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Page 1
Increased paternal age and the influence on burden of genomic copy number variation in the general population.
Buizer-Voskamp JE, Blauw HM, Boks MP, van Eijk KR, Veldink JH, Hennekam EA, Vorstman JA, Mulder F, Tiemeier H, Uitterlinden AG, Kiemeney LA, van den Berg LH, Kahn RS, Sabatti C, Ophoff RA. Buizer-Voskamp JE, et al. Among authors: sabatti c. Hum Genet. 2013 Apr;132(4):443-50. doi: 10.1007/s00439-012-1261-4. Epub 2013 Jan 13. Hum Genet. 2013. PMID: 23315237 Clinical Trial.
Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients.
Buizer-Voskamp JE, Muntjewerff JW; Genetic Risk and Outcome in Psychosis (GROUP) Consortium Members; Strengman E, Sabatti C, Stefansson H, Vorstman JA, Ophoff RA. Buizer-Voskamp JE, et al. Among authors: sabatti c. Biol Psychiatry. 2011 Oct 1;70(7):655-62. doi: 10.1016/j.biopsych.2011.02.015. Epub 2011 Apr 13. Biol Psychiatry. 2011. PMID: 21489405 Free PMC article.
Recurrent CNVs disrupt three candidate genes in schizophrenia patients.
Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E; Genetic Risk and Outcome in Psychosis (GROUP) Consortium; Sabatti C, Geurts van Kessel A, Brunner HG, Ophoff RA, Veltman JA. Vrijenhoek T, et al. Among authors: sabatti c. Am J Hum Genet. 2008 Oct;83(4):504-10. doi: 10.1016/j.ajhg.2008.09.011. Am J Hum Genet. 2008. PMID: 18940311 Free PMC article.
Disruption of the neurexin 1 gene is associated with schizophrenia.
Rujescu D, Ingason A, Cichon S, Pietiläinen OP, Barnes MR, Toulopoulou T, Picchioni M, Vassos E, Ettinger U, Bramon E, Murray R, Ruggeri M, Tosato S, Bonetto C, Steinberg S, Sigurdsson E, Sigmundsson T, Petursson H, Gylfason A, Olason PI, Hardarsson G, Jonsdottir GA, Gustafsson O, Fossdal R, Giegling I, Möller HJ, Hartmann AM, Hoffmann P, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Djurovic S, Melle I, Andreassen OA, Hansen T, Werge T, Kiemeney LA, Franke B, Veltman J, Buizer-Voskamp JE; GROUP Investigators; Sabatti C, Ophoff RA, Rietschel M, Nöthen MM, Stefansson K, Peltonen L, St Clair D, Stefansson H, Collier DA. Rujescu D, et al. Among authors: sabatti c. Hum Mol Genet. 2009 Mar 1;18(5):988-96. doi: 10.1093/hmg/ddn351. Epub 2008 Oct 22. Hum Mol Genet. 2009. PMID: 18945720 Free PMC article.
Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.
Sul JH, Service SK, Huang AY, Ramensky V, Hwang SG, Teshiba TM, Park Y, Ori APS, Zhang Z, Mullins N, Olde Loohuis LM, Fears SC, Araya C, Araya X, Spesny M, Bejarano J, Ramirez M, Castrillón G, Gomez-Makhinson J, Lopez MC, Montoya G, Montoya CP, Aldana I, Escobar JI, Ospina-Duque J, Kremeyer B, Bedoya G, Ruiz-Linares A, Cantor RM, Molina J, Coppola G, Ophoff RA, Macaya G, Lopez-Jaramillo C, Reus V, Bearden CE, Sabatti C, Freimer NB. Sul JH, et al. Among authors: sabatti c. Transl Psychiatry. 2020 Feb 24;10(1):74. doi: 10.1038/s41398-020-0758-1. Transl Psychiatry. 2020. PMID: 32094344 Free PMC article.
Large recurrent microdeletions associated with schizophrenia.
Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Möller HJ, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, Mühleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B; GROUP; Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, Nöthen MM, Peltonen L, Collier DA, St Clair D, Stefansson K. Stefansson H, et al. Among authors: sabatti c. Nature. 2008 Sep 11;455(7210):232-6. doi: 10.1038/nature07229. Nature. 2008. PMID: 18668039 Free PMC article.
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, Pramstaller PP, Penninx BW, Janssens AC, Wilson JF, Spector T, Martin NG, Pedersen NL, Kyvik KO, Kaprio J, Hofman A, Freimer NB, Jarvelin MR, Gyllensten U, Campbell H, Rudan I, Johansson A, Marroni F, Hayward C, Vitart V, Jonasson I, Pattaro C, Wright A, Hastie N, Pichler I, Hicks AA, Falchi M, Willemsen G, Hottenga JJ, de Geus EJ, Montgomery GW, Whitfield J, Magnusson P, Saharinen J, Perola M, Silander K, Isaacs A, Sijbrands EJ, Uitterlinden AG, Witteman JC, Oostra BA, Elliott P, Ruokonen A, Sabatti C, Gieger C, Meitinger T, Kronenberg F, Döring A, Wichmann HE, Smit JH, McCarthy MI, van Duijn CM, Peltonen L; ENGAGE Consortium. Aulchenko YS, et al. Among authors: sabatti c. Nat Genet. 2009 Jan;41(1):47-55. doi: 10.1038/ng.269. Epub 2008 Dec 7. Nat Genet. 2009. PMID: 19060911 Free PMC article.
Phenotype mining in CNV carriers from a population cohort.
Pietiläinen OP, Rehnström K, Jakkula E, Service SK, Congdon E, Tilgmann C, Hartikainen AL, Taanila A, Heikura U, Paunio T, Ripatti S, Jarvelin MR, Isohanni M, Sabatti C, Palotie A, Freimer NB, Peltonen L. Pietiläinen OP, et al. Among authors: sabatti c. Hum Mol Genet. 2011 Jul 1;20(13):2686-95. doi: 10.1093/hmg/ddr162. Epub 2011 Apr 19. Hum Mol Genet. 2011. PMID: 21505072 Free PMC article.
125 results