Kliniken & Institute … Institute Humangenetik Forschung Publikationen 2012

Publikationen 2012

Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Lee A, Barrowdale D, Healey S, Sinilnikova OM, Caligo MA, Loman N, Harbst K, Lindblom A, Arver B, Rosenquist R, Karlsson P, Nathanson K, Domchek S, Rebbeck T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowowcka-Perlowska E, Osorio A, Duran M, Andres R, Benitez J, Hamann U, Hogervorst FB, van Os TA, Verhoef S, Meijers-Heijboer HE, Wijnen J, Gomez Garcia EB, Ligtenberg MJ, Kriege M, Collee JM, Ausems MG, Oosterwijk JC, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Rogers MT, Donaldson A, Dorkins H, Godwin AK, Bove B, Stoppa-Lyonnet D, Houdayer C, Buecher B, de Pauw A, Mazoyer S, Calender A, Leone M, Bressac-de Paillerets B, Caron O, Sobol H, Frenay M, Prieur F, Ferrer SU, Mortemousque I, Buys S, Daly M, Miron A, Terry MU, Hopper JL, John EM, Southey M, Goldgar D, Singer CF, Fink-Retter A, Tea MK, Kaulich DU, Hansen TV, Nielsen FC, Barkardottir RB, Gaudet M, Kirchhoff T, Joseph V, Dutra-Clarke A, Offit K, Piedmonte M, Kirk J, Cohn D, Hurteau J, Byron J, Fiorica J, Toland AE, Montagna M, Oliani C, Imyanitov E, Isaacs C, Tihomirova L, Blanco I, Lazaro C, Teule A, Valle JD, Gayther SA, Odunsi K, Gross J, Karlan BY, Olah E, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EU, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schafer D, Caldes T, de la Hoya M, Nevanlinna H, Muranen TA, Lesperance B, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Loud JT, Andrulis IL, Ozcelik H, Mulligan AU, Glendon G, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Chenevix-Trench G, Couch FJ, Simard J, Easton DF, 2012. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res 14(1):R33.

Bacon C, Endris V, Rappold GA, 2012. The cellular function of srGAP3 and its role in neuronal morphogenesis. Mech Dev Nov 2.

Bacon C, Rappold GA, 2012. The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders. Hum Genet 131(11):1687-98.

Bartram CR, Schrauder A, Kohler R, Schrappe M, 2012. Acute Lymphoblastic Leukemia in Children: Treatment Planning via Minimal Residual Disease Assessment. Dtsch Arztebl Int 109(40):652-8.

Becker-Grunig T, Klose H, Ehlken N, Lichtblau M, Nagel C, Fischer C, Gorenflo M, Tiede H, Schranz D, Hager A, Kaemmerer H, Miera O, Ulrich S, Speich R, Uiker S, Grunig E, 2012. Efficacy of exercise training in pulmonary arterial hypertension associated with congenital heart disease. Int J Cardiol.

Becker N, Byl A, Friedrich S, Jauch A, Schnitzler P, Egerer G, Ho AD, Goldschmidt H, Neben K, 2012. Hepatitis B virus infection is associated with deletion of chromosome 8p in Multiple Myeloma. Eur J Haematol.

Behnecke A, Dikow N, Moog U, 2012a. How fingers and face can be the clue? Eur J Neurol 19(3):e27-8.

Behnecke A, Hinderhofer K, Jauch A, Janssen J, Moog U, 2012b. Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13). Clin Genet 82(5):494-8.

Berkel S, Tang W, Trevino M, Vogt M, Obenhaus HA, Gass P, Scherer SW, Sprengel R, Schratt G, Rappold GA, 2012. Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. Hum Mol Genet 21(2):344-57.

Beyer T, Danilchik M, Thumberger T, Vick P, Tisler M, Schneider I, Bogusch S, Andre P, Ulmer B, Walentek P, Niesler B, Blum M, Schweickert A, 2012. Serotonin signaling is required for Wnt-dependent GRP specification and leftward flow in Xenopus. Curr Biol 22(1):33-9.

Brackmann F, Dörr H-G, Bartram CR, Hinderhofer K, Holter W, Langer T, 2012. Glucocorticoid Withdrawal - Heterozygous Carriers of Congenital Adrenal Hyperplasia at Risk? Klin Padiatr 224(06):392-393.

Connemann BJ, Gahr M, Schmid M, Runz H, Freudenmann RW, 2012. Low ceruloplasmin in a patient with Niemann-Pick type C disease. J Clin Neurosci 19(4):620-621.

Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Gorski B, Osorio A, Duran M, Tejada MI, Benitez J, Hamann U, Hogervorst FB, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE, Bove B, Godwin AK, Stoppa-Lyonnet D, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Leone M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G, Offit K, Simard J, 2012. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 21(4):645-57.

Dani MA, von Cube M, Freire IL, Suguisawa L, Fischer C, Dani SU, 2012. Synergistic and theshold effects of GH1 and GHr promotor size variation on body groth and fat accruel in young Nelore (Bos indicus) bulls. Genetic and Molecular Research 11(2):1783-1798.

Dick MG, Versmold B, Engel C, Meindl A, Arnold N, Varon-Mateeva R, Sutter C, Niederacher D, Deissler H, Preisler-Adams S, Kast K, Schafer D, Gadzicki D, Heinritz W, Wappenschmidt B, Schmutzler RK, 2012. Association of death receptor 4 variant (683A > C) with ovarian cancer risk in BRCA1 mutation carriers. Int J Cancer 130(6):1314-8.

Ding YC, McGuffog L, Healey S, Friedman E, Laitman Y, Paluch-Shimon S, Kaufman B, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Gronwald J, Huzarski T, Cybulski C, Byrski T, Osorio A, Cajal TR, Stavropoulou AV, Benitez J, Hamann U, Rookus M, Aalfs CM, de Lange JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Gomez Garcia EB, Hoogerbrugge N, Jager A, van der Luijt RB, Easton DF, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Godwin AK, Pathak H, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Barjhoux L, Leone M, Gauthier-Villars M, Caux-Moncoutier V, de Pauw A, Hardouin A, Berthet P, Dreyfus H, Ferrer SF, Collonge-Rame MA, Sokolowska J, Buys S, Daly M, Miron A, Terry MB, Chung W, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Hansen TV, Ejlertsen B, Johannsson OT, Offit K, Sarrel K, Gaudet MM, Vijai J, Robson M, Piedmonte MR, Andrews L, Cohn D, DeMars LR, DiSilvestro P, Rodriguez G, Toland AE, Montagna M, Agata S, Imyanitov E, Isaacs C, Janavicius R, Lazaro C, Blanco I, Ramus SJ, Sucheston L, Karlan BY, Gross J, Ganz PA, Beattie MS, Schmutzler RK, Wappenschmidt B, Meindl A, Arnold N, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Nevanlinna H, Aittomaki K, Simard J, Spurdle AB, Beesley J, Chen X, Tomlinson GE, Weitzel J, Garber JE, Olopade OI, Rubinstein WS, Tung N, Blum JL, Narod SA, Brummel S, Gillen DL, Lindor N, Fredericksen Z, Pankratz VS, Couch FJ, Radice P, Peterlongo P, Greene MH, Loud JT, Mai PL, Andrulis IL, Glendon G, Ozcelik H, Gerdes AM, Thomassen M, Jensen UB, Skytte AB, Caligo MA, Lee A, Chenevix-Trench G, Antoniou AC, Neuhausen SL, 2012. A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 21(8):1362-70.

Dorge P, Meissner B, Zimmermann M, Moericke A, Schrauder A, Bourquin JP, Schewe D, Harbott J, Teigler-Schlegel A, Ratei R, Ludwig WD, Kohler R, Bartram CR, Schrappe M, Stanulla M, Cario G, 2012. IKZF1 deletion is an independent predictor of outcome in pediatric acute lymphoblastic leukemia treated according to the ALL-BFM 2000 protocol. Haematologica.

Durand C, Decker E, Roeth R, Schneider KU, Rappold G, 2012. The Homeobox Transcription Factor HOXA9 Is a Regulator of SHOX in U2OS Cells and Chicken Micromass Cultures. PLoS One 7(9):e45369.

Durand C, Rappold GA, 2012. Height matters - from monogenic to common disease. Nature Rev. Endocrinol. In press.

Eissmann M, Melzer IM, Fernandez SB, Michel G, Hrabe de Angelis M, Hoefler G, Finkenwirth P, Jauch A, Schoell B, Grez M, Schmidt M, Bartholomae CC, Newrzela S, Haetscher N, Rieger MA, Zachskorn C, Mittelbronn M, Zornig M, 2012. Overexpression of the anti-apoptotic protein AVEN contributes to increased malignancy in hematopoietic neoplasms. Oncogene.

Ellinghaus D, Folseraas T, Holm K, Ellinghaus E, Melum E, Balschun T, Laerdahl JK, Shiryaev A, Gotthardt DN, Weismuller TJ, Schramm C, Wittig M, Bergquist A, Bjornsson E, Marschall HU, Vatn M, Teufel A, Rust C, Gieger C, Wichmann HE, Runz H, Sterneck M, Rupp C, Braun F, Weersma RK, Wijmenga C, Ponsioen CY, Mathew CG, Rutgeerts P, Vermeire S, Schrumpf E, Hov JR, Manns MP, Boberg KM, Schreiber S, Franke A, Karlsen TH, 2012. Genome-wide association analysis in sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4. Hepatology.

Evers C, Gaspar H, Kloor M, Bozukova G, Kadmon M, Keller M, Sutter C, Moog U, 2012a. Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence? Fam Cancer 11(3):529-533.

Evers C, Janssen JW, Jauch A, Bonin M, Moog U, 2012b. A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. Am J Med Genet A 158A(3):680-4.

Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke T, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schafer D, Stock F, Voigtlander T, 2012. BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families. Clin Genet 82(5):478-483.

Folseraas T, Melum E, Rausch P, Juran BD, Ellinghaus E, Shiryaev A, Laerdahl JK, Ellinghaus D, Schramm C, Weismuller TJ, Gotthardt DN, Hov JR, Clausen OP, Weersma RK, Janse M, Boberg KM, Bjornsson E, Marschall HU, Cleynen I, Rosenstiel P, Holm K, Teufel A, Rust C, Gieger C, Wichmann HE, Bergquist A, Ryu E, Ponsioen CY, Runz H, Sterneck M, Vermeire S, Beuers U, Wijmenga C, Schrumpf E, Manns MP, Lazaridis KN, Schreiber S, Baines JF, Franke A, Karlsen TH, 2012. Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci. J Hepatol 57:366-375.

Gokbuget N, Kneba M, Raff T, Trautmann H, Bartram CR, Arnold R, Fietkau R, Freund M, Ganser A, Ludwig WD, Maschmeyer G, Rieder H, Schwartz S, Serve H, Thiel E, Bruggemann M, Hoelzer D, 2012. Adult patients with acute lymphoblastic leukemia and molecular failure display a poor prognosis and are candidates for stem cell transplantation and targeted therapies. Blood 120(9):1868-76.

Gottschling S, Jauch A, Kuner R, Herpel E, Mueller-Decker K, Schnabel PA, Xu EC, Muley T, Sultmann H, Bender C, Granzow M, Efferth T, Hoffmann H, Dienemann H, Herth FJ, Meister M, 2012. Establishment and comparative characterization of novel squamous cell non-small cell lung cancer cell lines and their corresponding tumor tissue. Lung Cancer 75(1):45-57.

Grunig E, Lichtblau M, Ehlken N, Ghofrani HA, Reichenberger F, Staehler G, Halank M, Fischer C, Seyfarth HJ, Klose H, Meyer A, Sorichter S, Wilkens H, Rosenkranz S, Opitz C, Leuchte H, Karger G, Speich R, Nagel C, 2012. Safety and efficacy of exercise training in various forms of pulmonary hypertension. Eur Respir J 40(1):84-92.

Grunig E, Maier F, Ehlken N, Fischer C, Lichtblau M, Blank N, Fiehn C, Stockl F, Prange F, Staehler G, Reichenberger F, Tiede H, Halank M, Seyfarth HJ, Wagner S, Nagel C, 2012. Exercise training in pulmonary arterial hypertension associated with connective tissue diseases. Arthritis Res Ther 14(3):R148.

Haemmerling S, Behnisch W, Doerks T, Korbel JO, Bork P, Moog U, Hentze S, Grasshoff U, Bonin M, Riess O, Janssen JW, Jauch A, Bartram CR, Reinhardt D, Koch KA, Bandapalli OR, Kulozik AE, 2012. A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL. Br J Haematol 157(2):180-7.

Hammer C, Cichon S, Muhleisen TW, Haenisch B, Degenhardt F, Mattheisen M, Breuer R, Witt SH, Strohmaier J, Oruc L, Rivas F, Babadjanova G, Grigoroiu-Serbanescu M, Hauser J, Roth R, Rappold G, Rietschel M, Nothen MM, Niesler B, 2012. Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: a European multicenter study. Transl Psychiatry 2:e103.

Heidemann S, Fischer C, Engel C, Fischer B, Harder L, Schlegelberger B, Niederacher D, Goecke TO, Doelken SC, Dikow N, Jonat W, Morlot S, Schmutzler RC, Arnold NK, 2012. Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management. Breast Cancer Res Treat 134(3):1229-39.

Hein R, Maranian M, Hopper JL, Kapuscinski MK, Southey MC, Park DJ, Schmidt MK, Broeks A, Hogervorst FB, Bueno-de-Mesquit HB, Muir KR, Lophatananon A, Rattanamongkongul S, Puttawibul P, Fasching PA, Hein A, Ekici AB, Beckmann MW, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Sawyer E, Tomlinson I, Kerin M, Miller N, Marmee F, Schneeweiss A, Sohn C, Burwinkel B, Guenel P, Cordina-Duverger E, Menegaux F, Truong T, Bojesen SE, Nordestgaard BG, Flyger H, Milne RL, Perez JI, Zamora MP, Benitez J, Anton-Culver H, Ziogas A, Bernstein L, Clarke CA, Brenner H, Muller H, Arndt V, Stegmaier C, Rahman N, Seal S, Turnbull C, Renwick A, Meindl A, Schott S, Bartram CR, Schmutzler RK, Brauch H, Hamann U, Ko YD, Wang-Gohrke S, Dork T, Schurmann P, Karstens JH, Hillemanns P, Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, Bogdanova NV, Zalutsky IV, Antonenkova NN, Bermisheva M, Prokovieva D, Farahtdinova A, Khusnutdinova E, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen J, Chen X, Beesley J, Lambrechts D, Zhao H, Neven P, Wildiers H, Nickels S, Flesch-Janys D, Radice P, Peterlongo P, Manoukian S, Barile M, Couch FJ, Olson JE, Wang X, Fredericksen Z, Giles GG, Baglietto L, McLean CA, Severi G, Offit K, Robson M, Gaudet MM, Vijai J, Alnaes GG, Kristensen V, Borresen-Dale AL, John EM, Miron A, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Figueroa JD, Garcia-Closas M, Lissowska J, Sherman ME, Hooning M, Martens JW, Seynaeve C, Collee M, Hall P, Humpreys K, Czene K, Liu J, Cox A, Brock IW, Cross SS, Reed MW, Ahmed S, Ghoussaini M, Pharoah PD, Kang D, Yoo KY, Noh DY, Jakubowska A, Jaworska K, Durda K, Zlowocka E, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Shen CY, Yu JC, Hsu HM, Hou MF, Orr N, Schoemaker M, Ashworth A, Swerdlow A, Trentham-Dietz A, Newcomb PA, Titus L, Egan KM, Chenevix-Trench G, Antoniou AC, Humphreys MK, Morrison J, Chang-Claude J, Easton DF, Dunning AM, 2012. Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC). PLoS One 7(8):e42380.

Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gokce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E, 2012. A cross-sectional single-centre study on Pompe disease in 42 German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis 7(1):35-49.

Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Gohring I, Zink AM, Rappold G, Schrock E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A, 2012. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet 90(3):565-72.

Jaklin C, Heiliger K, Hempel M, Sollacher D, Cohen M, Makowski CC, Meitinger T, Jauch A, Oexle K, 2012. Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy. Eur J Med Genet 55(10):568-72.

Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott RJ, McGuffog L, Healy S, Sinilnikova OM, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Paligo M, Aretini P, Kantala J, Aroer B, von Wachenfeldt A, Liljegren A, Loman N, Herbst K, Kristoffersson U, Rosenquist R, Karlsson P, Stenmark-Askmalm M, Melin B, Nathanson KL, Domchek SM, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Serrano P, Osorio A, Cajal TR, Tsitlaidou M, Benitez J, Gilbert M, Rookus M, Aalfs CM, Kluijt I, Boessenkool-Pape JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Blok MJ, Nelen MR, van den Ouweland AM, Seynaeve C, van der Luijt RB, Devilee P, Easton DF, Peock S, Frost D, Platte R, Ellis SD, Fineberg E, Evans DG, Lalloo F, Eeles R, Jacobs C, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Godwin A, Bove B, Stoppa-Lyonnet D, Caux-Moncoutier V, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Boutry-Kryza N, Pujol P, Coupier I, Peyrat JP, Vennin P, Muller D, Fricker JP, Venat-Bouvet L, Johannsson OT, Isaacs C, Schmutzler R, Wappenschmidt B, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Preisler-Adams S, Simard J, Soucy P, Durocher F, Chenevix-Trench G, Beesley J, Chen X, Rebbeck T, Couch F, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Bonanni B, Fortuzzi S, Peissel B, Szabo C, Mai PL, Loud JT, Lubinski J, 2012. Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. Br J Cancer 106(12):2016-24.

Kalb S, Caglayan AO, Degerliyurt A, Schmid S, Ceylaner S, Hatipoglu N, Hinderhofer K, Rehder H, Kurtoglu S, Ceylaner G, Zschocke J, Witsch-Baumgartner M, 2012. High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. Clin Genet 81(6):598-601.

Kassambara A, Hose D, Moreaux J, Walker BA, Protopopov A, Reme T, Pellestor F, Pantesco V, Jauch A, Morgan G, Goldschmidt H, Klein B, 2012. Genes with a spike expression are clustered in chromosome (sub)bands and spike (sub)bands have a powerful prognostic value in patients with multiple myeloma. Haematologica 97(4):622-30.

Kietzmann A, Wang Y, Weber D, Steinbeisser H, 2012. Xenopus paraxial protocadherin inhibits Wnt/beta-catenin signalling via casein kinase 2beta. EMBO Rep 13(2):129-34.

Kleffmann W, Zink AM, Lee JA, Senderek J, Mangold E, Moog U, Rappold GA, Wohlleber E, Engels H, 2012. 5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability. Mol Syndromol (3):68–75.

Kraft B, Berger CD, Wallkamm V, Steinbeisser H, Wedlich D, 2012. Wnt-11 and Fz7 reduce cell adhesion in convergent extension by sequestration of PAPC and C-cadherin. J Cell Biol 198(4):695-709.

Lambrechts D, Truong T, Justenhoven C, Humphreys MK, Wang J, Hopper JL, Dite GS, Apicella C, Southey MC, Schmidt MK, Broeks A, Cornelissen S, van Hien R, Sawyer E, Tomlinson I, Kerin M, Miller N, Milne RL, Zamora MP, Perez JI, Benitez J, Hamann U, Ko YD, Bruning T, Chang-Claude J, Eilber U, Hein R, Nickels S, Flesch-Janys D, Wang-Gohrke S, John EM, Miron A, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Chenevix-Trench G, Beesley J, Chen X, Menegaux F, Cordina-Duverger E, Shen CY, Yu JC, Wu PE, Hou MF, Andrulis IL, Selander T, Glendon G, Mulligan AM, Anton-Culver H, Ziogas A, Muir KR, Lophatananon A, Rattanamongkongul S, Puttawibul P, Jones M, Orr N, Ashworth A, Swerdlow A, Severi G, Baglietto L, Giles G, Southey M, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Yesilyurt BT, Neven P, Paridaens R, Wildiers H, Brenner H, Muller H, Arndt V, Stegmaier C, Meindl A, Schott S, Bartram CR, Schmutzler RK, Cox A, Brock IW, Elliott G, Cross SS, Fasching PA, Schulz-Wendtland R, Ekici AB, Beckmann MW, Fletcher O, Johnson N, Silva Idos S, Peto J, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Dork T, Schurmann P, Bremer M, Hillemanns P, Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Khusnutdinova E, Bermisheva M, Prokofieva D, Gancev S, Jakubowska A, Lubinski J, Jaworska K, Durda K, Nordestgaard BG, Bojesen SE, Lanng C, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Radice P, Peterlongo P, Manoukian S, Bernard L, Couch FJ, Olson JE, Wang X, Fredericksen Z, Alnaes GG, Kristensen V, Borresen-Dale AL, Devilee P, Tollenaar RA, Seynaeve CM, Hooning MJ, Garcia-Closas M, Chanock SJ, Lissowska J, Sherman ME, Hall P, Liu J, Czene K, Kang D, Yoo KY, Noh DY, Lindblom A, Margolin S, Dunning AM, Pharoah PD, Easton DF, Guenel P, Brauch H, 2012. 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Hum Mutat 33(7):1123-32.

Leijten JC, Emons J, Sticht C, van Gool S, Decker E, Uitterlinden A, Rappold G, Hofman A, Rivadeneira F, Scherjon S, Wit JM, van Meurs J, van Blitterswijk CA, Karperien M, 2012. Gremlin 1, frizzled-related protein, and Dkk-1 are key regulators of human articular cartilage homeostasis. Arthritis Rheum 64(10):3302-12.

Ley S, Fink C, Risse F, Ehlken N, Fischer C, Ley-Zaporozhan J, Kauczor HU, Klose H, Gruenig E, 2012. Magnetic resonance imaging to assess the effect of exercise training on pulmonary perfusion and blood flow in patients with pulmonary hypertension. Eur Radiol.

Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, Mulligan AM, Couch FJ, Engel C, McGuffog L, Healey S, Sinilnikova OM, Southey MC, Terry MB, Goldgar D, O'Malley F, John EM, Janavicius R, Tihomirova L, Hansen TV, Nielsen FC, Osorio A, Stavropoulou A, Benitez J, Manoukian S, Peissel B, Barile M, Volorio S, Pasini B, Dolcetti R, Putignano AL, Ottini L, Radice P, Hamann U, Rashid MU, Hogervorst FB, Kriege M, van der Luijt RB, Peock S, Frost D, Evans DG, Brewer C, Walker L, Rogers MT, Side LE, Houghton C, Weaver J, Godwin AK, Schmutzler RK, Wappenschmidt B, Meindl A, Kast K, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Varon-Mateeva R, Schonbuchner I, Gevensleben H, Stoppa-Lyonnet D, Belotti M, Barjhoux L, Isaacs C, Peshkin BN, Caldes T, de la Hoya M, Canadas C, Heikkinen T, Heikkila P, Aittomaki K, Blanco I, Lazaro C, Brunet J, Agnarsson BA, Arason A, Barkardottir RB, Dumont M, Simard J, Montagna M, Agata S, D'Andrea E, Yan M, Fox S, Rebbeck TR, Rubinstein W, Tung N, Garber JE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet MM, Singer CF, Tea MK, Rappaport C, Mai PL, Greene MH, Sokolenko A, Imyanitov E, Toland AE, Senter L, Sweet K, Thomassen M, Gerdes AM, Kruse T, Caligo M, Aretini P, Rantala J, von Wachenfeld A, Henriksson K, Steele L, Neuhausen SL, Nussbaum R, Beattie M, Odunsi K, Sucheston L, Gayther SA, Nathanson K, Gross J, Walsh C, Karlan B, Chenevix-Trench G, Easton DF, Antoniou AC, 2012. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 21(1):134-47.

Mengel E, Beck M, Das AM, Ebinger F, Koch S, Klünemann HH, Rohrbach M, Runz H, Rutsch F, Korenke GC, 2012. M. Niemann-Pick Typ C. MonatsschriftKinderheilkunde 160:47-54.

Moog U, Dikow N, Gaspar H, Behnecke A, Schenk JP, Flechtenmacher C, Beedgen B, Elsässer M, 2012. Humangenetische Diagnostik und Beratung: Seltene Erkrankungen in der Pränatalmedizin. Gynäkologe 45:376–382.

Nagel C, Prange F, Guth S, Herb J, Ehlken N, Fischer C, Reichenberger F, Rosenkranz S, Seyfarth HJ, Mayer E, Halank M, Grunig E, 2012. Exercise training improves exercise capacity and quality of life in patients with inoperable or residual chronic thromboembolic pulmonary hypertension. PLoS One 7(7):e41603.

Neben K, Lokhorst HM, Jauch A, Bertsch U, Hielscher T, van der Holt B, Salwender H, Blau IW, Weisel K, Pfreundschuh M, Scheid C, Duhrsen U, Lindemann W, Schmidt-Wolf IG, Peter N, Teschendorf C, Martin H, Haenel M, Derigs HG, Raab MS, Ho AD, van de Velde H, Hose D, Sonneveld P, Goldschmidt H, 2012. Administration of bortezomib before and after autologous stem cell transplantation improves outcome in multiple myeloma patients with deletion 17p. Blood 119(4):940-8.

Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shabeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF, 2012. Aspartylglucosaminuria: Unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish Family. J Child Neurol. online 26 December 2012, DOI: 10.1177/0883073812469049.

Rabe T, Reisch N, Bettendorf M, Hinderhofer K, Wildt L, Mattle V, Schüring A, Strowitzki T, Albring C, 2012. Das Adrenogenitale Syndrom bei der Frau. Gemeinsame Stellungnahme der Deutschen Gesellschaft für Gynäkologische Endokrinologie und Fortpflanzungsmedizin (DGGEF) e.V. und des Berufsverbandes der Frauenärzte (BVF) e.V. . Journal für Reproduktionsmedizin und Endokrinologie 9(3):201-224.

Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M, Gerdes AM, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Gronwald J, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Osorio A, Benitez J, Duran M, Tejada MI, Hamann U, Rookus M, van Leeuwen FE, Aalfs CM, Meijers-Heijboer HE, van Asperen CJ, van Roozendaal KE, Hoogerbrugge N, Collee JM, Kriege M, van der Luijt RB, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Pathak H, Godwin AK, Stoppa-Lyonnet D, Caux-Moncoutier V, de Pauw A, Gauthier-Villars M, Mazoyer S, Leone M, Calender A, Lasset C, Bonadona V, Hardouin A, Berthet P, Bignon YJ, Uhrhammer N, Faivre L, Loustalot C, Buys S, Daly M, Miron A, Terry MB, Chung WK, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Pfeiler G, Fink-Retter A, Hansen T, Ejlertsen B, Johannsson OT, Offit K, Kirchhoff T, Gaudet MM, Vijai J, Robson M, Piedmonte M, Phillips KA, Van Le L, Hoffman JS, Ewart Toland A, Montagna M, Tognazzo S, Imyanitov E, Issacs C, Janavicius R, Lazaro C, Blanco I, Tornero E, Navarro M, Moysich KB, Karlan BY, Gross J, Olah E, Vaszko T, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EJ, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schafer D, Caldes T, de la Hoya M, Nevanlinna H, Aittomaki K, Plante M, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H, Pharoah PD, Gayther SA, Simard J, Easton DF, Couch FJ, Chenevix-Trench G, 2012. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat 33(4):690-702.

Ran D, Schubert M, Taubert I, Eckstein V, Bellos F, Jauch A, Chen H, Bruckner T, Saffrich R, Wuchter P, Ho AD, 2012. Heterogeneity of leukemia stem cell candidates at diagnosis of acute myeloid leukemia and their clinical significance. Exp Hematol 40(2):155-65 e1.

Rappold GA, Durand C, Decker E, Marchini A, Schneider KU, 2012. New roles of SHOX as regulator of target genes. Pediatr Endocrinol Rev 9 Suppl 2:733-8.

Rath MG, Fathali-Zadeh F, Langheinz A, Tchatchou S, Voigtlander T, Heil J, Golatta M, Schott S, Drasseck T, Behnecke A, Burgemeister AL, Evers C, Bugert P, Junkermann H, Schneeweiss A, Bartram CR, Sohn C, Sutter C, Burwinkel B, 2012. Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene. Breast Cancer Res Treat 133(2):725-34.

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM, 2012. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380(9854):1674-82.

Romero P, Niesler B, Schmitz-Winnenthal H, Fitze G, Holland-Cunz S, 2012. Is there a link between the calcium sensing receptor and Hirschsprung's disease? A mutational analysis. J Pediatr Surg 47(3):551-5.

Runz H, 2012. Integrated approaches to functionally characterize novel factors in lipoprotein metabolism. Curr Opin Lipidol 23(2):104-10.

Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, Leboyer M, Rastam M, Gillberg C, Lathrop M, Stavropoulos DJ, Anagnostou E, Weksberg R, Fombonne E, Zwaigenbaum L, Fernandez BA, Roberts W, Rappold GA, Marshall CR, Bourgeron T, Szatmari P, Scherer SW, 2012. SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet 90(5):879-87.

Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tonz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschutter A, Trajanoski Z, Zschocke J, 2012. Mutations in ROGDI Cause Kohlschutter-Tonz Syndrome. Am J Hum Genet 90(4):701-707.

Seckinger A, Meissner T, Moreaux J, Depeweg D, Hillengass J, Hose K, Reme T, Rosen-Wolff A, Jauch A, Schnettler R, Ewerbeck V, Goldschmidt H, Klein B, Hose D, 2012. Clinical and prognostic role of annexin A2 in multiple myeloma. Blood 120(5):1087-94.

Sonneveld P, Schmidt-Wolf IG, van der Holt B, El Jarari L, Bertsch U, Salwender H, Zweegman S, Vellenga E, Broyl A, Blau IW, Weisel KC, Wittebol S, Bos GM, Stevens-Kroef M, Scheid C, Pfreundschuh M, Hose D, Jauch A, van der Velde H, Raymakers R, Schaafsma MR, Kersten MJ, van Marwijk-Kooy M, Duehrsen U, Lindemann W, Wijermans PW, Lokhorst HM, Goldschmidt HM, 2012. Bortezomib induction and maintenance treatment in patients with newly diagnosed multiple myeloma: results of the randomized phase III HOVON-65/ GMMG-HD4 trial. J Clin Oncol 30(24):2946-55.

Speak AO, Platt N, Salio M, te Vruchte D, Smith DA, Shepherd D, Veerapen N, Besra GS, Yanjanin NM, Simmons L, Imrie J, Wraith JE, Lachmann RH, Hartung R, Runz H, Mengel E, Beck M, Hendriksz CJ, Porter FD, Cerundolo V, Platt FM, 2012. Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C. Eur J Immunol 42(7):1886-92.

Spengler S, Begemann M, Ortiz Bruchle N, Baudis M, Denecke B, Kroisel PM, Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C, Blumel P, Jauch A, Moog U, Zerres K, Eggermann T, 2012. Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features. J Pediatr 161(5):933-942.

Stevens KN, Fredericksen Z, Vachon CM, Wang X, Margolin S, Lindblom A, Nevanlinna H, Greco D, Aittomaki K, Blomqvist C, Chang-Claude J, Vrieling A, Flesch-Janys D, Sinn HP, Wang-Gohrke S, Nickels S, Brauch H, Ko YD, Fischer HP, Schmutzler RK, Meindl A, Bartram CR, Schott S, Engel C, Godwin AK, Weaver J, Pathak HB, Sharma P, Brenner H, Muller H, Arndt V, Stegmaier C, Miron P, Yannoukakos D, Stavropoulou A, Fountzilas G, Gogas HJ, Swann R, Dwek M, Perkins A, Milne RL, Benitez J, Zamora MP, Perez JI, Bojesen SE, Nielsen SF, Nordestgaard BG, Flyger H, Guenel P, Truong T, Menegaux F, Cordina-Duverger E, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Sawyer E, Tomlinson I, Kerin MJ, Peto J, Johnson N, Fletcher O, Dos Santos Silva I, Fasching PA, Beckmann MW, Hartmann A, Ekici AB, Lophatananon A, Muir K, Puttawibul P, Wiangnon S, Schmidt MK, Broeks A, Braaf LM, Rosenberg EH, Hopper JL, Apicella C, Park DJ, Southey MC, Swerdlow AJ, Ashworth A, Orr N, Schoemaker MJ, Anton-Culver H, Ziogas A, Bernstein L, Dur CC, Shen CY, Yu JC, Hsu HM, Hsiung CN, Hamann U, Dunnebier T, Rudiger T, Ulmer HU, Pharoah PP, Dunning AM, Humphreys MK, Wang Q, Cox A, Cross SS, Reed MW, Hall P, Czene K, Ambrosone CB, Ademuyiwa F, Hwang H, Eccles DM, Garcia-Closas M, Figueroa JD, Sherman ME, Lissowska J, Devilee P, Seynaeve C, Tollenaar RA, Hooning MJ, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, John EM, Miron A, Alnaes GG, Kristensen V, Borresen-Dale AL, Giles GG, Baglietto L, McLean CA, Severi G, Kosel ML, Pankratz VS, Slager S, Olson JE, Radice P, Peterlongo P, Manoukian S, Barile M, Lambrechts D, Hatse S, Dieudonne AS, Christiaens MR, Chenevix-Trench G, Beesley J, Chen X, Mannermaa A, Kosma VM, Hartikainen JM, Soini Y, Easton DF, Couch FJ, 2012. 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res 72(7):1795-803.

van Gool SA, Emons JA, Leijten JC, Decker E, Sticht C, van Houwelingen JC, Goeman JJ, Kleijburg C, Scherjon SA, Gretz N, Wit JM, Rappold G, Post JN, Karperien M, 2012. Fetal Mesenchymal Stromal Cells Differentiating towards Chondrocytes Acquire a Gene Expression Profile Resembling Human Growth Plate Cartilage. PLoS One 7(11):e44561.

Waltereit R, Leimer U, von Bohlen Und Halbach O, Panke J, Holter SM, Garrett L, Wittig K, Schneider M, Schmitt C, Calzada-Wack J, Neff F, Becker L, Prehn C, Kutscherjawy S, Endris V, Bacon C, Fuchs H, Gailus-Durner V, Berger S, Schonig K, Adamski J, Klopstock T, Esposito I, Wurst W, de Angelis MH, Rappold G, Wieland T, Bartsch D, 2012. Srgap3-/- mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypes. FASEB J 26(11):4418-28.

Warren H, Dudbridge F, Fletcher O, Orr N, Johnson N, Hopper JL, Apicella C, Southey MC, Mahmoodi M, Schmidt MK, Broeks A, Cornelissen S, Braaf LM, Muir KR, Lophatananon A, Chaiwerawattana A, Wiangnon S, Fasching PA, Beckmann MW, Ekici AB, Schulz-Wendtland R, Sawyer EJ, Tomlinson I, Kerin M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Guenel P, Truong T, Laurent-Puig P, Mulot C, Bojesen SE, Nielsen SF, Flyger H, Nordestgaard BG, Milne RL, Benitez J, Arias-Perez JI, Zamora MP, Anton-Culver H, Ziogas A, Bernstein L, Dur CC, Brenner H, Muller H, Arndt V, Langheinz A, Meindl A, Golatta M, Bartram CR, Schmutzler RK, Brauch H, Justenhoven C, Bruning T, Chang-Claude J, Wang-Gohrke S, Eilber U, Dork T, Schurmann P, Bremer M, Hillemanns P, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Bogdanova N, Antonenkova N, Rogov Y, Bermisheva M, Prokofyeva D, Zinnatullina G, Khusnutdinova E, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Hartikainen JM, Kataja V, Chenevix-Trench G, Beesley J, Chen X, Lambrechts D, Smeets A, Paridaens R, Weltens C, Flesch-Janys D, Buck K, Behrens S, Peterlongo P, Bernard L, Manoukian S, Radice P, Couch FJ, Vachon C, Wang X, Olson J, Giles G, Baglietto L, McLean CA, Severi G, John EM, Miron A, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Mulligan AM, Weerasooriya N, Devilee P, Tollenaar RA, Martens JW, Seynaeve CM, Hooning MJ, Hollestelle A, Jager A, Tilanus-Linthorst MM, Hall P, Czene K, Liu J, Li J, Cox A, Cross SS, Brock IW, Reed MW, Pharoah P, Blows FM, Dunning AM, Ghoussaini M, Ashworth A, Swerdlow A, Jones M, Schoemaker M, Easton DF, Humphreys M, Wang Q, Peto J, Dos-Santos-Silva I, 2012. 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev 21(10):1783-1791.

Zeidler L, Zimmermann M, Moricke A, Meissner B, Bartels D, Tschan C, Schrauder A, Cario G, Goudeva L, Jager S, Ratei R, Ludwig WD, Teigler-Schlegel A, Skokowa J, Koehler R, Bartram CR, Riehm H, Schrappe M, Welte K, Stanulla M, 2012. Low platelet counts after induction therapy for childhood acute lymphoblastic leukemia are strongly associated with poor early response to treatment as measured by minimal residual disease and are prognostic for treatment outcome. Haematologica 97(3):402-9.