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Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia.
Halvorsen M, Huh R, Oskolkov N, Wen J, Netotea S, Giusti-Rodriguez P, Karlsson R, Bryois J, Nystedt B, Ameur A, Kähler AK, Ancalade N, Farrell M, Crowley JJ, Li Y, Magnusson PKE, Gyllensten U, Hultman CM, Sullivan PF, Szatkiewicz JP. Halvorsen M, et al. Nat Commun. 2020 Apr 15;11(1):1842. doi: 10.1038/s41467-020-15707-w. Nat Commun. 2020. PMID: 32296054 Free PMC article.
Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature.
Farrell M, Lichtenstein M, Harner MK, Crowley JJ, Filmyer DM, Lázaro-Muñoz G, Dietterich TE, Bruno LM, Shaughnessy RA, Biondi TF, Burkholder S, Donmoyer J, Berg JS, Szatkiewicz J, Sullivan PF, Josiassen RC. Farrell M, et al. Transl Psychiatry. 2020 Jan 28;10(1):42. doi: 10.1038/s41398-020-0725-x. Transl Psychiatry. 2020. PMID: 32066678 Free PMC article. Review.
Characterization of Single Gene Copy Number Variants in Schizophrenia.
Szatkiewicz JP, Fromer M, Nonneman RJ, Ancalade N, Johnson JS, Stahl EA, Rees E, Bergen SE, Hultman CM, Kirov G, O'Donovan M, Owen M, Holmans P, Sklar P, Sullivan PF, Purcell SM, Crowley JJ, Ruderfer DM. Szatkiewicz JP, et al. Biol Psychiatry. 2020 Apr 15;87(8):736-744. doi: 10.1016/j.biopsych.2019.09.023. Epub 2019 Oct 4. Biol Psychiatry. 2020. PMID: 31767120 Free PMC article.
Correction: Common-variant associations with fragile X syndrome.
Crowley JJ, Szatkiewicz J, Kähler AK, Giusti-Rodriguez P, Ancalade N, Booker JK, Carr JL, Giamberardino SN, Crawford GE, Losh M, Stockmeier CA, Taylor AK, Piven J, Sullivan PF. Crowley JJ, et al. Mol Psychiatry. 2020 Dec;25(12):3450. doi: 10.1038/s41380-019-0526-x. Mol Psychiatry. 2020. PMID: 31548576
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.
Watson HJ, Yilmaz Z, Thornton LM, Hübel C, Coleman JRI, Gaspar HA, Bryois J, Hinney A, Leppä VM, Mattheisen M, Medland SE, Ripke S, Yao S, Giusti-Rodríguez P; Anorexia Nervosa Genetics Initiative; Hanscombe KB, Purves KL; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Adan RAH, Alfredsson L, Ando T, Andreassen OA, Baker JH, Berrettini WH, Boehm I, Boni C, Perica VB, Buehren K, Burghardt R, Cassina M, Cichon S, Clementi M, Cone RD, Courtet P, Crow S, Crowley JJ, Danner UN, Davis OSP, de Zwaan M, Dedoussis G, Degortes D, DeSocio JE, Dick DM, Dikeos D, Dina C, Dmitrzak-Weglarz M, Docampo E, Duncan LE, Egberts K, Ehrlich S, Escaramís G, Esko T, Estivill X, Farmer A, Favaro A, Fernández-Aranda F, Fichter MM, Fischer K, Föcker M, Foretova L, Forstner AJ, Forzan M, Franklin CS, Gallinger S, Giegling I, Giuranna J, Gonidakis F, Gorwood P, Mayora MG, Guillaume S, Guo Y, Hakonarson H, Hatzikotoulas K, Hauser J, Hebebrand J, Helder SG, Herms S, Herpertz-Dahlmann B, Herzog W, Huckins LM, Hudson JI, Imgart H, Inoko H, Janout V, Jiménez-Murcia S, Julià A, Kalsi G, Kaminská D, Kaprio J, Karhunen L, Karwautz A, Kas MJH, Kennedy JL, Keski-Rahkonen A, Kiezebrink K, Kim YR, K… See abstract for full author list ➔ Watson HJ, et al. Nat Genet. 2019 Aug;51(8):1207-1214. doi: 10.1038/s41588-019-0439-2. Epub 2019 Jul 15. Nat Genet. 2019. PMID: 31308545 Free PMC article.
Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa.
Yilmaz Z, Szatkiewicz JP, Crowley JJ, Ancalade N, Brandys MK, van Elburg A, de Kovel CGF, Adan RAH, Hinney A, Hebebrand J, Gratacos M, Fernandez-Aranda F, Escaramis G, Gonzalez JR, Estivill X; Genetic Consortium for Anorexia Nervosa, Wellcome Trust Case Control Consortium 3; Zeggini E, Sullivan PF, Bulik CM. Yilmaz Z, et al. Psychiatr Genet. 2017 Aug;27(4):152-158. doi: 10.1097/YPG.0000000000000172. Psychiatr Genet. 2017. PMID: 28368970 Free PMC article.
A New Method for Detecting Associations with Rare Copy-Number Variants.
Tzeng JY, Magnusson PK, Sullivan PF; Swedish Schizophrenia Consortium; Szatkiewicz JP. Tzeng JY, et al. PLoS Genet. 2015 Oct 2;11(10):e1005403. doi: 10.1371/journal.pgen.1005403. eCollection 2015 Oct. PLoS Genet. 2015. PMID: 26431523 Free PMC article.