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Publikationsliste 2015

 

Wissenschaftliche Originalarbeiten

 

    1. 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.

    2. 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.

    3. 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.

    4. 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.

    5. 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.

    6. 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.

    7. 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.

    8. 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.

    9. 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.

    10. 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.

    11. 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.

    12. 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.

    13. 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.

    14. 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.

    15. 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.

    16. 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.

    17. 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.

    18. 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.

    19. 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.

    20. 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.

    21. 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.

    22. 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.

    23. 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.

    24. 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.

    25. 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.

    26. 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.

    27. 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.

    28. 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.

    29. 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.

    30. 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.

    31. Fritz CJ, Reutter HM, Herberg U (2015) Scimitar syndrome in a case with VACTERL association. Cardiology in the Young 25:606-609.

    32. 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.

    33. 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.

    34. 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.

    35. 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.

    36. 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

    37. 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.

    38. 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.

    39. 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.

    40. 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.

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      Übersichtsarbeiten / Bücher / Kommentare

       

      1. Betz RC (2015) Nails - more than just an ectodermal appendage: the genetics behind isolated nail disorders (Commentary). British Journal of Dermatology 173:886.

      2. 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.

      3. 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.

      4. Ramirez A (2015) Population-Based Genetic Studies: The Search for Causative Variants in Parkinson's Disease. Movement Disorders 30:1297-1300.

       

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