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Publikationen 2011

Publikationen 2011

  • Erdmann J, Willenborg C, Nahrstaedt J, Preuss M, König IR, Baumert J, Linsel-Nitschke P, Gieger C, Tennstedt S, Belcredi P, Aherrahrou Z, Klopp N, Loley C, Stark K, Hengstenberg C, Bruse P, Freyer J, Wagner AK, Medack A, Lieb W, Grosshennig A, Sager HB, Reinhardt A, Schafer A, Schreiber S, El Mokhtari NE, Raaz-Schrauder D, Illig T, Garlichs CD, Ekici AB, Reis A, Schrezenmeir J, Rubin D, Ziegler A, Wichmann HE, Doering A, Meisinger C, Meitinger T, Peters A, Schunkert H: (2011) Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Eur Heart J. 2011;32(2): 158-68
  • Notaridou M, Quaye L, Dafou D, Jones C, Song H, Kjaer SK, Christensen L, Blaakaer J, McGuire V, Wu AH, Van Den Berg DJ, Pike MC, Gentry-Maharaj A, Wozniak E, Sher T, Jacobs IJ, Tyrer J, Schildkraut JM, Moorman PG, Iversen ES, Jakubowska A, M?drek K, Lubi?ski J, Ness RB, Moysich KB, Lurie G, Wilkens LR, Carney ME, Wang-Gohrke S, Doherty JA, Rossing MA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Beesley J, The Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer) , Gronwald J, Fasching PA, Chang-Claude J, Goodman MT, Chenevix-Trench G, Berchuck A, Pearce CL, Whittemore AS, Menon U, Pharoah PD, Gayther SA, Ramus SJ, on behalf of the Ovarian Cancer Association Consortium: (2011) Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer. Int J Cancer. 2011;128(9): 2063-2074
  • Krumbiegel M, Pasutto F, Schlotzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nurnberg P, Kruse FE, Reis A: (2011) Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet. 2011;19(2): 186-93
  • Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F: (2011) Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. Eur J Hum Genet. 2011;19(4): 445-51
  • Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüßen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM: (2011) Common genetic variants associated with open-angle glaucoma. Hum Mol Genet. 2011;20(12): 2464-2471
  • Stevens KN, Vachon CM, Lee AM, Slager S, Lesnick T, Olswold C, Fasching PA, Miron P, Eccles D, Carpenter JE, Godwin AK, Ambrosone C, Winqvist R, Brauch H, GENICA Consortium , Schmidt MK, Cox A, Cross SS, Sawyer E, Hartmann A, Beckmann MW, Schulz-Wendtland R, Ekici AB, Tapper WJ, Gerty SM, Durcan L, Graham N, Hein R, Nickels S, Flesch-Janys D, Heinz J, Sinn HP, Konstantopoulou I, Fostira F, Pectasides D, Dimopoulos AM, Fountzilas G, Clarke CL, Balleine R, Olson JE, Fredericksen Z, Diasio RB, Pathak H, Ross E, Weaver J, Rüdiger T, Försti A, Dünnebier T, Ademuyiwa F, Kulkarni S, Pylkäs K, Jukkola-Vuorinen A, Ko YD, van Limbergen E, Janssen H, Peto J, Fletcher O, Giles GG, Baglietto L, Verhoef S, Tomlinson I, Kosma VM, Beesley J, Greco D, Blomqvist C, Irwanto A, Liu J, Blows FM, Dawson SJ, Margolin S, Mannermaa A, Martin NG, Montgomery GW, Lambrechts D, Dos Santos Silva I, Severi G, Hamann U, Pharoah P, Easton DF, Chang-Claude J, Yannoukakos D, Nevanlinna H, Wang X, Couch FJ: (2011) Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res. 2011;71(19): 6240-9
  • Broeks A, Schmidt MK, Sherman ME, Couch FJ, Hopper JL, Dite GS, Apicella C, Smith LD, Hammet F, Southey MC, Van 't Veer LJ, de Groot R, Smit VT, Fasching PA, Beckmann MW, Jud S, Ekici AB, Hartmann A, Hein A, Schulz-Wendtland R, Burwinkel B, Marme F, Schneeweiss A, Sinn HP, Sohn C, Tchatchou S, Bojesen SE, Nordestgaard BG, Flyger H, Ørsted DD, Kaur-Knudsen D, Milne RL, Pérez JI, Zamora P, Rodríguez PM, Benitez J, Brauch H, Justenhoven C, Ko YD, GENICA Network , Hamann U, Fischer HP, Bruning T, Pesch B, Chang-Claude J, Wang-Gohrke S, Bremer M, Karstens JH, Hillemanns P, Dörk T, Nevanlinna HA, Heikkinen T, Heikkilä P, Blomqvist C, Aittomäki K, Aaltonen K, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Kauppinen JM, Kataja V, Auvinen P, Eskelinen M, Soini Y, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Holland H, kConFab , AOCS , Lambrechts D, Claes B, Vandorpe T, Neven P, Wildiers H, Flesch-Janys D, Hein R, Löning T, Kosel M, Fredericksen ZS, Wang X, Giles GG, Baglietto L, Severi G, McLean C, Haiman CA, Henderson BE, Le Marchand L, Kolonel LN, Alnæs GG, Kristensen V, Børresen-Dale AL, Hunter DJ, Hankinson SE, Andrulis IL, Mulligan AM, O'Malley FP, Devilee P, Huijts PE, Tollenaar RA, van Asperen CJ, Seynaeve CS, Chanock SJ, Lissowska J, Brinton L, Peplonska B, Figueroa J, Yang XR, Hooning MJ, Hollestelle A, Oldenburg RA, Jager A, Kriege M, Ozturk B, van Leenders GJ, Hall P, Czene K, Humphreys K, Liu J, Cox A, Connley D, Cramp HE, Cross SS, Balasubramanian SP, Reed MW, Dunning AM, Easton DF, Humphreys MK, Caldas C, Blows F, Driver K, Provenzano E, Lubinski J, Jakubowska A, Huzarski T, Byrski T, Cybulski C, Górski B, Gronwald J, Brennan P, Sangrajrang S, Gaborieau V, Shen CY, Hsiung CN, Yu JC, Chen ST, Hsu GC, Hou MF, Huang CS, Anton-Culver H, Ziogas A, Pharoah PD, Garcia-Closas M, Bowtell D, Chenevix-Trench G, deFazio A, Gertig D, Green A, Webb P: (2011) Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2011;20(16): 3289-303
  • Zenkel M, Krysta A, Pasutto F, Juenemann A, Kruse FE, Schlotzer-Schrehardt U: (2011) Regulation of Lysyl Oxidase-like 1 (LOXL1) and Elastin-Related Genes by Pathogenic Factors Associated with Pseudoexfoliation Syndrome. Invest Ophthalmol Vis Sci. 2011;52(11): 8488-95
  • Bördlein A, Scherthan H, Nelkenbrecher C, Molter T, Bösl MR, Dippold C, Birke K, Kinkley S, Staege H, Will H, Winterpacht A: (2011) SPOC1 (PHF13) is required for spermatogonial stem cell differentiation and sustained spermatogenesis. J Cell Sci. 2011;124(Pt 18): 3137-48
  • Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A: (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet. 2011;88(1): 106-14
  • Kantaputra P, Tanpaiboon P, Porntaveetus T, Ohazama A, Sharpe P, Rauch A, Hussadaloy A, Thiel CT: (2011) The smallest teeth in the world are caused by mutations in the PCNT gene. Am J Med Genet A. 2011;155A(6): 1398-403
  • Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L: (2011) Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011;88(6): 788-95
  • Docampo E, Giardina E, Riveira-Munoz E, de Cid R, Escaramís G, Perricone C, Fernández-Sueiro JL, Maymó J, González-Gay MA, Blanco FJ, Hüffmeier U, Lisbona MP, Martin J, Carracedo A, Reis A, Rabionet R, Novelli G, Estivill X: (2011) Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis. Arthritis Rheum. 2011;63(7): 1860-5
  • Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C: (2011) Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet. 2011;12(): 106
  • Schick B, Wemmert S, Willnecker V, Dlugaiczyk J, Nicolai P, Siwiec H, Thiel CT, Rauch A, Wendler O: (2011) Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma. Int J Oncol. 2011;39(5): 1143-51
  • Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M: (2011) Cohen syndrome diagnosis using whole genome arrays. J Med Genet. 2011;48(2): 136-40
  • Thiel CT, Rauch A: (2011) The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. Best Pract Res Clin Endocrinol Metab. 2011;25(1): 131-42
  • Milne RL, Goode EL, Garcia-Closas M, Couch FJ, Severi G, Hein R, Fredericksen Z, Malats N, Zamora MP, Arias Pérez JI, Benitez J, Dörk T, Schürmann P, Karstens JH, Hillemanns P, Cox A, Brock IW, Elliot G, Cross SS, Seal S, Turnbull C, Renwick A, Rahman N, Shen CY, Yu JC, Huang CS, Hou MF, Nordestgaard BG, Bojesen SE, Lanng C, Grenaker Alnæs G, Kristensen V, Børrensen-Dale AL, Hopper JL, Dite GS, Apicella C, Southey MC, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Chang-Claude J, Wang-Gohrke S, Radice P, Peterlongo P, Manoukian S, Barile M, Giles GG, Baglietto L, John EM, Miron A, Chanock SJ, Lissowska J, Sherman ME, Figueroa JD, Bogdanova NV, Antonenkova NN, Zalutsky IV, Rogov YI, Fasching PA, Bayer CM, Ekici AB, Beckmann MW, Brenner H, Muller H, Arndt V, Stegmaier C, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Meindl A, Heil J, Bartram CR, Schmutzler RK, Thomas GD, Hoover RN, Fletcher O, Gibson LJ, Dos Santos Silva I, Peto J, Nickels S, Flesch-Janys D, Anton-Culver H, Ziogas A, Sawyer E, Tomlinson I, Kerin M, Miller N, Schmidt MK, Broeks A, Van 't Veer LJ, Tollenaar RA, Pharoah PD, Dunning AM, Pooley KA, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Jakubowska A, Lubinski J, Jaworska K, Durda K, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Kraft P, Lindstrom S, Chen X, Beesley J, Hamann U, Harth V, Justenhoven C, GENICA Network , Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Hooning M, Hollestelle A, Oldenburg RA, Tilanus-Linthorst M, Khusnutdinova E, Bermisheva M, Prokofieva D, Farahtdinova A, Olson JE, Wang X, Humphreys MK, Wang Q, Chenevix-Trench G, kConFab Investigators , AOCS Group , Easton DF: (2011) Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol Biomarkers Prev. 2011;20(10): 2222-31
  • Jakob A, Unger S, Arnold R, Grohmann J, Kraus C, Schlensak C, Stiller B: (2011) A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death. Cardiol Young. 2011;21(1): 62-5
  • Kraft M, Cirstea IC, Voss AK, Thomas T, Goehring I, Sheikh BN, Gordon L, Scott H, Smyth GK, Ahmadian MR, Trautmann U, Zenker M, Tartaglia M, Ekici A, Reis A, Dörr HG, Rauch A, Thiel CT: (2011) Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest. 2011;121(9): 3479-91
  • Selinski S, Blaszkewicz M, Lehmann ML, Ovsiannikov D, Moormann O, Guballa C, Kress A, Truss MC, Gerullis H, Otto T, Barski D, Niegisch G, Albers P, Frees S, Brenner W, Thuroff JW, Angeli-Greaves M, Seidel T, Roth G, Dietrich H, Ebbinghaus R, Prager HM, Bolt HM, Falkenstein M, Zimmermann A, Klein T, Reckwitz T, Roemer HC, Lohlein D, Weistenhofer W, Schöps W, Hassan Rizvi SA, Aslam M, Bánfi G, Romics I, Steffens M, Ekici AB, Winterpacht A, Ickstadt K, Schwender H, Hengstler JG, Golka K: (2011) Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype. Pharmacogenet Genomics. 2011;21(10): 673-8
  • Lurie G, Wilkens LR, Thompson PJ, Shvetsov YB, Matsuno RK, Carney ME, Palmieri RT, Wu AH, Pike MC, Pearce CL, Menon U, Gentry-Maharaj A, Gayther SA, Ramus SJ, Whittemore AS, McGuire V, Sieh W, Pharoah PD, Song H, Gronwald J, Jakubowska A, Cybulski C, Lubinski J, Schildkraut JM, Berchuck A, Krüger Kjær S, Fasching PA, Beckmann MW, Ekici AB, Hein A, Chenevix-Trench G, Webb PM, Beesley J, Australian Ovarian Cancer Study Group , Australian Cancer Study Group , Goodman MT, Ovarian Cancer Association Consortium , Bowtell D, Chenevix-Trench G, deFazio A, Gertig D, Green A, Webb PM, Green A, Parsons P, Hayward N, Webb PM, Whiteman D, Chenevix-Trench G, Johnatty SE, Beesley J, Chen X, Webb PM, Pike MC, Wu AH, Pearce CL, Edlund CK, Van Den Berg DJ, Gayther SA, Ramus SR, Fasching PA, Garcia-Closas M, Yang HP, Chanock S, Wentzensen N, Brinton LA, Anton-Culver H, Ziogas A, Brewster W, Goode EL, Fridley BL, Vierkant RA, Cunningham JM, Berchuck A, Schildkraut JM, Iversen ES, Moorman PG, Palmieri RT, Goodman MT, Carney ME, Thompson PJ, Wilkens LR, Lurie G, Cramer DW, Gates MA, De Vivo I, Hankinson SE, Tworoger SS, Terry KL, Doherty JA, Cushing-Haugen KL, Chen C, Rossing MA, Cook LS, Moysich K, DiCioccio R, Grasela MT, Ness RB, Whittemore AS, McGuire V, Sieh W, Lancaster JM, Risch HA, Hogdall C, Hogdall E, Kruger Kjaer S, Butzow R, Gentry-Maharaj A, Menon U, Pharoah PD, Perkins B, Shah M, Song H, Kelemen LE, Gronwald J, Lubinski J, Lissowska J, Chang-Claude J, Wang-Gohrke S: (2011) Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium. PLoS ONE. 2011;6(6): e20703
  • Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB: (2011) The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011;48(6): 396-406
  • Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernandez-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdottir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P: (2011) Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011;478(7367): 97-102
  • Neacsu CD, Grosch M, Tejada M, Winterpacht A, Paulsson M, Wagener R, Tagariello A: (2011) Ucmaa (Grp-2) is required for zebrafish skeletal development. Evidence for a functional role of its glutamate ?-carboxylation. Matrix Biol. 2011;30(7-8): 369-78
  • Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D: (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011;43(1): 20-2
  • Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Nöthen MM, Schumacher J, Reis A: (2011) Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet. 2011;19(11): 1161-6
  • Leon CA, Schumacher J, Kluck N, Herold C, Schulze TG, Propping P, Rietschel M, Cichon S, Nöthen MM, Jamra RA: (2011) Association study of the GRIA1 and CLINT1 (Epsin 4) genes in a German schizophrenia sample. Psychiatr Genet. 2011;21(2): 114
  • Zahnleiter D, Trautmann U, Ekici AB, Goehring I, Reis A, Dörr HG, Rauch A, Thiel CT: (2011) Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. Eur J Med Genet. 2011;54(5): e521-4
  • Milne RL, Lorenzo-Bermejo J, Burwinkel B, Malats N, Arias JI, Zamora MP, Benitez J, Humphreys MK, Garcia-Closas M, Chanock SJ, Lissowska J, Sherman ME, Mannermaa A, Kataja V, Kosma VM, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Anton-Culver H, Ziogas A, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Hall P, Czene K, Liu J, Irwanto AK, Kang D, Yoo KY, Noh DY, Couch FJ, Olson JE, Wang X, Fredericksen Z, Nordestgaard BG, Bojesen SE, Flyger H, Margolin S, Lindblom A, Fasching PA, Schulz-Wendtland R, Ekici AB, Beckmann MW, Wang-Gohrke S, Shen CY, Yu JC, Hsu HM, Wu PE, Giles GG, Severi G, Baglietto L, English DR, Cox A, Brock I, Elliott G, Reed MW, Beesley J, Chen X, Investigators K, AOCS Group , Fletcher O, Gibson L, Dos Santos Silva I, Peto J, Frank B, Heil J, Meindl A, Chang-Claude J, Hein R, Vrieling A, Flesch-Janys D, Southey MC, Smith L, Apicella C, Hopper JL, Dunning AM, Pooley KA, Pharoah PD, Hamann U, Pesch B, Ko YD, GENICA Network , Easton DF, Chenevix-Trench G: (2011) 7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium. J Med Genet. 2011;48(10): 698-702
  • Spurdle AB, Thompson DJ, Ahmed S, Ferguson K, Healey CS, O'Mara T, Walker LC, Montgomery SB, Dermitzakis ET, Australian National Endometrial Cancer Study Group , Fahey P, Montgomery GW, Webb PM, Fasching PA, Beckmann MW, Ekici AB, Hein A, Lambrechts D, Coenegrachts L, Vergote I, Amant F, Salvesen HB, Trovik J, Njolstad TS, Helland H, Scott RJ, Ashton K, Proietto T, Otton G, National Study of Endometrial Cancer Genetics Group , Tomlinson I, Gorman M, Howarth K, Hodgson S, Garcia-Closas M, Wentzensen N, Yang H, Chanock S, Hall P, Czene K, Liu J, Li J, Shu XO, Zheng W, Long J, Xiang YB, Shah M, Morrison J, Michailidou K, Pharoah PD, Dunning AM, Easton DF: (2011) Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet. 2011;43(5): 451-4
  • Hofmann K, Becker J, Heller R, Boute O, Andrieux J, Hoyer J, Ekici AB, Reis A, Rauch A: (2011) 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). Eur J Med Genet. 2011;54(5): e495-500
  • Riveira-Munoz E, He SM, Escaramís G, Stuart PE, Hüffmeier U, Lee C, Kirby B, Oka A, Giardina E, Liao W, Bergboer J, Kainu K, de Cid R, Munkhbat B, Zeeuwen PL, Armour JA, Poon A, Mabuchi T, Ozawa A, Zawirska A, Burden AD, Barker JN, Capon F, Traupe H, Sun LD, Cui Y, Yin XY, Chen G, Lim HW, Nair RP, Voorhees JJ, Tejasvi T, Pujol R, Munkhtuvshin N, Fischer J, Kere J, Schalkwijk J, Bowcock A, Kwok PY, Novelli G, Inoko H, Ryan AW, Trembath RC, Reis A, Zhang XJ, Elder JT, Estivill X: (2011) Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol. 2011;131(5): 1105-9
  • Endele S, Nelkenbrecher C, Bördlein A, Schlickum S, Winterpacht A: (2011) C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development. Neurogenetics. 2011;12(2): 155-63
  • Busche A, Graul-Neumann LM, Zweier C, Rauch A, Klopocki E, Horn D: (2011) Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. Eur J Med Genet. 2011;54(3): 256-61
  • Pharoah PD, Palmieri RT, Ramus SJ, Gayther SA, Andrulis IL, Anton-Culver H, Antonenkova N, Antoniou AC, Goldgar D, BCFR Investigators , Beattie MS, Beckmann MW, Birrer MJ, Bogdanova N, Bolton KL, Brewster W, Brooks-Wilson A, Brown R, Butzow R, Caldes T, Caligo MA, Campbell I, Chang-Claude J, Chen YA, Cook LS, Couch FJ, Cramer DW, Cunningham JM, Despierre E, Doherty JA, Dörk T, Dürst M, Eccles DM, Ekici AB, Easton D, EMBRACE Investigators , Fasching PA, de Fazio A, Fenstermacher DA, Flanagan JM, Fridley BL, Friedman E, Gao B, Sinilnikova O, GEMO Study Collaborators , Gentry-Maharaj A, Godwin AK, Goode EL, Goodman MT, Gross J, Hansen TV, Harnett P, Rookus M, HEBON Investigators , Heikkinen T, Hein R, Iversen ES, Jakubowska A, Johnatty SE, Karlan BY, Kauff ND, Kaye SB, Chenevix-Trench G, kConFab Investigators and the Consortium of Investigators of Modifiers of BRCA1/2 , Kelemen LE, Kiemeney LA, Kjaer SK, Lambrechts D, Lapolla JP, Lazaro C, Le ND, Leminen A, Leunen K, Levine DA, Lu Y, Lundvall L, Macgregor S, Marees T, Massuger LF, McLaughlin JR, Menon U, Montagna M, Moysich KB, Narod SA, Nathanson KL, Nedergaard L, Ness RB, Nevanlinna H, Nickels S, Osorio A, Paul J, Pearce CL, Phelan CM, Pike MC, Radice P, Rossing MA, Schildkraut JM, Sellers TA, Singer CF, Song H, Stram DO, Sutphen R, Lindblom A, SWE-BRCA Investigators , Terry KL, Tsai YY, van Altena AM, Vergote I, Vierkant RA, Vitonis AF, Walsh C, Wang-Gohrke S, Wappenschmidt B, Wu AH, Ziogas A, Berchuck A, Risch HA, Ovarian Cancer Association Consortium: (2011) The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing. Clin Cancer Res. 2011;17(11): 3742-50
  • Goode EL, Chenevix-Trench G, Hartmann LC, Fridley BL, Kalli KR, Vierkant RA, Larson MC, White KL, Keeney GL, Oberg TN, Cunningham JM, Beesley J, Johnatty SE, Chen X, Goodman KE, Armasu SM, Rider DN, Sicotte H, Schmidt MM, Elliott EA, Kjær SK, Fasching PA, Ekici AB, Lambrechts D, Despierre E, Lundvall L, Karlan BY, Gross J, Brown R, Chien J, Duggan DJ, Tsai YY, Phelan CM, Kelemen LE, Peethambaram PP, Schildkraut JM, Shridhar V, Sutphen R, Couch FJ, Sellers TA, Ovarian Cancer Association Consortium: (2011) Assessment of hepatocyte growth factor in ovarian cancer mortality. Cancer Epidemiol Biomarkers Prev. 2011;20(8): 1638-48
  • Waschbisch A, Volbers B, Struffert T, Hoyer J, Schwab S, Bardutzky J: (2011) Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation. J Neurol Sci. 2011;300(1-2): 191-3
  • Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D: (2011) De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet. 2011;19(5): 507-12
  • Quist SR, Franke I, Helmdach M, Kraus C, Reis A, Froster UG, Fehsecke D, Gollnick HP, Bonnekoh B: (2011) Complete basal cell carcinoma remission with imiquimod in a patient with nevoid basal cell carcinoma syndrome and associated basal cell carcinoma of the scalp and invasive ductal breast cancer. J Am Acad Dermatol. 2011;64(3): 611-3
  • Tagariell A, Breuer C, Schmidt S, Koch A, Rüffer A, Dittrich S, Schneider H, Winterpacht A, Sticht H, Dötsch J, Toka O: (2011) Functional null mutations in the gonosomal homologue gene TBL1Y associated with sporadic coarctation of the aorta Clin Res Cardiol. 2011;100(9): 860-860
  • Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, Wang X, Ademuyiwa F, Ahmed S, Ambrosone CB, Baglietto L, Balleine R, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Blot WJ, Brauch H, Buring JE, Carey LA, Carpenter JE, Chang-Claude J, Chanock SJ, Chasman DI, Clarke CL, Cox A, Cross SS, Deming SL, Diasio RB, Dimopoulos AM, Driver WR, Dünnebier T, Durcan L, Eccles D, Edlund CK, Ekici AB, Fasching PA, Feigelson HS, Flesch-Janys D, Fostira F, Försti A, Fountzilas G, Gerty SM, The Gene Environment Interaction and Breast Cancer in Germany (GENICA) Consortium , Giles GG, Godwin AK, Goodfellow P, Graham N, Greco D, Hamann U, Hankinson SE, Hartmann A, Hein R, Heinz J, Holbrook A, Hoover RN, Hu JJ, Hunter DJ, Ingles SA, Irwanto A, Ivanovich J, John EM, Johnson N, Jukkola-Vuorinen A, Kaaks R, Ko YD, Kolonel LN, Konstantopoulou I, Kosma VM, Kulkarni S, Lambrechts D, Lee AM, Le Marchand L, Lesnick T, Liu J, Lindstrom S, Mannermaa A, Margolin S, Martin NG, Miron P, Montgomery GW, Nevanlinna H, Nickels S, Nyante S, Olswold C, Palmer J, Pathak H, Pectasides D, Perou CM, Peto J, Pharoah PD, Pooler LC, Press MF, Pylkäs K, Rebbeck TR, Rodriguez-Gil JL, Rosenberg L, Ross E, Rüdiger T, Silva ID, Sawyer E, Schmidt MK, Schulz-Wendtland R, Schumacher F, Severi G, Sheng X, Signorello LB, Sinn HP, Stevens KN, Southey MC, Tapper WJ, Tomlinson I, Hogervorst FB, Wauters E, Weaver J, Wildiers H, Winqvist R, Berg DV, Wan P, Xia LY, Yannoukakos D, Zheng W, Ziegler RG, Siddiq A, Slager SL, Stram DO, Easton D, Kraft P, Henderson BE, Couch FJ: (2011) A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet. 2011;43(12): 1210-1214
  • Figueroa JD, Garcia-Closas M, Humphreys M, Platte R, Hopper JL, Southey MC, Apicella C, Hammet F, Schmidt MK, Broeks A, Tollenaar RA, Van't Veer LJ, Fasching PA, Beckmann MW, Ekici AB, Strick R, Peto J, Dos Santos Silva I, Fletcher O, Johnson N, Sawyer E, Tomlinson I, Kerin M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Bojesen S, Flyger H, Nordestgaard BG, Benitez J, Milne RL, Ignacio Arias J, Zamora MP, Brenner H, Muller H, Arndt V, Rahman N, Turnbull C, Seal S, Renwick A, Brauch H, Justenhoven C, Bruning T, GENICA Network , Chang-Claude J, Hein R, Wang-Gohrke S, Dörk T, Schürmann P, Bremer M, Hillemanns P, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Bogdanova N, Antonenkova N, Rogov YI, Karstens JH, Bermisheva M, Prokofieva D, Gantcev SH, Khusnutdinova E, Lindblom A, Margolin S, Chenevix-Trench G, Beesley J, Chen X, kConFab AOCS Management Group , Mannermaa A, Kosma VM, Soini Y, Kataja V, Lambrechts D, Yesilyurt BT, Chrisiaens MR, Peeters S, Radice P, Peterlongo P, Manoukian S, Barile M, Couch F, Lee AM, Diasio R, Wang X, Giles GG, Severi G, Baglietto L, Maclean C, Offit K, Robson M, Joseph V, Gaudet M, John EM, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis I, Knight JA, Mulligan AM, O'Malley FP, Brinton LA, Sherman ME, Lissowska J, Chanock SJ, Hooning M, Martens JW, van den Ouweland AM, Collée JM, Hall P, Czene K, Cox A, Brock IW, Reed MW, Cross SS, Pharoah P, Dunning AM, Kang D, Yoo KY, Noh DY, Ahn SH, Jakubowska A, Lubinski J, Jaworska K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Shen CY, Ding SL, Hsu HM, Yu JC, Anton-Culver H, Ziogas A, Ashworth A, Swerdlow A, Jones M, Orr N, Trentham-Dietz A, Egan K, Newcomb P, Titus-Ernstoff L, Easton D, Spurdle AB: (2011) Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2011;20(23): 4693-706
  • Stevens KN, Garcia-Closas M, Fredericksen Z, Kosel M, Pankratz VS, Hopper JL, Dite GS, Apicella C, Southey MC, Schmidt MK, Broeks A, Van 't Veer LJ, Tollenaar RA, Fasching PA, Beckmann MW, Hein A, Ekici AB, Johnson N, Peto J, Dos Santos Silva I, Gibson L, Sawyer E, Tomlinson I, Kerin MJ, Chanock S, Lissowska J, Hunter DJ, Hoover RN, Thomas GD, Milne RL, Pérez JA, González-Neira A, Benitez J, Burwinkel B, Meindl A, Schmutzler RK, Bartrar CR, Hamann U, Ko YD, Bruning T, Chang-Claude J, Hein R, Wang-Gohrke S, Dörk T, Schürmann P, Bremer M, Hillemanns P, Bogdanova N, Zalutsky JV, Rogov YI, Antonenkova N, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen J, Chenevix-Trench G, Chen X, Peterlongo P, Bonanni B, Bernard L, Manoukian S, Wang X, Cerhan J, Vachon CM, Olson J, Giles GG, Baglietto L, McLean CA, Severi G, John EM, Miron A, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis I, Knight JA, Glendon G, Mulligan AM, Cox A, Brock IW, Elliott G, Cross SS, Pharoah PP, Dunning AM, Pooley KA, Humphreys MK, Wang J, Kang D, Yoo KY, Noh DY, Sangrajrang S, Gabrieau V, Brennan P, McKay J, Anton-Culver H, Ziogas A, Couch FJ, Easton DF, GENICA Network: (2011) Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk. Br J Cancer. 2011;105(12): 1934-9
  • Schanze D, Ekici AB, Gawlik M, Pfuhlmann B, Reis A, Stober G: (2011) Evaluation of risk loci for schizophrenia derived from genome-wide association studies in a German population. Am J Med Genet B Neuropsychiatr Genet. 2011;156(2): 198-203
  • Giardina E, Hüffmeier U, Ravindran J, Behrens F, Lepre T, McHugh NJ, Korendowych E, Burkhardt H, Novelli G, Reis A: (2011) Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus. Arthritis Rheum. 2011;63(12): 3801-6
  • Brockschmidt FF, Heilmann S, Ellis JA, Eigelshoven S, Hanneken S, Herold C, Moebus S, Alblas MA, Lippke B, Kluck N, Priebe L, Degenhardt FA, Jamra RA, Meesters C, Jöckel KH, Erbel R, Harrap S, Schumacher J, Fröhlich H, Kruse R, Hillmer AM, Becker T, Nöthen MM: (2011) Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness. Br J Dermatol. 2011;165(6): 1293-302