Publikationen

  1. Bellido F, Sowada N, Mur P, Lázaro C, Pons T, Valdés-Mas R, Pineda M, Aiza G, Iglesias S, Soto JL, Urioste M, Caldés T, Balbín M, Blay P, Rueda D, Durán M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capellá G, Valle L. (2018) Association Between Germline Mutations in BRF1, a subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer. Gastroenterology. 154(1):181-194.e20

  2. Björkman A, Du L, van der Burg M, Cormier-Daire V, Borck G, Pié J, Anderlid BM, Hammarström L, Ström L, de Villartay JP, Kipling D, Walters DD, Pan-Hammarström Q. (2018) Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome. J Allergy Clin Immunol.141(1):408-411.e8

  3. Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D; German ALS network MND-NET, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH (2018) Hot-spot KIF5A mutations cause familial ALS. Brain. [Epub ahead of print]

  4. Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M (2018) Noncoding copy-number variations are associated with congenital limb malformation. Genet Med. [Epub ahead of print]

  5. Hasselblatt M, Kurniawan AD, Rozsnoki S, Johann PD, Bens S, Oyen F, Schneppenheim R, Siebert R, Capper D, Kool M, Schul C, Paulus W. (2018) Glial papillary tumour of the spinal cord with SMARCB1/INI1-loss and favourable long-term outcome. Neuropathol Appl Neurobiol. [Epub ahead of print]

  6. Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G, Bergmann C (2018) Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies Am J Med Genet A. 176(2):438-442

  7. Paul U, Richter J, Stuhlmann-Laiesz C, Kreuz M, Nagel I, Horn H, Staiger AM, Aukema SM, Hummel M, Ott G, Spang R, Rosenwald A, Feller AC, Cogliatti S, Stein H, Hansmann ML, Moller P, Szczepanowski M, Burkhardt B, Pfreundschuh M, Schmitz N, Loeffler M, Trümper L, Siebert R, Klapper W. (2018) Advanced patient age at diagnosis of diffuse large B-cell lymphoma is associated with molecular characteristics including ABC-subtype and high expression of MYC. Leuk Lymphoma. [Epub ahead of print]

  8. Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E (2018) BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res. 20(1):7.

  9. Yilmaz R, Szakszon K, Altmann A, Altunoglu U, Senturk L, McGuire M, Calabrese O, Madan-Khetarpal S, Basel-Vanagaite L, Borck G (2018) Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.Am J Med Genet A. 176(1):187-193

  1. Aukema SM, van Pel R, Nagel I, Bens S, Siebert R, Rosati S, van den Berg E, Bosga-Bouwer AG, Kibbelaar RE, Hoogendoorn M, van Imhoff GW, Kluin-Nelemans JC, Kluin PM, Nijland M (2017) MYC expression and translocation analyses in low-grade and transformed Follicular Lymphoma. Histopathology. 71(6): 1091-1098

  2. Bens S, Luedeke M, Richter T, Graf M, Kolarova J, Barbi G, Lato K, Barth TF, Siebert R. (2017) Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge. Clin Epigenetics. 13;9:111

  3. Bergmann AK, Castellano G, Alten J, Ammerpohl O, Kolarova J, Nordlund J, Martin-Subero JI, Schrappe M, Siebert R. (2017) DNA methylation profiling of pediatric B-cell lymphoblastic leukemia with KMT2A rearrangement identifies hypomethylation at enhancer sites Pediatr Blood Cancer. 64(3)

  4. Brunner C, Davies NM, Martin RM, Eeles R, Easton D, Kote-Jarai Z, A Olama AA, Benlloch S, Muir K, Giles G, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal D, Donovan J, Hamdy FC, Pashayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park J, Kaneva R, Batra J, Teixeira MR, Pandha H; PRACTICAL Consortium,, Zuccolo L. (2017) Alcohol consumption and prostate cancer incidence and progression: A Mendelian randomisation study. Int J Cancer. 140(1):75-85.

  5. Bouska A, Bi C, Lone W, Zhang W, Kedwaii A, Heavican T, Lachel CM, Yu J, Ferro R, Eldorghamy N, Greiner TC, Vose J, Weisenburger DD, Gascoyne RD, Rosenwald A, Ott G, Campo E, Rimsza LM, Jaffe ES, Braziel RM, Siebert R, Miles RR, Dave S, Reddy A, Delabie J, Staudt LM, Song JY, McKeithan TW, Fu K, Green M, Chan WC, Iqbal J. (2017) Adult High Grade B-cell Lymphoma with Burkitt Lymphoma Signature: Genomic features and Potential Therapeutic Targets. Blood 130(16):1819-1831

  6. Bozzai B, Hasselblatt M, Turányi E, Frühwald MC, Siebert R, Bens S, Schneppenheim R, Kool M, Stelczer G, Hortobágyi T, Hauser P. (2017) Atypical teratoid/rhabdoid tumor arising in a malignant glioma. Pediatr Blood Cancer. 64(1):96-99.

  7. Dai B, Grau M, Juilland M, Klener P, Höring E, Molinsky J, Schimmack G, Aukema SM, Hoster E, Vogt N, Staiger AM, Erdmann T, Xu W, Erdmann K, Dzyuba N, Madle H, Berdel WE, Trneny M, Dreyling M, Jöhrens K, Lenz P, Rosenwald A, Siebert R, Tzankov A, Klapper W, Anagnostopoulos I, Krappmann D, Ott G, Thome M, Lenz G. (2017) B-cell receptor driven MALT1 activity regulates MYC signaling in mantle cell lymphoma. Blood 129(3):333-346

  8. Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U. (2017) DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. Am J Med Genet A. 173(5):1369-1373

  9. Gaspar H, Lutz B, Reicherter K, Lühl S, Taurman R, Gabriel H, Brenner RE, Borck G. (2017) 4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. Am J Med Genet A. 173(8):2289-2292

  10. Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J, Aittomäki K, Andrulis IL, Arason A, Arnold N, Arun BK, Azzollini J, Bane A, Barjhoux L, Barrowdale D, Benitez J, Berthet P, Blok MJ, Bobolis K, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caligo MA, Chiquette J, Chung WK, Claes KB, Daly MB, Damiola F, Davidson R, De la Hoya M, De Leeneer K, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Eccles D, Eeles R, Einbeigi Z, Ejlertsen B; EMBRACE, Engel C, Gareth Evans D, Feliubadalo L, Foretova L, Fostira F, Foulkes WD, Fountzilas G, Friedman E, Frost D, Ganschow P, Ganz PA, Garber J, Gayther SA; GEMO Study Collaborators, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gronwald J, Hahnen E, Hamann U, Hansen TV, Hart S, Hays JL; HEBON, Hogervorst FB, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Joseph V, Just W, Kaczmarek K, Karlan BY; KConFab Investigators, Kets CM, Kirk J, Kriege M, Laitman Y, Laurent M, Lazaro C, Leslie G, Lester J, Lesueur F, Liljegren A, Loman N, Loud JT, Manoukian S, Mariani M, Mazoyer S, McGuffog L, Meijers-Heijboer HE, Meindl A, Miller A, Montagna M, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Nussbaum RL, Olah E, Olopade OI, Ong KR, Oosterwijk JC, Osorio A, Papi L, Park SK, Pedersen IS, Peissel B, Segura PP, Peterlongo P, Phelan CM, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Richardson A, Robson M, Rodriguez GC, Rookus MA, Schmutzler RK, Sevenet N, Shah PD, Singer CF, Slavin TP, Snape K, Sokolowska J, Sønderstrup IM, Southey M, Spurdle AB, Stadler Z, Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Tan Y, Tea MK, Teixeira MR, Teulé A, Teo SH, Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van den Ouweland AM, van der Luijt RB, van Engelen K, van Rensburg EJ, Varon-Mateeva R, Wappenschmidt B, Wijnen JT, Rebbeck T, Chenevix-Trench G, Offit K, Couch FJ, Nord S, Easton DF, Antoniou AC, Simard J. (2017) Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Res Treat. 161(1):117-134

  11. Jee YH, Sowada N, Markello TC, Rezvani I, Borck G, Baron J (2017) BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies. Clin Genet. 91(5):739-747

  12. Johann PD, Hovestadt V, Thomas C, Jeibmann A, Heß K, Bens S, Oyen F, Hawkins C, Pierson CR, Aldape K, Kim SP, Widing E, Sumerauer D, Hauser P, van Landeghem F, Ryzhova M, Korshunov A, Capper D, Jones DTW, Pfister SM, Schneppenheim R, Siebert R, Paulus W, Frühwald MC, Kool M, Hasselblatt M (2017) Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. Brain Pathol. 27(4):411-418

  13. Kehrer-Sawatzki H, Farschtschi S, Mautner VF, Cooper DN (2017) The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Human Genet. 136(2):129-148.

  14. Kehrer-Sawatzki H, Mautner VF, Cooper DN. (2017) Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet. 136(4):349-376

  15. Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C (2017) Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.JAMA Neurol. 74(7):806-812

  16. Nagel I, Bartels M, Duell J, Oberg HH, Ussat S, Bruckmueller H, Ottmann O, Pfeifer H, Trautmann H, Gökbuget N, Caliebe A, Kabelitz D, Kneba M, Horst HA, Hoelzer D, Topp MS, Cascorbi I, Siebert R, Brüggemann M. (2017) Hematopoietic stem cell involvement in BCR-ABL1-positive ALL as a potential mechanism of resistance to blinatumomab therapy. Blood 130(18):2027-2031

  17. Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C (2017) Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol. 74(7):806-812

  18. Navarro A, Clot G, Martínez-Trillos A, Pinyol M, Jares P, González-Farré B, Martínez D, Trim N, Fernández V, Villamor N, Colomer D, Costa D, Salaverria I, Martín-Garcia D, Erber W, López C, Jayne S, Siebert R, Dyer MJS, Wiestner A, Wilson WH, Aymerich M, López-Guillermo A, Sánchez À, Campo E, Matutes E, Beà S. (2017) Improved classification of leukemic B-cell lymphoproliferative disorders using a transcriptional and genetic classifier. Haematologica. 102(9):e360-e363

  19. Netzer NC, Strohl KP, Högel J, Gatterer H, Schilz R. (2017) Right ventricle dimensions and function in response to acute hypoxia in healthy human subjects. Acta Physiol (Oxf). 219(2):478-485

  20. Nunziata A, Borck G, Funcke JB, Kohlsdorf K, Brandt S, Hinney A, Moepps B, Gierschik P, Debatin KM, Fischer-Posovszky P, Wabitsch M (2017) Estimated prevalence of potentially damaging variants in the leptin gene. Mol Cell Pediatr.4(1):10

  21. Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD. (2017) Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma. Cancer Res. 77(16):4517-4529

  22. Rohde M, Bonn BR, Zimmermann M, Lange J, Möricke A, Klapper W, Oschlies I, Szczepanowski M, Nagel I, Schrappe M; MMML-MYC-SYS Project; ICGC MMML-Seq Project, Loeffler M, Siebert R, Reiter A, Burkhardt B. (2017) Relevance of ID3-TCF3-CCND3 pathway mutations in pediatric aggressive B-cell lymphoma treated according to the non-Hodgkin Lymphoma Berlin-Frankfurt-Münster protocols. Haematologica. 102(6):1091-1098

  23. Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J1, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. (2017) EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Hum Mutat. 38(4):409-425

  24. Schmäh J, Fedders B, Panzer-Grümayer R, Fischer S, Zimmermann M, Dagdan E, Bens S, Schewe D, Moericke A, Alten J, Bleckmann K, Siebert R, Schrappe M, Stanulla M, Cario G. (2017) Molecular characterization of acute lymphoblastic leukemia with high CRLF2 gene expression in childhood. Pediatr Blood Cancer. 64(10)

  25. Smirin-Yosef P, Zuckerman-Levin N, Tzur S, Granot Y, Cohen L, Sachsenweger J, Borck G, Lagovsky I, Salmon-Divon M, Wiesmüller L, Basel-Vanagaite L (2017)A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. J Clin Endocrinol Metab. 102(2):681-688

  26. Sowada N, Hashem MO, Yilmaz R, Hamad M, Kakar N, Thiele H, Arold ST, Bode H, Alkuraya FS, Borck G (2017) Mutations of PTPN23 in developmental and epileptic encephalopathy. Hum Genet. 136(11-12):1455-1461

  27. Steinacker P, Huss A, Mayer B, Grehl T, Grosskreutz J, Borck G, Kuhle J, Lulé D, Meyer T, Oeckl P, Petri S, Weishaupt J, Ludolph AC, Otto M (2017) Diagnostic and prognostic significance of neurofilament light chain NF-L, but not progranulin and S100B, in the course of amyotrophic lateral sclerosis: Data from the German MND-net Amyotroph Lateral Scler Frontotemporal Degener 18(1-2):112-119

  28. Szczepanowski M, Lange J, Kohler CW, Masque-Soler N, Zimmermann M, Aukema SM, Altenbuchinger M, Rehberg T, Mahn F, Siebert R, Spang R, Burkhardt B, Klapper W. Cell-of-origin classification by gene expression and MYC-rearrangements in diffuse large B-cell lymphoma of children and adolescents. Br J Haematol. 179(1):116-119

  29. Taylor AE, Martin RM, Geybels MS, Stanford JL, Shui I, Eeles R, Easton D, Kote-Jarai Z, Amin Al Olama A, Benlloch S Muir K, Giles GG, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal D, Pashayan N, Khaw KT, Blot W, Thibodeau S, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park J, Kaneva R, Batra J, Teixeira MR, Pandha H; PRACTICAL Consortium, Donovan J, Munafò MR. (2017) Investigating the possible causal role of coffee consumption with prostate cancer risk and progression using Mendelian randomization analysis. Int J Cancer 140(2):322-328

  30. Varano G, Raffel S, Sormani M, Zanardi F, Lonardi S, Zasada C, Perucho L, Petrocelli V, Haake A, Lee AK, Bugatti M, Paul U, Van Anken E, Pasqualucci L, Rabadan R, Siebert R, Kempa S, Ponzoni M, Facchetti F, Rajewsky K, Casola S. The B-cell receptor controls fitness of MYC-driven lymphoma cells via GSK3β inhibition. Nature.;546(7657):302-306.

  31. Wahl S, Drong A, Lehne B, Loh M, Scott WR Kunze S Tsai PC, Ried JS, Zhang W Yang Y, Tan S, Fiorito G Franke L, Guarrera S Kasela S Kriebel J, Richmond RC, Adamo M, Afzal U Ala-Korpela M, Albetti B, Ammerpohl O, Apperley JF, Beekman M, Bertazzi PA, Black SL, Blancher C, Bonder MJ, Brosch M, Carstensen-Kirberg M de Craen AJ, de Lusignan S, Dehghan A, Elkalaawy M Fischer K, Franco OH, Gaunt TR, Hampe J, Hashemi M, Isaacs A, Jenkinson A, Jha S, Kato N, Krogh V, Laffan M, Meisinger C, Meitinger T, Mok ZY, Motta V, Ng HK, Nikolakopoulou Z, Nteliopoulos G, Panico S, Pervjakova N Prokisch H Rathmann W, Roden M, Rota F, Rozario MA, Sandling JK Schafmayer C, Schramm K Siebert R Slagboom PE, Soininen P Stolk L, Strauch K Tai ES, Tarantini L, Thorand B Tigchelaar EF, Tumino R, Uitterlinden AG, van Duijn C, van Meurs JB, Vineis P Wickremasinghe AR, Wijmenga C, Yang TP, Yuan W Zhernakova A, Batterham RL Smith GD, Deloukas P, Heijmans BT, Herder C Hofman A, Lindgren CM Milani L, van der Harst P, Peters A, Illig T Relton CL, Waldenberger M Järvelin MR Bollati V, Soong R Spector TD, Scott J, McCarthy MI, Elliott P, Bell JT, Matullo G, Gieger C, Kooner JS, Grallert H, Chambers JC Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity. Nature. 541(7635):81-86

  32. Wurster KD, Hummel F, Richter J, Giefing M, Hartmann S, Hansmann ML, Kreher S, Köchert K, Krappmann D, Klapper W, Hummel M, Wenzel SS, Lenz G, Janz M, Dörken B, Siebert R, Mathas S (2017) Inactivation of the putative ubiquitin-E3 ligase PDLIM2 in classical Hodgkin and anaplastic large cell lymphoma. Leukemia. 31(3):602-613

  33. Zenz T, Kreuz M, Fuge M, Klapper W, Horn H, Staiger AM, Winter D, Helfrich H, Huellein J, Hansmann ML, Stein H, Feller A, Möller P, Schmitz N, Trümper L, Loeffler M, Siebert R, Rosenwald A, Ott G, Pfreundschuh M, Stilgenbauer S; German High-Grade Non-Hodgkin Lymphoma Study Group (DSHNHL). TP53 mutation and survival in aggressive B cell lymphoma. Int J Cancer. 141(7):1381-1388