Publikationen 2014

Wissenschaftliche Originalarbeiten

 

1. AlChawa T*, Ludwig KU*, Fier H, Pötzsch B, Reich RH, Schmidt G, Braumann B, Daratsianos N, Böhmer AC, Schuencke H, Alblas M, Fricker N, Hoffmann P, Knapp M, Lange C, Nöthen MM, Mangold E (2014) Nonsyndromic cleft lip with or without cleft palate: increased burden of rare variants within Gremlin-1, a component of the BMP4 pathway. Birth Defects Research Part A: Clinical and Molecular Teratology 100:493-498. *These authors contributed equally to this work.
   
   
2. Aldhorae KA*, Böhmer AC*, Ludwig KU, Ali Esmail AH, Al-Hebshi NN, Lippke B, Gölz L, Nöthen MM, Daratsianos N, Knapp M, Jäger A, Mangold E (2014) Nonsyndromic cleft lip with or without cleft palate in Arab populations: Genetic analysis of 15 risk loci in a novel case-control sample recruited in Yemen. Birth Defects Research Part A 100:307-313. *These authors contributed equally to this work.
   
   
3. Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M (2014) MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. European Journal of Human Genetics 22:923-929.
   
   
4. Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai ÅT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J; CARe Consortium; COGENT Consortium, Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ; DCCT/EDIC, Arnar DO, Hólm H, Thorsteinsdottir U; eMERGE Consortium, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jöckel KH, Kälsch H, Nöthen MM; HRGEN Consortium, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del Greco M F, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orrú M, Schlessinger D, Uda M, Markus MR, Völker U, Snieder H, Spector TD, Ärnlöv J, Lind L, Sundström J, Syvänen AC, Kivimaki M, Kähönen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Mühleisen TW, Pramstaller PP, Lehtimäki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kääb S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PI, Newton-Cheh C (2014) Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nature Genetics 46:826-836.
   

5. Basmanav FB*, Oprisoreanu AM*, Pasternack SM*, Thiele H, Fritz G, Wenzel J, Größer L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmüller J, Rütten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nürnberg P, Kruse R, Schoch S, Hanneken S, Betz RC (2014) Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. American Journal of Human Genetics 94:135-143. *These authors contributed equally to this work.
   

6. Becker J, Czamara D, Scerri TS, Ramus F, Csépe V, Talcott JB, Stein J, Morris A, Ludwig KU, Hoffmann P, Honbolygó F, Tóth D, Fauchereau F, Bogliotti C, Iannuzzi S, Chaix Y, Valdois S, Billard C, George F, Soares-Boucaud I, Gérard CL, van der Mark S, Schulz E, Vaessen A, Maurer U, Lohvansuu K, Lyytinen H, Zucchelli M, Brandeis D, Blomert L, Leppänen PH, Bruder J, Monaco AP, Müller-Myhsok B, Kere J, Landerl K, Nöthen MM, Schulte-Körne G, Paracchini S, Peyrard-Janvid M, Schumacher J (2014). Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort. European Journal of Human Genetics 22:675-680.
   

7. Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan RA, Kas MJ, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, Rybakowski F, Dmitrzak-Weglarz M, Kaprio J, Keski-Rahkonen A, Raevuori A, Van Furth EF, Slof-Op 't Landt MC, Hudson JI, Reichborn-Kjennerud T, Knudsen GP, Monteleone P, Kaplan AS, Karwautz A, Hakonarson H, Berrettini WH, Guo Y, Li D, Schork NJ, Komaki G, Ando T, Inoko H, Esko T, Fischer K, Männik K, Metspalu A, Baker JH, Cone RD, Dackor J, DeSocio JE, Hilliard CE, O'Toole JK, Pantel J, Szatkiewicz JP, Taico C, Zerwas S, Trace SE, Davis OS, Helder S, Bühren K, Burghardt R, de Zwaan M, Egberts K, Ehrlich S, Herpertz-Dahlmann B, Herzog W, Imgart H, Scherag A, Scherag S, Zipfel S, Boni C, Ramoz N, Versini A, Brandys MK, Danner UN, de Kovel C, Hendriks J, Koeleman BP, Ophoff RA, Strengman E, van Elburg AA, Bruson A, Clementi M, Degortes D, Forzan M, Tenconi E, Docampo E, Escaramís G, Jiménez-Murcia S, Lissowska J, Rajewski A, Szeszenia-Dabrowska N, Slopien A, Hauser J, Karhunen L, Meulenbelt I, Slagboom PE, Tortorella A, Maj M, Dedoussis G, Dikeos D, Gonidakis F, Tziouvas K, Tsitsika A, Papezova H, Slachtova L, Martaskova D, Kennedy JL, Levitan RD, Yilmaz Z, Huemer J, Koubek D, Merl E, Wagner G, Lichtenstein P, Breen G, Cohen-Woods S, Farmer A, McGuffin P, Cichon S, Giegling I, Herms S, Rujescu D, Schreiber S, Wichmann HE, Dina C, Sladek R, Gambaro G, Soranzo N, Julia A, Marsal S, Rabionet R, Gaborieau V, Dick DM, Palotie A, Ripatti S, Widén E, Andreassen OA, Espeseth T, Lundervold A, Reinvang I, Steen VM, Le Hellard S, Mattingsdal M, Ntalla I, Bencko V, Foretova L, Janout V, Navratilova M, Gallinger S, Pinto D, Scherer SW, Aschauer H, Carlberg L, Schosser A, Alfredsson L, Ding B, Klareskog L, Padyukov L, Courtet P, Guillaume S, Jaussent I, Finan C, Kalsi G, Roberts M, Logan DW, Peltonen L, Ritchie GR, Barrett JC; Wellcome Trust Case Control Consortium 3, Estivill X, Hinney A, Sullivan PF, Collier DA, Zeggini E, Bulik CM (2014) A genome-wide association study of anorexia nervosa. Molecular Psychiatry 19:1085-1094.
   

8. Børglum AD, Demontis D, Grove J, Pallesen J, Hollegaard MV, Pedersen CB, Hedemand A, Mattheisen M; GROUP investigators10, Uitterlinden A, Nyegaard M, Ørntoft T, Wiuf C, Didriksen M, Nordentoft M, Nöthen MM, Rietschel M, Ophoff RA, Cichon S, Yolken RH, Hougaard DM, Mortensen PB, Mors O (2014) Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci. Molecular Psychiatry 19:325-333.
   

9. Bureau A, Parker MM, Ruczinski I, Taub MA, Marazita ML, Murray JC, Mangold E, Noethen MM, Ludwig KU, Bailey-Wilson JE, Cropp CD, Li Q, Szymczak S, Hetmanski JB, Albacha-Hejazi H, Field LL, Doheny KF, Ling H, Scott A, Beaty TH (2014) Whole exome sequencing of distant relatives drawn from multiplex families identifies novel potentially damaging variants for oral clefts. Genetics 197:1039-1044.
   

10. Bureau A, Younkin SG, Parker MM, Bailey-Wilson JE, Marazita ML, Murray JC, Mangold E, Albacha-Hejazi H, Beaty TH, Ruczinski I (2014) Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives. Bioinformatics 30:2189-2196.
    

11. Caspers S, Moebus S, Lux S, Pundt N, Schütz H, Mühleisen TW, Gras V, Eickhoff SB, Romanzetti S, Stöcker T, Stirnberg R, Kirlangic ME, Minnerop M, Pieperhoff P, Mödder U, Das S, Evans AC, Jöckel KH, Erbel R, Cichon S, Nöthen MM, Sturma D, Bauer A, Jon Shah N, Zilles K, Amunts K (2014) Studying variability in human brain aging in a population-based German cohort-rationale and design of 1000BRAINS. Frontiers in Aging Neuroscience 6:149. doi: 10.3389/fnagi.2014.00149.
    

12. Charignon D, Ghannam A, Defendi F, Ponard D, Monnier N, López Trascasa M, Launay D, Caballero T, Djenouhat K, Fain O, Cichon S, Martin L, Drouet C (2014) Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype. Allergy 69:1659-1665.
    

13. Choi S, Lee S, Cichon S, Nöthen MM, Lange C, Park T, Won S (2014) FARVAT: a family-based rare variant association test. Bioinformatics 30:3197-3205.
    

14. Christoforou A, Espeseth T, Davies G, Fernandes CP, Giddaluru S, Mattheisen M, Tenesa A, Harris SE, Liewald DC, Payton A, Ollier W, Horan M, Pendleton N, Haggarty P, Djurovic S, Herms S, Hoffman P, Cichon S, Starr JM, Lundervold A, Reinvang I, Steen VM, Deary IJ, Le Hellard S (2014) GWAS-based pathway analysis differentiates between fluid and crystallized intelligence. Genes Brain and Behavior 13: 663-674.
    

15. Consortium on Lithium Genetics [Cichon S, Degenhardt F, Hoffmann P, Nöthen M] (2014) Variant GADL1 and response to lithium in bipolar I disorder. New England Journal of Medicine 370:1857-1859.
    

16. Cooper PE*, Reutter H*, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG (2014) Cantú syndrome resulting from activating mutation in the KCNJ8 Gene. Human Mutations 35:809-813. *These authors contributed equally to this work.
    

17. Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group [Betz RC]. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. (2014) Orphanet Journal of Rare Diseases 9:74.
    

18. DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium; Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium; South Asian Type 2 Diabetes (SAT2D) Consortium; Mexican American Type 2 Diabetes (MAT2D) Consortium; Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium, Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, Ferreira T, Horikoshi M, Johnson AD, Ng MC, Prokopenko I, Saleheen D, Wang X, Zeggini E, Abecasis GR, Adair LS, Almgren P, Atalay M, Aung T, Baldassarre D, Balkau B, Bao Y, Barnett AH, Barroso I, Basit A, Been LF, Beilby J, Bell GI, Benediktsson R, Bergman RN, Boehm BO, Boerwinkle E, Bonnycastle LL, Burtt N, Cai Q, Campbell H, Carey J, Cauchi S, Caulfield M, Chan JC, Chang LC, Chang TJ, Chang YC, Charpentier G, Chen CH, Chen H, Chen YT, Chia KS, Chidambaram M, Chines PS, Cho NH, Cho YM, Chuang LM, Collins FS, Cornelis MC, Couper DJ, Crenshaw AT, van Dam RM, Danesh J, Das D, de Faire U, Dedoussis G, Deloukas P, Dimas AS, Dina C, Doney AS, Donnelly PJ, Dorkhan M, van Duijn C, Dupuis J, Edkins S, Elliott P, Emilsson V, Erbel R, Eriksson JG, Escobedo J, Esko T, Eury E, Florez JC, Fontanillas P, Forouhi NG, Forsen T, Fox C, Fraser RM, Frayling TM, Froguel P, Frossard P, Gao Y, Gertow K, Gieger C, Gigante B, Grallert H, Grant GB, Grrop LC, Groves CJ, Grundberg E, Guiducci C, Hamsten A, Han BG, Hara K, Hassanali N, Hattersley AT, Hayward C, Hedman AK, Herder C, Hofman A, Holmen OL, Hovingh K, Hreidarsson AB, Hu C, Hu FB, Hui J, Humphries SE, Hunt SE, Hunter DJ, Hveem K, Hydrie ZI, Ikegami H, Illig T, Ingelsson E, Islam M, Isomaa B, Jackson AU, Jafar T, James A, Jia W, Jöckel KH, Jonsson A, Jowett JB, Kadowaki T, Kang HM, Kanoni S, Kao WH, Kathiresan S, Kato N, Katulanda P, Keinanen-Kiukaanniemi KM, Kelly AM, Khan H, Khaw KT, Khor CC, Kim HL, Kim S, Kim YJ, Kinnunen L, Klopp N, Kong A, Korpi-Hyövälti E, Kowlessur S, Kraft P, Kravic J, Kristensen MM, Krithika S, Kumar A, Kumate J, Kuusisto J, Kwak SH, Laakso M, Lagou V, Lakka TA, Langenberg C, Langford C, Lawrence R, Leander K, Lee JM, Lee NR, Li M, Li X, Li Y, Liang J, Liju S, Lim WY, Lind L, Lindgren CM, Lindholm E, Liu CT, Liu JJ, Lobbens S, Long J, Loos RJ, Lu W, Luan J, Lyssenko V, Ma RC, Maeda S, Mägi R, Männisto S, Matthews DR, Meigs JB, Melander O, Metspalu A, Meyer J, Mirza G, Mihailov E, Moebus S, Mohan V, Mohlke KL, Morris AD, Mühleisen TW, Müller-Nurasyid M, Musk B, Nakamura J, Nakashima E, Navarro P, Ng PK, Nica AC, Nilsson PM, Njølstad I, Nöthen MM, Ohnaka K, Ong TH, Owen KR, Palmer CN, Pankow JS, Park KS, Parkin M, Pechlivanis S, Pedersen NL, Peltonen L, Perry JR, Peters A, Pinidiyapathirage JM, Platou CG, Potter S, Price JF, Qi L, Radha V, Rallidis L, Rasheed A, Rathman W, Rauramaa R, Raychaudhuri S, Rayner NW, Rees SD, Rehnberg E, Ripatti S, Robertson N, Roden M, Rossin EJ, Rudan I, Rybin D, Saaristo TE, Salomaa V, Saltevo J, Samuel M, Sanghera DK, Saramies J, Scott J, Scott LJ, Scott RA, Segrè AV, Sehmi J, Sennblad B, Shah N, Shah S, Shera AS, Shu XO, Shuldiner AR, Sigurđsson G, Sijbrands E, Silveira A, Sim X, Sivapalaratnam S, Small KS, So WY, Stančáková A, Stefansson K, Steinbach G, Steinthorsdottir V, Stirrups K, Strawbridge RJ, Stringham HM, Sun Q, Suo C, Syvänen AC, Takayanagi R, Takeuchi F, Tay WT, Teslovich TM, Thorand B, Thorleifsson G, Thorsteinsdottir U, Tikkanen E, Trakalo J, Tremoli E, Trip MD, Tsai FJ, Tuomi T, Tuomilehto J, Uitterlinden AG, Valladares-Salgado A, Vedantam S, Veglia F, Voight BF, Wang C, Wareham NJ, Wennauer R, Wickremasinghe AR, Wilsgaard T, Wilson JF, Wiltshire S, Winckler W, Wong TY, Wood AR, Wu JY, Wu Y, Yamamoto K, Yamauchi T, Yang M, Yengo L, Yokota M, Young R, Zabaneh D, Zhang F, Zhang R, Zheng W, Zimmet PZ, Altshuler D, Bowden DW, Cho YS, Cox NJ, Cruz M, Hanis CL, Kooner J, Lee JY, Seielstad M, Teo YY, Boehnke M, Parra EJ, Chambers JC, Tai ES, McCarthy MI, Morris AP (2014) Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nature Genetics 46:234-244.
    

19. Dixson L, Walter H, Schneider M, Erk S, Schäfer A, Haddad L, Grimm O, Mattheisen M, Nöthen MM, Cichon S, Witt SH, Rietschel M, Mohnke S, Seiferth N, Heinz A, Tost H, Meyer-Lindenberg A (2014) Identification of gene ontologies linked to prefrontal-hippocampal functional coupling in the human brain. Proceedings of the National Academy of Sciences of the United States of America 111:9657-9662.
    

20. Retraction for Dixson et al. (2014) Identification of gene ontologies linked to prefrontal-hippocampal functional coupling in the human brain. Proc Natl Acad Sci U S A 111:13582.
    

21. Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C (2014) Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. Journal of Neurology 261:207-212.
    

22. Draaken M, Baudisch F, Timmermann B, Kuhl H, Kerick M, Proske J, Wittler L, Pennimpede T, Ebert A-K, Rösch W, Stein R, Bartels E, von Lowtzow C, Boemers TM, Herms S, Gearhart JP, Lakshmanan Y, Kockum CC, Holmdahl G, Läckgren G, Nordenskjöld A, Boyadjiev SA, Herrmann BG, Nöthen MM, Ludwig M, Reutter HR (2014) Classic bladder exstrophy: frequent 22q11.21 duplications and definition of a 414 kb phenocritical region. Birth Defects Research Part A: Clinical and Molecular Teratology 100:512-517.
    

23. Drichel D, Herold C, Lacour A, Ramirez A, Jessen F, Maier W, Noethen MM, Leber M, Vaitsiakhovich T, Becker T (2014) Rare Variant Testing of Imputed Data: An Analysis Pipeline Typified. Human Heredity 78:164-178.
    

24. Erk S, Meyer-Lindenberg A, Linden DE, Lancaster T, Mohnke S, Grimm O, Degenhardt F, Holmans P, Pocklington A, Schmierer P, Haddad L, Mühleisen TW, Mattheisen M, Witt SH, Romanczuk-Seiferth N, Tost H, Schott BH, Cichon S, Nöthen MM, Rietschel M, Heinz A, Walter H (2014) Replication of brain function effects of a genome-wide supported psychiatric risk variant in the CACNA1C gene and new multi-locus effects. Neuroimage 94:147-154.
    

25. Erk S, Meyer-Lindenberg A, Schmierer P, Mohnke S, Grimm O, Garbusow M, Haddad L, Poehland L, Mühleisen TW, Witt SH, Tost H, Kirsch P, Romanczuk-Seiferth N, Schott BH, Cichon S, Nöthen MM, Rietschel M, Heinz A, Walter H (2014) Hippocampal and frontolimbic function as intermediate phenotype for psychosis: evidence from healthy relatives and a common risk variant in CACNA1C. Biological Psychiatry 76:466-475.
    

26. Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; United Kingdom Brain Expression Consortium, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J (2014) Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One 9:e94661.
    

27. Figlioli, G, Kohler, A, Chen, B, Elisei, R, Romei, C, Cipollini, M, Cristaudo, A, Bambi, F, Paolicchi, E, Hoffmann, P, Herms, S, Kalemba, M, Kula, D, Pastor, S, Marcos, R, Velazquez, A, Jarzab, B, Landi, S, Hemminki, K, Forsti, A, and Gemignani, F (2014) Novel genome-wide association study-based candidate loci for differentiated thyroid cancer risk. Journal of Clinical Endocrinology and Metabolism 99:E2084-E2092.
    

28. Forstner AJ*, Basmanav FB*, Mattheisen M, Böhmer AC, Hollegaard MV, Janson E, Strengman E, Priebe L, Degenhardt F, Hoffmann P, Herms S, Maier W, Mössner R, Rujescu D, Ophoff RA, Moebus S, Mortensen PB, Børglum AD, Hougaard DM, Frank J, Witt SH, Rietschel M, Zimmer A, Nöthen MM*, Miró X*, Cichon S* (2014) Investigation of the involvement of MIR185 and its target genes in the development of schizophrenia. Journal of Psychiatry and Neuroscience 39:386-396. *These authors contributed equally to this work.
    

29. Frey UH, Moebus S, Möhlenkamp S, Kälsch H, Bauer M, Lehmann N, Nöthen M, Mühleisen TW, Stang A, Erbel R, Jöckel KH, Peters J, Siffert W (2014) GNB3 gene 825 TT variant predicts hard coronary events in the population-based Heinz Nixdorf Recall study. Atherosclerosis 237:437-442.
    

30. Fritz CJ, Reutter HM, Herberg U (2014) Scimitar syndrome in a case with VACTERL association. Cardiology in the Young 6:1-4.
    

31. Garg P*, Ludwig KU*, Böhmer AC, Rubini M, Steegers-Theunissen R, Mossey PA, Mangold E, Sharp AJ (2014) Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts. European Journal of Human Genetics 22:822-830. *These authors contributed equally to this work.
    

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36. Hammer C, Degenhardt F, Priebe L, Stutz AM, Heilmann S, Waszak SM, Schlattl A, Mangold E, Hoffmann P, Nöthen MM, Rietschel M, Rappold G, Korbel J, Cichon S, Niesler B (2014) A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders. Bipolar Disorders 16: 764-768.
    

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39. Hwang DY, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F (2014) Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney International (2014) 85:1429-1433.
    

40. Jamain S, Cichon S, Etain B, Mühleisen TW, Georgi A, Zidane N, Chevallier L, Deshommes J, Nicolas A, Henrion A, Degenhardt F, Mattheisen M, Priebe L, Mathieu F, Kahn JP, Henry C, Boland A, Zelenika D, Gut I, Heath S, Lathrop M, Maier W, Albus M, Rietschel M, Schulze TG, McMahon FJ, Kelsoe JR, Hamshere M, Craddock N, Nöthen MM, Bellivier F, Leboyer M (2014) Common and rare variant analysis in early-onset bipolar disorder vulnerability. PLoS One 9:e104326. doi: 10.1371.
    

41. Jarick I, Volckmar AL, Pütter C, Pechlivanis S, Nguyen TT, Dauvermann MR, Beck S, Albayrak O, Scherag S, Gilsbach S, Cichon S, Hoffmann P, Degenhardt F, Nöthen MM, Schreiber S, Wichmann HE, Jöckel KH, Heinrich J, Tiesler CM, Faraone SV, Walitza S, Sinzig J, Freitag C, Meyer J, Herpertz-Dahlmann B, Lehmkuhl G, Renner TJ, Warnke A, Rojavascript:setTextFormatInput('strong','form0','text_ger','ger');manos M, Lesch KP, Reif A, Schimmelmann BG, Hebebrand J, Scherag A, Hinney A (2014) Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder. Molecular Psychiatry 19:115-121.
    

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43. Juraeva D*, Haenisch B*, Zapatka M, Frank J; GROUP Investigators; PSYCH-GEMS SCZ Working Group, Witt SH, Mühleisen TW, Treutlein J, Strohmaier J, Meier S, Degenhardt F, Giegling I, Ripke S, Leber M, Lange C, Schulze TG, Mössner R, Nenadic I, Sauer H, Rujescu D, Maier W, Børglum A, Ophoff R, Cichon S, Nöthen MM, Rietschel M, Mattheisen M, Brors B (2014) Integrated pathway-based approach identifies association between genomic regions at CTCF and CACNB2 and schizophrenia. PLoS Genetics 10:e1004345. *These authors contributed equally to this work.
    

44. Karpyak VM, Biernacka JM, Geske JR, Jenkins GD, Cunningham JM, Rüegg J, Kononenko O, Leontovich AA, Abulseoud OA, Hall-Flavin DK, Loukianova LL, Schneekloth TD, Skime MK, Frank J, Nöthen MM, Rietschel M, Kiefer F, Mann KF, Weinshilboum RM, Frye MA, Choi DS (2014) Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate. Translational Psychiatry 4:e462. doi: 10.1038/tp.2014.103.
    

45. Kim S, Becker J, Bechheim M, Kaiser V, Noursadeghi M, Fricker N, Beier E, Klaschik S, Boor P, Hess T, Hofmann A, Holdenrieder S, Wendland JR, Fröhlich H, Hartmann G, Nöthen MM, Müller-Myhsok B, Pütz B, Hornung V, Schumacher J (2014) Characterizing the genetic basis of innate immune response in TLR4-activated human monocytes. Nature Communications 5:5236. doi: 10.1038/ncomms6236.
    

46. Kleinberger G, Yamanishi Y, Suárez-Calvet M, Czirr E, Lohmann E, Cuyvers E, Struyfs H, Pettkus N, Wenninger-Weinzierl A, Mazaheri F, Tahirovic S, Lleó A, Alcolea D, Fortea J, Willem M, Lammich S, Molinuevo JL, Sánchez-Valle R, Antonell A, Ramirez A, Heneka MT, Sleegers K, van der Zee J, Martin JJ, Engelborghs S, Demirtas-Tatlidede A, Zetterberg H, Van Broeckhoven C, Gurvit H, Wyss-Coray T, Hardy J, Colonna M, Haass C (2014) TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis. Science Translational Medicine 243:243ra86.
    

47. Kohl S, Hwang D-Y, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F (2014) Mild recessive mutations in six fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. Journal of the American Society of Nephrology 25:1917-1922.
    

48. Kolb-Mäurer A, Betz RC, Hamm H (2014) Odd-looking hair and progressive alopecia in mother and son. JAMA Dermatology 150: 567-568.
    

49. Krug A, Witt SH, Backes H, Dietsche B, Nieratschker V, Shah NJ, Nöthen MM, Rietschel M, Kircher T (2014) A genome-wide supported variant in CACNA1C influences hippocampal activation during episodic memory encoding and retrieval. European Archives of Psychiatry and Clinical Neuroscience 264:103-110.
    

50. Lavebratt C, Olsson S, Backlund L, Frisén L, Sellgren C, Priebe L, Nikamo P, Träskman-Bendz L, Cichon S, Vawter MP, Osby U, Engberg G, Landén M, Erhardt S, Schalling M (2014) The KMO allele encoding Arg452 is associated with psychotic features in bipolar disorder type 1, and with increased CSF KYNA level and reduced KMO expression. Molecular Psychiatry 19:334-341.
    

51. Levey DF, Le-Niculescu H, Frank J, Ayalew M, Jain N, Kirlin B, Learman R, Winiger E, Rodd Z, Shekhar A, Schork N, Kiefe F, Wodarz N, Müller-Myhsok B, Dahmen N; GESGA Consortium, Nöthen M, Sherva R, Farrer L, Smith AH, Kranzler HR, Rietschel M, Gelernter J, Niculescu AB (2014) Genetic risk prediction and neurobiological understanding of alcoholism. Translational Psychiatry 4:e391.
    

52. Li M, Luo XJ, Rietschel M, Lewis CM, Mattheisen M, Müller-Myhsok B, Jamain S, Leboyer M, Landén M, Thompson PM, Cichon S, Nöthen MM, Schulze TG, Sullivan PF, Bergen SE, Donohoe G, Morris DW, Hargreaves A, Gill M, Corvin A, Hultman C, Toga AW, Shi L, Lin Q, Shi H, Gan L, Meyer-Lindenberg A, Czamara D, Henry C, Etain B, Bis JC, Ikram MA, Fornage M, Debette S, Launer LJ, Seshadri S, Erk S, Walter H, Heinz A, Bellivier F, Stein JL, Medland SE, Arias Vasquez A, Hibar DP, Franke B, Martin NG, Wright MJ; MooDS Bipolar Consortium, Strohmaier J, Breuer R, Meier S, Mühleisen TW, Degenhardt FA, Hoffmann P, Herms S, Schwarz M, Vedder H, Kammerer-Ciernioch J, Reif A, Sasse J, Bauer M, Zwick S, Hautzinger M, Wright A, Mitchell PB, Fullerton JM, Schofield PR, Montgomery GW, Martin NG, Czerski PM, Hauser J, Schumacher J, Maier W, Propping P; The Swedish Bipolar Study Group, Backlund L, Frisén L, Lavebratt C, Schalling M, Osby U; The Alzheimer’s Disease Neuroimaging Initiative; ENIGMA Consortium; CHARGE Consortium, Su B (2014) Allelic differences between Europeans and Chinese for CREB1 SNPs and their implications in gene expression regulation, hippocampal structure and function, and bipolar disorder susceptibility. Molecular Psychiatry 19:452-461. Erratum: 527.
    

53. Ludwig KU, Böhmer AC, Rubini M, Mossey PA, Herms S, Nowak S, Reutter H, Alblas MA, Lippke B, Barth S, Paredes-Zenteno M, Muñoz-Jimenez SG, Ortiz-Lopez R, Kreusch T, Hemprich A, Martini M, Braumann B, Jäger A, Pötzsch B, Molloy A, Peterlin B, Hoffmann P, Nöthen MM, Rojas-Martinez A, Knapp M, Steegers-Theunissen RP, Mangold E (2014) Strong association of variants around FOXE1 and orofacial clefting. Journal of Dental Research 93:376-381.
    

54. Ludwig KU, Wahle P, Reutter H, Paredes-Zenteno M, Muñoz-Jimenez SG, Ortiz-Lopez R, Böhmer AC, Tessmann P, Nowak S, Nöthen MM, Knapp M, Rojas-Martinez A, Mangold E (2014) Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population. Birth Defects Research A Clinical and Molecular Teratology 100:43-47.
    

55. Luo XJ, Li M, Huang L, Steinberg S, Mattheisen M, Liang G, Donohoe G, Shi Y, Chen C, Yue W, Alkelai A, Lerer B, Li Z, Yi Q, Rietschel M, Cichon S, Collier DA, Tosato S, Suvisaari J, Rujescu D, Golimbet V, Silagadze T, Durmishi N, Milovancevic MP, Stefansson H, Schulze TG, Nöthen MM, Chen C, Lyne R, Morris DW, Gill M, Corvin A, Zhang D, Dong Q, Moyzis RK, Stefansson K, Sigurdsson E, Hu F; MooDS SCZ Consortium, Su B, Gan L (2014) Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene. Molecular Psychiatry 19:774-783.
    

56. Mallmann MR, Reutter H, Geipel A, Berg C, Gembruch U (2014) Early prenatal diagnosis of the OEIS complex with different appearance in early compared to late pregnancy before spontaneous rupture of the cloacal membrane. Prenatal Diagnosis 34:803-805.
    

57. Mallmann MR, Reutter H, Müller A, Boemers TM, Geipel A, Berg C, Gembruch U. Prenatal diagnosis of covered cloacal exstrophy. Fetal Diagnosis Therapy 36:333-336.
    

58. Mohnke S, Erk S, Schnell K, Schütz C, Romanczuk-Seiferth N, Grimm O, Haddad L, Pöhland L, Garbusow M, Schmitgen MM, Kirsch P, Esslinger C, Rietschel M, Witt SH, Nöthen MM, Cichon S, Mattheisen M, Mühleisen T, Jensen J, Schott BH, Maier W,Heinz A, Meyer-Lindenberg A, Walter H (2014) Further evidence for the impact of a genome-wide-supported psychosis risk variant in ZNF804A on the Theory of Mind Network. Neuropsychopharmacology 39:1196-1205.
    

59. Mühleisen TW*, Leber M*, Schulze TG*, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Forstner AJ, Schumacher J, Breuer R, Meier S, Herms S, Hoffmann P, Lacour A, Witt SH, Reif A, Müller-Myhsok B, Lucae S, Maier W, Schwarz M, Vedder H, Kammerer-Ciernioch J, Pfennig A, Bauer M, Hautzinger M, Moebus S, Priebe L, Czerski PM, Hauser J, Lissowska J, Szeszenia-Dabrowska N, Brennan P, McKay JD, Wright A, Mitchell PB, Fullerton JM, Schofield PR, Montgomery GW, Medland SE, Gordon SD, Martin NG, Krasnow V, Chuchalin A, Babadjanova G, Pantelejeva G, Abramova LI, Tiganov AS, Polonikov A, Khusnutdinova E, Alda M, Grof P, Rouleau GA, Turecki G, Laprise C, Rivas F, Mayoral F, Kogevinas M, Grigoroiu-Serbanescu M, Propping P, Becker T, Rietschel M*, Nöthen MM*, Cichon S* (2014) Genome-wide association study reveals two new risk loci for bipolar disorder. Nature Communications 5:3339. doi: 10.1038/ncomms4339.
    

60. Müller M, Colcuc S, Drescher DG, Eckardt AJ, von Pein H, Taube C, Schumacher J, Gockel HR, Schimanski CC, Lang H, Gockel I (2014) Murine genetic deficiency of neuronal nitric oxide synthase (nNOS(-/-) ) and interstitial cells of Cajal (W/W(v) ): Implications for achalasia? Journal of Gastroenterology and Hepatology 29:1800-1807.
    

61. Nanda A*, Pasternack SM*, Mahmoudi H, Ishorst N, Grimalt R, Betz RC (2014) Alopecia and hypotrichosis as characteristic findings in woodhouse-sakati syndrome: report of a family with mutation in the c2orf37 gene. Pediatric Dermatology 31:83-87. *These authors contributed equally to this work.
    

62. Nickl-Jockschat T, Stöcker T, Krug A, Markov V, Huang R, Schneider F, Habel U, Eickhoff SB, Zerres K, Nöthen MM, Treutlein J, Rietschel M, Shah NJ, Kircher T (2014) A Neuregulin-1 schizophrenia susceptibility variant causes perihippocampal fiber tract anomalies in healthy young subjects. Brain Behavior 4:215-226.
    

63. Nicodemus KK, Hargreaves A, Morris D, Anney R, Gill M, Corvin A, Donohoe G; Schizophrenia Psychiatric Genome-wide Association Study (GWAS) Consortium; Wellcome Trust Case Control Consortium 2 [Cichon S, Mattheisen M, Nöthen MM] (2014) Variability in working memory performance explained by epistasis vs polygenic scores in the ZNF804A pathway. JAMA Psychiatry 71:778-785.
    

64. Nieratschker V, Grosshans M, Frank J, Strohmaier J, von der Goltz C, El-Maarri O, Witt SH, Cichon S, Nöthen MM, Kiefer F, Rietschel M (2014) Epigenetic alteration of the dopamine transporter gene in alcohol-dependent patients is associated with age. Addiction Biology 19:305-311.
    

65. Nieratschker V, Massart R, Gilles M, Luoni A, Suderman MJ, Krumm B, Meier S, Witt SH, Nöthen MM, Suomi SJ, Peus V, Scharnholz B, Dukal H, Hohmeyer C, Wolf IA, Cirulli F, Gass P, Sütterlin MW, Filsinger B, Laucht M, Riva MA, Rietschel M, Deuschle M, Szyf M (2014) MORC1 exhibits cross-species differential methylation in association with early life stress as well as genome-wide association with MDD. Translational Psychiatry 4:e429. doi: 10.1038/tp.2014.75.
    

66. Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF (2014) Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. Familial Cancer 13:57-63.
    

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68. Nurnberger JI Jr, Koller DL, Jung J, Edenberg HJ, Foroud T, Guella I, Vawter MP, Kelsoe JR; Psychiatric Genomics Consortium Bipolar Group [Cichon S, Mühleisen TW, Degenhardt FA, Schumacher J, Propping P, Nöthen MM] (2014) Identification of pathways for bipolar disorder: a meta-analysis. JAMA Psychiatry 71:657-664.
    

69. Nuwaihyd R, Redler S, Heilmann S, Drichel D, Wolf S, Birch P, Dobson K, Lutz G, Giehl KA, Kruse R, Tazi-Ahnini R, Hanneken S, Böhm M, Miesel A, Fischer T, Wolff H, Becker T, Garcia-Bartels N, Blume-Peytavi U, Nöthen MM, Messenger AG, Betz RC (2014) Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair loss. Archives of Dermatological Research 306:413-418.
    

70. Paschou P, Yu D, Gerber G, Evans P, Tsetsos F, Davis LK, Karagiannidis I, Chaponis J, Gamazon E, Mueller-Vahl K, Stuhrmann M, Schloegelhofer M, Stamenkovic M, Hebebrand J, Noethen M, Nagy P, Barta C, Tarnok Z, Rizzo R, Depienne C, Worbe Y, Hartmann A, Cath DC, Budman CL, Sandor P, Barr C, Wolanczyk T, Singer H, Chou IC, Grados M, Posthuma D, Rouleau GA, Aschauer H, Freimer NB, Pauls DL, Cox NJ, Mathews CA, Scharf JM (2014) Genetic association signal near NTN4 in Tourette syndrome. Annals of Neurology 76:310-315.
    

71. Paulus FM, Bedenbender J, Krach S, Pyka M, Krug A, Sommer J, Mette M, Nöthen MM, Witt SH, Rietschel M, Kircher T, Jansen A (2014) Association of rs1006737 in CACNA1C with alterations in prefrontal activation and fronto-hippocampal connectivity. Human Brain Mapping 35):1190-1200.
    

72. Propping P (2014) Humangenetik und Ärzteschaft. In: Zerres K., Scholz C: 1987 – 2014 GFH. Selbstverlag medizinischegenetik, Deutsche Gesellschaft für Humangenetik e.V., München, S. 65-67.
    

73. Quast C, Reif A, Brückl T, Pfister H, Weber H, Mattheisen M, Cichon S, Lang T, Hamm A, Fehm L, Ströhle A, Arolt V, Domschke K, Kircher T, Wittchen HU, Pauli P, Gerlach AL, Alpers GW, Deckert J, Rupprecht R, Binder EB, Erhardt A (2014) Gender-specific association of variants in the akr1c1 gene with dimensional anxiety in patients with panic disorder: additional evidence for the importance of neurosteroids in anxiety? Depression and Anxiety 31:843-850.
    

74. Ramaekers P, Loeys B, von Lowtzow C, Reutter H, Jacquemyn Y, Leroy Y, Colpaert C, Parizel M (2014) Bladder Exstrophy-Epispadias-Complex and triple-X syndrome: incidental finding or causality? Birth Defects Research Part A: Clinical and Molecular Teratology 100:797-800.
    

75. Ramirez A, van der Flier WM, Herold C, Ramonet D, Heilmann S, Lewczuk P, Popp J, Lacour A, Drichel D, Louwersheimer E, Kummer MP, Cruchaga C, Hoffmann P, Teunissen C, Holstege H, Kornhuber J, Peters O, Naj AC, Chouraki V, Bellenguez C, Gerrish A; International Genomics of Alzheimer's Project (IGAP); Alzheimer's Disease Neuroimaging Initiative (ADNI), Heun R, Frölich L, Hüll M, Buscemi L, Herms S, Kölsch H, Scheltens P, Breteler MM, Rüther E, Wiltfang J, Goate A, Jessen F, Maier W, Heneka MT, Becker T, Nöthen MM (2014) SUCLG2 identified as both a determinator of CSF Abeta1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. Human Molecular Genetics 23:6644-6658.
    

76. Redler S, Birch P, Drichel D, Hofmann P, Dobson K, Böhmer AC, Becker J, Giehl KA, Tazi-Ahnini R, Kruse R, Wolff H, Miesel A, Fischer T, Böhm M, Nuwayhid R, Garcia Bartels N, Lutz G, Becker T, Blume-Peytavi U, Nöthen MM, Messenger AG, Betz RC (2014) The oestrogen receptor 2 (ESR2) gene in female pattern hair loss: replication of association with rs10137185 in German patients. British Journal of Dermatology 170:982-985.
    

77. Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA (2014) 16p11.2 600 kb Duplications Confer Risk for Typical and Atypical Rolandic Epilepsy. Human Molecular Genetics 23:6069-6080.
    

78. Reutter H*, Draaken M*, Pennimpede T, Wittler L, Brockschmidt FF, Ebert A-K, Bartels E, Rösch W, Boemers TM, Hirsch K, Schmiedeke E, Meesters C, Becker T, Stein R, Utsch B, Mangold E, Nordenskjöld A, Barker G, Clementsson Kockum C, Zwink N, Holmdahl G, Läckgren G, Jenetzky E, Feitz WFJ, Marcelis C, Wijers CHW, van Rooij IALM, Gearhart JP, Herrmann BG, Ludwig M, Boyadjiev SA, Nöthen MM, Mattheisen M (2014) Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder. Human Molecular Genetics 23:5536-5544. *These authors contributed equally to this work.
    

79. Reutter H, Gurung N, Ludwig M (2014) Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene. American Journal of Medical Genetics A 164A:1611-1613.
    

80. Ruderfer DM, Fanous AH, Ripke S, McQuillin A, Amdur RL; Schizophrenia Working Group of Psychiatric Genomics Consortium [Cichon S, Nöthen MM], Bipolar Disorder Working Group of Psychiatric Genomics Consortium [Cichon S, Degenhard F, Mühleisen TW, Nöthen MM, Propping P, Schumacher J]; Cross-Disorder Working Group of Psychiatric Genomics Consortium, Gejman PV, O'Donovan MC, Andreassen OA, Djurovic S, Hultman CM, Kelsoe JR, Jamain S, Landén M, Leboyer M, Nimgaonkar V, Nurnberger J, Smoller JW, Craddock N, Corvin A, Sullivan PF, Holmans P, Sklar P, Kendler KS (2014) Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. Molecular Psychiatry 19:1017-1024.
    

81. Ruiz A*, Heilmann S*, Becker T*, Hernández I, Wagner H, Thelen M, Mauleón A, Rosende-Roca M, Bellenguez C, Bis JC, Harold D, Gerrish A, Sims R, Sotolongo-Grau O, Espinosa A, Alegret M, Arrieta JL, Lacour A, Leber M, Becker J, Lafuente A, Ruiz S, Vargas L, Rodríguez O, Ortega G, Dominguez MA; IGAP, Mayeux R, Haines JL, Pericak-Vance MA, Farrer LA, Schellenberg GD, Chouraki V, Launer LJ, van Duijn C, Seshadri S, Antúnez C, Breteler MM, Serrano-Ríos M, Jessen F, Tárraga L, Nöthen MM, Maier W, Boada M, Ramírez A (2014) Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene. Translational Psychiatry 4:e358. doi.1038/tp.2014.2. *These authors contributed equally to this work.
    

82. Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F (2014) Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney International 85:1310-1317.
    

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149. Erk S, Meyer-Lindenberg A, Linden DE, Lancaster T, Mohnke S, Grimm O, Degenhardt F, Holmans P, Pocklington A, Schmierer P, Haddad L, Mühleisen TW, Mattheisen M, Witt SH, Romanczuk-Seiferth N, Tost H, Schott BH, Cichon S, Nöthen MM, Rietschel M, Heinz A, Walter H (2014) Replication of brain function effects of a genome-wide supported psychiatric risk variant in the CACNA1C gene and new multi-locus effects. Neuroimage 94:147-154.
     

150. Erk S, Meyer-Lindenberg A, Schmierer P, Mohnke S, Grimm O, Garbusow M, Haddad L, Poehland L, Mühleisen TW, Witt SH, Tost H, Kirsch P, Romanczuk-Seiferth N, Schott BH, Cichon S, Nöthen MM, Rietschel M, Heinz A, Walter H (2014) Hippocampal and frontolimbic function as intermediate phenotype for psychosis: evidence from healthy relatives and a common risk variant in CACNA1C. Biological Psychiatry 76:466-475.
     

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153. Forstner AJ*, Basmanav FB*, Mattheisen M, Böhmer AC, Hollegaard MV, Janson E, Strengman E, Priebe L, Degenhardt F, Hoffmann P, Herms S, Maier W, Mössner R, Rujescu D, Ophoff RA, Moebus S, Mortensen PB, Børglum AD, Hougaard DM, Frank J, Witt SH, Rietschel M, Zimmer A, Nöthen MM*, Miró X*, Cichon S* (2014) Investigation of the involvement of MIR185 and its target genes in the development of schizophrenia. Journal of Psychiatry and Neuroscience 39:386-396. *These authors contributed equally to this work.
     

154. Frey UH, Moebus S, Möhlenkamp S, Kälsch H, Bauer M, Lehmann N, Nöthen M, Mühleisen TW, Stang A, Erbel R, Jöckel KH, Peters J, Siffert W (2014) GNB3 gene 825 TT variant predicts hard coronary events in the population-based Heinz Nixdorf Recall study. Atherosclerosis 237:437-442.
     

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156. Garg P*, Ludwig KU*, Böhmer AC, Rubini M, Steegers-Theunissen R, Mossey PA, Mangold E, Sharp AJ (2014) Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts. European Journal of Human Genetics 22:822-830. *These authors contributed equally to this work.
     

157. Gockel I*, Becker J*, Wouters MM, Niebisch S, Gockel HR, Hess T, Ramonet D, Zimmermann J, Vigo AG, Trynka G, de León AR, de la Serna JP, Urcelay E, Kumar V, Franke L, Westra HJ, Drescher D, Kneist W, Marquardt JU, Galle PR, Mattheisen M, Annese V, Latiano A, Fumagalli U, Laghi L, Cuomo R, Sarnelli G, Müller M, Eckardt AJ, Tack J, Hoffmann P, Herms S, Mangold E, Heilmann S, Kiesslich R, von Rahden BH, Allescher HD, Schulz HG, Wijmenga C, Heneka MT, Lang H, Hopfner KP, Nöthen MM, Boeckxstaens GE, de Bakker PI, Knapp M*, Schumacher J* (2014) Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives. Journal of Nature Genetics 46:901-904. *These authors contributed equally to this work.
     

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162. Hammer C, Degenhardt F, Priebe L, Stutz AM, Heilmann S, Waszak SM, Schlattl A, Mangold E, Hoffmann P, Nöthen MM, Rietschel M, Rappold G, Korbel J, Cichon S, Niesler B (2014) A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders. Bipolar Disorders 16: 764-768.
     

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164. Hooli BV, Parrado AR, Mullin K, Yip WK, Liu T, Roehr JT, Qiao D, Jessen F, Peters O, Becker T, Ramirez A, Lange C, Bertram L, Tanzi RE (2014) The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk. Neurology 83:1353-1358.
     

165. Hwang DY, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F (2014) Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney International (2014) 85:1429-1433.
     

166. Jamain S, Cichon S, Etain B, Mühleisen TW, Georgi A, Zidane N, Chevallier L, Deshommes J, Nicolas A, Henrion A, Degenhardt F, Mattheisen M, Priebe L, Mathieu F, Kahn JP, Henry C, Boland A, Zelenika D, Gut I, Heath S, Lathrop M, Maier W, Albus M, Rietschel M, Schulze TG, McMahon FJ, Kelsoe JR, Hamshere M, Craddock N, Nöthen MM, Bellivier F, Leboyer M (2014) Common and rare variant analysis in early-onset bipolar disorder vulnerability. PLoS One 9:e104326. doi: 10.1371.
     

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169. Juraeva D*, Haenisch B*, Zapatka M, Frank J; GROUP Investigators; PSYCH-GEMS SCZ Working Group, Witt SH, Mühleisen TW, Treutlein J, Strohmaier J, Meier S, Degenhardt F, Giegling I, Ripke S, Leber M, Lange C, Schulze TG, Mössner R, Nenadic I, Sauer H, Rujescu D, Maier W, Børglum A, Ophoff R, Cichon S, Nöthen MM, Rietschel M, Mattheisen M, Brors B (2014) Integrated pathway-based approach identifies association between genomic regions at CTCF and CACNB2 and schizophrenia. PLoS Genetics 10:e1004345. *These authors contributed equally to this work.
     

170. Karpyak VM, Biernacka JM, Geske JR, Jenkins GD, Cunningham JM, Rüegg J, Kononenko O, Leontovich AA, Abulseoud OA, Hall-Flavin DK, Loukianova LL, Schneekloth TD, Skime MK, Frank J, Nöthen MM, Rietschel M, Kiefer F, Mann KF, Weinshilboum RM, Frye MA, Choi DS (2014) Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate. Translational Psychiatry 4:e462. doi: 10.1038/tp.2014.103.
     

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173. Kohl S, Hwang D-Y, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F (2014) Mild recessive mutations in six fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. Journal of the American Society of Nephrology 25:1917-1922.
     

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175. Krug A, Witt SH, Backes H, Dietsche B, Nieratschker V, Shah NJ, Nöthen MM, Rietschel M, Kircher T (2014) A genome-wide supported variant in CACNA1C influences hippocampal activation during episodic memory encoding and retrieval. European Archives of Psychiatry and Clinical Neuroscience 264:103-110.
     

176. Lavebratt C, Olsson S, Backlund L, Frisén L, Sellgren C, Priebe L, Nikamo P, Träskman-Bendz L, Cichon S, Vawter MP, Osby U, Engberg G, Landén M, Erhardt S, Schalling M (2014) The KMO allele encoding Arg452 is associated with psychotic features in bipolar disorder type 1, and with increased CSF KYNA level and reduced KMO expression. Molecular Psychiatry 19:334-341.
     

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180. Ludwig KU, Wahle P, Reutter H, Paredes-Zenteno M, Muñoz-Jimenez SG, Ortiz-Lopez R, Böhmer AC, Tessmann P, Nowak S, Nöthen MM, Knapp M, Rojas-Martinez A, Mangold E (2014) Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population. Birth Defects Research A Clinical and Molecular Teratology 100:43-47.
     

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Übersichtsarbeiten / Bücher / Kommentare

 

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2. Aretz S, Propping P (2014). Prävention somatischer Krankheiten durch die Humangenetik. In Hurrelmann, K.; Klotz, Th.; Haisch, J. (Hrsg): Lehrbuch Prävention und Gesundheitsförderung; 4., vollständig überarbeitete Auflage, Verlag Hans Huber, S. 214-231.
   

3. Betz RC (2014) Alopezien und Hypotrichosen im Kindesalter. Klinik und Diagnostik. Hautarzt 65:520-526.
   

4. Günschmann C, Chiticariu E, Garg B, Hiz MM, Mostmans Y, Wehner M, Scharfenberger L (2014) Transgenic mouse technology in skin biology: inducible gene knockout in mice. Journal of Investigative Dermatology 134:e22. doi: 10.1038/jid.2014.213.
   

5. Molderings GJ, Homann J, Brettner S, Raithel M, Frieling T (2014) Systemische Mastzellaktivierungserkrankung: Ein praxisorientierter Leitfaden zu Diagnostik und Therapie [Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options]. Deutsche Medizinische Wochenschrift 139(30):1523-1534.
   

6. Propping P (2014) Wenn die Aufklärung des persönlichen Genoms Wirklichkeit wird: Eine Einführung für die nächste Generation. In: Schartl M und Erber-Schropp JM (Hrsg.) Chancen und Risiken der modernen Biotechnologie. Springer Spektrum, pp. 11-51.
   

7. Propping P, Schott H (2014) Embryo screening: Update German view of genetic testing. Nature 510:473.
   

8. Schwanitz G (2014) Die Untersuchung menschlicher Chromosomen. Von den Anfängen bis zur molekulargenetischen Zytogenetik. In: Zerres K., Scholz C: 1987 – 2014 GFH. Selbstverlag medizinischeGenetik, München, S. 26-31.