Publikationen 2015

Wissenschaftliche Originalarbeiten

Afrin LB, Cichocki FM, Patel K, Molderings GJ (2015) Successful treatment of mast cell activation syndrome with sunitinib. European Journal of Haematology 95:595-597.
Afrin LB, Pöhlau D, Raithel M, Haenisch B, Dumoulin FL, Homann J, Mauer UM, Harzer S, Molderings GJ (2015) Mast cell activation disease: An underappreciated cause of neurologic and psychiatric symptoms and diseases. Brain, Behavior and Immunity 50:314-321.
Aretz S, Vasen HF, Olschwang S (2015) Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) – update 2014. European Journal of Human Genetics 23. doi: 10.1038/ejhg.2014.193.
Arloth J, Bogdan R, Weber P, Frishman G, Menke A, Wagner KV, Balsevich G, Schmidt MV, Karbalai N, Czamara D, Altmann A, Trümbach D, Wurst W, Mehta D, Uhr M, Klengel T, Erhardt A, Carey CE, Conley ED; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium (PGC), Ruepp A, Müller-Myhsok B, Hariri AR, Binder EB; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium PGC [including Nöthen MM, Degenhardt F] (2015) Genetic differences in the immediate transcriptome response to stress predict risk-related brain function and psychiatric disorders. Neuron 86:1189-1202.
Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe S, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Al Shahwan S, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo YY, Brown MA, Lischinsky I; Blue Mountains Eye Study GWAS Team; Wellcome Trust Case Control Consortium 2, Crowston JG, Coote M, Zhao B, Sang J, Zhang N, You Q, Vysochinskaya V, Founti P, Chatzikyriakidou A, Lambropoulos A, Anastasopoulos E, Coleman AL, Wilson MR, Rhee DJ, Kang JH, May-Bolchakova I, Heegaard S, Mori K, Alward WL, Jonas JB, Xu L, Liebmann JM, Chowbay B, Schaeffeler E, Schwab M, Lerner F, Wang N, Yang Z, Frezzotti P, Kinoshita S, Fingert JH, Inatani M, Tashiro K, Reis A, Edward DP, Pasquale LR, Kubota T, Wiggs JL, Pasutto F, Topouzis F, Dubina M, Craig JE, Yoshimura N, Sundaresan P, John SW, Ritch R, Hauser MA, Khor C (2015). A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nature Genetics 47:387-392.
Baranowska Körberg I, Hofmeister W, Markljung E, Cao J, Nilsson D, Ludwig M, Draaken M, Holmdahl G, Barker G, Reutter H, Vukojević V, Kockum CC, Lundin J, Lindstrand A, Nordenskjöld A (2015) WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish. Human Molecular Genetics 24:5069-5078.
Basmanav FB, Forstner AJ, Fier H, Herms S, Meier S, Degenhardt F, Hoffmann P, Barth S, Fricker N, Strohmaier J, Witt SH, Ludwig M, Schmael C, Moebus S, Maier W, Mössner R, Rujescu D, Rietschel M, Lange C, Nöthen MM, Cichon S (2015) Investigation of the role of TCF4 rare sequence variants in schizophrenia. American Journal of Medical Genetics B, Neuropsychiatric Genetics 168:354-362.
Basmanav FB, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmüller J, Pulimood SA, Rütten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC (2015) Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. Journal of Investigative Dermatology 135:615-618.
Baurecht H, Hotze M, Brand S, Büning C, Cormican P, Corvin A, Ellinghaus D, Ellinghaus E, Esparza-Gordillo J, Fölster-Holst R, Franke A, Gieger C, Hubner N, Illig T, Irvine AD, Kabesch M, Lee YA, Lieb W, Marenholz I, McLean WH, Morris DW, Mrowietz U, Nair R, Nöthen MM, Novak N, O’Regan GM; PAGE Consortium, Schreiber S, Smith C, Strauch K, Stuart PE, Trembath R, Tsoi LC, Weichenthal M, Barker J, Elder JT, Weidinger S, Cordell HJ, Brown SJ (2015) Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. American Journal Human Genetics 96:104-120.
Becker J, May A, Gerges C, Anders M, Veits L, Weise K, Czamara D, Lyros O, Manner H, Terheggen G, Venerito M, Noder T, Mayershofer R, Hofer JH, Karch HW, Ahlbrand CJ, Arras M, Hofer S, Mangold E, Heilmann-Heimbach S, Heinrichs SK, Hess T, Kiesslich R, Izbicki JR, Hölscher AH, Bollschweiler E, Malfertheiner P, Lang H, Moehler M, Lorenz D, Müller-Myhsok B, Ott K, Schmidt T, Whiteman DC, Vaughan TL, Nöthen MM, Hackelsberger A, Schumacher B, Pech O, Vashist Y, Vieth M, Weismüller J, Neuhaus H, Rösch T, Ell C, Gockel I, Schumacher J (2015) Supportive evidence for FOXP1, BARX1, and FOXF1 as genetic risk loci for the development of esophageal adenocarcinoma. Cancer Medicine 4:1700-1704.
Betz RC, Petukhova L, Ripke S, Huang H, Menelaou A, Redler S, Becker T, Heilmann S, Yamany T, Duvic M, Hordinsky M, Norris D, Price VH, Mackay-Wiggan J, de Jong A, DeStefano GM, Moebus S, Böhm M, Blume-Peytavi U, Wolff H, Lutz G, Kruse R, Bian L, Amos CI, Lee A, Gregersen PK, Blaumeiser B, Altshuler D, Clynes R, de Bakker PI, Nöthen MM, Daly MJ, Christiano AM (2015) Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nature Communications 6:5966.
Björkqvist J, de Maat S, Lewandrowski U, Di Gennaro A, Oschatz C, Schönig K, Nöthen MM, Drouet C, Braley H, Nolte MW, Sickmann A, Panousis C, Maas C, Renné T (2015) Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III. Journal of Clinical Investigation 125:3132-3146.
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R (2015) Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. American Journal of Human Genetics 97:886-893.
Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ (2015) ‚Splitting versus lumping‘: Temple-Baraitser and Zimmermann-Laband Syndromes. Human Genetics 134:1089-1097.
Buch S, Stickel F, Trépo E, Way M, Herrmann A, Nischalke HD, Brosch M, Rosendahl J, Berg T, Ridinger M, Rietschel M, McQuillin A, Frank J, Kiefer F, Schreiber S, Lieb W, Soyka M, Semmo N, Aigner E, Datz C, Schmelz R, Brückner S, Zeissig S, Stephan AM, Wodarz N, Devière J, Clumeck N, Sarrazin C, Lammert F, Gustot T, Deltenre P, Völzke H, Lerch MM, Mayerle J, Eyer F, Schafmayer C, Cichon S, Nöthen MM, Nothnagel M, Ellinghaus D, Huse K, Franke A, Zopf S, Hellerbrand C, Moreno C, Franchimont D, Morgan MY, Hampe J (2015) A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis. Nature Genetics 47:1443-1448.
Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J, Schizophrenia Working Group of the Psychiatric Genomics C [including Degenhardt F, Hoffmann P, Nöthen MM], Patterson N, Daly MJ, Price AL, Neale BM (2015) LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nature Genetics 47:291-295.
Byrne EM; Psychiatric Genetics Consortium Major Depressive Disorder Working Group [including Nöthen MM, Degenhardt F], Raheja UK, Stephens SH, Heath AC, Madden PA, Vaswani D, Nijjar GV, Ryan KA, Youssufi H, Gehrman PR, Shuldiner AR, Martin NG, Montgomery GW, Wray NR, Nelson EC, Mitchell BD, Postolache TT (2105) Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder. Journal of Clinical Psychiatry 76:128-134.
Dankowski T, Buck D, Andlauer TF, Antony G, Bayas A, Bechmann L, Berthele A, Bettecken T, Chan A, Franke A, Gold R, Graetz C, Haas J, Hecker M, Herms S, Infante-Duarte C, Jöckel KH, Kieseier BC, Knier B, Knop M, Kümpfel T, Lichtner P, Lieb W, Lill CM, Limmroth V, Linker RA, Loleit V, Meuth SG, Moebus S, Müller-Myhsok B, Nischwitz S, Nöthen MM, Paul F, Pütz M, Ruck T, Salmen A, Stangel M, Stellmann JP, Strauch K, Stürner KH, Tackenberg B, Then Bergh F, Tumani H, Waldenberger M, Weber F, Wiendl H, Wildemann B, Zettl UK, Ziemann U, Zipp F, Hemmer B, Ziegler A; German Competence Network for Multiple Sclerosis (KKNMS) (2015) Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array. Genetic Epidemiology 39:601-608.
Dannlowski U, Kugel H, Grotegerd D, Redlich R, Suchy J, Opel N, Suslow T, Konrad C, Ohrmann P, Bauer J, Kircher T, Krug A, Jansen A, Baune BT, Heindel W, Domschke K, Forstner AJ, Nöthen MM, Treutlein J, Arolt V, Hohoff C, Rietschel M, Witt SH (2015) NCAN Cross-Disorder Risk Variant Is Associated With Limbic Gray Matter Deficits in Healthy Subjects and Major Depression. Neuropsychopharmacology 40:2510-2516.
Debette S, Ibrahim Verbaas CA, Bressler J, Schuur M, Smith A, Bis JC, Davies G, Wolf C, Gudnason V, Chibnik LB, Yang Q, deStefano AL, de Quervain DJ, Srikanth V, Lahti J, Grabe HJ, Smith JA, Priebe L, Yu L, Karbalai N, Hayward C, Wilson JF, Campbell H, Petrovic K, Fornage M, Chauhan G, Yeo R, Boxall R, Becker J, Stegle O, Mather KA, Chouraki V, Sun Q, Rose LM, Resnick S, Oldmeadow C, Kirin M, Wright AF, Jonsdottir MK, Au R, Becker A, Amin N, Nalls MA, Turner ST, Kardia SL, Oostra B, Windham G, Coker LH, Zhao W, Knopman DS, Heiss G, Griswold ME, Gottesman RF, Vitart V, Hastie ND, Zgaga L, Rudan I, Polasek O, Holliday EG, Schofield P, Choi SH, Tanaka T, An Y, Perry RT, Kennedy RE, Sale MM, Wang J, Wadley VG, Liewald DC, Ridker PM, Gow AJ, Pattie A, Starr JM, Porteous D, Liu X, Thomson R, Armstrong NJ, Eiriksdottir G, Assareh AA, Kochan NA, Widen E, Palotie A, Hsieh YC, Eriksson JG, Vogler C, van Swieten JC, Shulman JM, Beiser A, Rotter J, Schmidt CO, Hoffmann W, Nöthen MM, Ferrucci L, Attia J, Uitterlinden AG, Amouyel P, Dartigues JF, Amieva H, Räikkönen K, Garcia M, Wolf PA, Hofman A, Longstreth WT Jr, Psaty BM, Boerwinkle E, DeJager PL, Sachdev PS, Schmidt R, Breteler MM, Teumer A, Lopez OL, Cichon S, Chasman DI, Grodstein F, Müller-Myhsok B, Tzourio C, Papassotiropoulos A, Bennett DA, Ikram MA, Deary IJ, van Duijn CM, Launer L, Fitzpatrick AL, Seshadri S, Mosley TH Jr; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (2015) Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Biological Psychiatry 77:749-763.
Dessart P, Defendi F, Humeau H, Nicolie B, Sarre ME, Charignon D, Ponard D, Cichon S, Drouet C, Martin L (2015) Distinct conditions support a novel classification for bradykinin-mediated angio-oedema. Dermatology 230:324-331.
Draaken M, Knapp M, Pennimpede T, Schmidt JM, Ebert AK, Rösch W, Stein R, Utsch B, Hirsch K, Boemers TM, Mangold E, Heilmann S, Ludwig KU, Jenetzky E, Zwink N, Moebus S, Herrmann BG, Mattheisen M, Nöthen MM, Ludwig M*, Reutter H* (2015) Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy. PLoS Genetics 11:e1005024. *These authors contributed equally to this work.
Dworschak GC, Draaken M, Hilger AC, Schramm C, Bartels E, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Lacher M, Jenetzky E, Zwink N, Schmidt D, Nöthen MM, Ludwig M, Reutter H (2015) Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities. Birth Defects Research Part A Clinical Molecular Teratology 103:235-242.
Ehret J*, Engels H*, Cremer K, Becker J, Zimmermann J, Wohlleber E, Grasshoff U, Rossier E, Bonin M, Mangold E, Bevot A, Schön S, Heilmann-Heimbach S, Dennert N, Mathieu-Dramard M, Lacaze E, Plessis G, de Broca A, Jedraszak G, Röthlisberger B, Miny P, Filges I, Dufke A, Andrieux J*, Lee J*, Zink A* (2015) Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is <it>STXBP1</it> not the only causative gene? Molecular Cytogenetics 8:72. *These authors contributed equally to this work.
Escott-Price V, Sims R, Bannister C, Harold D, Vronskaya M, Majounie E, Badarinarayan N; GERAD/PERADES; IGAP consortia, Morgan K, Passmore P, Holmes C, Powell J, Brayne C, Gill M, Mead S, Goate A, Cruchaga C, Lambert JC, van Duijn C, Maier W, Ramirez A, Holmans P, Jones L, Hardy J, Seshadri S, Schellenberg GD, Amouyel P, Williams J (2015) Common polygenic variation enhances risk prediction for Alzheimer’s disease. Brain 138:3673-3684.
Farrell MS, Werge T, Sklar P, Owen MJ, Ophoff RA, O’Donovan MC, Corvin A, Cichon S, Sullivan PF (2015) Evaluating historical candidate genes for schizophrenia. Molecular Psychiatry 20:555-562.
Figlioli G, Chen B, Elisei R, Romei C, Campo C, Cipollini M, Cristaudo A, Bambi F, Paolicchi E, Hoffmann P, Herms S, Kalemba M, Kula D, Pastor S, Marcos R, Velázquez A, Jarząb B, Landi S, Hemminki K, Gemignani F, Försti A (2015) Novel genetic variants in differentiated thyroid cancer and assessment of the cumulative risk. Scientific Reports 5:8922.
Fischer A, Ellinghaus D, Nutsua M, Hofmann S, Montgomery CG, Iannuzzi MC, Rybicki BA, Petrek M, Mrazek F, Pabst S, Grohé C, Grunewald J, Ronninger M, Eklund A, Padyukov L, Mihailovic-Vucinic V, Jovanovic D, Sterclova M, Homolka J, Nöthen MM, Herms S, Gieger C, Strauch K, Winkelmann J, Boehm BO, Brand S, Büning C, Schürmann M, Ellinghaus E, Baurecht H, Lieb W, Nebel A, Müller-Quernheim J, Franke A, Schreiber S; GenPhenReSa Consortium (2015) Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk. American Journal of Respiratory and Critical Care Medicine 192:727-736.
Forstner AJ*, Hofmann A*, Maaser A, Sumer S, Khudayberdiev S, Mühleisen TW, Leber M, Schulze TG, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, 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, Sivalingam S, Verhaert A, Schulz H, 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, Krasnov V, Chuchalin A, Babadjanova G, Pantelejeva G, Abramova LI, Tiganov AS, Polonikov A, Khusnutdinova E, Alda M, Cruceanu C, Rouleau GA, Turecki G, Laprise C, Rivas F, Mayoral F, Kogevinas M, Grigoroiu-Serbanescu M, Propping P, Becker T, Rietschel M, Cichon S, Schratt G, Nöthen MM (2015) Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder. Translational Psychiatry 5:e678. *These authors contributed equally to this work.
Frank J, Lang M, Witt SH, Strohmaier J, Rujescu D, Cichon S, Degenhardt F, Nöthen MM, Collier DA, Ripke S, Naber D, Rietschel M (2015) Identification of increased genetic risk scores for schizophrenia in treatment-resistant patients. Molecular Psychiatry 20:150-151.
Fritz CJ, Reutter HM, Herberg U (2015) Scimitar syndrome in a case with VACTERL association. Cardiology in the Young 25:606-609.
Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, William Rayner N, Robertson N, Scott RA, Prokopenko I, Scott LJ, Green T, Sparso T, Thuillier D, Yengo L, Grallert H, Wahl S, Frånberg M, Strawbridge RJ, Kestler H, Chheda H, Eisele L, Gustafsson S, Steinthorsdottir V, Thorleifsson G, Qi L, Karssen LC, van Leeuwen EM, Willems SM, Li M, Chen H, Fuchsberger C, Kwan P, Ma C, Linderman M, Lu Y, Thomsen SK, Rundle JK, Beer NL, van de Bunt M, Chalisey A, Kang HM, Voight BF, Abecasis GR, Almgren P, Baldassarre D, Balkau B, Benediktsson R, Blüher M, Boeing H, Bonnycastle LL, Bottinger EP, Burtt NP, Carey J, Charpentier G, Chines PS, Cornelis MC, Couper DJ, Crenshaw AT, van Dam RM, Doney AS, Dorkhan M, Edkins S, Eriksson JG, Esko T, Eury E, Fadista J, Flannick J, Fontanillas P, Fox C, Franks PW, Gertow K, Gieger C, Gigante B, Gottesman O, Grant GB, Grarup N, Groves CJ, Hassinen M, Have CT, Herder C, Holmen OL, Hreidarsson AB, Humphries SE, Hunter DJ, Jackson AU, Jonsson A, Jørgensen ME, Jørgensen T, Kao WH, Kerrison ND, Kinnunen L, Klopp N, Kong A, Kovacs P, Kraft P, Kravic J, Langford C, Leander K, Liang L, Lichtner P, Lindgren CM, Lindholm E, Linneberg A, Liu CT, Lobbens S, Luan J, Lyssenko V, Männistö S, McLeod O, Meyer J, Mihailov E, Mirza G, Mühleisen TW, Müller-Nurasyid M, Navarro C, Nöthen MM, Oskolkov NN, Owen KR, Palli D, Pechlivanis S, Peltonen L, Perry JR, Platou CG, Roden M, Ruderfer D, Rybin D, van der Schouw YT, Sennblad B, Sigurðsson G, Stančáková A, Steinbach G, Storm P, Strauch K, Stringham HM, Sun Q, Thorand B, Tikkanen E, Tonjes A, Trakalo J, Tremoli E, Tuomi T, Wennauer R, Wiltshire S, Wood AR, Zeggini E, Dunham I, Birney E, Pasquali L, Ferrer J, Loos RJ, Dupuis J, Florez JC, Boerwinkle E, Pankow JS, van Duijn C, Sijbrands E, Meigs JB, Hu FB, Thorsteinsdottir U, Stefansson K, Lakka TA, Rauramaa R, Stumvoll M, Pedersen NL, Lind L, Keinanen-Kiukaanniemi SM, Korpi-Hyövälti E, Saaristo TE, Saltevo J, Kuusisto J, Laakso M, Metspalu A, Erbel R, Jöcke KH, Moebus S, Ripatti S, Salomaa V, Ingelsson E, Boehm BO, Bergman RN, Collins FS, Mohlke KL, Koistinen H, Tuomilehto J, Hveem K, Njølstad I, Deloukas P, Donnelly PJ, Frayling TM, Hattersley AT, de Faire U, Hamsten A, Illig T, Peters A, Cauchi S, Sladek R, Froguel P, Hansen T, Pedersen O, Morris AD, Palmer CN, Kathiresan S, Melander O, Nilsson PM, Groop LC, Barroso I, Langenberg C, Wareham NJ, O’Callaghan CA, Gloyn AL, Altshuler D, Boehnke M, Teslovich TM, McCarthy MI, Morris AP; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium (2015) Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nature Geneics 47:1415-1425.
Gliem M, Müller PL, Mangold E, Bolz HJ, Stöhr H, Weber BH, Holz FG, Charbel Issa P (2015) Reticular Pseudodrusen in Sorsby Fundus Dystrophy. Ophthalmology 122:1555-1562.
Gliem M, Müller PL, Mangold E, Holz FG, Bolz HJ, Stöhr H, Weber BH, Charbel Issa P (2015) Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes. Investigative Ophthalmology and Visual Science 56:2664-2676.
Gollasch B, Basmanav FB, Nanda A, Fritz G, Mahmoudi H, Thiele H, Wehner M, Wolf S, Altmüller J, Nürnberg P, Frank J, Betz RC (2015) Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. American Journal of Medical Genetics 167:2555-2562.
Gorris R, Fischer J, Erwes KL, Kesavan J, Peterson DA, Alexander M, Nöthen MM, Peitz M, Quandel T, Karus M, Brüstle O (2015) Pluripotent stem cell-derived radial glia-like cells as stable intermediate for efficient generation of human oligodendrocytes. Glia 63:2152-2167
Goyette P, Boucher G, Mallon D, Ellinghaus E, Jostins L, Huang H, Ripke S, Gusareva ES, Annese V, Hauser SL, Oksenberg JR, Thomsen I, Leslie S, International Inflammatory Bowel Disease Genetics Consortium [including Nöthen MM] Australia and New Zealand IBDGC, Belgium IBD Genetics Consortium; Italian Group for IBD Genetic Consortium; NIDDK Inflammatory Bowel Disease Genetics Consortium; United Kingdom IBDGC, Wellcome Trust Case Control Consortium, Quebec IBD Genetics Consortium, Daly MJ, Van Steen K, Duerr RH, Barrett JC, McGovern DP, Schumm LP, Traherne JA, Carrington MN, Kosmoliaptsis V, Karlsen TH, Franke A, Rioux JD (2015) High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis. Nature Genetics 47:172-179.
Grigoroiu-Serbanescu M, Diaconu CC, Heilmann-Heimbach S, Neagu AI, Becker T (2015) Association of age-of-onset groups with GWAS significant schizophrenia and bipolar disorder loci in Romanian bipolar I patients. Psychiatry Research 230:964-967.
Günther C, Kind B, Reijns MA, Berndt N, Martinez-Bueno M, Wolf C, Tüngler V, Chara O, Lee YA, Hübner N, Bicknell L, Blum S, Krug C, Schmidt F, Kretschmer S, Koss S, Astell KR, Ramantani G, Bauerfeind A, Morris DL, Cunninghame Graham DS, Bubeck D, Leitch A, Ralston SH, Blackburn EA, Gahr M, Witte T, Vyse TJ, Melchers I, Mangold E, Nöthen MM, Aringer M, Kuhn A, Lüthke K, Unger L, Bley A, Lorenzi A, Isaacs JD, Alexopoulou D, Conrad K, Dahl A, Roers A, Alarcon-Riquelme ME, Jackson AP, Lee-Kirsch MA (2015) Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. Journal of Clinical Investigation 125:413-424.
Gurung N, Große G, Draaken M, Hilger AC, Nauman N, Müller A, Gembruch U, Merz W, Reutter H, Ludwig M (2015) Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth’s Short Tail mouse. Molecular Medicine Reports 12:1579-1583.
Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T (2015) Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical Translational Neurology 2:492-509.
Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC (2015) A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31. PLoS One 10:e0129811.
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Luo XJ, Mattheisen M, Li M, Huang L, Rietschel M, Børglum AD, Als TD, van den Oord EJ, Aberg KA, Mors O, Mortensen PB, Luo Z, Degenhardt F, Cichon S, Schulze TG, Nöthen MM; iPSYCH-GEMS SCZ working group; MooDS SCZ Consortium, Su B, Zhao Z, Gan L, Yao YG (2015) Systematic Integration of Brain eQTL and GWAS Identifies ZNF323 as a Novel Schizophrenia Risk Gene and Suggests Recent Positive Selection Based on Compensatory Advantage on Pulmonary Function. Schizophr Bull 41:1294-1308.
Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium [including Degenhardt F, Mühleisen TW, Nöthen MM, Propping P, Schumacher J], Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH (2015) Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. American Journal of Human Genetics 96:283-294.
Mansi M, Zanichelli A, Coerezza A, Suffritti C, Wu MA, Vacchini R, Stieber C, Cichon S, Cicardi M (2015) Presentation, diagnosis and treatment of angioedema without wheals: a retrospective analysis of a cohort of 1058 patients. Journal of Internal Medicine 277:585-593
Marenholz I, Esparza-Gordillo J, Rüschendorf F, Bauerfeind A, Strachan DP, Spycher BD, Baurecht H, Margaritte-Jeannin P, Sääf A, Kerkhof M, Ege M, Baltic S, Matheson MC, Li J, Michel S, Ang WQ, McArdle W, Arnold A, Homuth G, Demenais F, Bouzigon E, Söderhäll C, Pershagen G, de Jongste JC, Postma DS, Braun-Fahrländer C, Horak E, Ogorodova LM, Puzyrev VP, Bragina EY, Hudson TJ, Morin C, Duffy DL, Marks GB, Robertson CF, Montgomery GW, Musk B, Thompson PJ, Martin NG, James A, Sleiman P, Toskala E, Rodriguez E, Fölster-Holst R, Franke A, Lieb W, Gieger C, Heinzmann A, Rietschel E, Keil T, Cichon S, Nöthen MM, Pennell CE, Sly PD, Schmidt CO, Matanovic A, Schneider V, Heinig M, Hübner N, Holt PG, Lau S, Kabesch M, Weidinger S, Hakonarson H, Ferreira MA, Laprise C, Freidin MB, Genuneit J, Koppelman GH, Melén E, Dizier MH, Henderson AJ, Lee YA (2015) Meta-analysis identifies seven susceptibility loci involved in the atopic march. Nature Communications 6:8804.
Matsson H, Huss M, Persson H, Einarsdottir E, Tiraboschi E, Nopola-Hemmi J, Schumacher J, Neuhoff N, Warnke A, Lyytinen H, Schulte-Körne G, Nöthen MM, Leppänen PH, Peyrard-Janvid M, Kere J (2015) Polymorphisms in DCDC2 and S100B associate with developmental dyslexia. Journal of Human Genetics 60:399-401.
Mazzocca A, Dituri F, De Santis F, Filannino A, Lopane C, Betz RC, Li YY, Mukaida N, Winter P, Tortorella C, Giannelli G, Sabbà C (2015) Lysophosphatidic acid receptor LPAR6 supports the tumorigenicity of hepatocellular carcinoma. Cancer Research 75:532-543.
Molderings GJ (2015) The genetic basis of mast cell activation disease – looking through a glass darkly. Critical Reviews in Oncology/Hematology 93 :75-89.
Morgen K, Schneider M, Frölich L, Tost H, Plichta MM, Kölsch H, Rakebrandt F, Rienhoff O, Jessen F, Peters O, Jahn H, Luckhaus C, Hüll M, Gertz HJ, Schröder J, Hampel H, Teipel SJ, Pantel J, Heuser I, Wiltfang J, Rüther E, Kornhuber J, Maier W, Meyer-Lindenberg A (2015) Apolipoprotein E-dependent load of white matter hyperintensities in Alzheimer’s disease: a voxel-based lesion mapping study. Alzheimers Research &Therapy 7:27.
Müller PL, Gliem M, Mangold E, Bolz HJ, Finger RP, McGuinness M, Betz C, Jiang Z, Weber BH, MacLaren RE, Holz FG, Radu RA, Charbel Issa P (2015) Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study. Investigative Ophthalmology & Visual Science 56:8179-8186.
Nenadic I, Maitra R, Basmanav FB, Schultz CC, Lorenz C, Schachtzabel C, Smesny S, Nöthen MM, Cichon S, Reichenbach JR, Sauer H, Schlösser RG, Gaser C (2015) ZNF804A genetic variation (rs1344706) affects brain grey but not white matter in schizophrenia and healthy subjects. Psychological Medicine 45:143-152.
Nettersheim D, Jostes S, Sharma R, Schneider S, Hofmann A, Ferreira HJ, Hoffmann P, Kristiansen G, Esteller MB, Schorle H (2015) BMP Inhibition in Seminomas Initiates Acquisition of Pluripotency via NODAL Signaling Resulting in Reprogramming to an Embryonal Carcinoma. PLoS Genetics 11:e1005415.
Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium [including Mattheisen M, Degenhard F, Mühleisen TW, Nöthen MM, Propping P, Schumacher J] (2015) Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nature Neuroscience 18:199-209.
Nickl-Jockschat T, Stöcker T, Krug A, Markov V, Maximov II, Huang R, Schneider F, Habel U, Eickhoff SB, Zerres K, Nöthen MM, Rietschel M, Jon Shah N, Treutlein J, Kircher T (2015) Genetic variation in the G72 gene is associated with increased frontotemporal fiber tract integrity. European Archives of Psychiatry and Clinical Neuroscience 265:291-301.
Nyholt DR; for the International Headache Genetics Consortium:, Anttila V, Winsvold BS, Kurth T, Stefansson H, Kallela M, Malik R, Vries BD, Terwindt GM, Ikram MA, Stam AH, Ligthart L, Freilinger T, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Aromaa A, Eriksson JG, Kaprio J, Boomsma DI, van Duijn C, Raitakari O, Järvelin MR, Zwart JA, Quaye L, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AM, Dichgans M, Wessman M, Smith GD, Stefansson K, Chasman DI, Palotie A (2015) Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies. Cephalalgia 35:489-499.
Obidiegwu JE, Sanetomo R, Flath K, Tacke E, Hofferbert HR, Hofmann A, Walkemeier B, Gebhardt C (2015) Genomic architecture of potato resistance to Synchytrium endobioticum disentangled using SSR markers and the 8.3k SolCAP SNP genotyping array. BMC Genetics 16:38.
Østergaard SD, Mukherjee S, Sharp SJ, Proitsi P, Lotta LA, Day F, Perry JR, Boehme KL, Walter S, Kauwe JS, Gibbons LE; Alzheimer’s Disease Genetics Consortium; GERAD1 Consortium [including Mühleisen TW, Nöthen MM]; EPIC-InterAct Consortium, Larson EB, Powell JF, Langenberg C, Crane PK, Wareham NJ, Scott RA (2015) Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study. PLoS Medicine 12:e1001841.
Park W, Zwink N, Rösch WH, Schmiedeke E, Stein R, Schmidt D, Noeker M, Jenetzky E, Reutter H, Ebert AK (2015) Sexual function in adult patients with classic bladder exstrophy: A multicenter study. Journal of Pediatric Urology 11:125e.1-6.
Paternoster L, Standl M, Waage J, Baurecht H, Hotze M, Strachan DP, Curtin JA, Bønnelykke K, Tian C, Takahashi A, Esparza-Gordillo J, Alves AC, Thyssen JP, den Dekker HT, Ferreira MA, Altmaier E, Sleiman PM, Xiao FL, Gonzalez JR, Marenholz I, Kalb B, Pino-Yanes M, Xu CJ, Carstensen L, Groen-Blokhuis MM, Venturini C, Pennell CE, Barton SJ, Levin AM, Curjuric I, Bustamante M, Kreiner-Møller E, Lockett GA, Bacelis J, Bunyavanich S, Myers RA, Matanovic A, Kumar A, Tung JY, Hirota T, Kubo M, McArdle WL, Henderson AJ, Kemp JP, Zheng J, Smith GD, Rüschendorf F, Bauerfeind A, Lee-Kirsch MA, Arnold A, Homuth G, Schmidt CO, Mangold E, Cichon S, Keil T, Rodríguez E, Peters A, Franke A, Lieb W, Novak N, Fölster-Holst R, Horikoshi M, Pekkanen J, Sebert S, Husemoen LL, Grarup N, de Jongste JC, Rivadeneira F, Hofman A, Jaddoe VW, Pasmans SG, Elbert NJ, Uitterlinden AG, Marks GB, Thompson PJ, Matheson MC, Robertson CF; Australian Asthma Genetics Consortium (AAGC), Ried JS, Li J, Zuo XB, Zheng XD, Yin XY, Sun LD, McAleer MA, O’Regan GM, Fahy CM, Campbell L, Macek M, Kurek M, Hu D, Eng C, Postma DS, Feenstra B, Geller F, Hottenga JJ, Middeldorp CM, Hysi P, Bataille V, Spector T, Tiesler CM, Thiering E, Pahukasahasram B, Yang JJ, Imboden M, Huntsman S, Vilor-Tejedor N, Relton CL, Myhre R, Nystad W, Custovic A, Weiss ST, Meyers DA, Söderhäll C, Melén E, Ober C, Raby BA, Simpson A, Jacobsson B, Holloway JW, Bisgaard H, Sunyer J, Probst-Hensch NM, Williams LK, Godfrey KM, Wang CA, Boomsma DI, Melbye M, Koppelman GH, Jarvis D, McLean WH, Irvine AD, Zhang XJ, Hakonarson H, Gieger C, Burchard EG, Martin NG, Duijts L, Linneberg A, Jarvelin MR, Nöthen MM, Lau S, Hübner N, Lee YA, Tamari M, Hinds DA, Glass D, Brown SJ, Heinrich J, Evans DM, Weidinger S; EArly Genetics and Lifecourse (2015) Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. Nature Genetics 47:1449-1456.
Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK, Genetic Investigation of ANthrometric Traits (GIANT) Consortium [including Hoffmann P, Nöthen MM], Boehnke M, Raychaudhuri S, Fehrmann RS, Hirschhorn JN, Franke L (2015) Biological interpretation of genome-wide association studies using predicted gene functions. Nature Communications 6:5890.
Peykov S, Berkel S, Degenhardt F, Rietschel M, Nöthen MM, Rappold GA (2015) Rare SHANK2 variants in schizophrenia. Molecular Psychiatry 20:1487-1488.
Peykov S, Berkel S, Schoen M, Weiss K, Degenhardt F, Strohmaier J, Weiss B, Proepper C, Schratt G, Nöthen MM, Boeckers TM, Rietschel M, Rappold GA (2015) Identification and functional characterization of rare SHANK2 variants in schizophrenia. Molecular Psychiatry 20:1489-1498.
Peyrot WJ, Lee SH, Milaneschi Y, Abdellaoui A, Byrne EM, Esko T, de Geus EJ, Hemani G, Hottenga JJ, Kloiber S, Levinson DF, Lucae S; Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium (Corporate Collaborator), Martin NG, Medland SE, Metspalu A, Milani L, Noethen MM, Potash JB, Rietschel M, Rietveld CA, Ripke S, Shi J; Social Science Genetic Association Consortium (Corporate Collaborator), Willemsen G, Zhu Z, Boomsma DI, Wray NR, Penninx BW (2015) The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25 000 subjects. Molecular Psychiatry 20:735-743.
Prokopenko D, Hecker J, Silverman E, Nöthen MM, Schmid M, Lange C, Loehlein Fier H (2015) Using Network Methodology to Infer Population Substructure. PLoS One 10:e0130708.
Ramirez A, Wolfsgruber S, Lange C, Kaduszkiewicz H, Weyerer S, Werle J, Pentzek M, Fuchs A, Riedel-Heller SG, Luck T, Mösch E, Bickel H, Wiese B, Prokein J, König HH, Brettschneider C, Breteler MM, Maier W, Jessen F, Scherer M; AgeCoDe Study Group (2015) Elevated HbA1c is associated with increased risk of incident dementia in primary care patients. Journal of Alzheimers Disease 44:1203-1212.
Redler S, Angisch M, Heilmann S, Wolf S, Barth S, Basmanav BF, Giehl KA, Hanneken S, Eigelshoven S, Mangold E, Kruse R, Blaumeiser B, Böhm M, Knapp M, Garcia Bartels N, Lutz G, Wolff H, Blume-Peytavi U, Nöthen MM, Becker T, Betz RC (2015) Immunochip-based analysis: high-density genotyping of immune-related loci sheds further light on the autoimmune genetic architecture of alopecia areata. Letter. Journal of Investigative Dermatology 135:919-921.
Redler S, Pasternack SM, Wolf S, Stienen D, Wenzel J, Nöthen MM, Betz RC (2015) A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. Clinical and Experimental Dermatology 40:781-785.
Reiter R, Brosch S, Goebel I, Ludwig KU, Pickhard A, Högel J, Schlömer G, Mangold E, Kubisch C, Borck G (2015) A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate. American Journal of Medical Genetics A 167A:670-673.
Reutter H, Keppler-Noreuil K, Keegan CE, Thiele H, Yamada G, Ludwig M (2015) Genetics of bladder-exstrophy-epispadias complex (BEEC): Systematic elucidation of mendelian and multifactorial phonotypes. Current Genomics 17: 4-13.
Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, Sticht H, Pohl KJ, Cui Y, Reis A, Morrison H, Abou Jamra R (2015) Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability. Human Mutation 36:270-278.
Sharma A, Jamil MA, Nuesgen N, Schreiner F, Priebe L, Hoffmann P, Herns S, Nöthen MM, Fröhlich H, Oldenburg J, Woelfle J, El-Maarri O (2015) DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations. Clinical Epigenetics 7:76.
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, Workalemahu T, Wu JM, Buchkovich ML, Heard-Costa NL, Roman TS, Drong AW, Song C, Gustafsson S, Day FR, Esko T, Fall T, Kutalik Z, Luan J, Randall JC, Scherag A, Vedantam S, Wood AR, Chen J, Fehrmann R, Karjalainen J, Kahali B, Liu CT, Schmidt EM, Absher D, Amin N, Anderson D, Beekman M, Bragg-Gresham JL, Buyske S, Demirkan A, Ehret GB, Feitosa MF, Goel A, Jackson AU, Johnson T, Kleber ME, Kristiansson K, Mangino M, Mateo Leach I, Medina-Gomez C, Palmer CD, Pasko D, Pechlivanis S, Peters MJ, Prokopenko I, Stančáková A, Ju Sung Y, Tanaka T, Teumer A, Van Vliet-Ostaptchouk JV, Yengo L, Zhang W, Albrecht E, Ärnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Böhringer S, Bonnet F, Böttcher Y, Bruinenberg M, Carba DB, Caspersen IH, Clarke R, Daw EW, Deelen J, Deelman E, Delgado G, Doney AS, Eklund N, Erdos MR, Estrada K, Eury E, Friedrich N, Garcia ME, Giedraitis V, Gigante B, Go AS, Golay A, Grallert H, Grammer TB, Gräßler J, Grewal J, Groves CJ, Haller T, Hallmans G, Hartman CA, Hassinen M, Hayward C, Heikkilä K, Herzig KH, Helmer Q, Hillege HL, Holmen O, Hunt SC, Isaacs A, Ittermann T, James AL, Johansson I, Juliusdottir T, Kalafati IP, Kinnunen L, Koenig W, Kooner IK, Kratzer W, Lamina C, Leander K, Lee NR, Lichtner P, Lind L, Lindström J, Lobbens S, Lorentzon M, Mach F, Magnusson PK, Mahajan A, McArdle WL, Menni C, Merger S, Mihailov E, Milani L, Mills R, Moayyeri A, Monda KL, Mooijaart SP, Mühleisen TW, Mulas A, Müller G, Müller-Nurasyid M, Nagaraja R, Nalls MA, Narisu N, Glorioso N, Nolte IM, Olden M, Rayner NW, Renstrom F, Ried JS, Robertson NR, Rose LM, Sanna S, Scharnagl H, Scholtens S, Sennblad B, Seufferlein T, Sitlani CM, Vernon Smith A, Stirrups K, Stringham HM, Sundström J, Swertz MA, Swift AJ, Syvänen AC, Tayo BO, Thorand B, Thorleifsson G, Tomaschitz A, Troffa C, van Oort FV, Verweij N, Vonk JM, Waite LL, Wennauer R, Wilsgaard T, Wojczynski MK, Wong A, Zhang Q, Hua Zhao J, Brennan EP, Choi M, Eriksson P, Folkersen L, Franco-Cereceda A, Gharavi AG, Hedman ÅK, Hivert MF, Huang J, Kanoni S, Karpe F, Keildson S, Kiryluk K, Liang L, Lifton RP, Ma B, McKnight AJ, McPherson R, Metspalu A, Min JL, Moffatt MF, Montgomery GW, Murabito JM, Nicholson G, Nyholt DR, Olsson C, Perry JR, Reinmaa E, Salem RM, Sandholm N, Schadt EE, Scott RA, Stolk L, Vallejo EE, Westra HJ, Zondervan KT; 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Spier I, Holzapfel S, Altmüller J, Zhao B, Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, Stienen D, Adam R, Nürnberg P, Plotz G, Holinski-Feder E, Lifton RP, Thiele H, Hoffmann P, Steinke V, Aretz S (2015) Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. International Journal of Cancer 137:320-331.
Stieber C, Grumach AS, Cordeiro E, Constantino-Silva RN, Barth S, Hoffmann P, Pesquero JB, Renné T, Nöthen MM, Cichon S (2015) First report of a FXII gene mutation in a Brazilian family with hereditary angio-oedema with normal C1 inhibitor. British Journal of Dermatoogy 173:1102-1104.
Stuart PE, Nair RP, Tsoi LC, Tejasvi T, Das S, Kang HM, Ellinghaus E, Chandran V, Callis-Duffin K, Ike R, Li Y, Wen X, Enerback C, Gudjonsson JE, Koks S, Kingo K, Esko T, Mrowietz U, Reis A, Wichmann HE, Gieger C, Hoffmann P, Nothen MM, Winkelmann J, Kunz M, Moreta EG, Mease PJ, Ritchlin CT, Bowcock AM, Krueger GG, Lim HW, Weidinger S, Weichenthal M, Voorhees JJ, Rahman P, Gregersen PK, Franke A, Gladman DD, Abecasis GR, Elder JT (2015) Genome-wide association analysis of psoriatic arthritis and cutaneous psoriasis reveals differences in their genetic architecture. American Journal of Human Genetics 97:816-836.
Tawamie H, Wohlleber E, Uebe S, Schmäl C, Nöthen MM, Abou Jamra R (2015) Recurrent null mutation in SPG20 leads to Troyer syndrome. Molecular and Cellular Probes 29:315-318.
Tekin B, Yücelten AD, Zeybek CA, Kıykım E, Wehner M, Betz RC, Toker AE (2015) Oculocutaneous tyrosinemia: a case report with delayed diagnosis and excellent response to dietary modification. Indian Journal of Dermatology, Venereology and Leprology 81:303-305.
Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR (2015) A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. American Journal of Medical Genetics A;167A:461-475.
Thomsen H, da Silva Filho MI, Försti A, Fuchs M, Ponader S, von Strandmann EP, Eisele L, Herms S, Hoffmann P, Sundquist J, Engert A, Hemminki K (2015) Heritability estimates on Hodgkin’s lymphoma: a genomic- versus population-based approach. European Journal of Human Genetics 23:824-830.
Thomsen H, Filho MI, Woltmann A, Johansson R, Eyfjord JE, Hamann U, Manjer J, Enquist-Olsson K, Henriksson R, Herms S, Hoffmann P, Chen B, Huhn S, Hemminki K, Lenner P, Forsti A (2015) Inbreeding and homozygosity in breast cancer survival. Scientific Reports 5:16467.
Timofeeva MN, Kinnersley B, Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M, Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P, Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE, Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J, Schrumpf M, Boot A, Vasen HF, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C, Hampe J, Buch S, Propping P, Hemminki K, Försti A, Westers H, Hofstra R, Pinheiro M, Pinto C, Teixeira M, Ruiz-Ponte C, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S, Campbell H, Bishop DT, Tomlinson IP, Dunlop MG, Houlston RS (2015) Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. Sci Reports 5:16286.
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van Setten J, Išgum I, Pechlivanis S, Tragante V, de Jong PA, Smolonska J, Platteel M, Hoffmann P, Oudkerk M, de Koning HJ, Nöthen MM, Moebus S, Erbel R, Jöckel KH, Viergever MA, Mali WP, de Bakker PI (2015) Serum lipid levels, body mass index, and their role in coronary artery calcification: a polygenic analysis. Circulation. Cardiovascular Genetics 8:327-333.
Vasileiou G, Ekici AB, Uebe S, Zweier C, Hoyer J, Engels H, Behrens J, Reis A, Hadjihannas MV (2015) Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling. American Journal of Human Genetics 97:445-456.
Vijayakrishnan J, Henrion M, Moorman AV, Fiege B, Kumar R, Inacio da Silva Filho M, Holroyd A, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson PD, Hoffmann P, Nöthen MM, Mühleisen TW, Eisele L, Bartram CR, Schrappe M, Greaves M, Hemminki K, Harrison CJ, Stanulla M, Houlston RS (2015) The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A. Scientific Reports 5:15065.
Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, Genovese G, Loh PR, Bhatia G, Do R, Hayeck T, Won HH; Schizophrenia Working Group of the Psychiatric Genomics Consortium [including Degenhardt F, Nöthen MM], Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study, Kathiresan S, Pato M, Pato C, Tamimi R, Stahl E, Zaitlen N, Pasaniuc B, Belbin G, Kenny EE, Schierup MH, De Jager P, Patsopoulos NA, McCarroll S, Daly M, Purcell S, Chasman D, Neale B, Goddard M, Visscher PM, Kraft P, Patterson N, Price AL (2015) Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Amican Journal of Human Genetics 97:576-592.
Vysniauskaite M, Hertfelder HJ, Oldenburg J, Dreßen P, Brettner S, Homann J, Molderings GJ (2015) Determination of plasma heparin level improves identification of systemic mast cell activation disease. PLoS One 10:e0124912.
Wali A, Liu L, Takeichi T, Jelani M, Rahman OU, Heng YK, Thng S, Lee J, Akiyama M, McGrath JA*, Betz RC* (2015) Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR. Acta Dermato-Venereologica 95:1005-1007. *These authors contributed equally to this work.
Weber S*, Hofmann A*, Herms S, Hoffmann P, Doerfler W (2015) Destabilization of the human epigenome: consequences of foreign DNA insertions. Epigenomics 7:745-755. *These authors contributed equally to this work.
Weinhold N, Meissner T, Johnson DC, Seckinger A, Moreaux J, Försti A, Chen B, Nickel J, Chubb D, Rawstron AC, Doughty C, Dahir NB, Begum DB, Young K, Walker BA, Hoffmann P, Nöthen MM, Davies FE, Klein B, Goldschmidt H, Morgan GJ, Houlston RS, Hose D, Hemminki K (2015) The 7p15.3 (rs4487645) association for multiple myeloma shows strong allele-specific regulation of the MYC-interacting gene CDCA7L in malignant plasma cells. Haematologica 100:e110-113.
Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert MF, Raghavan S, Lipovich L, Hidalgo B, Fox K, Huffman JE, An P, Lu Y, Rasmussen-Torvik LJ, Grarup N, Ehm MG, Li L, Baldridge AS, Stančáková A, Abrol R, Besse C, Boland A, Bork-Jensen J, Fornage M, Freitag DF, Garcia ME, Guo X, Hara K, Isaacs A, Jakobsdottir J, Lange LA, Layton JC, Li M, Hua Zhao J, Meidtner K, Morrison AC, Nalls MA, Peters MJ, Sabater-Lleal M, Schurmann C, Silveira A, Smith AV, Southam L, Stoiber MH, Strawbridge RJ, Taylor KD, Varga TV, Allin KH, Amin N, Aponte JL, Aung T, Barbieri C, Bihlmeyer NA, Boehnke M, Bombieri C, Bowden DW, Burns SM, Chen Y, Chen YD, Cheng CY, Correa A, Czajkowski J, Dehghan A, Ehret GB, Eiriksdottir G, Escher SA, Farmaki AE, Frånberg M, Gambaro G, Giulianini F, Goddard WA 3rd, Goel A, Gottesman O, Grove ML, Gustafsson S, Hai Y, Hallmans G, Heo J, Hoffmann P, Ikram MK, Jensen RA, Jørgensen ME, Jørgensen T, Karaleftheri M, Khor CC, Kirkpatrick A, Kraja AT, Kuusisto J, Lange EM, Lee IT, Lee WJ, Leong A, Liao J, Liu C, Liu Y, Lindgren CM, Linneberg A, Malerba G, Mamakou V, Marouli E, Maruthur NM, Matchan A, McKean-Cowdin R, McLeod O, Metcalf GA, Mohlke KL, Muzny DM, Ntalla I, Palmer ND, Pasko D, Peter A, Rayner NW, Renström F, Rice K, Sala CF, Sennblad B, Serafetinidis I, Smith JA, Soranzo N, Speliotes EK, Stahl EA, Stirrups K, Tentolouris N, Thanopoulou A, Torres M, Traglia M, Tsafantakis E, Javad S, Yanek LR, Zengini E, Becker DM, Bis JC, Brown JB, Cupples LA, Hansen T, Ingelsson E, Karter AJ, Lorenzo C, Mathias RA, Norris JM, Peloso GM, Sheu WH, Toniolo D, Vaidya D, Varma R, Wagenknecht LE, Boeing H, Bottinger EP, Dedoussis G, Deloukas P, Ferrannini E, Franco OH, Franks PW, Gibbs RA, Gudnason V, Hamsten A, Harris TB, Hattersley AT, Hayward C, Hofman A, Jansson JH, Langenberg C, Launer LJ, Levy D, Oostra BA, O’Donnell CJ, O’Rahilly S, Padmanabhan S, Pankow JS, Polasek O, Province MA, Rich SS, Ridker PM, Rudan I, Schulze MB, Smith BH, Uitterlinden AG, Walker M, Watkins H, Wong TY, Zeggini E; EPIC-InterAct Consortium, Laakso M, Borecki IB, Chasman DI, Pedersen O, Psaty BM, Tai ES, van Duijn CM, Wareham NJ, Waterworth DM, Boerwinkle E, Kao WH, Florez JC, Loos RJ, Wilson JG, Frayling TM, Siscovick DS, Dupuis J, Rotter JI, Meigs JB, Scott RA, Goodarzi MO (2015) Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nature Communications 6:5897.
Zimmermann E, Ängquist LH, Mirza SS, Zhao JH, Chasman DI, Fischer K, Qi Q, Smith AV, Thinggaard M, Jarczok MN, Nalls MA, Trompet S, Timpson NJ, Schmidt B, Jackson AU, Lyytikäinen LP, Verweij N, Mueller-Nurasyid M, Vikström M, Marques-Vidal P, Wong A, Meidtner K, Middelberg RP, Strawbridge RJ, Christiansen L; FTO-Mortality Collaborating Group [including Nöthen MM], Kyvik KO, Hamsten A, Jääskeläinen T, Tjønneland A, Eriksson JG, Whitfield JB, Boeing H, Hardy R, Vollenweider P, Leander K, Peters A, van der Harst P, Kumari M, Lehtimäki T, Meirhaeghe A, Tuomilehto J, Jöckel KH, Ben-Shlomo Y, Sattar N, Baumeister SE, Davey Smith G, Casas JP, Houston DK, März W, Christensen K, Gudnason V, Hu FB, Metspalu A, Ridker PM, Wareham NJ, Loos RJ, Tiemeier H, Sonestedt E, Sørensen TI (2015) Is the adiposity-associated FTO gene variant related to all-cause mortality independent of adiposity? Meta-analysis of data from 169,551 Caucasian adults. Obesity Reviews 16:327-340.

Übersichtsarbeiten / Bücher / Kommentare

Betz RC (2015) Nails – more than just an ectodermal appendage: the genetics behind isolated nail disorders (Commentary). British Journal of Dermatology 173:886.
Eggermann T, Gamerdinger U, Schwanitz G (2015) Fundamental aspects of epigenetic in cancer. In: Mehdipour P (ed.): Epigenetics territory and cancer. Springer, Dordrecht 2015: 1-33.
Kaufmann A, Aretz S (2015). Grundlagen der gastrointestinalen Tumorerkrankungen – Erbliche Tumorformen. In: Erckenbrecht JF, Jonas S (Hrsg): Viszeralmedizin – ein gastroenterologisch-viszeralchirurgischer Leitfaden. Springer-Verlag Berlin Heidelberg, S. 413-421.
Ramirez A (2015) Population-Based Genetic Studies: The Search for Causative Variants in Parkinson’s Disease. Movement Disorders 30:1297-1300.