. PMID: 38570685 Free PMC article.
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas MR, Widgren P, Korpelainen P, Kangas SM, Komulainen T, Vieira P, Rahikkala E, Pylkäs K, Tuominen H, Kokkonen H, Miinalainen I, Nadaf J, Majewski J, Hinttala R, Uusimaa J. Hautakangas MR, et al. Among authors: uusimaa j. Clin Genet. 2023 Dec;104(6):686-693. doi: 10.1111/cge.14416. Epub 2023 Aug 13. Clin Genet. 2023. PMID: 37574199
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Kraatari-Tiri M, Soikkonen L, Myllykoski M, Jamshidi Y, Karimiani EG, Komulainen-Ebrahim J, Kallankari H, Mignot C, Depienne C, Keren B, Nougues MC, Alsahlawi Z, Romito A, Martini J, Toosi MB, Carroll CJ, Tripolszki K, Bauer P, Uusimaa J, Bertoli-Avella AM, Koivunen P, Rahikkala E. Kraatari-Tiri M, et al. Among authors: uusimaa j. Clin Genet. 2022 Nov;102(5):444-450. doi: 10.1111/cge.14203. Epub 2022 Aug 19. Clin Genet. 2022. PMID: 35908151 Free PMC article. Review.
80 results