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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Bosch E, et al. Among authors: kurki m. Genet Med. 2023 Nov;25(11):100950. doi: 10.1016/j.gim.2023.100950. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551667 Free article.
Genetic associations of protein-coding variants in human disease.
Sun BB, Kurki MI, Foley CN, Mechakra A, Chen CY, Marshall E, Wilk JB; Biogen Biobank Team; Chahine M, Chevalier P, Christé G; FinnGen; Palotie A, Daly MJ, Runz H. Sun BB, et al. Among authors: kurki mi. Nature. 2022 Mar;603(7899):95-102. doi: 10.1038/s41586-022-04394-w. Epub 2022 Feb 23. Nature. 2022. PMID: 35197637 Free PMC article.
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Urpa L, Kurki MI, Rahikkala E, Hämäläinen E, Salomaa V, Suvisaari J, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen-Ebrahim J, Helander H, Vieira P, Uusimaa J, Moilanen JS, Körkkö J, Singh T, Kuismin O, Pietiläinen O, Palotie A, Daly MJ. Urpa L, et al. Among authors: kurki mi. Eur J Hum Genet. 2024 May;32(5):576-583. doi: 10.1038/s41431-024-01581-3. Epub 2024 Mar 11. Eur J Hum Genet. 2024. PMID: 38467730 Free PMC article.
Overlay databank unlocks data-driven analyses of biomolecules for all.
Kiirikki AM, Antila HS, Bort LS, Buslaev P, Favela-Rosales F, Ferreira TM, Fuchs PFJ, Garcia-Fandino R, Gushchin I, Kav B, Kučerka N, Kula P, Kurki M, Kuzmin A, Lalitha A, Lolicato F, Madsen JJ, Miettinen MS, Mingham C, Monticelli L, Nencini R, Nesterenko AM, Piggot TJ, Piñeiro Á, Reuter N, Samantray S, Suárez-Lestón F, Talandashti R, Ollila OHS. Kiirikki AM, et al. Among authors: kurki m. Nat Commun. 2024 Feb 7;15(1):1136. doi: 10.1038/s41467-024-45189-z. Nat Commun. 2024. PMID: 38326316 Free PMC article.
171 results