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Page 1
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: korkko j. 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: korkko j. 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.
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.
Rahikkala E, Urpa L, Ghimire B, Topa H, Kurki MI, Koskela M, Airavaara M, Hämäläinen E, Pylkäs K, Körkkö J, Savolainen H, Suoranta A, Bertoli-Avella A, Rolfs A, Mattila P, Daly M, Palotie A, Pietiläinen O, Moilanen J, Kuismin O. Rahikkala E, et al. Among authors: korkko j. Eur J Hum Genet. 2022 May;30(5):619-627. doi: 10.1038/s41431-022-01046-5. Epub 2022 Jan 28. Eur J Hum Genet. 2022. PMID: 35087184 Free PMC article.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Ganna A, Satterstrom FK, Zekavat SM, Das I, Kurki MI, Churchhouse C, Alfoldi J, Martin AR, Havulinna AS, Byrnes A, Thompson WK, Nielsen PR, Karczewski KJ, Saarentaus E, Rivas MA, Gupta N, Pietiläinen O, Emdin CA, Lescai F, Bybjerg-Grauholm J, Flannick J; GoT2D/T2D-GENES Consortium; Mercader JM, Udler M; SIGMA Consortium Helmsley IBD Exome Sequencing Project; FinMetSeq Consortium; iPSYCH-Broad Consortium; Laakso M, Salomaa V, Hultman C, Ripatti S, Hämäläinen E, Moilanen JS, Körkkö J, Kuismin O, Nordentoft M, Hougaard DM, Mors O, Werge T, Mortensen PB, MacArthur D, Daly MJ, Sullivan PF, Locke AE, Palotie A, Børglum AD, Kathiresan S, Neale BM. Ganna A, et al. Among authors: korkko j. Am J Hum Genet. 2018 Jun 7;102(6):1204-1211. doi: 10.1016/j.ajhg.2018.05.002. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861106 Free PMC article.
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Kurki MI, Saarentaus E, Pietiläinen O, Gormley P, Lal D, Kerminen S, Torniainen-Holm M, Hämäläinen E, Rahikkala E, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen-Ebrahim J, Helander H, Vieira P, Männikkö M, Peltonen M, Havulinna AS, Salomaa V, Pirinen M, Suvisaari J, Moilanen JS, Körkkö J, Kuismin O, Daly MJ, Palotie A. Kurki MI, et al. Among authors: korkko j. Nat Commun. 2019 Jan 24;10(1):410. doi: 10.1038/s41467-018-08262-y. Nat Commun. 2019. PMID: 30679432 Free PMC article.
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H; Swedish Schizophrenia Study; INTERVAL Study; DDD Study; UK10 K Consortium; Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC. Singh T, et al. Among authors: korkko j. Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14. Nat Neurosci. 2016. PMID: 26974950 Free PMC article.
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Among authors: korkko j. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.
32 results