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Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.
Fadista J, Skotte L, Geller F, Bybjerg-Grauholm J, Gørtz S, Romitti PA, Caggana M, Kay DM, Matsson H, Boyd HA, Hougaard DM, Nordenskjöld A, Mills JL, Melbye M, Feenstra B. Fadista J, et al. Among authors: matsson h. Hum Mol Genet. 2019 Jan 15;28(2):332-340. doi: 10.1093/hmg/ddy347. Hum Mol Genet. 2019. PMID: 30281099 Free PMC article.
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.
Anthoni H, Zucchelli M, Matsson H, Müller-Myhsok B, Fransson I, Schumacher J, Massinen S, Onkamo P, Warnke A, Griesemann H, Hoffmann P, Nopola-Hemmi J, Lyytinen H, Schulte-Körne G, Kere J, Nöthen MM, Peyrard-Janvid M. Anthoni H, et al. Among authors: matsson h. Hum Mol Genet. 2007 Mar 15;16(6):667-77. doi: 10.1093/hmg/ddm009. Epub 2007 Feb 19. Hum Mol Genet. 2007. PMID: 17309879
Polymorphisms in DCDC2 and S100B associate with developmental dyslexia.
Matsson H, Huss M, Persson H, Einarsdottir E, Tiraboschi E, Nopola-Hemmi J, Schumacher J, Neuhoff N, Warnke A, Lyytinen H, Schulte-Körne G, Nöthen MM, Leppänen PH, Peyrard-Janvid M, Kere J. Matsson H, et al. J Hum Genet. 2015 Jul;60(7):399-401. doi: 10.1038/jhg.2015.37. Epub 2015 Apr 16. J Hum Genet. 2015. PMID: 25877001 Free PMC article.
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.
Fadista J, Lund M, Skotte L, Geller F, Nandakumar P, Chatterjee S, Matsson H, Granström AL, Wester T, Salo P, Virtanen V, Carstensen L, Bybjerg-Grauholm J, Hougaard DM, Pakarinen M, Perola M, Nordenskjöld A, Chakravarti A, Melbye M, Feenstra B. Fadista J, et al. Among authors: matsson h. Eur J Hum Genet. 2018 Apr;26(4):561-569. doi: 10.1038/s41431-017-0053-7. Epub 2018 Jan 29. Eur J Hum Genet. 2018. PMID: 29379196 Free PMC article.
CTNND2-a candidate gene for reading problems and mild intellectual disability.
Hofmeister W, Nilsson D, Topa A, Anderlid BM, Darki F, Matsson H, Tapia Páez I, Klingberg T, Samuelsson L, Wirta V, Vezzi F, Kere J, Nordenskjöld M, Syk Lundberg E, Lindstrand A. Hofmeister W, et al. Among authors: matsson h. J Med Genet. 2015 Feb;52(2):111-22. doi: 10.1136/jmedgenet-2014-102757. Epub 2014 Dec 3. J Med Genet. 2015. PMID: 25473103
Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.
Einarsdottir E, Svensson I, Darki F, Peyrard-Janvid M, Lindvall JM, Ameur A, Jacobsson C, Klingberg T, Kere J, Matsson H. Einarsdottir E, et al. Among authors: matsson h. Hum Genet. 2015 Nov;134(11-12):1239-48. doi: 10.1007/s00439-015-1602-1. Epub 2015 Sep 23. Hum Genet. 2015. PMID: 26400686 Free PMC article.
36 results