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Items: 1 to 20 of 157

1.

Use of schizophrenia and bipolar disorder polygenic risk scores to identify psychotic disorders.

Calafato MS, Thygesen JH, Ranlund S, Zartaloudi E, Cahn W, Crespo-Facorro B, Díez-Revuelta Á, Di Forti M; Genetic Risk and Outcome of Psychosis (GROUP) consortium, Hall MH, Iyegbe C, Jablensky A, Kahn R, Kalaydjieva L, Kravariti E, Lin K, McDonald C, McIntosh AM, McQuillin A, Picchioni M, Rujescu D, Shaikh M, Toulopoulou T, Os JV, Vassos E, Walshe M, Powell J, Lewis CM, Murray RM, Bramon E.

Br J Psychiatry. 2018 Sep;213(3):535-541. doi: 10.1192/bjp.2018.89.

PMID:
30113282
2.

Age at first birth in women is genetically associated with increased risk of schizophrenia.

Ni G, Gratten J, Wray NR, Lee SH; Schizophrenia Working Group of the Psychiatric Genomics Consortium.

Sci Rep. 2018 Jul 5;8(1):10168. doi: 10.1038/s41598-018-28160-z.

3.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C.

Neurology. 2018 Jul 24;91(4):e339-e348. doi: 10.1212/WNL.0000000000005862. Epub 2018 Jun 27.

PMID:
29950440
4.

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.

Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu; Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium.

Cell. 2018 Jun 14;173(7):1705-1715.e16. doi: 10.1016/j.cell.2018.05.046.

PMID:
29906448
5.

Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood.

Ni G, Moser G; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Wray NR, Lee SH.

Am J Hum Genet. 2018 Jun 7;102(6):1185-1194. doi: 10.1016/j.ajhg.2018.03.021. Epub 2018 May 10.

6.

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

Thomson BR, Souma T, Tompson SW, Onay T, Kizhatil K, Siggs OM, Feng L, Whisenhunt KN, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Tanna CE, Hewitt AW, Mackey DA, Bradfield YS, Souzeau E, Javadiyan S, Wiggs JL, Pasutto F, Liu X, John SW, Craig JE, Jin J, Young TL, Quaggin SE.

J Clin Invest. 2017 Dec 1;127(12):4421-4436. doi: 10.1172/JCI95545. Epub 2017 Nov 6.

7.

Associations between psychosis endophenotypes across brain functional, structural, and cognitive domains.

Blakey R, Ranlund S, Zartaloudi E, Cahn W, Calafato S, Colizzi M, Crespo-Facorro B, Daniel C, Díez-Revuelta Á, Di Forti M; GROUP, Iyegbe C, Jablensky A, Jones R, Hall MH, Kahn R, Kalaydjieva L, Kravariti E, Lin K, McDonald C, McIntosh AM, Picchioni M, Powell J, Presman A, Rujescu D, Schulze K, Shaikh M, Thygesen JH, Toulopoulou T, Van Haren N, Van Os J, Walshe M, Murray RM, Bramon E.

Psychol Med. 2018 Jun;48(8):1325-1340. doi: 10.1017/S0033291717002860. Epub 2017 Nov 2.

PMID:
29094675
8.

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS; Recessive H-ABC Research Group.

Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20.

9.

A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains.

Ranlund S, Calafato S, Thygesen JH, Lin K, Cahn W, Crespo-Facorro B, de Zwarte SMC, Díez Á, Di Forti M; GROUP, Iyegbe C, Jablensky A, Jones R, Hall MH, Kahn R, Kalaydjieva L, Kravariti E, McDonald C, McIntosh AM, McQuillin A; PEIC, Picchioni M, Prata DP, Rujescu D, Schulze K, Shaikh M, Toulopoulou T, van Haren N, van Os J, Vassos E, Walshe M; WTCCC2, Lewis C, Murray RM, Powell J, Bramon E.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):21-34. doi: 10.1002/ajmg.b.32581. Epub 2017 Aug 29.

10.

Congenital Cataracts, Facial Dysmorphism, and Neuropathy.

Kalaydjieva L, Chamova T.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Mar 2 [updated 2017 Apr 6].

11.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.

McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH; Project MinE GWAS Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium.

Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774.

12.

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA Jr, Bergen SE, Bertalan M, Bevilacqua E, Bigdeli TB, Black DW, Bruggeman R, Buccola NG, Buckner RL, Bulik-Sullivan B, Byerley W, Cahn W, Cai G, Cairns MJ, Campion D, Cantor RM, Carr VJ, Carrera N, Catts SV, Chambert KD, Cheng W, Cloninger CR, Cohen D, Cormican P, Craddock N, Crespo-Facorro B, Crowley JJ, Curtis D, Davidson M, Davis KL, Degenhardt F, Del Favero J, DeLisi LE, Dikeos D, Dinan T, Djurovic S, Donohoe G, Drapeau E, Duan J, Dudbridge F, Eichhammer P, Eriksson J, Escott-Price V, Essioux L, Fanous AH, Farh KH, Farrell MS, Frank J, Franke L, Freedman R, Freimer NB, Friedman JI, Forstner AJ, Fromer M, Genovese G, Georgieva L, Gershon ES, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, Gratten J, de Haan L, Hamshere ML, Hansen M, Hansen T, Haroutunian V, Hartmann AM, Henskens FA, Herms S, Hirschhorn JN, Hoffmann P, Hofman A, Huang H, Ikeda M, Joa I, Kähler AK, Kahn RS, Kalaydjieva L, Karjalainen J, Kavanagh D, Keller MC, Kelly BJ, Kennedy JL, Kim Y, Knowles JA, Konte B, Laurent C, Lee P, Lee SH, Legge SE, Lerer B, Levy DL, Liang KY, Lieberman J, Lönnqvist J, Loughland CM, Magnusson PKE, Maher BS, Maier W, Mallet J, Mattheisen M, Mattingsdal M, McCarley RW, McDonald C, McIntosh AM, Meier S, Meijer CJ, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mokrab Y, Morris DW, Müller-Myhsok B, Murphy KC, Murray RM, Myin-Germeys I, Nenadic I, Nertney DA, Nestadt G, Nicodemus KK, Nisenbaum L, Nordin A, O'Callaghan E, O'Dushlaine C, Oh SY, Olincy A, Olsen L, O'Neill FA, Van Os J, Pantelis C, Papadimitriou GN, Parkhomenko E, Pato MT, Paunio T; Psychosis Endophenotypes International Consortium, Perkins DO, Pers TH, Pietiläinen O, Pimm J, Pocklington AJ, Powell J, Price A, Pulver AE, Purcell SM, Quested D, Rasmussen HB, Reichenberg A, Reimers MA, Richards AL, Roffman JL, Roussos P, Ruderfer DM, Salomaa V, Sanders AR, Savitz A, Schall U, Schulze TG, Schwab SG, Scolnick EM, Scott RJ, Seidman LJ, Shi J, Silverman JM, Smoller JW, Söderman E, Spencer CCA, Stahl EA, Strengman E, Strohmaier J, Stroup TS, Suvisaari J, Svrakic DM, Szatkiewicz JP, Thirumalai S, Tooney PA, Veijola J, Visscher PM, Waddington J, Walsh D, Webb BT, Weiser M, Wildenauer DB, Williams NM, Williams S, Witt SH, Wolen AR, Wormley BK, Wray NR, Wu JQ, Zai CC, Adolfsson R, Andreassen OA, Blackwood DHR, Bramon E, Buxbaum JD, Cichon S, Collier DA, Corvin A, Daly MJ, Darvasi A, Domenici E, Esko T, Gejman PV, Gill M, Gurling H, Hultman CM, Iwata N, Jablensky AV, Jönsson EG, Kendler KS, Kirov G, Knight J, Levinson DF, Li QS, McCarroll SA, McQuillin A, Moran JL, Mowry BJ, Nöthen MM, Ophoff RA, Owen MJ, Palotie A, Pato CN, Petryshen TL, Posthuma D, Rietschel M, Riley BP, Rujescu D, Sklar P, St Clair D, Walters JTR, Werge T, Sullivan PF, O'Donovan MC, Scherer SW, Neale BM, Sebat J; CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium.

Nat Genet. 2017 Jan;49(1):27-35. doi: 10.1038/ng.3725. Epub 2016 Nov 21. Erratum in: Nat Genet. 2017 Sep 27;49(10 ):1558. Nat Genet. 2017 Mar 30;49(4):651.

13.

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.

Mišković ND, Domingo A, Dobričić V, Max C, Braenne I, Petrović I, Grütz K, Pawlack H, Tournev I, Kalaydjieva L, Svetel M, Lohmann K, Kostić VS, Westenberger A.

Mov Disord. 2016 Dec;31(12):1929-1931. doi: 10.1002/mds.26816. Epub 2016 Oct 27. No abstract available.

PMID:
27787937
14.

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.

Azmanov DN, Siira SJ, Chamova T, Kaprelyan A, Guergueltcheva V, Shearwood AJ, Liu G, Morar B, Rackham O, Bynevelt M, Grudkova M, Kamenov Z, Svechtarov V, Tournev I, Kalaydjieva L, Filipovska A.

Hum Mol Genet. 2016 Oct 1;25(19):4302-4314. doi: 10.1093/hmg/ddw263. Epub 2016 Aug 9.

PMID:
27506977
15.

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL.

J Clin Invest. 2016 Jul 1;126(7):2575-87. doi: 10.1172/JCI85830. Epub 2016 Jun 6.

16.

The AQP1 del601G mutation in different European Romani (Gypsy) populations.

Flesch BK, Morar B, Comas D, Muñiz-Diaz E, Nogués N, Kalaydjieva L.

Blood Transfus. 2016 Nov;14(6):580-581. doi: 10.2450/2016.0274-15. Epub 2016 May 11. No abstract available.

17.

Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.

Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJE, Arias-Vasquez A, Smoller JW, Nichols TE, Neale MC, McIntosh AM, Lee P, McMahon FJ, Meyer-Lindenberg A, Mattheisen M, Andreassen OA, Gruber O, Sachdev PS, Roiz-Santiañez R, Saykin AJ, Ehrlich S, Mather KA, Turner JA, Schwarz E, Thalamuthu A, Shugart YY, Ho YY, Martin NG, Wright MJ; Schizophrenia Working Group of the Psychiatric Genomics Consortium; ENIGMA Consortium, O'Donovan MC, Thompson PM, Neale BM, Medland SE, Sullivan PF.

Nat Neurosci. 2016 Mar;19(3):420-431. doi: 10.1038/nn.4228. Epub 2016 Feb 1.

18.

Schizophrenia risk from complex variation of complement component 4.

Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Daly MJ, Carroll MC, Stevens B, McCarroll SA.

Nature. 2016 Feb 11;530(7589):177-83. doi: 10.1038/nature16549. Epub 2016 Jan 27.

19.

Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness.

Bigdeli TB, Ripke S, Bacanu SA, Lee SH, Wray NR, Gejman PV, Rietschel M, Cichon S, St Clair D, Corvin A, Kirov G, McQuillin A, Gurling H, Rujescu D, Andreassen OA, Werge T, Blackwood DH, Pato CN, Pato MT, Malhotra AK, O'Donovan MC, Kendler KS, Fanous AH; Schizophrenia Working Group of the Psychiatric Genomics Consortium.

Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):276-89. doi: 10.1002/ajmg.b.32402. Epub 2015 Dec 11.

20.

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis.

Loh PR, Bhatia G, Gusev A, Finucane HK, Bulik-Sullivan BK, Pollack SJ; Schizophrenia Working Group of Psychiatric Genomics Consortium, de Candia TR, Lee SH, Wray NR, Kendler KS, O'Donovan MC, Neale BM, Patterson N, Price AL.

Nat Genet. 2015 Dec;47(12):1385-92. doi: 10.1038/ng.3431. Epub 2015 Nov 2.

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