Genomic Profiling

Objectives

 

The major limitation for the use of genetically engineered cells in the clinic is the safety concern. Tumorigenicity from reprogrammed pluripotent stem and/or genome edited cells remains an unsolved concern for clinical application. It will be important to reliably identify intrachromosomal and interchromosomal genomic changes as well as epigenomic changes with high sensitivity to exclude the risk of oncogenesis, to guarantee safety of cell products and to ensure long-term beneficial effects for the patient.

Goals:

  • Investigate genomic integrity of advanced stem cell products, i.e. reprogrammed human and murine cells, by array-CGH 
  • Decipher conditions and factors associated with an increased genetic instability, particularly small genomic deletions and duplications 
  • Compare genetic instability of modified haematopoietic stem cells and iPS with that observed in human tumours to assign different risk categories to defined genomic changes 

Long term goals:

  • To understand the mechanisms driving reprogrammed cell differentiation and malignant transformation at the (epi-)genomic level
  • To precisely map genomic structural rearrangements in iPSC-products by high resolution array-CGH, genome mapping and whole exome sequencing
  • To identify cooperating epigenomic events driving uncontrolled cell proliferation (e.g. altered Histone acetylation and methylation at gene transcription enhancer or silencer sites) by chromatin immunoprecipitation followed by deep sequencing (ChIP-seq)
  • To assess the genomic integrity of patient-derived iPSC and to minimize tumorigenic risks of iPSC products for all Rebirth groups
Genomic profiles of chromosome 9 showing two cases with deletions of different size (pink bar/arrow), both targeting the tumor suppressor gene p16 (cyclin dependent kinase inhibitor 2 A)

Collaborations

  • PD. Dr. Tobias Cantz, REBIRTH Unit Translational Hepatology and Stem Cell Biology: Patient derived iPS cells and genomic integrity
  • Prof. Dr. Axel Schambach, Phd, REBIRTH Unit Regenerative Gene Therapy: Vector design and reprogramming 
  • Prof. Ulrich Martin/Dr. Robert Zweigerdt, REBIRTH Unit Mass Production of Pluripotent Stem Cells and Derivates, Lebao: Effects of culture condition on genomic integrity
  • Prof. Dr. Karl Welte/ Prof. Dr. Julia Skokowa, REBIRTH Unit New Regulatory Mechanisms of Meyelopoiesis: Leukemias developed in inherited bone marrow failure syndromes
  • PD Dr. Zhixiong Li Exp. Hämatologie, MHH: Reprogramming and leukemia induction
  • PD Dr. Dirk Wedekind, Zentrales Tierlabor, MHH: Cell replacement therapy using insulin-producing cells derived from rat pluripotent stem cells 
  • Prof. Dr. Ute Modlich, Paul Ehrlich Institute, Langen, Germany: vector integration and genomic integrity 
  • Prof. Zoltan Ivics, Paul Ehrlich Institute, Langen, Germany: Sleeping Beauty Transposon-based System for Cellular Reprogramming and Targeted Gene Insertion in Induced Pluripotent Stem Cells 
  • Prof. Dr. Heike Pahl, Uniklinikum Freiburg: Molekulare Genese der Leukämie-Entstehung in MPN-Patienten und in einem neuen murinen MPN-Modell 
  • PD Dr. Katharina Götze, TU München: Lentiviral transduction of human CD34+ cells with FLT3-ITD and development of leukemias in mice 
  • Dr. Jude Fitzgibbon, Barts Cancer Institute, CR-UK Centre of Excellence, London: Genetic basis of familial AML/MDS
  • Prof. Dr. Christoph Klein, Ludwig-Maximilians-University Munich, Germany: Efficacy of gene therapy for Wiskott Aldrich syndrome and risk of leukemogenesis 
  • Prof. Dr. Peter Nürnberg, University of Cologne, Germany: Next-Generation-Sequencing in Hereditary Breast and Ovarian Cancer families to identify new predisposing genes 

Publications

2013 - ongoing

2018

Heldt F, Wallaschek H, Ripperger T, Morlot S, Illig T, Eggermann T, Schlegelberger B, Scholz C, Steinemann D. 12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature. European Journal of Medical Genetics. 2018.

Stanulla M, Dagdan E, Zaliova M, Möricke A, Palmi C, Cazzaniga G, Eckert C, te Kronnie G, Bourquin J-P, Bornhauser B, Koehler R, Bartram CR, Ludwig W-D, Bleckmann K, Groeneveld-Krentz S, Schewe D, Junk SV, Hinze L, Klein N, Kratz CP, Biondi A, Borkhardt A, Kulozik A, Muckenthaler MU, Basso G, Valsecchi MG, Izraeli S, Petersen B-S, Franke A, Dörge P, Steinemann D, Haas OA, Panzer-Grümayer R, Cavé H, Houlston RS, Cario G, Schrappe M, Zimmermann M. IKZF1plus Defines a New Minimal Residual Disease–Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia. Journal of Clinical Oncology. 2018:JCO.2017.74.3617.

Scholz C, Golas MM, Weber RG, Hartmann C, Lehmann U, Sahm F, Schmidt G, Auber B, Sturm M, Schlegelberger B, Illig T, Steinemann D, Hofmann W. Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma. Clinical Genetics.n/a-n/a.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo S-H, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B, Embrace, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A, Collaborators GS, Gerdes A-M, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J, Hebon, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Vijai J, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim S-W, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee MH, Lester J, Lesueur F, Liljegren A, Lindor NM, Longy M, Loud JT, Lu KH, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Mickys U, Miller A, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Neuhausen SL, Nevanlinna H, Ngeow J, Nguyen HP, Niederacher D, Nielsen HR, Nielsen FC, Nussbaum RL, Offit K, Öfverholm A, Ong K-r, Osorio A, Papi L, Papp J, Pasini B, Pedersen IS, Msc AP, Msc NP, Peterlongo P, Pohl E, Ba NP, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus SJ, Rantala J, Rashid MU, Rhiem K, Robson M, Rodriguez GC, Rogers MT, Rudaitis V, Schmidt AY, Schmutzler RK, Senter L, Shah PD, Sharma P, Side LE, Simard J, Singer CF, Skytte A-B, Slavin TP, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo CI, Tan YY, Teixeira MR, Terry MB, Teulé A, Thomas A, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Topka S, Trainer AH, Tung N, van Asperen CJ, van der Hout AH, van der Kolk LE, van der Luijt RB, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Yoon S-Y, Zanzottera C, Zidan J, Zorn KK, Hutten Selkirk CG, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human Mutation.n/a-n/a.

Thomay K, Behrens YL, Lentes J, Wittner N, Wittig V, Rothe D, Steinemann D, Schlegelberger B, Göhring G. Octasomy 21 in a patient with secondary AML after CMML: the role of acquired NRAS mutations in triggering aneuploidy. Leukemia & Lymphoma. 2018:1-4.

Ripperger T, Hofmann W, Koch JC, Shirneshan K, Haase D, Wulf G, Issing PR, Karnebogen M, Schmidt G, Auber B, Schlegelberger B, Illig T, Zirn B, Steinemann D. MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies. Haematologica. 2018;103(2):e55-e8.

2017

Bahrami E, Witzel M, Racek T, Puchalka J, Hollizeck S, Greif-Kohistani N, Kotlarz D, Horny HP, Feederle R, Schmidt H, Sherkat R, Steinemann D, Gohring G, Schlegelbeger B, Albert MH, Al-Herz W, Klein C. Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations. J Allergy Clin Immunol. 2017;140(4):1112-9. Epub 2017/01/25.

Christgen M, Bartels S, van Luttikhuizen JL, Schieck M, Pertschy S, Kundu S, Lehmann U, Sander B, Pelz E, Länger F, Schlegelberger B, Steinemann D, Kreipe H. Subclonal analysis in a lobular breast cancer with classical and solid growth pattern mimicking a solid‐papillary carcinoma. The Journal of Pathology: Clinical Research. 2017;3(3):191-202.

Schubert S, Ripperger T, Rood M, Petkidis A, Hofmann W, Frye-Boukhriss H, Tauscher M, Auber B, Hille-Betz U, Illig T, Schlegelberger B, Steinemann D. GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families. Genes & Cancer. 2017;8(1-2):472-83.

Hoffmann D, Schott JW, Geis FK, Lange L, Muller FJ, Lenz D, Zychlinski D, Steinemann D, Morgan M, Moritz T, Schambach A. Detailed comparison of retroviral vectors and promoter configurations for stable and high transgene expression in human induced pluripotent stem cells. Gene Ther. 2017;24(5):298-307. Epub 2017/03/28.

Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J, McGuffog L, Soucy P, Leslie G, Rizzolo P, Navazio AS, Valentini V, Zelli V, Lee A, Amin Al Olama A, Tyrer JP, Southey M, John EM, Conner TA, Goldgar DE, Buys SS, Janavicius R, Steele L, Ding YC, Neuhausen SL, Hansen TVO, Osorio A, Weitzel JN, Toss A, Medici V, Cortesi L, Zanna I, Palli D, Radice P, Manoukian S, Peissel B, Azzollini J, Viel A, Cini G, Damante G, Tommasi S, Peterlongo P, Fostira F, Hamann U, Evans DG, Henderson A, Brewer C, Eccles D, Cook J, Ong K-r, Walker L, Side LE, Porteous ME, Davidson R, Hodgson S, Frost D, Adlard J, Izatt L, Eeles R, Ellis S, Tischkowitz M, Godwin AK, Meindl A, Gehrig A, Dworniczak B, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Hauke J, Rhiem K, Kast K, Arnold N, Ditsch N, Wang-Gohrke S, Wappenschmidt B, Wand D, Lasset C, Stoppa-Lyonnet D, Belotti M, Damiola F, Barjhoux L, Mazoyer S, Van Heetvelde M, Poppe B, De Leeneer K, Claes KBM, de la Hoya M, Garcia-Barberan V, Caldes T, Perez Segura P, Kiiski JI, Aittomäki K, Khan S, Nevanlinna H, van Asperen CJ, Vaszko T, Kasler M, Olah E, Balmaña J, Gutiérrez-Enríquez S, Diez O, Teulé A, Izquierdo A, Darder E, Brunet J, Del Valle J, Feliubadalo L, Pujana MA, Lazaro C, Arason A, Agnarsson BA, Johannsson OT, Barkardottir RB, Alducci E, Tognazzo S, Montagna M, Teixeira MR, Pinto P, Spurdle AB, Holland H, Lee JW, Lee MH, Lee J, Kim S-W, Kang E, Kim Z, Sharma P, Rebbeck TR, Vijai J, Robson M, Lincoln A, Musinsky J, Gaddam P, Tan YY, Berger A, Singer CF, Loud JT, Greene MH, Mulligan AM, Glendon G, Andrulis IL, Toland AE, Senter L, Bojesen A, Nielsen HR, Skytte A-B, Sunde L, Jensen UB, Pedersen IS, Krogh L, Kruse TA, Caligo MA, Yoon S-Y, Teo S-H, von Wachenfeldt A, Huo D, Nielsen SM, Olopade OI, Nathanson KL, Domchek SM, Lorenchick C, Jankowitz RC, Campbell I, James P, Mitchell G, Orr N, Park SK, Thomassen M, Offit K, Couch FJ, Simard J, Easton DF, Chenevix-Trench G, Schmutzler RK, Antoniou AC, Ottini L. Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. Journal of Clinical Oncology. 2017;35(20):2240-50.

Hoffmann D, Schott JW, Geis FK, Lange L, Müller FJ, Lenz D, Zychlinski D, Steinemann D, Morgan M, Moritz T, Schambach A. Detailed comparison of retroviral vectors and promoter configurations for stable and high transgene expression in human induced pluripotent stem cells. Gene Therapy. 2017;24:298.

Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan M, Chornokur G, Earp MA, Lyra PC, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N, group As, Aravantinos G, Arnold N, Arun BK, Arver B, Azzollini J, Balmaña J, Banerjee SN, Barjhoux L, Barkardottir RB, Bean Y, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Birrer MJ, Bjorge L, Black A, Blankstein K, Blok MJ, Bodelon C, Bogdanova N, Bojesen A, Bonanni B, Borg Å, Bradbury AR, Brenton JD, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma F, Brunet J, Buecher B, Butzow R, Buys SS, Caldes T, Caligo MA, Campbell I, Cannioto R, Carney ME, Cescon T, Chan SB, Chang-Claude J, Chanock S, Chen XQ, Chiew Y-E, Chiquette J, Chung WK, Claes KBM, Conner T, Cook LS, Cook J, Cramer DW, Cunningham JM, D’Aloisio AA, Daly MB, Damiola F, Damirovna SD, Dansonka-Mieszkowska A, Dao F, Davidson R, DeFazio A, Delnatte C, Doheny KF, Diez O, Ding YC, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dossus L, Duran M, Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U, Ejlertsen B, Ekici AB, Ellis S, Elvira M, Study E, Eng KH, Engel C, Evans DG, Fasching PA, Ferguson S, Ferrer SF, Flanagan JM, Fogarty ZC, Fortner RT, Fostira F, Foulkes WD, Fountzilas G, Fridley BL, Friebel TM, Friedman E, Frost D, Ganz PA, Garber J, García MJ, Garcia-Barberan V, Gehrig A, Collaborators GS, Gentry-Maharaj A, Gerdes A-M, Giles GG, Glasspool R, Glendon G, Godwin AK, Goldgar DE, Goranova T, Gore M, Greene MH, Gronwald J, Gruber S, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harrington PA, Harris HR, Hauke J, Study H, Hein A, Henderson A, Hildebrandt MAT, Hillemanns P, Hodgson S, Høgdall CK, Høgdall E, Hogervorst FBL, Holland H, Hooning MJ, Hosking K, Huang R-Y, Hulick PJ, Hung J, Hunter DJ, Huntsman DG, Huzarski T, Imyanitov EN, Isaacs C, Iversen ES, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M, Jensen A, Jensen UB, John EM, Johnatty S, Jones ME, Kannisto P, Karlan BY, Karnezis A, Kast K, KconFab I, Kennedy CJ, Khusnutdinova E, Kiemeney LA, Kiiski JI, Kim S-W, Kjaer SK, Köbel M, Kopperud RK, Kruse TA, Kupryjanczyk J, Kwong A, Laitman Y, Lambrechts D, Larrañaga N, Larson MC, Lazaro C, Le ND, Le Marchand L, Lee JW, Lele SB, Leminen A, Leroux D, Lester J, Lesueur F, Levine DA, Liang D, Liebrich C, Lilyquist J, Lipworth L, Lissowska J, Lu KH, Lubiński J, Luccarini C, Lundvall L, Mai PL, Mendoza-Fandiño G, Manoukian S, Massuger LFAG, May T, Mazoyer S, McAlpine JN, McGuire V, McLaughlin JR, McNeish I, Meijers-Heijboer H, Meindl A, Menon U, Mensenkamp AR, Merritt MA, Milne RL, Mitchell G, Modugno F, Moes-Sosnowska J, Moffitt M, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Nathanson KL, Nedergaard L, Ness RB, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Odunsi K, Olah E, Olopade OI, Olsson H, Olswold C, O’Malley DM, Ong K-r, Onland-Moret NC, group Os, Orr N, Orsulic S, Osorio A, Palli D, Papi L, Park-Simon T-W, Paul J, Pearce CL, Pedersen IS, Peeters PHM, Peissel B, Peixoto A, Pejovic T, Pelttari LM, Permuth JB, Peterlongo P, Pezzani L, Pfeiler G, Phillips K-A, Piedmonte M, Pike MC, Piskorz AM, Poblete SR, Pocza T, Poole EM, Poppe B, Porteous ME, Prieur F, Prokofyeva D, Pugh E, Pujana MA, Pujol P, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rhiem K, Rice P, Richardson A, Robson M, Rodriguez GC, Rodríguez-Antona C, Romm J, Rookus MA, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Salvesen HB, Sandler DP, Schoemaker MJ, Senter L, Setiawan VW, Severi G, Sharma P, Shelford T, Siddiqui N, Side LE, Sieh W, Singer CF, Sobol H, Song H, Southey MC, Spurdle AB, Stadler Z, Steinemann D, Stoppa-Lyonnet D, Sucheston-Campbell LE, Sukiennicki G, Sutphen R, Sutter C, Swerdlow AJ, Szabo CI, Szafron L, Tan YY, Taylor JA, Tea M-K, Teixeira MR, Teo S-H, Terry KL, Thompson PJ, Thomsen LCV, Thull DL, Tihomirova L, Tinker AV, Tischkowitz M, Tognazzo S, Toland AE, Tone A, Trabert B, Travis RC, Trichopoulou A, Tung N, Tworoger SS, van Altena AM, Van Den Berg D, van der Hout AH, van der Luijt RB, Van Heetvelde M, Van Nieuwenhuysen E, van Rensburg EJ, Vanderstichele A, Varon-Mateeva R, Ana V, Edwards DV, Vergote I, Vierkant RA, Vijai J, Vratimos A, Walker L, Walsh C, Wand D, Wang-Gohrke S, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, Whittemore AS, Wijnen JT, Wilkens LR, Wolk A, Woo M, Wu X, Wu AH, Yang H, Yannoukakos D, Ziogas A, Zorn KK, Narod SA, Easton DF, Amos CI, Schildkraut JM, Ramus SJ, Ottini L, Goodman MT, Park SK, Kelemen LE, Risch HA, Thomassen M, Offit K, Simard J, Schmutzler RK, Hazelett D, Monteiro AN, Couch FJ, Berchuck A, Chenevix-Trench G, Goode EL, Sellers TA, Gayther SA, Antoniou AC, Pharoah PDP. Identification of twelve new susceptibility loci for different histotypes of epithelial ovarian cancer. Nature genetics. 2017;49(5):680-91.

Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, Debatin K-M, Deubzer H, Dirksen U, Eckert C, Eggert A, Erlacher M, Fleischhack G, Frühwald MC, Gnekow A, Goehring G, Graf N, Hanenberg H, Hauer J, Hero B, Hettmer S, von Hoff K, Horstmann M, Hoyer J, Illig T, Kaatsch P, Kappler R, Kerl K, Klingebiel T, Kontny U, Kordes U, Körholz D, Koscielniak E, Kramm CM, Kuhlen M, Kulozik AE, Lamottke B, Leuschner I, Lohmann DR, Meinhardt A, Metzler M, Meyer LH, Moser O, Nathrath M, Niemeyer CM, Nustede R, Pajtler KW, Paret C, Rasche M, Reinhardt D, Rieß O, Russo A, Rutkowski S, Schlegelberger B, Schneider D, Schneppenheim R, Schrappe M, Schroeder C, von Schweinitz D, Simon T, Sparber-Sauer M, Spix C, Stanulla M, Steinemann D, Strahm B, Temming P, Thomay K, von Bueren AO, Vorwerk P, Witt O, Wlodarski M, Wössmann W, Zenker M, Zimmermann S, Pfister SM, Kratz CP. Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. American Journal of Medical Genetics Part A. 2017;173(4):1017-37.

Bahrami E, Witzel M, Racek T, Puchałka J, Hollizeck S, Greif-Kohistani N, Kotlarz D, Horny H-P, Feederle R, Schmidt H, Sherkat R, Steinemann D, Göhring G, Schlegelbeger B, Albert MH, Al-Herz W, Klein C. Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations. Journal of Allergy and Clinical Immunology. 2017;140(4):1112-9.

2016

Eggenschwiler R, Moslem M, Fráguas MS, Galla M, Papp O, Naujock M, Fonfara I, Gensch I, Wähner A, Beh-Pajooh A, Mussolino C, Tauscher M, Steinemann D, Wegner F, Petri S, Schambach A, Charpentier E, Cathomen T, Cantz T. Improved bi-allelic modification of a transcriptionally silent locus in patient-derived iPSC by Cas9 nickase. Scientific Reports. 2016;6:38198.

de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TVO, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Human Molecular Genetics. 2016;25(11):2256-68.

Awah CU, Tamm S, Hedtfeld S, Steinemann D, Tümmler B, Tsiavaliaris G, Stanke F. Mechanism of allele specific assembly and disruption of master regulator transcription factor complexes of NF-KBp50, NF-KBp65 and HIF1a on a non-coding FAS SNP. Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. 2016;1859(11):1411-28.

Christgen M, van Luttikhuizen JL, Raap M, Braubach P, Schmidt L, Jonigk D, Feuerhake F, Lehmann U, Schlegelberger B, Kreipe HH, Steinemann D. Precise ERBB2 copy number assessment in breast cancer by means of molecular inversion probe array analysis. Oncotarget. 2016;7(50):82733-40.

Scholz C, Steinemann D, Mälzer M, Roy M, Arslan-Kirchner M, Illig T, Schmidtke J, Stuhrmann M. NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition? European Journal of Medical Genetics. 2016;59(10):493-8.

Penkert J, Ripperger T, Schieck M, Schlegelberger B, Steinemann D, Illig T. On metabolic reprogramming and tumor biology: A comprehensive survey of metabolism in breast cancer. Oncotarget. 2016;7(41):67626-49.

Vigorito E, Kuchenbaecker KB, Beesley J, Adlard J, Agnarsson BA, Andrulis IL, Arun BK, Barjhoux L, Belotti M, Benitez J, Berger A, Bojesen A, Bonanni B, Brewer C, Caldes T, Caligo MA, Campbell I, Chan SB, Claes KBM, Cohn DE, Cook J, Daly MB, Damiola F, Davidson R, de Pauw A, Delnatte C, Diez O, Domchek SM, Dumont M, Durda K, Dworniczak B, Easton DF, Eccles D, Edwinsdotter Ardnor C, Eeles R, Ejlertsen B, Ellis S, Evans DG, Feliubadalo L, Fostira F, Foulkes WD, Friedman E, Frost D, Gaddam P, Ganz PA, Garber J, Garcia-Barberan V, Gauthier-Villars M, Gehrig A, Gerdes A-M, Giraud S, Godwin AK, Goldgar DE, Hake CR, Hansen TVO, Healey S, Hodgson S, Hogervorst FBL, Houdayer C, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jacobs L, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John EM, Vijai J, Karlan BY, Kast K, Investigators K, Khan S, Kwong A, Laitman Y, Lester J, Lesueur F, Liljegren A, Lubinski J, Mai PL, Manoukian S, Mazoyer S, Meindl A, Mensenkamp AR, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Olah E, Olopade OI, Ong K-r, Osorio A, Park SK, Paulsson-Karlsson Y, Pedersen IS, Peissel B, Peterlongo P, Pfeiler G, Phelan CM, Piedmonte M, Poppe B, Pujana MA, Radice P, Rennert G, Rodriguez GC, Rookus MA, Ross EA, Schmutzler RK, Simard J, Singer CF, Slavin TP, Soucy P, Southey M, Steinemann D, Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Szabo CI, Tea M-K, Teixeira MR, Teo S-H, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, van Rensburg EJ, Varesco L, Varon-Mateeva R, Vratimos A, Weitzel JN, McGuffog L, Kirk J, Toland AE, Hamann U, Lindor N, Ramus SJ, Greene MH, Couch FJ, Offit K, Pharoah PDP, Chenevix-Trench G, Antoniou AC. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLoS ONE. 2016;11(7):e0158801.

Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, Michailidou K, Ghoussaini M, Kar S, Freeman A, Hopper JL, Milne RL, Bolla MK, Wang Q, Dennis J, Agata S, Ahmed S, Aittomäki K, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Arun BK, Arver B, Bacot F, Barrowdale D, Baynes C, Beeghly-Fadiel A, Benitez J, Bermisheva M, Blomqvist C, Blot WJ, Bogdanova NV, Bojesen SE, Bonanni B, Borresen-Dale A-L, Brand JS, Brauch H, Brennan P, Brenner H, Broeks A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldes T, Campbell I, Carpenter J, Chang-Claude J, Choi J-Y, Claes KBM, Clarke C, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M, De Leeneer K, Devilee P, Diez O, Domchek SM, Doody M, Dorfling CM, Dörk T, dos-Santos-Silva I, Dumont M, Dwek M, Dworniczak B, Egan K, Eilber U, Einbeigi Z, Ejlertsen B, Ellis S, Frost D, Lalloo F, on behalf of E, Fasching PA, Figueroa J, Flyger H, Friedlander M, Friedman E, Gambino G, Gao Y-T, Garber J, García-Closas M, Gehrig A, Damiola F, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, behalf of GSC, Giles GG, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Haiman CA, Hallberg E, Hamann U, Hansen TVO, Hart S, Hartikainen JM, Hartman M, Hassan N, Healey S, Hogervorst FBL, Verhoef S, on behalf of H, Hendricks CB, Hillemanns P, Hollestelle A, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John EM, Joly Beauparlant C, Jones M, Kabisch M, Kang D, Karlan BY, Kauppila S, Kerin MJ, Khan S, Khusnutdinova E, Knight JA, Konstantopoulou I, Kraft P, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Le Marchand L, Lee CN, Lee MH, Lester J, Li J, Liljegren A, Lindblom A, Lophatananon A, Lubinski J, Mai PL, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K, McGuffog L, Meindl A, Menegaux F, Montagna M, Muir K, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Newcomb PA, Nord S, Nussbaum RL, Offit K, Olah E, Olopade OI, Olswold C, Osorio A, Papi L, Park-Simon T-W, Paulsson-Karlsson Y, Peeters S, Peissel B, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Presneau N, Radice P, Rahman N, Ramus SJ, Rashid MU, Rennert G, Rhiem K, Rudolph A, Salani R, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schürmann P, Seynaeve C, Shen C-Y, Shrubsole MJ, Shu X-O, Sigurdson A, Singer CF, Slager S, Soucy P, Southey M, Steinemann D, Swerdlow A, Szabo CI, Tchatchou S, Teixeira MR, Teo SH, Terry MB, Tessier DC, Teulé A, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Tung N, Turnbull C, van den Ouweland AMW, van Rensburg EJ, ven den Berg D, Vijai J, Wang-Gohrke S, Weitzel JN, Whittemore AS, Winqvist R, Wong TY, Wu AH, Yannoukakos D, Yu J-C, Pharoah PDP, Hall P, Chenevix-Trench G, on behalf of K, Investigators A, Dunning AM, Simard J, Couch FJ, Antoniou AC, Easton DF, Zheng W. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast Cancer Research : BCR. 2016;18:64.

Christgen M, Steinemann D, Kühnle E, Länger F, Gluz O, Harbeck N, Kreipe H. Lobular breast cancer: Clinical, molecular and morphological characteristics. Pathology - Research and Practice. 2016;212(7):583-97.

Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomäki K, Ambrosone C, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Barile M, Barkardottir RB, Barrowdale D, Beckmann L, Beckmann MW, Benitez J, Blank SV, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldes T, Caligo MA, Canzian F, Carpenter J, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, de la Hoya M, Devilee P, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, dos-Santos-Silva I, Dumont M, Dunning AM, Eccles DM, Ehrencrona H, Ekici AB, Eliassen H, Ellis S, Fasching PA, Figueroa J, Flesch-Janys D, Försti A, Fostira F, Foulkes WD, Friebel T, Friedman E, Frost D, Gabrielson M, Gammon MD, Ganz PA, Gapstur SM, Garber J, Gaudet MM, Gayther SA, Gerdes A-M, Ghoussaini M, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Gunter M, Haeberle L, Haiman CA, Hamann U, Hansen TVO, Hart S, Healey S, Heikkinen T, Henderson BE, Herzog J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Humphreys K, Hunter DJ, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Jones M, Kabisch M, Kar S, Karlan BY, Khan S, Khaw K-T, Kibriya MG, Knight JA, Ko Y-D, Konstantopoulou I, Kosma V-M, Kristensen V, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Lee E, Le Marchand L, Lester J, Lindblom A, Lindor N, Lindstrom S, Liu J, Long J, Lubinski J, Mai PL, Makalic E, Malone KE, Mannermaa A, Manoukian S, Margolin S, Marme F, Martens JWM, McGuffog L, Meindl A, Miller A, Milne RL, Miron P, Montagna M, Mazoyer S, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olopade OI, Olson JE, Osorio A, Park SK, Peeters PH, Peissel B, Peterlongo P, Peto J, Phelan CM, Pilarski R, Poppe B, Pylkäs K, Radice P, Rahman N, Rantala J, Rappaport C, Rennert G, Richardson A, Robson M, Romieu I, Rudolph A, Rutgers EJ, Sanchez M-J, Santella RM, Sawyer EJ, Schmidt DF, Schmidt MK, Schmutzler RK, Schumacher F, Scott R, Senter L, Sharma P, Simard J, Singer CF, Sinilnikova OM, Soucy P, Southey M, Steinemann D, Stenmark-Askmalm M, Stoppa-Lyonnet D, Swerdlow A, Szabo CI, Tamimi R, Tapper W, Teixeira MR, Teo S-H, Terry MB, Thomassen M, Thompson D, Tihomirova L, Toland AE, Tollenaar RAEM, Tomlinson I, Truong T, Tsimiklis H, Teulé A, Tumino R, Tung N, Turnbull C, Ursin G, van Deurzen CHM, van Rensburg EJ, Varon-Mateeva R, Wang Z, Wang-Gohrke S, Weiderpass E, Weitzel JN, Whittemore A, Wildiers H, Winqvist R, Yang XR, Yannoukakos D, Yao S, Zamora MP, Zheng W, Hall P, Kraft P, Vachon C, Slager S, Chenevix-Trench G, Pharoah PDP, Monteiro AAN, García-Closas M, Easton DF, Antoniou AC. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature Communications. 2016;7:11375.

Manukjan G, Ripperger T, Venturini L, Stadler M, Göhring G, Schambach A, Schlegelberger B, Steinemann D. GABP is necessary for stem/progenitor cell maintenance and myeloid differentiation in human hematopoiesis and chronic myeloid leukemia. Stem Cell Research. 2016;16(3):677-81.

Gebauer F, Wicklein D, Tachezy M, Grob T, Steinemann D, Manukjan G, Göhring G, Schlegelberger B, Maar H, Izbicki JR, Bockhorn M, Schumacher U. Establishment and Characterization of a Pair of Patient-derived Human Non-small Cell Lung Cancer Cell Lines from a Primary Tumor and Corresponding Lymph Node Metastasis. Anticancer Research. 2016;36(4):1507-18.

Song G, Pacher M, Balakrishnan A, Yuan Q, Tsay H-C, Yang D, Reetz J, Brandes S, Dai Z, Pützer Brigitte M, Araúzo-Bravo Marcos J, Steinemann D, Luedde T, Schwabe Robert F, Manns Michael P, Schöler Hans R, Schambach A, Cantz T, Ott M, Sharma Amar D. Direct Reprogramming of Hepatic Myofibroblasts into Hepatocytes In Vivo Attenuates Liver Fibrosis. Cell Stem Cell. 2016;18(6):797-808.

Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, Rantala J, Yoon S-Y, Caligo MA, Spugnesi L, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Toland AE, Senter L, Andrulis IL, Glendon G, Hulick PJ, Imyanitov EN, Greene MH, Mai PL, Singer CF, Rappaport-Fuerhauser C, Kramer G, Vijai J, Offit K, Robson M, Lincoln A, Jacobs L, Machackova E, Foretova L, Navratilova M, Vasickova P, Couch FJ, Hallberg E, Ruddy KJ, Sharma P, Kim S-W, kConFab I, Teixeira MR, Pinto P, Montagna M, Matricardi L, Arason A, Johannsson OT, Barkardottir RB, Jakubowska A, Lubinski J, Izquierdo A, Pujana MA, Balmaña J, Diez O, Ivady G, Papp J, Olah E, Kwong A, Hereditary B, Ovarian Cancer Research Group N, Nevanlinna H, Aittomäki K, Perez Segura P, Caldes T, Van Maerken T, Poppe B, Claes KBM, Isaacs C, Elan C, Lasset C, Stoppa-Lyonnet D, Barjhoux L, Belotti M, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Kast K, Arnold N, Varon-Mateeva R, Wand D, Godwin AK, Evans DG, Frost D, Perkins J, Adlard J, Izatt L, Platte R, Eeles R, Ellis S, Embrace, Hamann U, Garber J, Fostira F, Fountzilas G, Pasini B, Giannini G, Rizzolo P, Russo A, Cortesi L, Papi L, Varesco L, Palli D, Zanna I, Savarese A, Radice P, Manoukian S, Peissel B, Barile M, Bonanni B, Viel A, Pensotti V, Tommasi S, Peterlongo P, Weitzel JN, Osorio A, Benitez J, McGuffog L, Healey S, Gerdes A-M, Ejlertsen B, Hansen TVO, Steele L, Ding YC, Tung N, Janavicius R, Goldgar DE, Buys SS, Daly MB, Bane A, Terry MB, John EM, Southey M, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Research : BCR. 2016;18:15.

Ripperger T, Tawana K, Kratz C, Schlegelberger B, Fitzgibbon J, Steinemann D. Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies. European Journal of Human Genetics. 2016;24(8).

Thiesler CT, Cajic S, Hoffmann D, Thiel C, van Diepen L, Hennig R, Sgodda M, Weibetamann R, Reichl U, Steinemann D, Diekmann U, Huber NM, Oberbeck A, Cantz T, Kuss AW, Korner C, Schambach A, Rapp E, Buettner FF. Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG). Molecular & cellular proteomics : MCP. 2016;15(4):1435-52.

Song G, Pacher M, Balakrishnan A, Yuan Q, Tsay HC, Yang D, Reetz J, Brandes S, Dai Z, Putzer BM, Arauzo-Bravo MJ, Steinemann D, Luedde T, Schwabe RF, Manns MP, Scholer HR, Schambach A, Cantz T, Ott M, Sharma AD. Direct Reprogramming of Hepatic Myofibroblasts into Hepatocytes In Vivo Attenuates Liver Fibrosis. Cell stem cell. 2016;18(6):797-808.

Ripperger T, Tawana K, Kratz C, Schlegelberger B, Fitzgibbon J, Steinemann D. Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies. Eur J Hum Genet. 2016;24(8).

Manukjan G, Ripperger T, Venturini L, Stadler M, Gohring G, Schambach A, Schlegelberger B, Steinemann D. GABP is necessary for stem/progenitor cell maintenance and myeloid differentiation in human hematopoiesis and chronic myeloid leukemia. Stem cell research. 2016;16(3):677-81.

Eggenschwiler R, Moslem M, Fraguas MS, Galla M, Papp O, Naujock M, Fonfara I, Gensch I, Wahner A, Beh-Pajooh A, Mussolino C, Tauscher M, Steinemann D, Wegner F, Petri S, Schambach A, Charpentier E, Cathomen T, Cantz T. Improved bi-allelic modification of a transcriptionally silent locus in patient-derived iPSC by Cas9 nickase. Scientific reports. 2016;6:38198.

Christgen M, van Luttikhuizen JL, Raap M, Braubach P, Schmidt L, Jonigk D, Feuerhake F, Lehmann U, Schlegelberger B, Kreipe HH, Steinemann D. Precise ERBB2 copy number assessment in breast cancer by means of molecular inversion probe array analysis. Oncotarget. 2016;7(50):82733-40.

2015

Begay V, Smink JJ, Loddenkemper C, Zimmermann K, Rudolph C, Scheller M, Steinemann D, Leser U, Schlegelberger B, Stein H, Leutz A. Deregulation of the Endogenous C/Ebpbeta Lip Isoform Predisposes to Tumorigenesis. J Mol Med (Berl). 2015;93(1):39-49. Epub 2014/11/18.

Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J, Soucy P, Eeles RA, Easton DF, Hamann U, Wilkening S, Chen B, Rookus MA, Schmidt MK, van der Baan FH, Spurdle AB, Walker LC, Lose F, Maia AT, Montagna M, Matricardi L, Lubinski J, Jakubowska A, Gomez Garcia EB, Olopade OI, Nussbaum RL, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Karlan BY, Orsulic S, Lester J, Chung WK, Miron A, Southey MC, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Ding YC, Neuhausen SL, Hansen TV, Gerdes AM, Ejlertsen B, Jonson L, Osorio A, Martinez-Bouzas C, Benitez J, Conway EE, Blazer KR, Weitzel JN, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Barile M, Ficarazzi F, Mariette F, Fortuzzi S, Viel A, Giannini G, Papi L, Martayan A, Tibiletti MG, Radice P, Vratimos A, Fostira F, Garber JE, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles D, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Davidson R, Hodgson SV, Ellis S, Cole T, Godwin AK, Claes K, Van Maerken T, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Wappenschmidt B, Wang-Gohrke S, Bressac-de Paillerets B, Buecher B, Delnatte C, Houdayer C, Stoppa-Lyonnet D, Damiola F, Coupier I, Barjhoux L, Venat-Bouvet L, Golmard L, Boutry-Kryza N, Sinilnikova OM, Caron O, Pujol P, Mazoyer S, Belotti M, Piedmonte M, Friedlander ML, Rodriguez GC, Copeland LJ, de la Hoya M, Segura PP, Nevanlinna H, Aittomaki K, van Os TA, Meijers-Heijboer HE, van der Hout AH, Vreeswijk MP, Hoogerbrugge N, Ausems MG, van Doorn HC, Collee JM, Olah E, Diez O, Blanco I, Lazaro C, Brunet J, Feliubadalo L, Cybulski C, Gronwald J, Durda K, Jaworska-Bieniek K, Sukiennicki G, Arason A, Chiquette J, Teixeira MR, Olswold C, Couch FJ, Lindor NM, Wang X, Szabo CI, Offit K, Corines M, Jacobs L, Robson ME, Zhang L, Joseph V, Berger A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Glendon G, Tchatchou S, Andrulis IL, Toland AE, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Laitman Y, Rantala J, von Wachenfeldt A, Ehrencrona H, Askmalm MS, Borg A, Kuchenbaecker KB, McGuffog L, Barrowdale D, Healey S, Lee A, Pharoah PD, Chenevix-Trench G, Antoniou AC, Friedman E. Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in Brca1 and Brca2 Mutation Carriers. Cancer Epidemiol Biomarkers Prev. 2015;24(1):308-16. Epub 2014/10/23.

Schlegelberger B, Kreipe H, Lehmann U, Steinemann D, Ripperger T, Gohring G, Thomay K, Rump A, Di Donato N, Suttorp M. A Child with Li-Fraumeni Syndrome: Modes to Inactivate the Second Allele of Tp53 in Three Different Malignancies. Pediatr Blood Cancer. 2015;62(8):1481-4. Epub 2015/03/20.

Roessler J, Ammerpohl O, Gutwein J, Steinemann D, Schlegelberger B, Weyer V, Sariyar M, Geffers R, Arnold N, Schmutzler R, Bartram CR, Heinrich T, Abbas M, Antonopoulos W, Schipper E, Hasemeier B, Kreipe H, Lehmann U. The Cpg Island Methylator Phenotype in Breast Cancer Is Associated with the Lobular Subtype. Epigenomics. 2015;7(2):187-99. Epub 2014/10/28.

Manukjan G, Ripperger T, Santer L, von Neuhoff N, Ganser A, Schambach A, Schlegelberger B, Steinemann D. Expression of the Ets Transcription Factor Gabpalpha Is Positively Correlated to the Bcr-Abl1/Abl1 Ratio in Cml Patients and Affects Imatinib Sensitivity in Vitro. Exp Hematol. 2015;43(10):880-90. Epub 2015/06/15.

Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K. Phenotypic and Molecular Insights into Cask-Related Disorders in Males. Orphanet J Rare Dis. 2015;10:44. Epub 2015/04/18.

Ripperger T, Manukjan G, Meyer J, Wolter S, Schambach A, Bohne J, Modlich U, Li Z, Skawran B, Schlegelberger B, Steinemann D. The Heteromeric Transcription Factor Gabp Activates the Itgam/Cd11b Promoter and Induces Myeloid Differentiation. Biochim Biophys Acta. 2015;1849(9):1145-54. Epub 2015/07/15.

Schwarzer A, Holtmann H, Brugman M, Meyer J, Schauerte C, Zuber J, Steinemann D, Schlegelberger B, Li Z, Baum C. Hyperactivation of Mtorc1 and Mtorc2 by Multiple Oncogenic Events Causes Addiction to Eif4e-Dependent Mrna Translation in T-Cell Leukemia. Oncogene. 2015;34(27):3593-604. Epub 2014/09/23.

Dreyer AK, Hoffmann D, Lachmann N, Ackermann M, Steinemann D, Timm B, Siler U, Reichenbach J, Grez M, Moritz T, Schambach A, Cathomen T. Talen-Mediated Functional Correction of X-Linked Chronic Granulomatous Disease in Patient-Derived Induced Pluripotent Stem Cells. Biomaterials. 2015;69:191-200. Epub 2015/08/22.

2014

Schott JW, Hoffmann D, Maetzig T, Muller FJ, Steinemann D, Zychlinski D, Cantz T, Baum C, Schambach A. Improved Retroviral Episome Transfer of Transcription Factors Enables Sustained Cell Fate Modification. Gene Ther. 2014;21(11):938-49. Epub 2014/08/08.

Skokowa J, Steinemann D, Katsman-Kuipers JE, Zeidler C, Klimenkova O, Klimiankou M, Unalan M, Kandabarau S, Makaryan V, Beekman R, Behrens K, Stocking C, Obenauer J, Schnittger S, Kohlmann A, Valkhof MG, Hoogenboezem R, Gohring G, Reinhardt D, Schlegelberger B, Stanulla M, Vandenberghe P, Donadieu J, Zwaan CM, Touw IP, van den Heuvel-Eibrink MM, Dale DC, Welte K. Cooperativity of Runx1 and Csf3r Mutations in Severe Congenital Neutropenia: A Unique Pathway in Myeloid Leukemogenesis. Blood. 2014;123(14):2229-37.

Osorio A, Milne RL, Kuchenbaecker K, Vaclova T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Diez O, Ramon YCT, Konstantopoulou I, Martinez-Bouzas C, Andres Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A, Swe B, Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jonson L, Ejlertsen B, Gerdes AM, Infante M, Herraez B, Moreno LT, Weitzel JN, Herzog J, Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P, Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S, Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P, Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Damiola F, Poppe B, Claes K, Piedmonte M, Tucker K, Backes F, Rodriguez G, Brewster W, Wakeley K, Rutherford T, Caldes T, Nevanlinna H, Aittomaki K, Rookus MA, van Os TA, van der Kolk L, de Lange JL, Meijers-Heijboer HE, van der Hout AH, van Asperen CJ, Gomez Garcia EB, Hoogerbrugge N, Collee JM, van Deurzen CH, van der Luijt RB, Devilee P, Hebon, Olah E, Lazaro C, Teule A, Menendez M, Jakubowska A, Cybulski C, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Johannsson OT, Maugard C, Montagna M, Tognazzo S, Teixeira MR, Healey S, Investigators K, Olswold C, Guidugli L, Lindor N, Slager S, Szabo CI, Vijai J, Robson M, Kauff N, Zhang L, Rau-Murthy R, Fink-Retter A, Singer CF, Rappaport C, Geschwantler Kaulich D, Pfeiler G, Tea MK, Berger A, Phelan CM, Greene MH, Mai PL, Lejbkowicz F, Andrulis I, Mulligan AM, Glendon G, Toland AE, Bojesen A, Pedersen IS, Sunde L, Thomassen M, Kruse TA, Jensen UB, Friedman E, Laitman Y, Shimon SP, Simard J, Easton DF, Offit K, Couch FJ, Chenevix-Trench G, Antoniou AC, Benitez J. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in Brca1 and Brca2 Mutation Carriers. PLoS Genet. 2014;10(4):e1004256.

Lachmann N, Happle C, Ackermann M, Luttge D, Wetzke M, Merkert S, Hetzel M, Kensah G, Jara-Avaca M, Mucci A, Skuljec J, Dittrich AM, Pfaff N, Brennig S, Schambach A, Steinemann D, Gohring G, Cantz T, Martin U, Schwerk N, Hansen G, Moritz T. Gene Correction of Human Induced Pluripotent Stem Cells Repairs the Cellular Phenotype in Pulmonary Alveolar Proteinosis. Am J Respir Crit Care Med. 2014;189(2):167-82. Epub 2013/11/28.

Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Rothe M, Modlich U, Beier R, Gohring G, Steinemann D, Fronza R, Ball CR, Haemmerle R, Naundorf S, Kuhlcke K, Rose M, Fraser C, Mathias L, Ferrari R, Abboud MR, Al-Herz W, Kondratenko I, Marodi L, Glimm H, Schlegelberger B, Schambach A, Albert MH, Schmidt M, von Kalle C, Klein C. Gene Therapy for Wiskott-Aldrich Syndrome--Long-Term Efficacy and Genotoxicity. Sci Transl Med. 2014;6(227):227ra33.

Kuehle J, Turan S, Cantz T, Hoffmann D, Suerth JD, Maetzig T, Zychlinski D, Klein C, Steinemann D, Baum C, Bode J, Schambach A. Modified Lentiviral Ltrs Allow Flp Recombinase-Mediated Cassette Exchange and in Vivo Tracing of [Ldquo]Factor-Free[Rdquo] Induced Pluripotent Stem Cells. Mol Ther. 2014;22(5):919-28.

Feurstein S, Rucker FG, Bullinger L, Hofmann W, Manukjan G, Gohring G, Lehmann U, Heuser M, Ganser A, Dohner K, Schlegelberger B, Steinemann D. Haploinsufficiency of Etv6 and Cdkn1b in Patients with Acute Myeloid Leukemia and Complex Karyotype. BMC Genomics. 2014;15:784. Epub 2014/09/13.

Braig M, Pallmann N, Preukschas M, Steinemann D, Hofmann W, Gompf A, Streichert T, Braunschweig T, Copland M, Rudolph KL, Bokemeyer C, Koschmieder S, Schuppert A, Balabanov S, Brummendorf TH. A 'Telomere-Associated Secretory Phenotype' Cooperates with Bcr-Abl to Drive Malignant Proliferation of Leukemic Cells. Leukemia. 2014;28(10):2028-39.

2013

Kustikova OS, Schwarzer A, Stahlhut M, Brugman MH, Neumann T, Yang M, Li Z, Schambach A, Heinz N, Gerdes S, Roeder I, Ha TC, Steinemann D, Schlegelberger B, Baum C. Activation of Evi1 Inhibits Cell Cycle Progression and Differentiation of Hematopoietic Progenitor Cells. Leukemia. 2013;27(5):1127-38.

Ripperger T, Tauscher M, Thomay K, Gohring G, Kraemer D, Schlegelberger B, Steinemann D. No Evidence for Itsn1 Loss in a Patient with Mental Retardation and Complex Chromosomal Rearrangements of 21q21-21q22. Leuk Res. 2013;37(6):721-3.

Didie M, Christalla P, Rubart M, Muppala V, Doker S, Unsold B, El-Armouche A, Rau T, Eschenhagen T, Schwoerer AP, Ehmke H, Schumacher U, Fuchs S, Lange C, Becker A, Tao W, Scherschel JA, Soonpaa MH, Yang T, Lin Q, Zenke M, Han DW, Scholer HR, Rudolph C, Steinemann D, Schlegelberger B, Kattman S, Witty A, Keller G, Field LJ, Zimmermann WH. Parthenogenetic Stem Cells for Tissue-Engineered Heart Repair. J Clin Invest. 2013;123(3):1285-98.

Santag S, Jager W, Karsten CB, Kati S, Pietrek M, Steinemann D, Sarek G, Ojala PM, Schulz TF. Recruitment of the Tumour Suppressor Protein P73 by Kaposi's Sarcoma Herpesvirus Latent Nuclear Antigen Contributes to the Survival of Primary Effusion Lymphoma Cells. Oncogene. 2013;32(32):3676-85.

Manukjan G, Tauscher M, Steinemann D. Replication Timing Influences DNA Copy Number Determination by Array-Cgh. Biotechniques. 2013;55(5):231-2.

Grabundzija I, Wang J, Sebe A, Erdei Z, Kajdi R, Devaraj A, Steinemann D, Szuhai K, Stein U, Cantz T, Schambach A, Baum C, Izsvak Z, Sarkadi B, Ivics Z. Sleeping Beauty Transposon-Based System for Cellular Reprogramming and Targeted Gene Insertion in Induced Pluripotent Stem Cells. Nucleic Acids Res. 2013;41(3):1829-47.

Eggenschwiler R, Loya K, Wu G, Sharma AD, Sgodda M, Zychlinski D, Herr C, Steinemann D, Teckman J, Bals R, Ott M, Schambach A, Scholer HR, Cantz T. Sustained Knockdown of a Disease-Causing Gene in Patient-Specific Induced Pluripotent Stem Cells Using Lentiviral Vector-Based Gene Therapy. Stem Cells Transl Med. 2013;2(9):641-54.

Tauscher M, Praulich I, Steinemann D. Array-Cgh in Childhood Mds. Methods Mol Biol. 2013;973:267-78.

Steinemann D, Gohring G, Schlegelberger B. Genetic Instability of Modified Stem Cells - a First Step Towards Malignant Transformation? Am J Stem Cells. 2013;2(1):39-51. Epub 2013/05/15.

2006 - 2012

2012

Penkert J, Schlegelberger B, Steinemann D, Gadzicki D. No Evidence for Breast Cancer Susceptibility Associated with Variants of Brd7, a Component of P53 and Brca1 Pathways. Fam Cancer. 2012;11(4):601-6.

Schumacher U, Nehmann N, Adam E, Mukthar D, Slotki IN, Horny HP, Flens MJ, Schlegelberger B, Steinemann D. Mdr-1-Overexpression in Ht 29 Colon Cancer Cells Grown in Scid Mice. Acta Histochem. 2012;114(6):594-602.

Yalcinkaya C, Erturk O, Tuysuz B, Yesil G, Verbeke JI, Keyser B, Stuhrmann M, Steinemann D, Sistermans EA, van der Knaap MS. A Novel Gjc2 Mutation Associated with Hypomyelination and Mullerian Agenesis Syndrome: Coincidence or a New Entity? Neuropediatrics. 2012;43(3):159-61.

Kaufmann KB, Grunder A, Hadlich T, Wehrle J, Gothwal M, Bogeska R, Seeger TS, Kayser S, Pham KB, Jutzi JS, Ganzenmuller L, Steinemann D, Schlegelberger B, Wagner JM, Jung M, Will B, Steidl U, Aumann K, Werner M, Gunther T, Schule R, Rambaldi A, Pahl HL. A Novel Murine Model of Myeloproliferative Disorders Generated by Overexpression of the Transcription Factor Nf-E2. J Exp Med. 2012;209(1):35-50.

Pauli S, Steinemann D, Dittmann K, Wienands J, Shoukier M, Moschner M, Burfeind P, Manukjan G, Gohring G, Escherich G. Occurrence of Acute Lymphoblastic Leukemia and Juvenile Myelomonocytic Leukemia in a Patient with Noonan Syndrome Carrying the Germline Ptpn11 Mutation P.E139d. Am J Med Genet A. 2012;158A(3):652-8.

Manukjan G, Tauscher M, Ripperger T, Schwarzer A, Schlegelberger B, Steinemann D. Induced G1 Phase Arrest of Fast-Dividing Cells Improves the Quality of Genomic Profiles Generated by Array-Cgh. Biotechniques. 2012;53(4):245-8.

Otte A, Gohring G, Steinemann D, Schlegelberger B, Groos S, Langer F, Kreipe HH, Schambach A, Neumann T, Hillemanns P, Park-Simon TW, Hass R. A Tumor-Derived Population (Sccoht-1) as Cellular Model for a Small Cell Ovarian Carcinoma of the Hypercalcemic Type. Int J Oncol. 2012;41(2):765-75.

Heckl D, Schwarzer A, Haemmerle R, Steinemann D, Rudolph C, Skawran B, Knoess S, Krause J, Li Z, Schlegelberger B, Baum C, Modlich U. Lentiviral Vector Induced Insertional Haploinsufficiency of Ebf1 Causes Murine Leukemia. Mol Ther. 2012;20(6):1187-95.

2011

Wu G, Liu N, Rittelmeyer I, Sharma AD, Sgodda M, Zaehres H, Bleidissel M, Greber B, Gentile L, Han DW, Rudolph C, Steinemann D, Schambach A, Ott M, Scholer HR, Cantz T. Generation of Healthy Mice from Gene-Corrected Disease-Specific Induced Pluripotent Stem Cells. PLoS Biol. 2011;9(7):e1001099.

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