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1.

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.

Salokivi, Tommi; Parkkola, Riitta; Rajendran, Yasmin; Bharadwaj, Thashi; Acharya, Anushree; Leal, Suzanne M; Järvelä, Irma; Arvio, Maria; Schrauwen, Isabelle.

Am J Med Genet A; 194(4): e63478, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-37975178

2.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

Acharya, Anushree; Kavus, Haluk; Dunn, Patrick; Nasir, Abdul; Folk, Leandra; Withrow, Kara; Wentzensen, Ingrid M; Ruzhnikov, Maura R Z; Fallot, Camille; Smol, Thomas; Rama, Mélanie; Brown, Kathleen; Whalen, Sandra; Ziegler, Alban; Barth, Magali; Chassevent, Anna; Smith-Hicks, Constance; Afenjar, Alexandra; Courtin, Thomas; Heide, Solveig; Font-Montgomery, Esperanza; Heid, Caleb; Hamm, J Austin; Love, Donald R; Thabet, Farouq; Misra, Vinod K; Cunningham, Mitch; Leal, Suzanne M; Jarvela, Irma; Normand, Elizabeth A; Zou, Fanggeng; Helal, Mayada; Keren, Boris; Torti, Erin; Chung, Wendy K; Schrauwen, Isabelle.

J Med Genet; 59(7): 669-677, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-34321324

3.

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.

Järvelä, Irma; Määttä, Tuomo; Acharya, Anushree; Leppälä, Juha; Jhangiani, Shalini N; Arvio, Maria; Siren, Auli; Kankuri-Tammilehto, Minna; Kokkonen, Hannaleena; Palomäki, Maarit; Varilo, Teppo; Fang, Mary; Hadley, Trevor D; Jolly, Angad; Linnankivi, Tarja; Paetau, Ritva; Saarela, Anni; Kälviäinen, Reetta; Olme, Jan; Nouel-Saied, Liz M; Cornejo-Sanchez, Diana M; Llaci, Lorida; Lupski, James R; Posey, Jennifer E; Leal, Suzanne M; Schrauwen, Isabelle.

Hum Genet; 140(7): 1011-1029, 2021 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-33710394

4.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua.

Genet Med; 23(11): 2122-2137, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-34345025

5.

Causes of Death of Professional Musicians in the Classical Genre.

Kuusi, Tuire; Haukka, Jari; Myllykangas, Liisa; Järvelä, Irma.

Med Probl Perform Art; 34(2): 92-97, 2019 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-31152651

6.

Genomics approaches to study musical aptitude.

Oikkonen, Jaana; Järvelä, Irma.

Bioessays; 36(11): 1102-8, 2014 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-25154354

7.

Variants in CUL4B are associated with cerebral malformations.

Vulto-van Silfhout, Anneke T; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E L M; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M; Yntema, Helger G; Järvelä, Irma; Ropers, Hans-Hilger; de Vries, Bert B A; Brunner, Han G; van Bokhoven, Hans; Raymond, F Lucy; Willemsen, Michèl A A P; Chelly, Jamel; Xiong, Yue; Barkovich, A James; Kalscheuer, Vera M; Kleefstra, Tjitske; de Brouwer, Arjan P M.

Hum Mutat; 36(1): 106-17, 2015 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-25385192

8.

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Leblond, Claire S; Heinrich, Jutta; Delorme, Richard; Proepper, Christian; Betancur, Catalina; Huguet, Guillaume; Konyukh, Marina; Chaste, Pauline; Ey, Elodie; Rastam, Maria; Anckarsäter, Henrik; Nygren, Gudrun; Gillberg, I Carina; Melke, Jonas; Toro, Roberto; Regnault, Beatrice; Fauchereau, Fabien; Mercati, Oriane; Lemière, Nathalie; Skuse, David; Poot, Martin; Holt, Richard; Monaco, Anthony P; Järvelä, Irma; Kantojärvi, Katri; Vanhala, Raija; Curran, Sarah; Collier, David A; Bolton, Patrick; Chiocchetti, Andreas; Klauck, Sabine M; Poustka, Fritz; Freitag, Christine M; Waltes, Regina; Kopp, Marnie; Duketis, Eftichia; Bacchelli, Elena; Minopoli, Fiorella; Ruta, Liliana; Battaglia, Agatino; Mazzone, Luigi; Maestrini, Elena; Sequeira, Ana F; Oliveira, Barbara; Vicente, Astrid; Oliveira, Guiomar; Pinto, Dalila; Scherer, Stephen W; Zelenika, Diana; Delepine, Marc.

PLoS Genet; 8(2): e1002521, 2012 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-22346768

9.

Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association.

Haapasalo, Karita; Vuopio, Jaana; Syrjänen, Jaana; Suvilehto, Jari; Massinen, Satu; Karppelin, Matti; Järvelä, Irma; Meri, Seppo; Kere, Juha; Jokiranta, T Sakari.

J Immunol; 188(1): 426-35, 2012 Jan 01.

Artículo en Inglés | MEDLINE | ID: mdl-22140259

10.

[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]. / Monivammaisuuden taustalla Allan-Herndon-Dudleyn oireyhtymä.

Arvio, Maria; Philips, Anju K; Ahvenainen, Minna; Somer, Mirja; Kalscheuer, Vera; Järvelä, Irma.

Duodecim; 130(21): 2202-5, 2014.

Artículo en Fi | MEDLINE | ID: mdl-25582014

11.

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.

Järvelä, Irma; Paetau, Ritva; Rajendran, Yasmin; Acharya, Anushree; Bharadwaj, Thashi; Leal, Suzanne M; Lehesjoki, Anna-Elina; Palomäki, Maarit; Schrauwen, Isabelle.

Brain Commun; 6(3): fcae142, 2024.

Artículo en Inglés | MEDLINE | ID: mdl-38712318

12.

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.

Schrauwen, Isabelle; Rajendran, Yasmin; Acharya, Anushree; Öhman, Susanna; Arvio, Maria; Paetau, Ritva; Siren, Auli; Avela, Kristiina; Granvik, Johanna; Leal, Suzanne M; Määttä, Tuomo; Kokkonen, Hannaleena; Järvelä, Irma.

Sci Rep; 14(1): 11239, 2024 05 16.

Artículo en Inglés | MEDLINE | ID: mdl-38755281

13.

Interleukin 8 promoter polymorphism predicts the initial response to bevacizumab treatment for exudative age-related macular degeneration.

Hautamäki, Asta; Kivioja, Jarno; Vavuli, Satu; Kakko, Sakari; Savolainen, Eeva-Riitta; Savolainen, Markku J; Liinamaa, M Johanna; Seitsonen, Sanna; Onkamo, Päivi; Järvelä, Irma; Immonen, Ilkka.

Retina; 33(9): 1815-27, 2013 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-23584701

14.

Identification of a variant associated with adult-type hypolactasia.

Enattah, Nabil Sabri; Sahi, Timo; Savilahti, Erkki; Terwilliger, Joseph D; Peltonen, Leena; Järvelä, Irma.

Nat Genet; 30(2): 233-7, 2002 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-11788828

15.

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.

Bharadwaj, Thashi; Schrauwen, Isabelle; Acharya, Anushree; Nouel-Saied, Liz M; Väisänen, Marja-Leena; Kraatari, Minna; Rahikkala, Elisa; Jarvela, Irma; Kotimäki, Jouko; Leal, Suzanne M.

Mol Genet Genomic Med; 10(3): e1866, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-35150090

16.

The Finnish genetic heritage in 2022 - from diagnosis to translational research.

Uusimaa, Johanna; Kettunen, Johannes; Varilo, Teppo; Järvelä, Irma; Kallijärvi, Jukka; Kääriäinen, Helena; Laine, Minna; Lapatto, Risto; Myllynen, Päivi; Niinikoski, Harri; Rahikkala, Elisa; Suomalainen, Anu; Tikkanen, Ritva; Tyynismaa, Henna; Vieira, Päivi; Zarybnicky, Tomas; Sipilä, Petra; Kuure, Satu; Hinttala, Reetta.

Dis Model Mech; 15(10)2022 10 01.

Artículo en Inglés | MEDLINE | ID: mdl-36285626

17.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Froyen, Guy; Corbett, Mark; Vandewalle, Joke; Jarvela, Irma; Lawrence, Owen; Meldrum, Cliff; Bauters, Marijke; Govaerts, Karen; Vandeleur, Lucianne; Van Esch, Hilde; Chelly, Jamel; Sanlaville, Damien; van Bokhoven, Hans; Ropers, Hans-Hilger; Laumonnier, Frederic; Ranieri, Enzo; Schwartz, Charles E; Abidi, Fatima; Tarpey, Patrick S; Futreal, P Andrew; Whibley, Annabel; Raymond, F Lucy; Stratton, Michael R; Fryns, Jean-Pierre; Scott, Rodney; Peippo, Maarit; Sipponen, Marjatta; Partington, Michael; Mowat, David; Field, Michael; Hackett, Anna; Marynen, Peter; Turner, Gillian; Gécz, Jozef.

Am J Hum Genet; 82(2): 432-43, 2008 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-18252223

18.

Lack of complement inhibitors in the outer intracranial artery aneurysm wall associates with complement terminal pathway activation.

Tulamo, Riikka; Frösen, Juhana; Paetau, Anders; Seitsonen, Sanna; Hernesniemi, Juha; Niemelä, Mika; Järvelä, Irma; Meri, Seppo.

Am J Pathol; 177(6): 3224-32, 2010 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-20971742

19.

Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music.

Ukkola-Vuoti, Liisa; Oikkonen, Jaana; Onkamo, Päivi; Karma, Kai; Raijas, Pirre; Järvelä, Irma.

J Hum Genet; 56(4): 324-9, 2011 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-21307861

20.

Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.

Lokki, A Inkeri; Järvelä, Irma; Israelsson, Elisabeth; Maiga, Bakary; Troye-Blomberg, Marita; Dolo, Amagana; Doumbo, Ogobara K; Meri, Seppo; Holmberg, Ville.

Malar J; 10: 9, 2011 Jan 14.

Artículo en Inglés | MEDLINE | ID: mdl-21235777

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