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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Sønderby IE, van der Meer D, Moreau C, Kaufmann T, Walters GB, Ellegaard M, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Bøen R, Cahn W, Calhoun VD, Caspers S, Ching CRK, Cichon S, Ciufolini S, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Desrivieres S, Doherty JL, Donohoe G, Draganski B, Ehrlich S, Eising E, Espeseth T, Fejgin K, Fisher SE, Fladby T, Frei O, Frouin V, Fukunaga M, Gareau T, Ge T, Glahn DC, Grabe HJ, Groenewold NA, Gústafsson Ó, Haavik J, Haberg AK, Hall J, Hashimoto R, Hehir-Kwa JY, Hibar DP, Hillegers MHJ, Hoffmann P, Holleran L, Holmes AJ, Homuth G, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Jahanshad N, Jockwitz C, Johansson S, Jönsson EG, Jørgensen NR, Kikuchi M, Knowles EEM, Kumar K, Le Hellard S, Leu C, Linden DEJ, Liu J, Lundervold A, Lundervold AJ, Maillard AM, Martin NG, Martin-Brevet S, Mather KA, Mathias SR, McMahon KL, McRae AF, Medland SE, Meyer-Lindenberg A, Moberget T, Modenato C, Sánchez JM, Morris DW, Mühleisen TW, Murray RM, Nielsen J, Nordvik JE, Nyberg L, Loohuis LMO, Ophoff RA, Owen MJ, Pau… See abstract for full author list ➔ Sønderby IE, et al. Among authors: hoffmann p. Transl Psychiatry. 2021 Mar 22;11(1):182. doi: 10.1038/s41398-021-01213-0. Transl Psychiatry. 2021. PMID: 33753722 Free PMC article.
Brief report: no association between premorbid adjustment in adult-onset schizophrenia and genetic variation in Dysbindin.
Schirmbeck F, Georgi A, Strohmaier J, Schmael C, Boesshenz KV, Mühleisen TW, Herms S, Hoffmann P, Jamra RA, Schumacher J, Maier W, Propping P, Nöthen MM, Cichon S, Rietschel M, Schulze TG. Schirmbeck F, et al. Among authors: hoffmann p. J Autism Dev Disord. 2008 Nov;38(10):1977-81. doi: 10.1007/s10803-008-0582-6. Epub 2008 May 13. J Autism Dev Disord. 2008. PMID: 18473158
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: hoffmann p. 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.
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
Pagnamenta AT, Bacchelli E, de Jonge MV, Mirza G, Scerri TS, Minopoli F, Chiocchetti A, Ludwig KU, Hoffmann P, Paracchini S, Lowy E, Harold DH, Chapman JA, Klauck SM, Poustka F, Houben RH, Staal WG, Ophoff RA, O'Donovan MC, Williams J, Nöthen MM, Schulte-Körne G, Deloukas P, Ragoussis J, Bailey AJ, Maestrini E, Monaco AP; International Molecular Genetic Study Of Autism Consortium. Pagnamenta AT, et al. Among authors: hoffmann p. Biol Psychiatry. 2010 Aug 15;68(4):320-8. doi: 10.1016/j.biopsych.2010.02.002. Epub 2010 Mar 26. Biol Psychiatry. 2010. PMID: 20346443 Free PMC article.
Association between copy number variants in 16p11.2 and major depressive disorder in a German case-control sample.
Degenhardt F, Priebe L, Herms S, Mattheisen M, Mühleisen TW, Meier S, Moebus S, Strohmaier J, Groß M, Breuer R, Lange C, Hoffmann P, Meyer-Lindenberg A, Heinz A, Walter H, Lucae S, Wolf C, Müller-Myhsok B, Holsboer F, Maier W, Rietschel M, Nöthen MM, Cichon S. Degenhardt F, et al. Among authors: hoffmann p. Am J Med Genet B Neuropsychiatr Genet. 2012 Apr;159B(3):263-73. doi: 10.1002/ajmg.b.32034. Epub 2012 Feb 17. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22344817
Association between schizophrenia and common variation in neurocan (NCAN), a genetic risk factor for bipolar disorder.
Mühleisen TW, Mattheisen M, Strohmaier J, Degenhardt F, Priebe L, Schultz CC, Breuer R, Meier S, Hoffmann P; GROUP Investigators; Rivandeneira F, Hofman A, Uitterlinden AG, Moebus S, Gieger C, Emeny R, Ladwig KH, Wichmann HE, Schwarz M, Kammerer-Ciernioch J, Schlösser RG, Nenadic I, Sauer H, Mössner R, Maier W, Rujescu D, Lange C, Ophoff RA, Schulze TG, Rietschel M, Nöthen MM, Cichon S. Mühleisen TW, et al. Among authors: hoffmann p. Schizophr Res. 2012 Jun;138(1):69-73. doi: 10.1016/j.schres.2012.03.007. Epub 2012 Apr 11. Schizophr Res. 2012. PMID: 22497794
Genetic variation at the synaptic vesicle gene SV2A is associated with schizophrenia.
Mattheisen M, Mühleisen TW, Strohmaier J, Treutlein J, Nenadic I, Alblas M, Meier S, Degenhardt F, Herms S, Hoffmann P, Witt SH, Giegling I, Sauer H, Schulze TG, Rujescu D, Nöthen MM, Rietschel M, Cichon S. Mattheisen M, et al. Among authors: hoffmann p. Schizophr Res. 2012 Nov;141(2-3):262-5. doi: 10.1016/j.schres.2012.08.027. Epub 2012 Sep 24. Schizophr Res. 2012. PMID: 23017826
No evidence for an involvement of copy number variation in ABCA13 in schizophrenia, bipolar disorder, or major depressive disorder.
Degenhardt F, Priebe L, Strohmaier J, Herms S, Hoffmann P, Mattheisen M, Mössner R, Nenadic I, Sauer H, Rujescu D, Maier W, Schulze TG, Rietschel M, Nöthen MM, Cichon S. Degenhardt F, et al. Among authors: hoffmann p. Psychiatr Genet. 2013 Feb;23(1):45-6. doi: 10.1097/YPG.0b013e328358645b. Psychiatr Genet. 2013. PMID: 23250005 No abstract available.
Copy number variants in German patients with schizophrenia.
Priebe L, Degenhardt F, Strohmaier J, Breuer R, Herms S, Witt SH, Hoffmann P, Kulbida R, Mattheisen M, Moebus S, Meyer-Lindenberg A, Walter H, Mössner R, Nenadic I, Sauer H, Rujescu D, Maier W, Rietschel M, Nöthen MM, Cichon S. Priebe L, et al. Among authors: hoffmann p. PLoS One. 2013 Jul 2;8(7):e64035. doi: 10.1371/journal.pone.0064035. Print 2013. PLoS One. 2013. PMID: 23843933 Free PMC article.
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.
Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, Douben H, Van Opstal D, Wijnen RM, Beverloo HB, van Bever Y, Brooks AS, IJsselstijn H, Scott DA, Schumacher J, Tibboel D, Reutter H, de Klein A. Brosens E, et al. Among authors: hoffmann p. Eur J Hum Genet. 2016 Dec;24(12):1715-1723. doi: 10.1038/ejhg.2016.86. Epub 2016 Jul 20. Eur J Hum Genet. 2016. PMID: 27436264 Free PMC article.
1,657 results