Publikationen 2013

Wissenschaftliche Originalarbeiten

1. Ahmad S, Mahmoudi H, Naeem M, Betz RC (2013) Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor gene. British Journal of Dermatology 169:476-478.
2. Albayrak O, Pütter C, Volckmar ALjavascript:setTextFormatInput(’strong‘,’insert_form‘,’text_ger‘,’ger‘);, Cichon S, Hoffmann P, Nöthen MM, Jöckel KH, Schreiber S, Wichmann HE, Faraone SV, Neale BM, Herpertz-Dahlmann B, Lehmkuhl G, Sinzig J, Renner TJ, Romanos M, Warnke A, Lesch KP, Reif A, Schimmelmann BG, Scherag A, Hebebrand J, Hinney A; Psychiatric GWAS Consortium: ADHD Subgroup (2013) Common obesity risk alleles in childhood attention-deficit/hyperactivity disorder. American Journal of Medical Genetics B Neuropsychiatric Genetics 162:295-305.

3. Andreassen OA, Djurovic S, Thompson WK, Schork AJ, Kendler KS, O’Donovan MC, Rujescu D, Werge T, van de Bunt M, Morris AP, McCarthy MI; International Consortium for Blood Pressure GWAS; Diabetes Genetics Replication and Meta-analysis Consortium; Psychiatric Genomics Consortium Schizophrenia Working Group [Cichon S, Nöthen MM], Roddey JC, McEvoy LK, Desikan RS, Dale AM (2013) Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors. American Journal of Human Genetics 92:197-209.

4. Andreassen OA, Thompson WK, Schork AJ, Ripke S, Mattingsdal M, Kelsoe JR, Kendler KS, O’Donovan MC, Rujescu D, Werge T, Sklar P; Psychiatric Genomics Consortium (PGC); Bipolar Disorder and Schizophrenia Working Groups [Cichon S, Degenhardt F, Mühleisen TW, Nöthen MM, Propping P, Schumacher J], Roddey JC, Chen CH, McEvoy L, Desikan RS, Djurovic S, Dale AM (2013) Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate. PLoS Genetics 9:e1003455.

5. Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimäki T, Stam AH, Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E, Schürks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Färkkilä M, Artto V, Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller CM, Zielman R, Heath AC, Madden PA, Montgomery GW, Martin NG, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams FM, Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A, Amin N, Hottenga JJ, Vink JM, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A, Eriksson JG, Traynor BJ, Trabzuni D, Rossin E, Lage K, Jacobs SB, Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C, Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman DI, Palotie A; North American Brain Expression Consortium; UK Brain Expression Consortium; International Headache Genetics Consortium (2013) Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nature Genetics 45:912-917.

6. Aretz S, Genuardi M, Hes FJ (2013) Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) – update 2012. European Journal of Human Genetics 21(1). doi: 10.1038/ejhg.2012.163.

7. Baudisch F*, Draaken M*, Bartels E, Schmiedeke E, Bagci S, Bartmann P, Nöthen MM, Ludwig M, Reutter H (2013) CNV Analysis in Monozygotic Twin Pairs Discordant for Urorectal Malformations. Twin Research and Human Genetics 16:802-807. *These authors contributed equally to this work.

8. Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N, Ruczinski I (2013) Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study. Human Genetics 132:771-781.

9. Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, Esko T, Fall T, Ferreira T, Gentilini D, Jackson AU, Luan J, Randall JC, Vedantam S, Willer CJ, Winkler TW, Wood AR, Workalemahu T, Hu YJ, Lee SH, Liang L, Lin DY, Min JL, Neale BM, Thorleifsson G, Yang J, Albrecht E, Amin N, Bragg-Gresham JL, Cadby G, den Heijer M, Eklund N, Fischer K, Goel A, Hottenga JJ, Huffman JE, Jarick I, Johansson Å, Johnson T, Kanoni S, Kleber ME, König IR, Kristiansson K, Kutalik Z, Lamina C, Lecoeur C, Li G, Mangino M, McArdle WL, Medina-Gomez C, Müller-Nurasyid M, Ngwa JS, Nolte IM, Paternoster L, Pechlivanis S, Perola M, Peters MJ, Preuss M, Rose LM, Shi J, Shungin D, Smith AV, Strawbridge RJ, Surakka I, Teumer A, Trip MD, Tyrer J, Van Vliet-Ostaptchouk JV, Vandenput L, Waite LL, Zhao JH, Absher D, Asselbergs FW, Atalay M, Attwood AP, Balmforth AJ, Basart H, Beilby J, Bonnycastle LL, Brambilla P, Bruinenberg M, Campbell H, Chasman DI, Chines PS, Collins FS, Connell JM, Cookson WO, de Faire U, de Vegt F, Dei M, Dimitriou M, Edkins S, Estrada K, Evans DM, Farrall M, Ferrario MM, Ferrières J, Franke L, Frau F, Gejman PV, Grallert H, Grönberg H, Gudnason V, Hall AS, Hall P, Hartikainen AL, Hayward C, Heard-Costa NL, Heath AC, Hebebrand J, Homuth G, Hu FB, Hunt SE, Hyppönen E, Iribarren C, Jacobs KB, Jansson JO, Jula A, Kähönen M, Kathiresan S, Kee F, Khaw KT, Kivimäki M, Koenig W, Kraja AT, Kumari M, Kuulasmaa K, Kuusisto J, Laitinen JH, Lakka TA, Langenberg C, Launer LJ, Lind L, Lindström J, Liu J, Liuzzi A, Lokki ML, Lorentzon M, Madden PA, Magnusson PK, Manunta P, Marek D, März W, Mateo Leach I, McKnight B, Medland SE, Mihailov E, Milani L, Montgomery GW, Mooser V, Mühleisen TW, Munroe PB, Musk AW, Narisu N, Navis G, Nicholson G, Nohr EA, Ong KK, Oostra BA, Palmer CN, Palotie A, Peden JF, Pedersen N, Peters A, Polasek O, Pouta A, Pramstaller PP, Prokopenko I, Pütter C, Radhakrishnan A, Raitakari O, Rendon A, Rivadeneira F, Rudan I, Saaristo TE, Sambrook JG, Sanders AR, Sanna S, Saramies J, Schipf S, Schreiber S, Schunkert H, Shin SY, Signorini S, Sinisalo J, Skrobek B, Soranzo N, Stančáková A, Stark K, Stephens JC, Stirrups K, Stolk RP, Stumvoll M, Swift AJ, Theodoraki EV, Thorand B, Tregouet DA, Tremoli E, Van der Klauw MM, van Meurs JB, Vermeulen SH, Viikari J, Virtamo J, Vitart V, Waeber G, Wang Z, Widén E, Wild SH, Willemsen G, Winkelmann BR, Witteman JC, Wolffenbuttel BH, Wong A, Wright AF, Zillikens MC, Amouyel P, Boehm BO, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ, Cupples LA, Cusi D, Dedoussis GV, Erdmann J, Eriksson JG, Franks PW, Froguel P, Gieger C, Gyllensten U, Hamsten A, Harris TB, Hengstenberg C, Hicks AA, Hingorani A, Hinney A, Hofman A, Hovingh KG, Hveem K, Illig T, Jarvelin MR, Jöckel KH, Keinanen-Kiukaanniemi SM, Kiemeney LA, Kuh D, Laakso M, Lehtimäki T, Levinson DF, Martin NG, Metspalu A, Morris AD, Nieminen MS, Njølstad I, Ohlsson C, Oldehinkel AJ, Ouwehand WH, Palmer LJ, Penninx B, Power C, Province MA, Psaty BM, Qi L, Rauramaa R, Ridker PM, Ripatti S, Salomaa V, Samani NJ, Snieder H, Sørensen TI, Spector TD, Stefansson K, Tönjes A, Tuomilehto J, Uitterlinden AG, Uusitupa M, van der Harst P, Vollenweider P, Wallaschofski H, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Abecasis GR, Assimes TL, Barroso I, Boehnke M, Borecki IB, Deloukas P, Fox CS, Frayling T, Groop LC, Haritunian T, Heid IM, Hunter D, Kaplan RC, Karpe F, Moffatt MF, Mohlke KL, O’Connell JR, Pawitan Y, Schadt EE, Schlessinger D, Steinthorsdottir V, Strachan DP, Thorsteinsdottir U, van Duijn CM, Visscher PM, Di Blasio AM, Hirschhorn JN, Lindgren CM, Morris AP, Meyre D, Scherag A, McCarthy MI, Speliotes EK, North KE, Loos RJ, Ingelsson E (2013) Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics 45:501-512.

10. Böhmer AC, Mangold E, Tessmann P, Mossey PA, Steegers-Theunissen RP, Lindemans J, Bouwman-Both M, Rubini M, Franceschelli P, Aiello V, Peterlin B, Molloy AM, Nöthen MM, Knapp M, Ludwig KU (2013) Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample. American Journal of Medical Genetics A 161:2545-2549.

11. Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH (2013) Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. American Journal of Human Genetics 92:781-791.

12. Chapman J, Rees E, Harold D, Ivanov D, Gerrish A, Sims R, Hollingworth P, Stretton A, GERAD1 Consortium [Nöthen MM] ,Holmans P, Owen MJ, O’Donovan MC, Williams J, Kirov G (2013) A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer’s disease risk. Human Molecular Genetics 22:816-824.

13. Chen DT, Jiang X, Akula N, Shugart YY, Wendland JR, Steele CJ, Kassem L, Park JH, Chatterjee N, Jamain S, Cheng A, Leboyer M, Muglia P, Schulze TG, Cichon S, Nöthen MM, Rietschel M; BiGS, McMahon FJ, Kelsoe JR, Greenwood TA, Nievergelt CM, McKinney R, Shilling PD, Schork NJ, Smith EN, Bloss CS, Nurnberger JI Jr, Edenberg HJ, Foroud T, Koller DL, Gershon ES, Liu C, Badner JA, Scheftner WA, Lawson WB, Nwulia EA, Hipolito M, Coryell W, Rice J, Byerley W, McMahon FJ, Chen DT, Berrettini WH, Potash JB, Zandi PP, Mahon PB, McInnis MG, Zöllner S, Zhang P, Craig DW, Szelinger S, Barrett TB, Schulze TG (2013) Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. Molecular Psychiatry 18:195-205.

14. Choinitzki V, Zwink N, Bartels E, Baudisch F, Boemers TM, Hölscher A, Turial S, Bachour H, Heydweiller A, Kurz R, Bartmann P, Pauly M, Brokmeier U, Leutner A, Nöthen MM, Schumacher J, Jenetzky E, Reutter H (2013). Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: No evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum. Birth Defects Res A Clinical and Molecular Teratology 97: 786-791.

15. Chubb D, Weinhold N, Broderick P, Chen B, Johnson DC, Försti A, Vijayakrishnan J, Migliorini G, Dobbins SE, Holroyd A, Hose D, Walker BA, Davies FE, Gregory WA, Jackson GH, Irving JA, Pratt G, Fegan C, Fenton JA, Neben K, Hoffmann P, Nöthen MM, Mühleisen TW, Eisele L, Ross FM, Straka C, Einsele H, Langer C, Dörner E, Allan JM, Jauch A, Morgan GJ, Hemminki K, Houlston RS, Goldschmidt H (2013) Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. Nature Genetics 45: 1221-1225.

16. Classen CF*, Riehmer V*, Landwehr C, Kosfeld A, Heilmann S, Scholz C, Kabisch S, Engels H, Tierling S, Zivicnjak M, Schacherer F, Haffner D**, Weber RG** (2013) Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. Human Genetics 132:825-841. *These authors contributed equally to this work as first authors. **These authors contributed equally to this work as senior authors.

17. Collins AL, Kim Y, Szatkiewicz JP, Bloom RJ, Hilliard CE, Quackenbush CR, Meier S, Rivas F, Mayoral F, Cichon S, Nöthen MM, Rietschel M, Sullivan PF (2013) Identifying bipolar disorder susceptibility loci in a densely affected pedigree. Molecular Psychiatry 18: 1245-1246.

18. Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DH, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisén L, Gallagher L, Gejman PV, Georgieva L, Gershon ES, Geschwind DH, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holmans PA, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kähler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim Y, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lee PH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu C, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PA, Maestrini E, Magnusson PK, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Mattheisen M, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Mühleisen TW, Muir WJ, Müller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nöthen MM, Nurnberger JI, Nwulia EA, Nyholt DR, O’Dushlaine C, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Posthuma D, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, Santangelo SL, Sergeant JA, Schachar R, Schalling M, Schatzberg AF, Scheftner WA, Schellenberg GD, Scherer SW, Schork NJ, Schulze TG, Schumacher J, Schwarz M, Scolnick E, Scott LJ, Shi J, Shilling PD, Shyn SI, Silverman JM, Slager SL, Smalley SL, Smit JH, Smith EN, Sonuga-Barke EJ, St Clair D, State M, Steffens M, Steinhausen HC, Strauss JS, Strohmaier J, Stroup TS, Sutcliffe JS, Szatmari P, Szelinger S, Thirumalai S, Thompson RC, Todorov AA, Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G, Van Os J, Vicente AM, Vieland VJ, Vincent JB, Visscher PM, Walsh CA, Wassink TH, Watson SJ, Weissman MM, Werge T, Wienker TF, Wijsman EM, Willemsen G, Williams N, Willsey AJ, Witt SH, Xu W, Young AH, Yu TW, Zammit S, Zandi PP, Zhang P, Zitman FG, Zöllner S; International Inflammatory Bowel Disease Genetics Consortium (IIBDGC), Devlin B, Kelsoe JR, Sklar P, Daly MJ, O’Donovan MC, Craddock N, Sullivan PF, Smoller JW, Kendler KS, Wray NR (2013) Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics 45: 984-994.

19. Cross-Disorder Group of the Psychiatric Genomics Consortium [Cichon S, Degenhardt F, Mühleisen TW, Nöthen MM, Propping P, Schumacher J], Smoller JW, Craddock N, Kendler K, Lee PH, Neale BM, Nurnberger JI, Ripke S, Santangelo S, Sullivan PF (2013) Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet. 381:1371-1379. Erratum in: Lancet 2013, 381:1360.

20. de Blaauw I, Wijers CH, Schmiedeke E, Holland-Cunz S, Gamba P, Marcelis CL, Reutter H, Aminoff D, Schipper M, Schwarzer N, Grasshoff-Derr S, Midrio P, Jenetzky E, van Rooij IA (2013) First results of a European multi-center registry of patients with anorectal malformations. Journal of Pediatric Surgery 48:2530-2535.

21. Defendi F, Charignon D, Ghannam A, Baroso R, Csopaki F, Allegret-Cadet M, Ponard D, Favier B, Cichon S, Nicolie B, Fain O, Martin L, Drouet C; National Reference Centre for Angioedema CREAK (2013) Enzymatic assays for the diagnosis of bradykinin-dependent angioedema. PLoS One 8:e70140.

22. Degenhardt F*, Priebe L*, Meier S, Lennertz L, Streit F, Witt SH, Hofmann A, Becker T, Mössner R, Maier W, Nenadic I, Sauer H, Mattheisen M, Buizer-Voskamp J, Ophoff RA, GROUP Consortium, Rujescu D, Giegling I, Ingason A, Wagner M, Delobel B, Andrieux J, Meyer-Lindenberg A, Heinz A, Walter H, Moebus S, Corvin A, Wellcome Trust Case Control Consortium 2, International Schizophrenia Consortium, deCODE genetics, Rietschel M, Nöthen MM, Cichon S (2013) Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets. Translational Psychiatr 3:e326. *These authors contributed equally to this work.

23. 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 (2013) No evidence for an involvement of copy number variation in ABCA13 in schizophrenia, bipolar disorder, or major depressive disorder. Psychiatric Genetics 23:45-46.

24. Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U (2013) The Phenotypic Spectrum Of Duplication 5q35.2-q35.3 Encompassing NSD1: Is It Really A Reversed Sotos Syndrome? American Journal of Medical Genetics A 161:2158-2166.

25. Draaken M*, Mughal SS*, Pennimpede T, Wolter S, Wittler L, Ebert AK, Rösch W, Stein R, Bartels E, Schmidt D, Boemers TM, Schmiedeke E, Hoffmann P, Moebus S, Herrmann BG, Nöthen MM, Reutter H, Ludwig M (2013) Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12. Birth Defects Research A Clinical Molecular Teratology 97:133-139. *These authors contributed equally to the work.

26. Dworschak GC, Draaken M, Hilger A, Born M, Reutter H, Ludwig M (2013) An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. International Journal of Molecular Medicine 32:174-178.

27. Dworschak GC, Draaken M, Marcelis C, de Blaauw I, Pfundt R, van Rooij IA, Bartels E, Hilger A, Jenetzky E, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rißmann A, Nöthen MM, Zwink N, Ludwig M, Reutter H (2013) De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations. American Journal of Medical Genetics A 161:3035-3041.

28. Easton AC, Lucchesi W, Lourdusamy A, Lenz B, Solati J, Golub Y, Lewczuk P, Fernandes C, Desrivieres S, Dawirs RR, Moll GH, Kornhuber J, Frank J, Hoffmann P, Soyka M, Kiefer F; GESGA Consortium [Cichon S, Herms S, Nöthen MM], Schumann G, Peter Giese K, Müller CP (2013) αCaMKII autophosphorylation controls the establishment of alcohol drinking behavior. Neuropsychopharmacology 38:1636-1647. Erratum in: Neuropsychopharmacology 38:2735.

29. Eggermann T, Elbracht M, Schröder C, Reutter H, Soellner L, Spengler S, Begemann M (2013) Congenital Imprinting Disorders: A Novel Mechanism Linking Seemingly Unrelated Disorders. The Journal of Pediatrics 163:1202-1207.

30. Ellinghaus D, Baurecht H, Esparza-Gordillo J, Rodríguez E, Matanovic A, Marenholz I, Hübner N, Schaarschmidt H, Novak N, Michel S, Maintz L, Werfel T, Meyer-Hoffert U, Hotze M, Prokisch H, Heim K, Herder C, Hirota T, Tamari M, Kubo M, Takahashi A, Nakamura Y, Tsoi LC, Stuart P, Elder JT, Sun L, Zuo X, Yang S, Zhang X, Hoffmann P, Nöthen MM, Fölster-Holst R, Winkelmann J, Illig T, Boehm BO, Duerr RH, Büning C, Brand S, Glas J, McAleer MA, Fahy CM, Kabesch M, Brown S, McLean WH, Irvine AD, Schreiber S, Lee YA, Franke A, Weidinger S (2013) High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nature Genetics 45:808-812.

31. Ellinghaus D, Zhang H, Zeissig S, Lipinski S, Till A, Jiang T, Stade B, Bromberg Y, Ellinghaus E, Keller A, Rivas MA, Skieceviciene J, Doncheva NT, Liu X, Liu Q, Jiang F, Forster M, Mayr G, Albrecht M, Häsler R, Boehm BO, Goodall J, Berzuini CR, Lee J, Andersen V, Vogel U, Kupcinskas L, Kayser M, Krawczak M, Nikolaus S, Weersma RK, Ponsioen CY, Sans M, Wijmenga C, Strachan DP, McArdle WL, Vermeire S, Rutgeerts P, Sanderson JD, Mathew CG, Vatn MH, Wang J, Nöthen MM, Duerr RH, Büning C, Brand S, Glas J, Winkelmann J, Illig T, Latiano A, Annese V, Halfvarson J, D’Amato M, Daly MJ, Nothnagel M, Karlsen TH, Subramani S, Rosenstiel P, Schreiber S, Parkes M, Franke A (2013) Association Between Variants of PRDM1 and NDP52 and Crohn’s Disease, Based on Exome Sequencing and Functional Studies. Gastroenterology 145:339-347.

32. Erdmann J, Stark K, Esslinger UB, Rumpf PM, Koesling D, de Wit C, Kaiser FJ, Braunholz D, Medack A, Fischer M, Zimmermann ME, Tennstedt S, Graf E, Eck S, Aherrahrou Z, Nahrstaedt J, Willenborg C, Bruse P, Brænne I, Nöthen MM, Hofmann P, Braund PS, Mergia E, Reinhard W, Burgdorf C, Schreiber S, Balmforth AJ, Hall AS, Bertram L, Steinhagen-Thiessen E, Li SC, März W, Reilly M, Kathiresan S, McPherson R, Walter U; CARDIoGRAM, Ott J, Samani NJ, Strom TM, Meitinger T, Hengstenberg C, Schunkert H (2013) Dysfunctional nitric oxide signalling increases risk of myocardial infarction. Nature 504:432-436.

33. Erk S, Meyer-Lindenberg A, Schmierer P, Grimm O, Tost H, Mühleisen T, Mattheisen M, Seiferth N, Cichon S, Rietschel M, Nöthen MM, Heinz A, Walter H (2013) Functional impact of a recently identified quantitative trait locus for hippocampal volume with genome-wide support. Translational Psychiatry 3:e287.

34. Esparza-Gordillo J, Schaarschmidt H, Liang L, Cookson W, Bauerfeind A, Lee-Kirsch MA, Nemat K, Henderson J, Paternoster L, Harper JL, Mangold E, Nothen MM, Rüschendorf F, Kerscher T, Marenholz I, Matanovic A, Lau S, Keil T, Bauer CP, Kurek M, Ciechanowicz A, Macek M, Franke A, Kabesch M, Hubner N, Abecasis G, Weidinger S, Moffatt M, Lee YA. A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis. Journal of Allergy and Clinical Immunology 132:371-377.

35. Fears R, ter Meulen V; EASAC–FEAM Working Group [Propping P, Nöthen M] (2013) The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes. European Journal of Human Genetics 21:703-707.

36. Fernandes CP, Christoforou A, Giddaluru S, Ersland KM, Djurovic S, Mattheisen M, Lundervold AJ, Reinvang I, Nöthen MM, Rietschel M, Ophoff RA; Genetic Risk and Outcome of Psychosis (GROUP), Hofman A, Uitterlinden AG, Werge T, Cichon S, Espeseth T, Andreassen OA, Steen VM, Le Hellard S (2013) A genetic deconstruction of neurocognitive traits in schizophrenia and bipolar disorder. PLoS One 8:e81052.

37. Frampton M, da Silva Filho MI, Broderick P, Thomsen H, Försti A, Vijayakrishnan J, Cooke R, Enciso-Mora V, Hoffmann P, Nöthen MM, Lloyd A, Holroyd A, Eisele L, Jöckel KH, Ponader S, von Strandmann EP, Lightfoot T, Roman E, Lake A, Montgomery D, Jarrett RF, Swerdlow AJ, Engert A, Hemminki K, Houlston RS (2013) Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin’s lymphoma (2013) Nature Communications 2013;4:2549.

38. Ghannam A, Defendi F, Charignon D, Csopaki F, Favier B, Habib M, Cichon S, Drouet C (2013) Contact system activation in patients with HAE and normal C1 inhibitor function. Immunology and Allergy Clinics of North America 33:513-533.

39. González-Carmona MA, Quasdorff M, Vogt A, Tamke A, Yildiz Y, Hoffmann P, Lehmann T, Bartenschlager R, Engels JW, Kullak-Ublick GA, Sauerbruch T, Caselmann WH (2013) Inhibition of hepatitis C virus RNA translation by antisense bile acid conjugated phosphorothioate modified oligodeoxynucleotides (ODN). Antiviral Research 97:49-59.

40. Grimminger T, Pernhorst K, Surges R, Niehusmann P, Priebe L, von Lehe M, Hoffmann P, Cichon S, Schoch S, Becker AJ (2013) Levetiracetam resistance: Synaptic signatures & corresponding promoter SNPs in epileptic hippocampi. Neurobiology of Disease 60:115-125.

41. Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group [Nöthen MM] (2013) TREM2 variants in Alzheimer’s disease. New England Journal of Medicine 368:117-127.

42. Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O’Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O’Donovan MC, Lencz T, Kirov G; Molecular Genetics of Schizophrenia Consortium; Wellcome Trust Case Control Consortium 2 (2013) Implication of a rare deletion at distal 16p11.2 in schizophrenia. JAMA Psychiatry 70:253-260.

43. Haenisch B, Herms S, Mattheisen M, Steffens M, Breuer R, Strohmaier J, Degenhardt F, Schmäl C, Lucae S, Maier W, Rietschel M, Nöthen MM, Cichon S (2013) Genome-wide association data provide further support for an association between 5-HTTLPR and major depressive disorder.Journal of Affective Disorders 146:438-440.

44. Haenisch B, Herms S, Molderings GJ (2013) The transcriptome of the human mast cell leukemia cells HMC-1.2: an approach to identify specific changes in the gene expression profile in KitD816V systemic mastocytosis. Immunologic Research 56:155-162.

45. Haenisch B*, Huber M*, Wilhelm T*, Steffens M*, Molderings GJ* (2013) Investigation into mechanisms mediating the inhibitory effect of 1,4-benzodiazepines on mast cells by gene expression profiling. Life Science 92:345-351. *All authors contributed equally to the study.

46. Hagel AF, Layritz CM, Hagel WH, Hagel HJ, Hagel E, Dauth W, Kressel J, Regnet T, Rosenberg A, Neurath MF, Molderings GJ, Raithel M. Intravenous infusion of ascorbic acid decreases serum histamine concentrations in patients with allergic and non-allergic diseases. Naunyn Schmiedeberg’s Archives of Pharmacology 386:789-793.

47. Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R (2013) Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. American Journal of Human Genetics 92:575-583.

48. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O’Donovan M, Owen MJ, Williams J (2013) Corrigendum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer’s disease (Nat Genet 41:1088-1093, 2009). Nature Genetics 45:712.

49. Hass J, Walton E, Kirsten H, Liu J, Priebe L, Wolf C, Karbalai N, Gollub R, White T, Roessner V, Müller KU, Paus T, Smolka MN, Schumann G; IMAGEN Consortium, Scholz M, Cichon S, Calhoun V, Ehrlich S (2013) A Genome-Wide Association Study Suggests Novel Loci Associated with a Schizophrenia-Related Brain-Based Phenotype. PLoS One 8:e64872.

50. Heilmann S, Brockschmidt FF, Hillmer AM, Hanneken S, Eigelshoven S, Ludwig KU, Herold C, Mangold E, Becker T, Kruse R, Knapp M, Nöthen MM (2013) Evidence for a polygenic contribution to androgenetic alopecia. British Journal of Dermatology 169:927-930.

51. Heilmann S, Kiefer AK, Fricker N, Drichel D, Hillmer AM, Herold C, Tung JY, Eriksson N, Redler S, Betz RC, Li R, Kárason A, Nyholt DR, Song K, Vermeulen SH, Kanoni S, Dedoussis G, Martin NG, Kiemeney LA, Mooser V, Stefansson K, Richards JB, Becker T, Brockschmidt FF*, Hinds DA*, Nöthen MM* (2013) Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology. Journal of Investigative Dermatology 133:1489-1496. *These authors contributed equally to this work.

52. Heilmann S, Nyholt DR, Brockschmidt FF, Hillmer AM, Herold C; The MAAN consortium, Becker T, Martin NG, Nöthen MM (2013) No genetic support for a contribution of prostaglandins to the aetiology of androgenetic alopecia. British Journal of Dermatology 169:222-224.

53. Herold C*, Ramirez A*, Drichel D, Lacour A, Vaitsiakhovich T, Nöthen MM, Jessen F, Maier W, Becker T (2013) A one-degree-of-freedom test for supra-multiplicativity of SNP effects. PLoS One 8:e78038. *These authors contributed equally to this work.

54. Hilger A, Schramm C, Pennimpede T, Wittler L, Dworschak GC, Bartels E, Engels H, Zink AM, Degenhardt F, Müller AM, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Wijers CH, Marcelis CL, van Rooij IA, Hildebrandt F, Herrmann BG, Nöthen MM, Ludwig M, Reutter H, Draaken M (2013) De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. European Journal of Human Genetics 21:1377-1382.

55. Hoffmann K, Xifró RA, Hartweg JL, Spitzlei P, Meis K, Molderings GJ, von Kügelgen I (2013) Inhibitory effects of benzodiazepines on the adenosine A(2B) receptor mediated secretion of interleukin-8 in human mast cells. European Journal of Pharmacology 700:152-158.

56. Hu YJ, Berndt SI, Gustafsson S, Ganna A; Genetic Investigation of ANthropometric Traits (GIANT) [Mühleisen TW] Consortium, Hirschhorn J, North KE, Ingelsson E, Lin DY (2013) Meta-analysis of gene-level associations for rare variants based on single-variant statistics. American Journal of Human Genetics 93:236-248.

57. Judy JT, Seifuddin F, Pirooznia M, Mahon PB; Bipolar Genome Study Consortium, Jancic D, Goes FS, Schulze T, Cichon S, Noethen M, Rietschel M, Depaulo JR Jr, Potash JB, Zandi PP (2013) Converging Evidence for Epistasis between ANK3 and Potassium Channel Gene KCNQ2 in Bipolar Disorder. Frontiers in Genetics 2013 May 17;4:87.

58. Karagiannidis I, Dehning S, Sandor P, Tarnok Z, Rizzo R, Wolanczyk T, Madruga-Garrido M, Hebebrand J, Nöthen MM, Lehmkuhl G, Farkas L, Nagy P, Szymanska U, Anastasiou Z, Stathias V, Androutsos C, Tsironi V, Koumoula A, Barta C, Zill P, Mir P, Müller N, Barr C, Paschou P (2013) Support of the histaminergic hypothesis in Tourette Syndrome: association of the histamine decarboxylase gene in a large sample of families. Journal of Medical Genetics 50:760-764.

59. Kaths M, Gockel I, Kaudel P, Gönner U, Kiesslich R, Steinke V, Lang H (2013) Malignomsuspekte Läsion des Magens bei hereditärem Tumorsyndrom. Endoskopische Resektion oder Gastrektomie? [Suspected malignant gastric lesion in hereditary tumor syndrome : Endoscopic resection or gastrectomy?] Chirurg 84:594-597.

60. Köhler A, Chen B, Gemignani F, Elisei R, Romei C, Figlioli G, Cipollini M, Cristaudo A, Bambi F, Hoffmann P, Herms S, Kalemba M, Kula D, Harris S, Broderick P, Houlston R, Pastor S, Marcos R, Velázquez A, Jarzab B, Hemminki K, Landi S, Försti A (2013) Genome-wide association study on differentiated thyroid cancer. The Journal of Clinical Endocrinology and Metabolism 98: E1674-1681.

61. Krug A, Krach S, Jansen A, Nieratschker V, Witt SH, Shah NJ, Nöthen MM, Rietschel M, Kircher T (2013) The effect of neurogranin on neural correlates of episodic memory encoding and retrieval. Schizophrenia Bulletin 39:141-150.

62. Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Hollingworth P, Ramirez A, 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, Morón FJ, 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, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F; European Alzheimer’s Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer’s Disease; Alzheimer’s Disease Genetic Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology, Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert JR, 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, Wang LS, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Jones L, Haines JL, Holmans PA, Lathrop M, Pericak-Vance MA, Launer LJ, Farrer LA, van Duijn CM, Van Broeckhoven C, Moskvina V, Seshadri S, Williams J, Schellenberg GD, Amouyel P (2013) Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease. Nature Genetics 45:1452-1458.

63. Lee SH, Harold D, Nyholt DR; ANZGene Consortium; International Endogene Consortium; Genetic and Environmental Risk for Alzheimer’s disease Consortium [Nöthen MM], Goddard ME, Zondervan KT, Williams J, Montgomery GW, Wray NR, Visscher PM (2013) Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer’s disease, multiple sclerosis and endometriosis. Humen Molecular Genetics 22:832-841.

64. Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S (2013) Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics 45:1067-1072.

65. Lencz T, Guha S, Liu C, Rosenfeld J, Mukherjee S, DeRosse P, John M, Cheng L, Zhang C, Badner JA, Ikeda M, Iwata N, Cichon S, Rietschel M, Nöthen MM, Cheng AT, Hodgkinson C, Yuan Q, Kane JM, Lee AT, Pisanté A, Gregersen PK, Pe’er I, Malhotra AK, Goldman D, Darvasi A (2013) Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder. Nature Communications 4:2739.

66. Liu JZ, Hov JR, Folseraas T, Ellinghaus E, Rushbrook SM, Doncheva NT, Andreassen OA, Weersma RK, Weismüller TJ, Eksteen B, Invernizzi P, Hirschfield GM, Gotthardt DN, Pares A, Ellinghaus D, Shah T, Juran BD, Milkiewicz P, Rust C, Schramm C, Müller T, Srivastava B, Dalekos G, Nöthen MM, Herms S, Winkelmann J, Mitrovic M, Braun F, Ponsioen CY, Croucher PJ, Sterneck M, Teufel A, Mason AL, Saarela J, Leppa V, Dorfman R, Alvaro D, Floreani A, Onengut-Gumuscu S, Rich SS, Thompson WK, Schork AJ, Næss S, Thomsen I, Mayr G, König IR, Hveem K, Cleynen I, Gutierrez-Achury J, Ricaño-Ponce I, van Heel D, Björnsson E, Sandford RN, Durie PR, Melum E, Vatn MH, Silverberg MS, Duerr RH, Padyukov L, Brand S, Sans M, Annese V, Achkar JP, Boberg KM, Marschall HU, Chazouillères O, Bowlus CL, Wijmenga C, Schrumpf E, Vermeire S, Albrecht M; UK-PSCSC Consortium; International IBD Genetics Consortium, Rioux JD, Alexander G, Bergquist A, Cho J, Schreiber S, Manns MP, Färkkilä M, Dale AM, Chapman RW, Lazaridis KN; International PSC Study Group, Franke A, Anderson CA, Karlsen TH (2013) Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nature Genetics 45:670-675.

67. Lohmann K, Wilcox RA, Winkler S, javascript:setTextFormatInput(’strong‘,’insert_form‘,’text_ger‘,’ger‘);Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C (2013) Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Annals of Neurology 73: 537-545.

68. Ludwig KU, Sämann P, Alexander M, Becker J, Bruder J, Moll K, Spieler D, Czisch M, Warnke A, Docherty SJ, Davis OS, Plomin R, Nöthen MM, Landerl K, Müller-Myhsok B, Hoffmann P*, Schumacher J*, Schulte-Körne G*, Czamara D* (2013) A common variant in Myosin-18B contributes to mathematical abilities in children with dyslexia and intraparietal sulcus variability in adults. Translation Psychiatry 3:e229. *These authors contributed equally to this work.

69. *, Redler S*, Birch P, Drichel D, Dobson K, Tazi-Ahnini R, Teßmann P, Giehl KA, Kruse R, Lutz G, Hanneken S, Wolff H, Blume-Peytavi U, Becker T, Nöthen MM, Messenger AG, Böhm M*, Betz RC* (2013) Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss. Archives of Dermatological Research 305:249-253. *These authors contributed equally to this work.

70. Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium [Cichon S, Noethen MM, Degenhardt F, Herms S] (2013) A mega-analysis of genome-wide association studies for major depressive disorder. Molecular Psychiatry 18:497-511.

71. Manchia M, Adli M, Akula N, Ardau R, Aubry JM, Backlund L, Banzato CE, Baune BT, Bellivier F, Bengesser S, Biernacka JM, Brichant-Petitjean C, Bui E, Calkin CV, Cheng AT, Chillotti C, Cichon S, Clark S, Czerski PM, Dantas C, Zompo MD, Depaulo JR, Detera-Wadleigh SD, Etain B, Falkai P, Frisén L, Frye MA, Fullerton J, Gard S, Garnham J, Goes FS, Grof P, Gruber O, Hashimoto R, Hauser J, Heilbronner U, Hoban R, Hou L, Jamain S, Kahn JP, Kassem L, Kato T, Kelsoe JR, Kittel-Schneider S, Kliwicki S, Kuo PH, Kusumi I, Laje G, Lavebratt C, Leboyer M, Leckband SG, López Jaramillo CA, Maj M, Malafosse A, Martinsson L, Masui T, Mitchell PB, Mondimore F, Monteleone P, Nallet A, Neuner M, Novák T, O’Donovan C, Osby U, Ozaki N, Perlis RH, Pfennig A, Potash JB, Reich-Erkelenz D, Reif A, Reininghaus E, Richardson S, Rouleau GA, Rybakowski JK, Schalling M, Schofield PR, Schubert OK, Schweizer B, Seemüller F, Grigoroiu-Serbanescu M, Severino G, Seymour LR, Slaney C, Smoller JW, Squassina A, Stamm T, Steele J, Stopkova P, Tighe SK, Tortorella A, Turecki G, Wray NR, Wright A, Zandi PP, Zilles D, Bauer M, Rietschel M, McMahon FJ, Schulze TG, Alda M (2013) Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report. PLoS One 8:e65636.

72. Meier S, Strohmaier J, Breuer R, Mattheisen M, Degenhardt F, Mühleisen TW, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Wüst S (2013) Neuregulin 3 is associated with attention deficits in schizophrenia and bipolar disorder. International Journal of Neuropsychopharmacology 16:549-556.

73. Migliorini G, Fiege B, Hosking FJ, Ma Y, Kumar R, Sherborne AL, da Silva Filho MI, Vijayakrishnan J, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Romanjavascript:setTextFormatInput(’strong‘,’insert_form‘,’text_ger‘,’ger‘); E, Kinsey SE, Sheridan E, Thompson P, Hoffmann P, Nöthen MM, Mühleisen TW, Eisele L, Zimmermann M, Bartram CR, Schrappe M, Greaves M, Stanulla M, Hemminki K, Houlston RS (2013) Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. Blood 122:3298-3307.

74. Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, Nöthen MM (2013) Familial occurrence of systemic mast cell activation disease. PLoS One 8:e76241.

75. Nieratschker V, Lahtinen J, Meier S, Strohmaier J, Frank J, Heinrich A, Breuer R, Witt SH, Nöthen MM*, Rietschel M*, Hovatta I* (2013) Longer telomere length in patients with schizophrenia. Schizophrenia Research 149:116-120. *These authors contributed equally to this work.

76. Nöthen MM, Propping P (2013) Aufklärung genetischer Faktoren bei Volkskrankheiten (Identifying genetic factors in common diseases: more helpful in relation to etiology than prediction). Deutsches Arzteblatt International 110:329-330.

77. Nokhbehsaim M, Eick S, Nogueira AV, Hoffmann P, Herms S, Fröhlich H, Jepsen S, Jäger A, Cirelli JA, Deschner J (2013) Stimulation of MMP-1 and CCL2 by NAMPT in PDL cells. Mediators of Inflammation 2013:437123.

78. Nowak M, Krämer B, Haupt M, Papapanou PN, Kebschull J, Hoffmann P, Schmidt-Wolf IG, Jepsen S, Brossart P, Perner S, Kebschull M (2013) Activation of invariant NK T cells in periodontitis lesions. Journal of Immunology 190:2282-2291.

79. Pasternack SM, Böckenhauer D, Refke M, Tasic V, Draaken M, Conrad C, Born M, Betz RC, Reutter H, Ludwig M (2013) A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the „O“ in OCRL. Klinische Pädiatrie 225:29-33.

80. Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC (2013) Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. American Journal of Human Genetics 92:81-87.

81. Paulus FM, Krach S, Bedenbender J, Pyka M, Sommer J, Krug A, Knake S, Nöthen MM, Witt SH, Rietschel M, Kircher T, Jansen A (2013) Partial support for ZNF804A genotype-dependent alterations in prefrontal connectivity. Human Brain Mapping 34:304-313.

82. Pechlivanis S, Mühleisen TW, Möhlenkamp S, Schadendorf D, Erbel R, Jöckel KH, Hoffmann P, Nöthen MM, Scherag A, Moebus S; Heinz Nixdorf (2013) Recall Study Investigative Group. Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study. BMC Medical Genetics 14:23.

83. Pernhorst K, Herms S, Hoffmann P, Cichon S, Schulz H, Sander T, Schoch S, Becker AJ, Grote A (213) TLR4, ATF-3 and IL8 inflammation mediator expression correlates with seizure frequency in human epileptic brain tissue. Seizure 22:675-678.

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Übersichtsarbeiten / Bücher / Kommentare

1. Forstner AJ, Degenhardt F, Schratt G, Nöthen MM (2013) MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review. Frontiers in Molecular Neuroscience 6:47.

2. Propping P (2013) Die Architektur seelischer Störungen. Frankfurter Allgemeine Zeitung 13. 11. 2013

3. Reutter H, Ludwig M (2013) VATER/VACTERL Association: Evidence for the Role of Genetic Factors. Molecular Syndromology 4:16-19.

4. Spier I, Holzapfel S, Steinke V, Aretz S (2013) Genetik gastrointestinaler Tumoren – Welche Folgen haben Keimbahnmutationen? Gastroenterologe 8:303-3015.