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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Gilfillan GD, et al. Among authors: mattingsdal m. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA. Maury EA, et al. Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601975 Free PMC article.
Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia.
Hsu YH, Pintacuda G, Liu R, Nacu E, Kim A, Tsafou K, Petrossian N, Crotty W, Suh JM, Riseman J, Martin JM, Biagini JC, Mena D, Ching JKT, Malolepsza E, Li T, Singh T, Ge T, Egri SB, Tanenbaum B, Stanclift CR, Apffel AM; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Stanley Global Asia Initiatives; Carr SA, Schenone M, Jaffe J, Fornelos N, Huang H, Eggan KC, Lage K. Hsu YH, et al. iScience. 2023 Apr 18;26(5):106701. doi: 10.1016/j.isci.2023.106701. eCollection 2023 May 19. iScience. 2023. PMID: 37207277 Free PMC article.
Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.
Wangensteen T, Kolsgaard ML, Mattingsdal M, Joner G, Tonstad S, Undlien D, Retterstol L. Wangensteen T, et al. Among authors: mattingsdal m. Exp Clin Endocrinol Diabetes. 2009 Jun;117(6):266-73. doi: 10.1055/s-0028-1102942. Epub 2009 Mar 19. Exp Clin Endocrinol Diabetes. 2009. PMID: 19301229 Clinical Trial.
Sex-dependent association of common variants of microcephaly genes with brain structure.
Rimol LM, Agartz I, Djurovic S, Brown AA, Roddey JC, Kähler AK, Mattingsdal M, Athanasiu L, Joyner AH, Schork NJ, Halgren E, Sundet K, Melle I, Dale AM, Andreassen OA; Alzheimer's Disease Neuroimaging Initiative. Rimol LM, et al. Among authors: mattingsdal m. Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):384-8. doi: 10.1073/pnas.0908454107. Epub 2009 Dec 22. Proc Natl Acad Sci U S A. 2010. PMID: 20080800 Free PMC article.
Linkage-disequilibrium-based binning affects the interpretation of GWASs.
Christoforou A, Dondrup M, Mattingsdal M, Mattheisen M, Giddaluru S, Nöthen MM, Rietschel M, Cichon S, Djurovic S, Andreassen OA, Jonassen I, Steen VM, Puntervoll P, Le Hellard S. Christoforou A, et al. Among authors: mattingsdal m. Am J Hum Genet. 2012 Apr 6;90(4):727-33. doi: 10.1016/j.ajhg.2012.02.025. Epub 2012 Mar 22. Am J Hum Genet. 2012. PMID: 22444669 Free PMC article.
Genetic variants affecting the neural processing of human facial expressions: evidence using a genome-wide functional imaging approach.
Brown AA, Jensen J, Nikolova YS, Djurovic S, Agartz I, Server A, Ferrell RE, Manuck SB, Mattingsdal M, Melle I, Hariri AR, Frigessi A, Andreassen OA. Brown AA, et al. Among authors: mattingsdal m. Transl Psychiatry. 2012 Jul 24;2(7):e143. doi: 10.1038/tp.2012.67. Transl Psychiatry. 2012. PMID: 22828495 Free PMC article.
94 results