MicroSAGE Analysis of 2,353 Expressed Genes in a Single Cell‐Derived Colony of Undifferentiated Human Mesenchymal Stem Cells Reveals mRNAs of Multiple Cell Lineages
Tremain, Nicola, Korkko, Jarmo, Ibberson, David, Kopen, Gene C., DiGirolamo, Carla, Phinney, Donald G.
Published in Stem cells (Dayton, Ohio) (01.01.2001)
Published in Stem cells (Dayton, Ohio) (01.01.2001)
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A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
Rahikkala, Elisa, Urpa, Lea, Ghimire, Bishwa, Topa, Hande, Kurki, Mitja I, Koskela, Maryna, Airavaara, Mikko, Hämäläinen, Eija, Pylkäs, Katri, Körkkö, Jarmo, Savolainen, Helena, Suoranta, Anu, Bertoli-Avella, Aida, Rolfs, Arndt, Mattila, Pirkko, Daly, Mark, Palotie, Aarno, Pietiläinen, Olli, Moilanen, Jukka, Kuismin, Outi
Published in European journal of human genetics : EJHG (01.05.2022)
Published in European journal of human genetics : EJHG (01.05.2022)
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Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
Tallgren, Antti, Kager, Leo, O'Grady, Gina, Tuominen, Hannu, Körkkö, Jarmo, Kuismin, Outi, Feucht, Martha, Wilson, Callum, Behunova, Jana, England, Eleina, Kurki, Mitja I, Palotie, Aarno, Hallman, Mikko, Kaarteenaho, Riitta, Laccone, Franco, Boztug, Kaan, Hinttala, Reetta, Uusimaa, Johanna
Published in Frontiers in neuroscience (27.04.2023)
Published in Frontiers in neuroscience (27.04.2023)
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Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen
Di Lullo, Gloria A., Sweeney, Shawn M., Körkkö, Jarmo, Ala-Kokko, Leena, San Antonio, James D.
Published in The Journal of biological chemistry (08.02.2002)
Published in The Journal of biological chemistry (08.02.2002)
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Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density
DEVOTO, Marcella, SPOTILA, Loretta D, STABLEY, Deborah L, WHARTON, Gina N, RYDBECK, Halfdan, KORKKO, Jarmo, KOSICH, Richard, PROCKOP, Darwin, TENENHOUSE, Alan, SOL-CHURCH, Katia
Published in European journal of human genetics : EJHG (01.06.2005)
Published in European journal of human genetics : EJHG (01.06.2005)
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Journal Article
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
Polla, Daniel L, Rahikkala, Elisa, Bode, Michaela K, Määttä, Tuomo, Varilo, Teppo, Loman, Thyrza, Philips, Anju K, Kurki, Mitja, Palotie, Aarno, Körkkö, Jarmo, Vieira, Päivi, Avela, Kristiina, Jacquemin, Valérie, Pirson, Isabelle, Abramowicz, Marc, de Brouwer, Arjan P M, Kuismin, Outi, van Bokhoven, Hans, Järvelä, Irma
Published in European journal of human genetics : EJHG (01.08.2019)
Published in European journal of human genetics : EJHG (01.08.2019)
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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
Kurki, Mitja I, Saarentaus, Elmo, Pietiläinen, Olli, Gormley, Padhraig, Lal, Dennis, Kerminen, Sini, Torniainen-Holm, Minna, Hämäläinen, Eija, Rahikkala, Elisa, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen-Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Männikkö, Minna, Peltonen, Markku, Havulinna, Aki S, Salomaa, Veikko, Pirinen, Matti, Suvisaari, Jaana, Moilanen, Jukka S, Körkkö, Jarmo, Kuismin, Outi, Daly, Mark J, Palotie, Aarno
Published in Nature communications (24.01.2019)
Published in Nature communications (24.01.2019)
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Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
Polla, Daniel L, Rahikkala, Elisa, Bode, Michaela K, Määttä, Tuomo, Varilo, Teppo, Loman, Thyrza, Philips, Anju K, Kurki, Mitja, Palotie, Aarno, Körkkö, Jarmo, Vieira, Päivi, Avela, Kristiina, Jacquemin, Valérie, Pirson, Isabelle, Abramowicz, Marc, de Brouwer, Arjan P M, Kuismin, Outi, van Bokhoven, Hans, Järvelä, Irma
Published in European journal of human genetics : EJHG (01.04.2020)
Published in European journal of human genetics : EJHG (01.04.2020)
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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Singh, Tarjinder, Kurki, Mitja I, Curtis, David, Purcell, Shaun M, Crooks, Lucy, McRae, Jeremy, Suvisaari, Jaana, Chheda, Himanshu, Blackwood, Douglas, Breen, Gerome, Pietiläinen, Olli, Gerety, Sebastian S, Ayub, Muhammad, Blyth, Moira, Cole, Trevor, Collier, David, Coomber, Eve L, Craddock, Nick, Daly, Mark J, Danesh, John, DiForti, Marta, Foster, Alison, Freimer, Nelson B, Geschwind, Daniel, Johnstone, Mandy, Joss, Shelagh, Kirov, Georg, Körkkö, Jarmo, Kuismin, Outi, Holmans, Peter, Hultman, Christina M, Iyegbe, Conrad, Lönnqvist, Jouko, Männikkö, Minna, McCarroll, Steve A, McGuffin, Peter, McIntosh, Andrew M, McQuillin, Andrew, Moilanen, Jukka S, Moore, Carmel, Murray, Robin M, Newbury-Ecob, Ruth, Ouwehand, Willem, Paunio, Tiina, Prigmore, Elena, Rees, Elliott, Roberts, David, Sambrook, Jennifer, Sklar, Pamela, St Clair, David, Veijola, Juha, Walters, James T R, Williams, Hywel, Sullivan, Patrick F, Hurles, Matthew E, O'Donovan, Michael C, Palotie, Aarno, Owen, Michael J, Barrett, Jeffrey C
Published in Nature neuroscience (01.04.2016)
Published in Nature neuroscience (01.04.2016)
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Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum
Ganna, Andrea, Satterstrom, F. Kyle, Zekavat, Seyedeh M., Das, Indraniel, Kurki, Mitja I., Churchhouse, Claire, Alfoldi, Jessica, Martin, Alicia R., Havulinna, Aki S., Byrnes, Andrea, Thompson, Wesley K., Nielsen, Philip R., Karczewski, Konrad J., Saarentaus, Elmo, Rivas, Manuel A., Gupta, Namrata, Pietiläinen, Olli, Emdin, Connor A., Lescai, Francesco, Bybjerg-Grauholm, Jonas, Flannick, Jason, Mercader, Josep M., Udler, Miriam, Laakso, Markku, Salomaa, Veikko, Hultman, Christina, Ripatti, Samuli, Hämäläinen, Eija, Moilanen, Jukka S., Körkkö, Jarmo, Kuismin, Outi, Nordentoft, Merete, Hougaard, David M., Mors, Ole, Werge, Thomas, Mortensen, Preben Bo, MacArthur, Daniel, Daly, Mark J., Sullivan, Patrick F., Locke, Adam E., Palotie, Aarno, Børglum, Anders D., Kathiresan, Sekar, Neale, Benjamin M.
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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Conformation Sensitive Gel Electrophoresis for Simple and Accurate Detection of Mutations: Comparison with Denaturing Gradient Gel Electrophoresis and Nucleotide Sequencing
Korkko, Jarmo, Annunen, Susanna, Pihlajamaa, Tero, Prockop, Darwin J., Ala-Kokko, Leena
Published in Proceedings of the National Academy of Sciences - PNAS (17.02.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (17.02.1998)
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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability
Urpa, Lea, Kurki, Mitja I, Rahikkala, Elisa, Hämäläinen, Eija, Salomaa, Veikko, Suvisaari, Jaana, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen-Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Uusimaa, Johanna, Moilanen, Jukka S, Körkkö, Jarmo, Singh, Tarjinder, Kuismin, Outi, Pietiläinen, Olli, Palotie, Aarno, Daly, Mark J
Published in European journal of human genetics : EJHG (01.05.2024)
Published in European journal of human genetics : EJHG (01.05.2024)
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The impact of rare protein coding genetic variation on adult cognitive function
Chen, Chia-Yen, Tian, Ruoyu, Ge, Tian, Lam, Max, Sanchez-Andrade, Gabriela, Singh, Tarjinder, Urpa, Lea, Liu, Jimmy Z, Sanderson, Mark, Rowley, Christine, Ironfield, Holly, Fang, Terry, Daly, Mark, Palotie, Aarno, Tsai, Ellen A, Huang, Hailiang, Hurles, Matthew E, Gerety, Sebastian S, Lencz, Todd, Runz, Heiko
Published in Nature genetics (01.06.2023)
Published in Nature genetics (01.06.2023)
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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Marini, Joan C., Forlino, Antonella, Cabral, Wayne A., Barnes, Aileen M., San Antonio, James D., Milgrom, Sarah, Hyland, James C., Körkkö, Jarmo, Prockop, Darwin J., De Paepe, Anne, Coucke, Paul, Symoens, Sofie, Glorieux, Francis H., Roughley, Peter J., Lund, Alan M., Kuurila-Svahn, Kaija, Hartikka, Heini, Cohn, Daniel H., Krakow, Deborah, Mottes, Monica, Schwarze, Ulrike, Chen, Diana, Yang, Kathleen, Kuslich, Christine, Troendle, James, Dalgleish, Raymond, Byers, Peter H.
Published in Human mutation (01.03.2007)
Published in Human mutation (01.03.2007)
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Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
Bastepe, Murat, Fröhlich, Leopold F, Hendy, Geoffrey N, Indridason, Olafur S, Josse, Robert G, Koshiyama, Hiroyuki, Körkkö, Jarmo, Nakamoto, Jon M, Rosenbloom, Arlan L, Slyper, Arnold H, Sugimoto, Toshitsugu, Tsatsoulis, Agathocles, Crawford, John D, Jüppner, Harald
Published in The Journal of clinical investigation (01.10.2003)
Published in The Journal of clinical investigation (01.10.2003)
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Journal Article
2. ENRICHMENT OF RARE, DAMAGING VARIANTS IN SCHIZOPHRENIA-RELATED GENES IN INTELLECTUAL DISABILITY PATIENTS WITH PSYCHOTIC DISORDERS
Urpa, Lea, Kurki, Mitja, Singh, Tarjinder, Hämäläinen, Eijä, Rahikkala, Elisa, Moilanen, Jukka, Körkkö, Jarmo, Kuismin, Outi, Pietiläinen, Olli, Daly, Mark, Palotie, Aarno
Published in European neuropsychopharmacology (01.10.2022)
Published in European neuropsychopharmacology (01.10.2022)
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Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology
Cabral, Wayne A, Fertala, Andrzej, Green, Laura K, Korkko, Jarmo, Forlino, Antonella, Marini, Joan C
Published in The Journal of biological chemistry (08.02.2002)
Published in The Journal of biological chemistry (08.02.2002)
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Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
Bastepe, M, Froehlich, L F, Hendy, G N, Indridason, O S, Josse, R G, Koshiyama, H, Koerkkoe, J, Nakamoto, J M, Rosenbloom, AL, Slyper, AH, Sugimoto, T, Tsatsoulis, A, Crawford, J D, Jueppner, H
Published in The Journal of clinical investigation (01.10.2003)
Published in The Journal of clinical investigation (01.10.2003)
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Journal Article
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients
Hartikka, Heini, Kuurila, Kaija, Körkkö, Jarmo, Kaitila, Ilkka, Grénman, Reidar, Pynnönen, Seppo, Hyland, James C., Ala-Kokko, Leena
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations
Körkkö, Jarmo, Ala-Kokko, Leena, De Paepe, Anne, Nuytinck, Lieve, Earley, James, Prockop, Darwin J.
Published in American journal of human genetics (01.01.1998)
Published in American journal of human genetics (01.01.1998)
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