Publikationen

Ambrozkiewicz MC, Borisova E, Schwark M, Ripamonti S, Schaub T, Smorodchenko A, Weber AI, Rhee HJ, Altas B, Yilmaz R, Mueller S, Piepkorn L, Horan ST, Straussberg R, Zaqout S, Jahn O, Dere E, Rosário M, Boehm-Sturm P, Borck G, Willig KI, Rhee J, Tarabykin V, Kawabe H (2020) The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc. Mol Psychiatry 26(6):1980-1995

Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson WD, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP (2020) Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. PLoS Genet 17(7):

Aukema SM, Croci GA, Bens S, Oehl-Huber K, Wagener R, Ott G, Rosenwald A, Kluin PM, van den Berg E, Bosga-Bouwer AG, Hoogendoorn M, Hoster E, Bittmann I, Nagel I, Murga Penas EM, Kreuz M, Bausinger J, Belder W, Oschlies I, Dyer MJS, Jayne S, Siebert R, Klapper W (2020) Mantle cell lymphomas with concomitant MYC and CCND1 breakpoints are recurrently TdT positive and frequently show high-grade pathological and genetic features. Virchows Arch 479(1):133-145

Bhat J, Bergmann AK, Waschina S, Nerl C, Kaleta C, Siebert R, Ammerpohl O, Kabelitz D (2020) DNA methylation profile of a hepatosplenic gamma/delta T-cell lymphoma patient associated with response to interferon-α therapy. Cell Mol Immunol 18(5):1332-1335

Buck S, Krauss C, Waldenmaier D, Liebing C, Jendrike N, Högel J, Pfeiffer BM, Haug C, Freckmann G (2020) Evaluation of Meal Carbohydrate Counting Errors in Patients with Type 1 Diabetes. Exp Clin Endocrinol Diabetes ():

Cardona Gloria Y, Bernhart SH, Fillinger S, Wolz OO, Dickhöfer S, Admard J, Ossowski S, Nahnsen S, Siebert R, Weber ANR (2020) Absence of Non-Canonical, Inhibitory MYD88 Splice Variants in B Cell Lymphomas Correlates With Sustained NF-κB Signaling. Front Immunol 12():

Coronel L, Riege K, Schwab K, Förste S, Häckes D, Semerau L, Bernhart SH, Siebert R, Hoffmann S, Fischer M (2020) Transcription factor RFX7 governs a tumor suppressor network in response to p53 and stress. Nucleic Acids Res 49(13):7437-7456

Danhof S, Rasche L, Mottok A, Steinmüller T, Zhou X, Schreder M, Kilian T, Strifler S, Rosenwald A, Hudecek M, Einsele H, Gerhard-Hartmann E (2020) Elotuzumab for the treatment of extramedullary myeloma: a retrospective analysis of clinical efficacy and SLAMF7 expression patterns. Ann Hematol 100(6):1537-1546

Dugge R, Wagener R, Mӧller P, Barth TFE (2020) Genome-wide DNA methylation analysis along the progression of gastric marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT) type. Br J Haematol 193(2):369-374

Duns G, Viganò E, Ennishi D, Sarkozy C, Hung SS, Chavez E, Takata K, Rushton C, Jiang A, Ben-Neriah S, Woolcock BW, Slack GW, Hsi ED, Craig JW, Hilton LK, Shah SP, Farinha P, Mottok A, Gascoyne RD, Morin RD, Savage KJ, Scott DW, Steidl C (2020) Characterization of DLBCL with a PMBL gene expression signature. Blood 138(2):136-148

Elgaafary S, López C, Nagel I, Vater I, Bens S, Szczepanowski M, Aukema SM, Wagener R, Hopp L, Binder H, de Leval L, Klapper W, Siebert R (2020) Molecular characterization of Burkitt lymphoma in the breast or ovary. Leuk Lymphoma 62(9):2120-2129

Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, Haack TB (2020) Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex. J Med Genet ():

Fozia F, Nazli R, Bibi N, Khan SA, Muhammad N, Shakeeb N, Khan S, Jelani M, Wasif N (2020) Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa. Front Pediatr 9():

Giannopoulou EZ, Zorn S, Schirmer M, Herrmann G, Heger S, Reinehr T, Denzer C, Rabenstein H, von Schnurbein J, Wabitsch M (2020) Monogenic obesity in children: focusing on SH2B1 deletion Horm Res Paediatr 94 Suppl 1(SUPPL 1):130-131

Goldmann T, Schmitt B, Müller J, Kröger M, Scheufele S, Marwitz S, Nitschkowski D, Schneider MA, Meister M, Muley T, Thomas M, Kugler C, Rabe KF, Siebert R, Reck M, Ammerpohl O (2020) DNA methylation profiles of bronchoscopic biopsies for the diagnosis of lung cancer. Clin Epigenetics 13(1):

Gouveia MH, Otim I, Ogwang MD, Wang M, Zhu B, Cole N, Luo W, Hicks B, Jones K, Oehl-Huber K, Ayers LW, Pittaluga S, Legason ID, Nabalende H, Kerchan P, Kinyera T, Kawira E, Brubaker G, Levin AG, Guertler L, Kim J, Stewart DR, Adde M, Magrath I, Bergen AW, Reynolds SJ, Yeager M, Bhatia K, Adeyemo AA, Prokunina-Olsson L, Dean M, Shriner D, Rotimi CN, Chanock S, Siebert R, Mbulaiteye SM (2020) Endemic Burkitt Lymphoma in second-degree relatives in Northern Uganda: in-depth genome-wide analysis suggests clues about genetic susceptibility. Leukemia 35(4):1209-1213

Horn H, Kalmbach S, Wagener R, Staiger AM, Hüttl K, Mottok A, Bens S, Traverse-Glehen A, Fontaine J, Siebert R, Rosenwald A, Ott G (2020) A Diagnostic Approach to the Identification of Burkitt-like Lymphoma With 11q Aberration in Aggressive B-Cell Lymphomas. Am J Surg Pathol 45(3):356-364

Hornig N, Kulle A, Dombrowsky G, Ammerpohl O, Caliebe A, Schweikert HU, Audi L, Cools M, Hannema S, Stuart AV, Werner R, Hiort O, Holterhus PM (2020) Androgen insensitivity without an androgen receptor mutation: results from a large cohort study Horm Res Paediatr 94 Suppl 1(SUPPL 1):149-150

Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium , ICGC DE-Mining consortium , BLUEPRINT consortium , Küppers R, Schlesner M, Siebert R (2020) Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia 35(7):2002-2016

Karlsson Q, Brook MN, Dadaev T, Wakerell S, Saunders EJ, Muir K, Neal DE, Giles GG, MacInnis RJ, Thibodeau SN, McDonnell SK, Cannon-Albright L, Teixeira MR, Paulo P, Cardoso M, Huff C, Li D, Yao Y, Scheet P, Permuth JB, Stanford JL, Dai JY, Ostrander EA, Cussenot O, Cancel-Tassin G, Hoegel J, Herkommer K, Schleutker J, Tammela TLJ, Rathinakannan V, Sipeky C, Wiklund F, Grönberg H, Aly M, Isaacs WB, Dickinson JL, FitzGerald LM, Chua MLK, Nguyen-Dumont T, PRACTICAL Consortium , Schaid DJ, Southey MC, Eeles RA, Kote-Jarai Z (2020) Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study. Eur Urol Oncol 4(4):570-579

Kordes U, Mautner VF, Oyen F, Hagel C, Hartmann C, Heuser M, Frühwald M, Hasselblatt M, Oehl-Huber K, Siebert R, Schneppenheim R, Schüller U (2020) Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6. Pediatr Blood Cancer 68(10):

Merkle J, Breunig M, Schmid M, Allgöwer C, Krüger J, Melzer MK, Bens S, Siebert R, Perkhofer L, Azoitei N, Seufferlein T, Heller S, Meier M, Müller M, Kleger A, Hohwieler M (2020) CDKN2A-Mutated Pancreatic Ductal Organoids from Induced Pluripotent Stem Cells to Model a Cancer Predisposition Syndrome. Cancers (Basel) 13(20):

Moulin C, Guillemin F, Remen T, Bouclet F, Hergalant S, Quinquenel A, Dartigeas C, Tausch E, Lazarian G, Blanchet O, Lomazzi S, Chapiro E, Schneider C, Nguyen-Khac F, Davi F, Hunault M, Tomowiak C, Roos-Weil D, Siebert R, Thieblemont C, Cymbalista F, Laribi K, Béné MC, Stilgenbauer S, Guièze R, Feugier P, Broséus J (2020) Clinical, biological, and molecular genetic features of Richter syndrome and prognostic significance: A study of the French Innovative Leukemia Organization. Am J Hematol 96(9):E311-E314

Nemes K, Bens S, Kachanov D, Teleshova M, Hauser P, Simon T, Tippelt S, Woessmann W, Beck O, Flotho C, Grigull L, Driever PH, Schlegel PG, Khurana C, Hering K, Kolb R, Leipold A, Abbink F, Gil-Da-Costa MJ, Benesch M, Kerl K, Lowis S, Marques CH, Graf N, Nysom K, Vokuhl C, Melchior P, Kröncke T, Schneppenheim R, Kordes U, Gerss J, Siebert R, Furtwängler R, Frühwald MC (2020) Clinical and genetic risk factors define two risk groups of extracranial malignant rhabdoid tumours (eMRT/RTK). Eur J Cancer 142():112-122

Pasternack H, Kuempers C, Deng M, Watermann I, Olchers T, Kuehnel M, Jonigk D, Kugler C, Stellmacher F, Goldmann T, Kirfel J, Ammerpohl O, Perner S, Reck M (2020) Identification of molecular signatures associated with early relapse after complete resection of lung adenocarcinomas. Sci Rep 11(1):

Pathak R, Zin F, Thomas C, Bens S, Gayden T, Karamchandani J, Dudley RW, Nemes K, Johann PD, Oyen F, Kordes U, Jabado N, Siebert R, Paulus W, Kool M, Frühwald MC, Albrecht S, Kalpana GV, Hasselblatt M (2020) Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors. Acta Neuropathol (Berl) 142(2):361-374

Richter J, John K, Staiger AM, Rosenwald A, Kurz K, Michgehl U, Ott G, Franzenburg S, Kohler C, Finger J, Oschlies I, Paul U, Siebert R, Spang R, Burkhardt B, Klapper W (2020) Epstein-Barr virus status of sporadic Burkitt lymphoma is associated with patient age and mutational features. Br J Haematol ():

Sarkozy C, Hung SS, Chavez EA, Duns G, Takata K, Chong LC, Aoki T, Jiang A, Miyata-Takata T, Telenius A, Slack GW, Molina TJ, Ben-Neriah S, Farinha P, Dartigues P, Damotte D, Mottok A, Salles GA, Casasnovas RO, Savage KJ, Laurent C, Scott DW, Traverse-Glehen A, Steidl C (2020) Mutational landscape of gray zone lymphoma. Blood 137(13):1765-1776

Schaid DJ, McDonnell SK, FitzGerald LM, DeRycke L, Fogarty Z, Giles GG, MacInnis RJ, Southey MC, Nguyen-Dumont T, Cancel-Tassin G, Cussenot O, Whittemore AS, Sieh W, Ioannidis NM, Hsieh CL, Stanford JL, Schleutker J, Cropp CD, Carpten J, Hoegel J, Eeles R, Kote-Jarai Z, Ackerman MJ, Klein CJ, Mandal D, Cooney KA, Bailey-Wilson JE, Helfand B, Catalona WJ, Wiklund F, Riska S, Bahetti S, Larson MC, Cannon Albright L, Teerlink C, Xu J, Isaacs W, Ostrander EA, Thibodeau SN (2020) Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer. Eur Urol 79(3):353-361

Steinbügl M, Nemes K, Johann P, Kröncke T, Tüchert S, da Costa MJG, Ebinger M, Schüller U, Sehested A, Hauser P, Reinhard H, Sumerauer D, Hettmer S, Jakob M, Hasselblatt M, Siebert R, Witt O, Gerss J, Kerl K, Frühwald MC (2020) Clinical evidence for a biological effect of epigenetically active decitabine in relapsed or progressive rhabdoid tumors. Pediatr Blood Cancer 68(12):

Thomas C, Federico A, Sill M, Bens S, Oyen F, Nemes K, Johann PD, Hartmann C, Hartmann W, Sumerauer D, Paterno V, Samii A, Kordes U, Siebert R, Frühwald MC, Paulus W, Kool M, Hasselblatt M (2020) Atypical Teratoid/Rhabdoid Tumor (AT/RT) With Molecular Features of Pleomorphic Xanthoastrocytoma. Am J Surg Pathol 45(9):1228-1234

Thomas C, Oehl-Huber K, Bens S, Soschinski P, Koch A, Nemes K, Oyen F, Kordes U, Kool M, Frühwald MC, Hasselblatt M, Siebert R (2020) Transposable element insertion as a mechanism of SMARCB1 inactivation in atypical teratoid/rhabdoid tumor. Genes Chromosomes Cancer 60(8):586-590

Thomas C, Soschinski P, Zwaig M, Oikonomopoulos S, Okonechnikov K, Pajtler KW, Sill M, Schweizer L, Koch A, Neumann J, Schüller U, Sahm F, Rauschenbach L, Keyvani K, Proescholdt M, Riemenschneider MJ, Segewiß J, Ruckert C, Grauer O, Monoranu CM, Lamszus K, Patrizi A, Kordes U, Siebert R, Kool M, Ragoussis J, Foulkes WD, Paulus W, Rivera B, Hasselblatt M (2020) The genetic landscape of choroid plexus tumors in children and adults. Neuro-oncol 23(4):650-660

Thurner L, Hartmann S, Bewarder M, Fadle N, Regitz E, Schormann C, Quiroga N, Kemele M, Klapper W, Rosenwald A, Trümper L, Bohle RM, Nimmesgern A, Körbel C, Laschke MW, Menger MD, Barth S, Kubuschok B, Mottok A, Kaddu-Mulindwa D, Hansmann ML, Pöschel V, Held G, Murawski N, Stilgenbauer S, Neumann F, Preuss KD, Pfreundschuh M (2020) Identification of the atypically modified autoantigen Ars2 as the target of B-cell receptors from activated B-cell-type diffuse large B-cell lymphoma. Haematologica 106(8):2224-2232

Wurster KD, Costanza M, Kreher S, Glaser S, Lamprecht B, Schleussner N, Anagnostopoulos I, Hummel M, Jöhrens K, Stein H, Molina A, Diepstra A, Gillissen B, Köchert K, Siebert R, Merkel O, Kenner L, Janz M, Mathas S (2020) Aberrant Expression of and Cell Death Induction by Engagement of the MHC-II Chaperone CD74 in Anaplastic Large Cell Lymphoma (ALCL). Cancers (Basel) 13(19):

Xiao Y, Qureischi M, Dietz L, Vaeth M, Vallabhapurapu SD, Klein-Hessling S, Klein M, Liang C, König A, Serfling E, Mottok A, Bopp T, Rosenwald A, Buttmann M, Berberich I, Beilhack A, Berberich-Siebelt F (2020) Lack of NFATc1 SUMOylation prevents autoimmunity and alloreactivity. J Exp Med 218(1):

Adams CD, Richmond R, Ferreira DLS, Spiller W, Tan V, Zheng J, Würtz P, Donovan J, Hamdy F, Neal D, Lane JA, Smith GD, Relton C, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Olama AAA, Benlloch S, Muir K, Berndt SI, Conti DV, Wiklund F, Chanock SJ, Gapstur S, Stevens VL, Tangen CM, Batra J, Clements JA, Gronberg H, Pashayan N, Schleutker J, Albanes D, Wolk A, West CML, Mucci LA, Cancel-Tassin G, Koutros S, Sorensen KD, Maehle L, Travis RC, Hamilton RJ, Ingles SA, Rosenstein BS, Lu YJ, Giles GG, Kibel AS, Vega A, Kogevinas M, Penney KL, Park JY, Stanford JL, Cybulski C, Nordestgaard BG, Brenner H, Maier C, Kim J, John EM, Teixeira MR, Neuhausen SL, De Ruyck K, Razack A, Newcomb LF, Lessel D, Kaneva RP, Usmani N, Claessens F, Townsend PA, Dominguez MG, Roobol MJ, Menegaux F, Khaw KT, Cannon-Albright LA, Pandha H, Thibodeau SN, Martin RM, PRACTICAL Consortium Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study Cancer Epidemiol Biomarkers Prev 2019 28(1): 208-216

Albrecht F, Mueller K, Ballarini T, Lampe L, Diehl-Schmid J, Fassbender K, Fliessbach K, Jahn H, Jech R, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Ludolph AC, yros E, Prudlo J, Schneider A, Synofzik M, Wiltfang J, Danek A, Otto M, FTLD-Consortium , Schroeter ML Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging Cortex 2019 117: 33-40

Amador C, Greiner T, Galvis Castro KTG, Smith L, Heavican T, Rosenwald A, Ott G, D'Amore F, Mottok A, Feldman A, Ondrejka S, Campo E, Vose J, Weisenburger D, Chan WC, Iqbal J Reproducible Morphologic Features of Molecularly Defined Subgroups of Peripheral T-Cell Lymphoma, Not Otherwise Specified Lab Invest 201999

Amador C, Greiner TC, Heavican TB, Smith LM, Galvis KT, Lone W, Bouska A, D'Amore F, Pedersen MB, Pileri S, Agostinelli C, Feldman AL, Rosenwald A, Ott G, Mottok A, Savage KJ, de Leval L, Gaulard P, Lim ST, Ong CK, Ondrejka SL, Song J, Campo E, Jaffe ES, Staudt LM, Rimsza LM, Vose J, Reproducing the molecular subclassification of peripheral T-cell lymphoma-NOS by immunohistochemistry. Blood 2019 176(1):187-193

Apellániz-Ruiz M, Segni M, Kettwig M, Glüer S, Pelletier D, Nguyen VH, Wagener R, López C, Muchantef K, Bouron-Dal Soglio D, Sabbaghian N, Wu MK, Zannella S, Fabian MR, Siebert R, Menke J, Priest JR, Foulkes WD Mesenchymal Hamartoma of the Liver and DICER1 Syndrome N Engl J Med 2019380(19): 1834-1842

Bergmann AK, Fataccioli V, Castellano G, Martin-Garcia N, Pelletier L, Ammerpohl O, Bergmann J, Bhat J, Pau ECS, Martín-Subero JI, Moffitt AB, Valencia A, Oberg HH, Wesch D, Jayne S, Dyer MJS, Kabelitz D, Gaulard P, Siebert R DNA methylation profiling of hepatosplenic T-cell lymphoma Haematologica 2019104(3): e104-e107

Bick U, Engel C, Krug B, Heindel W, FallenberZ EM, Rhiem K, Maintz D, Golatta M, Speiser D, Rjosk-Dendorfer D, Lämmer-Skarke I, Dietzel F, Schäfer KWF, Leinert E, Weigel S, Sauer S, Pertschy S, Hofmockel T, Hagert-Winkler A, Kast K, Quante A, Meindl A, Kiechle M, Loeffler M, Schmutzler RK, German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer. Breast Cancer Res Treat 2019175(1): 217-228

Daria T, Müller K, Oidovdorj G, Baatar K, Boldbaatar P, Sarangerel J, Rentsenbat M, Turbat S, Yadamsuren E, Weydt P, Dambasuren B, Bosookhuu O, Banzrai C, Damchaa B, Pinkhardt EH, Rosenbohm A, Högel J, Andersen P, Borck G, Batmunkh M, Ludolph AC, Weishaupt JH Genotypes of amyotrophic lateral sclerosis in Mongolia J Neurol Neurosurg Psychiatry 201990(11): 1300-1302

de Kock L, Hillmer M, Wagener R, Soglio DB, Sabbaghian N, Siebert R, Priest JR, Miller M, Foulkes WD Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome Genes Chromosomes Cancer58(8): 602-604

De Franco E, Watson RA, Weninger WJ, Wong CC, Flanagan SE, Caswell R, Green A, Tudor C, Lelliott CJ, Geyer SH, Maurer-Gesek B, Reissig LF, Lango Allen H, Caliebe A, Siebert R, Holterhus PM, Deeb A, Prin F, Hilbrands R, Heimberg H, Ellard S, Hattersley AT, Barroso I Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. Am J Hum Genet 2019. 104(5): 985-989

Dyke SOM, Saulnier KM, Dupras C, Webster AP, Maschke K, Rothstein M, Siebert R, Walter J, Beck S, Pastinen T, Joly Y Points-to-consider on the return of results in epigenetic research Genome Med 201911(1)

Ennishi D, Jiang A, Boyle M, Collinge B, Grande BM, Ben-Neriah S, Rushton C, Tang J, Thomas N, Slack GW, Farinha P, Takata K, Miyata-Takata T, Craig J, Mottok A, Meissner B, Saberi S, Bashashati A, Villa D, Savage KJ, Sehn LH, Kridel R, Mungall AJ, Marra MA, Shah SP, Steidl C, Connors JM, Gascoyne RD, Morin RD, Scott DW Double-Hit Gene Expression Signature Defines a Distinct Subgroup of Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma J Clin Oncol 201937(3): 190-201

Ennishi D, Takata K, Béguelin W, Duns G, Mottok A, Farinha P, Bashashati A, Saberi S, Boyle M, Meissner B, Ben-Neriah S, Woolcock BW, Telenius A, Lai D, Teater M, Kridel R, Savage KJ, Sehn LH, Morin RD, Marra MA, Shah SP, Connors JM, Gascoyne RD, Scott DW, Melnick AM, Steidl C Molecular and Genetic Characterization of MHC Deficiency Identifies EZH2 as Therapeutic Target for Enhancing Immune Recognition. Cancer Discov 20199(4): 546-563

Giesselmann P, Brändl B, Raimondeau E, Bowen R, Rohrandt C, Tandon R, Kretzmer H, Assum G, Galonska C, Siebert R, Ammerpohl O, Heron A, Schneider SA, Ladewig J, Koch P, Schuldt BM, Graham JE, Meissner A, Müller FJ Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing Nat Biotechnol 201937(12): 1478-1481

Hartmann S, Plütschow A, Mottok A, Bernd HW, Feller AC, Ott G, Cogliatti S, Fend F, Quintanilla-Martinez L, Stein H, Klapper W, Möller P, Rosenwald A, Engert A, Hansmann ML, Eichenauer DA The time to relapse correlates with the histopathological growth pattern in nodular lymphocyte predominant Hodgkin lymphoma Am J Hematol (2019)94(11): 1208-1213

Hein TM, Sander P, Giryes A, Reinhardt JO, Hoegel J, Schneider EM Cytokine Expression Patterns and Single Nucleotide Polymorphisms (SNPs) in Patients with Chronic Borreliosis. Antibiotics (Basel) 2019 8(3)

Hoff K, Lemme M, Kahlert AK, Runde K, Audain E, Schuster D, Scheewe J, Attmann T, Pickardt T, Caliebe A, Siebert R, Kramer HH, Milting H, Hansen A, Ammerpohl O, Hitz MP DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs Clin Epigenetics 201911(1)

Hornig NC, Demiri J, Rodens P, Murga Penas EM, Caliebe A, Eckstein AK, Schweikert HU, Audi L, Hiort O, Werner R, Kulle AE, Ammerpohl O, Holterhus PM Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY MosaicismJ Clin Endocrinol Metab 2019104(10): 4630-4638

Hüllein J, Słabicki M, Rosolowski M, Jethwa A, Habringer S, Tomska K, Kurilov R, Lu J, Scheinost S, Wagener R, Huang Z, Lukas M, Yavorska O, Helfrich H, Scholtysik R, Bonneau K, Tedesco D, Küppers R, Klapper W, Pott C, Stilgenbauer S, Burkhardt B, Löffler M, Trümper LH, Hummel M, Brors B, Zapatka M, Siebert R, Kreuz M, Keller U, Huber W, Zenz T MDM4 Is Targeted by 1q Gain and Drives Disease in Burkitt Lymphoma. Cancer Res 201979(12): 3125-3138

Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Batra J, Beckmann MW, Benitez J, Benlloch S, Berchuck A, Berndt SI, Bickeböller H, Bien SA, Blomqvist C, Boccia S, Bogdanova NV, Bojesen SE, Bolla MK, Brauch H, Brenner H, Brenton JD, Brook MN, Brunet J, Brunnström H, Buchanan DD, Burwinkel B, Butzow R, Cadoni G, Caldes T, Caligo MA, Campbell I, Campbell PT, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho AL, Chan AT, Chang-Claude J, Chanock SJ, Chen C, Christiani DC, Claes KBM, Claessens F, Clements J, Collée JM, Correa MC, Couch FJ, Cox A, Cunningham JM, Cybulski C, Czene K, Daly MB, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan JL, Dörk T, Duell EJ, Dunning AM, Dwek M, Eccles DM, Edlund CK, Edwards DRV, Ellberg C, Evans DG, Fasching PA, Ferris RL, Liloglou T, Figueiredo JC, Fletcher O, Fortner RT, Fostira F, Franceschi S, Friedman E, Gallinger SJ, Ganz PA, Garber J, García-Sáenz JA, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, Goode EL, Goodman MT, Goodman G, Grankvist K, Greene MH, Gronberg H, Gronwald J, Guénel P, Håkansson N, Hall P, Hamann U, Hamdy FC, Hamilton RJ, Hampe J, Haugen A, Heitz F, Herrero R, Hillemanns P, Hoffmeister M, Høgdall E, Hong YC, Hopper JL, Houlston R, Hulick PJ, Hunter DJ, Huntsman DG, Idos G, Imyanitov EN, Ingles SA, Isaacs C, Jakubowska A, James P, Jenkins MA, Johansson M, Johansson M, John EM, Joshi AD, Kaneva R, Karlan BY, Kelemen LE, Kühl T, Khaw KT, Khusnutdinova E, Kibel AS, Kiemeney LA, Kim J, Kjaer SK, Knight JA, Kogevinas M, Kote-Jarai Z, Koutros S, Kristensen VN, Kupryjanczyk J, Lacko M, Lam S, Lambrechts D, Landi MT, Lazarus P, Le ND, Lee E, Lejbkowicz F, Lenz HJ, Leslie G, Lessel D, Lester J, Levine DA, Li L, Li CI, Lindblom A, Lindor NM, Liu G, Loupakis F, Lubi?ski J, Maehle L, Maier C, Mannermaa A, Marchand LL, Margolin S, May T, McGuffog L, Meindl A, Middha P, Miller A, Milne RL, MacInnis RJ, Modugno F, Montagna M, Moreno V, Moysich KB, Mucci L, Muir K, Mulligan AM, Nathanson KL, Neal DE, Ness AR, Neuhausen SL, Nevanlinna H, Newcomb PA, Newcomb LF, Nielsen FC, Nikitina-Zake L, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olama AAA, Olopade OI, Olshan AF, Olsson H, Osorio A, Pandha H, Park JY, Pashayan N, Parsons MT, Pejovic T, Penney KL, Peters WHM, Phelan CM, Phipps AI, Plaseska-Karanfilska D, Pring M, Prokofyeva D, Radice P, Stefansson K, Ramus SJ, Raskin L, Rennert G, Rennert HS, van Rensburg EJ, Riggan MJ, Risch HA, Risch A, Roobol MJ, Rosenstein BS, Rossing MA, De Ruyck K, Saloustros E, Sandler DP, Sawyer EJ, Schabath MB, Schleutker J, Schmidt MK, Setiawan VW, Shen H, Siegel EM, Sieh W, Singer CF, Slattery ML, Sorensen KD, Southey MC, Spurdle AB, Stanford JL, Stevens VL, Stintzing S, Stone J, Sundfeldt K, Sutphen R, Swerdlow AJ, Tajara EH, Tangen CM, Tardón A, Taylor JA, Teare MD, Teixeira MR, Terry MB, Terry KL, Thibodeau SN, Thomassen M, Bjørge L, Tischkowitz M, Toland AE, Torres D, Townsend PA, Travis RC, Tung N, Tworoger SS, Ulrich CM, Usmani N, Vachon CM, Van Nieuwenhuysen E, Vega A, Aguado-Barrera ME, Wang Q, Webb PM, Weinberg CR, Weinstein S, Weissler MC, Weitzel JN, West CML, White E, Whittemore AS, Wichmann HE, Wiklund F, Winqvist R, Wolk A, Woll P, Woods M, Wu AH, Wu X, Yannoukakos D, Zheng W, Zienolddiny S, Ziogas A, Zorn KK, Lane JM, Saxena R, Thomas D, Hung RJ, Diergaarde B, McKay J, Peters U, Hsu L, García-Closas M, Eeles RA, Chenevix-Trench G, Brennan PJ, Haiman CA, Simard J, Easton DF, Gruber SB, Pharoah PDP, Price AL, Pasaniuc B, Amos CI, Kraft P, Lindström S Shared heritability and functional enrichment across six solid cancers Nat Commun 201910(1): 431

Kuhlen M, Taeubner J, Brozou T, Wieczorek D, Siebert R, Borkhardt A Family-based germline sequencing in children with cancer Oncogene 201938(9): 1367-1380

Law PJ, Timofeeva M, Fernandez-Rozadilla C, Broderick P, Studd J, Fernandez-Tajes J, Farrington S, Svinti V, Palles C, Orlando G, Sud A, Holroyd A, Penegar S, Theodoratou E, Vaughan-Shaw P, Campbell H, Zgaga L, Hayward C, Campbell A, Harris S, Deary IJ, Starr J, Gatcombe L, Pinna M, Briggs S, Martin L, Jaeger E, Sharma-Oates A, East J, Leedham S, Arnold R, Johnstone E, Wang H, Kerr D, Kerr R, Maughan T, Kaplan R, Al-Tassan N, Palin K, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Buchanan DD, Win AK, Hopper J, Jenkins ME, Lindor NM, Newcomb PA, Gallinger S, Duggan D, Casey G, Hoffmann P, Nöthen MM, Jöckel KH, Easton DF, Pharoah PDP, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N, PRACTICAL Consortium , Harkin A, Allan K, McQueen J, Paul J, Iveson T, Saunders M, Butterbach K, Chang-Claude J, Hoffmeister M, Brenner H, Kirac I, Matošević P, Hofer P, Brezina S, Gsur A, Cheadle JP, Aaltonen LA, Tomlinson I, Houlston RS, Dunlop MG Association analyses identify 31 new risk loci for colorectal cancer susceptibility Nat Commun 201910(1)

Loeffler-Wirth H, Kreuz M, Hopp L, Arakelyan A, Haake A, Cogliatti SB, Feller AC, Hansmann ML, Lenze D, Möller P, Müller-Hermelink HK, Fortenbacher E, Willscher E, Ott G, Rosenwald A, Pott C, Schwaenen C, Trautmann H, Wessendorf S, Stein H, Szczepanowski M, Trümper L, Hummel M, Klapper W, Siebert R, Loeffler M, Binder H, German Cancer Aid consortium Molecular Mechanisms for Malignant Lymphoma A modular transcriptome map of mature B cell lymphomas Genome Med 201911(1)

López C, Kleinheinz K, Aukema SM, Rohde M, Bernhart SH, Hübschmann D, Wagener R, Toprak UH, Raimondi F, Kreuz M, Waszak SM, Huang Z, Sieverling L, Paramasivam N, Seufert J, Sungalee S, Russell RB, Bausinger J, Kretzmer H, Ammerpohl O, Bergmann AK, Binder H, Borkhardt A, Brors B, Claviez A, Doose G, Feuerbach L, Haake A, Hansmann ML, Hoell J, Hummel M, Korbel JO, Lawerenz C, Lenze D, Radlwimmer B, Richter J, Rosenstiel P, Rosenwald A, Schilhabel MB, Stein H, Stilgenbauer S, Stadler PF, Szczepanowski M, Weniger MA, Zapatka M, Eils R, Lichter P, Loeffler M, Möller P, Trümper L, Klapper W, ICGC MMML-Seq Consortium , Hoffmann S, Küppers R, Burkhardt B, Schlesner M, Siebert R Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma. Nat Commun 201910(1): 1459

Loveday C, Sud A, Litchfield K, Levy M, Holroyd A, Broderick P, Kote-Jarai Z, Dunning AM, Muir K, Peto,PRACTICAL Consortium , Reid A, Huddart RA, Houlston RS, Turnbull C Runs of homozygosity and testicular cancer risk. Neuropathol Appl Neurobiol. 7(4): 555-564

Lima Cunha D, Alakloby OM, Gruber R, Kakar N, Ahmad J, Alawbathani S, Plank R, Eckl K, Krabichler B, Altmüller J, Nürnberg P, Zschocke J, Borck G, Schmuth M, Alabdulkareem AS, Abdulaziz Alnutaifi K, Hennies HC Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan Mol Genet Genomic Med 20197(3)

Martín-Garcia D, Navarro A, Valdés-Mas R, Clot G, Gutiérrez-Abril J, Prieto M, Ribera-Cortada I, Woroniecka R, Rymkiewicz G, Bens S, de Leval L, Rosenwald A, Ferry JA, Hsi ED, Fu K, Delabie J, Weisenburger D, de Jong D, Climent F, O'Connor SJ, Swerdlow SH, Torrents D, Beltran S, Espinet B, Gonzalez-Farre B, Veloza L, Costa D, Matutes E, Siebert R, Ott G, Quintanilla-Martinez L, Jaffe ES, López-Otín C, Salaverria I, Puente XS, Campo E, Beà S CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1 - mantle cell lymphoma Blood 2019 133(9): 940-951

Martin-Guerrero I, Salaverria I, Burkhardt B, Chassagne-Clement C, Szczepanowski M, Bens S, Klapper W, Zimmermann M, Kabickova E, Bertrand Y, Reiter A, Siebert R, Oschlies I WD Non-leukemic pediatric mixed phenotype acute leukemia/lymphoma: Genomic characterization and clinical outcome in a prospective trial for pediatric lymphoblastic lymphoma Genes Chromosomes Cancer58(6): 365-372

Mellert K, Martin M, Lennerz JK, Lüdeke M, Staiger AM, Kreuz M, Löffler M, Schmitz N, Trümper L, Feller AC, Hartmann S, Hansmann ML, Klapper W, Stein H, Rosenwald A, Ott G, Ziepert M, Möller P The impact of SOCS1 mutations in diffuse large B-cell lymphoma Br J Haematol 2019187(5): 627-637

Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M VDominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling Hum Mol Genet 201928(6): 1007-1022

Mottok A, Hung SS, Chavez EA, Woolcock B, Telenius A, Chong LC, Meissner B, Nakamura H, Rushton C, Viganò E, Sarkozy C, Gascoyne RD, Connors JM, Ben-Neriah S, Mungall A, Marra MA, Siebert R, Scott DW, Savage KJ, Steidl C Integrative genomic analysis identifies key pathogenic mechanisms in primary mediastinal large B-cell lymphoma. Blood 2019 134(10): 802-813.

Mundo L, Ambrosio MR, Raimondi F, Del Porro L, Guazzo R, Mancini V, Granai M, Jim Rocca B, López C, Bens S, Onyango N, Nyagol J, Abinya N, Navari M, Ndede I, Patel K, Paolo Piccaluga P, Bob R, de Santi MM, Russell RB, Lazzi S, Siebert R, Stein H, Leoncini L Molecular switch from MYC to MYCN expression in MYC protein negative Burkitt lymphoma cases.. Blood Cancer J 20199(12)

Mur P, Sowada N, Bellido F, Lazaro C, Pons T, Valdes-Mas R, Pineda M, Aiza G, Iglesias S, Soto J, Urioste M, Caldes T, Balbin M, Blay P, Rueda D, Duran M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capella G, Valle L BRF1, a new gene associated with hereditary colorectal cancer Eur J Hum Genet 201927: 430-430

Németh CG, Röcken C, Siebert R, Wiltfang J, Ammerpohl O, Gassling V Recurrent chromosomal and epigenetic alterations in oral squamous cell carcinoma and its putative premalignant condition oral lichen planus. PLoS ONE 201914(4)

Nitschkowski D, Marwitz S, Kotanidou SA, Reck M, Kugler C, Rabe KF, Ammerpohl O, Goldmann T Live and let die: epigenetic modifications of Survivin and Regucalcin in non-small cell lung cancer tissues contribute to malignancy Clin Epigenetics 201911(1)

Nunziata A, Funcke JB, Borck G, von Schnurbein J, Brandt S, Lennerz B, Moepps B, Gierschik P, Fischer-Posovszky P, Wabitsch M Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations J Endocr Soc 20193(1): 27-41

Paczkowska J, Soloch N, Bodnar M, Kiwerska K, Janiszewska J, Vogt J, Domanowska E, Martín-Subero JI, Ammerpohl O, Klapper W, Marszalek A, Siebert R, Giefing M Expression of ELF1, a lymphoid ETS domain-containing transcription factor, is recurrently lost in classical Hodgkin lymphoma. Br J Haematol 2019185(1): 79-88

Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir TS, von Kodolitsch Y, Kutsche K, Rosenberger G Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet Med 201921(8): 1832-1841

Rosenwald A, Bens S, Advani R, Barrans S, Copie-Bergman C, Elsensohn MH, Natkunam Y, Calaminici M, Sander B, Baia M, Smith A, Painter D, Pham L, Zhao S, Ziepert M, Jordanova ES, Molina TJ, Kersten MJ, Kimby E, Klapper W, Raemaekers J, Schmitz N, Jardin F, Stevens WBC, Hoster E, Hagenbeek A, Gribben JG, Siebert R, Gascoyne RD, Scott DW, Gaulard P, Salles G, Burton C, de Jong D, Sehn LH, Maucort-Boulch D Prognostic Significance of MYC Rearrangement and Translocation Partner in Diffuse Large B-Cell Lymphoma: A Study by the Lunenburg Lymphoma Biomarker Consortium J Clin Oncol 201937(35): 3359-3368

Sarkozy C, Copie-Bergman C, Damotte D, Ben-Neriah S, Burroni B, Cornillon J, Lemal R, Golfier C, Fabiani B, Chassagne-Clement C, Parrens M, Herbaux C, Xerri L, Bossard C, Laurent C, Cheminant M, Cartron G, Cabeçadas J, Molina T, Salles G, Steidl C, Ghesquières H, Mottok A, Traverse-Glehen A Gray-zone Lymphoma Between cHL and Large B-Cell Lymphoma: A Histopathologic Series From the LYSA. Am J Surg Pathol 2019. 43(3): 341-351

Silva A, Bassim S, Sarkozy C, Mottok A, Lackraj T, Jurinovic V, Brodtkorb M, Lingjaerde OC, Sehn LH, Gascoyne RD, Weigert O, Steidl C, Kridel R Convergence of risk prediction models in follicular lymphoma Haematologica 2019104(3): e104-e107

Summerer A, Schäfer E, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletionsHum Genet 2019138(1): 73-81

Thomas C, Knerlich-Lukoschus F, Reinhard H, Johann PD, Sturm D, Sahm F, Bens S, Vogt J, Nemes K, Oyen F, Kordes U, Siebert R, Schneppenheim R, Messing-Jünger M, Pietsch T, von Deimling A, Paulus W, Pfister SM, Kool M, Frühwald MC, Hasselblatt M Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1. Acta Neuropathol (Berl) (2019) 37(5): 847-850

Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly Hum Genet 2019138(6): 593-600

Vogt J, Wagener R, Montesinos-Rongen M, Ammerpohl O, Paulus W, Deckert M, Siebert R Array-based profiling of the lymphoma cell DNA methylome does not unequivocally distinguish primary lymphomas of the central nervous system from non-CNS diffuse large B-cell lymphomas Genes Chromosomes Cancer58(1): 66-69

Wagener R, Seufert J, Raimondi F, Bens S, Kleinheinz K, Nagel I, Altmüller J, Thiele H, Hübschmann D, Kohler CW, Nürnberg P, Au-Yeung R, Burkhardt B, Horn H, Leoncini L, Jaffe ES, Ott G, Rymkiewicz G, Schlesner M, Russell RB, Klapper W, Siebert R The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma. Blood 2019 133(9): 962-966

Wahnschaffe L, Braun T, Timonen S, Giri AK, Schrader A, Wagle P, Almusa H, Johansson P, Bellanger D, López C, Haferlach C, Stern MH, Dürig J, Siebert R, Mustjoki S, Aittokallio T, Herling M JAK/STAT-Activating Genomic Alterations Are a Hallmark of T-PLLCancers 201911(12)

Zhang AW, O'Flanagan C, Chavez EA, Lim JLP, Ceglia N, McPherson A, Wiens M, Walters P, Chan T, Hewitson B, Lai D, Mottok A, Sarkozy C, Chong L, Aoki T, Wang X, Weng AP, McAlpine JN, Aparicio S, Steidl C, Campbell KR, Shah SP Probabilistic cell-type assignment of single-cell RNA-seq for tumor microenvironment profiling Nat Methods 201916(10): 1007-1015

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

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

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]

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]

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]

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

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]

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.

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

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

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

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)

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.

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

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.

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

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Hutter S, Piro RM, Waszak SM, Kehrer-Sawatzki H, Friedrich RE, Lassaletta A, Witt O, Korbel JO, Lichter P, Schuhmann MU, Pfister SM, Tabori U, Mautner VF, Jones DT. (2016) No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.Hum Genet. 135(5):469-75.

Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W. (2016) REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. Am J Hum Genet. 99(4):877-885

Kar SP, Beesley J, Amin Al Olama A, Michailidou K, Tyrer J, Kote-Jarai Z, Lawrenson K, Lindstrom S, Ramus SJ, Thompson DJ; ABCTB Investigators, Kibel AS, Dansonka-Mieszkowska A, Michael A, Dieffenbach AK, Gentry-Maharaj A, Whittemore AS, Wolk A, Monteiro A, Peixoto A, Kierzek A, Cox A, Rudolph A, Gonzalez-Neira A, Wu AH, Lindblom A, Swerdlow A; AOCS Study Group & Australian Cancer Study (Ovarian Cancer); APCB BioResource, Ziogas A, Ekici AB, Burwinkel B, Karlan BY, Nordestgaard BG, Blomqvist C, Phelan C, McLean C, Pearce CL, Vachon C, Cybulski C, Slavov C, Stegmaier C, Maier C, Ambrosone CB, Høgdall CK, Teerlink CC, Kang D, Tessier DC, Schaid DJ, Stram DO, Cramer DW, Neal DE, Eccles D, Flesch-Janys D, Edwards DR, Wokozorczyk D, Levine DA, Yannoukakos D, Sawyer EJ, Bandera EV, Poole EM, Goode EL, Khusnutdinova E, Høgdall E, Song F, Bruinsma F, Heitz F, Modugno F, Hamdy FC, Wiklund F, Giles GG, Olsson H, Wildiers H, Ulmer HU, Pandha H, Risch HA, Darabi H, Salvesen HB, Nevanlinna H, Gronberg H, Brenner H, Brauch H, Anton-Culver H, Song H, Lim HY, McNeish I, Campbell I, Vergote I, Gronwald J, Lubiński J, Stanford JL, Benítez J, Doherty JA, Permuth JB, Chang-Claude J, Donovan JL, Dennis J, Schildkraut JM, Schleutker J, Hopper JL, Kupryjanczyk J, Park JY, Figueroa J, Clements JA, Knight JA, Peto J, Cunningham JM, Pow-Sang J, Batra J, Czene K, Lu KH, Herkommer K, Khaw KT; kConFab Investigators, Matsuo K, Muir K, Offitt K, Chen K, Moysich KB, Aittomäki K, Odunsi K, Kiemeney LA, Massuger LF, Fitzgerald LM, Cook LS, Cannon-Albright L, Hooning MJ, Pike MC, Bolla MK, Luedeke M, Teixeira MR, Goodman MT, Schmidt MK, Riggan M, Aly M, Rossing MA, Beckmann MW, Moisse M, Sanderson M, Southey MC, Jones M, Lush M, Hildebrandt MA, Hou MF, Schoemaker MJ, Garcia-Closas M, Bogdanova N, Rahman N; NBCS Investigators, Le ND, Orr N, Wentzensen N, Pashayan N, Peterlongo P, Guénel P, Brennan P, Paulo P, Webb PM, Broberg P, Fasching PA, Devilee P, Wang Q, Cai Q, Li Q, Kaneva R, Butzow R, Kopperud RK, Schmutzler RK, Stephenson RA, MacInnis RJ, Hoover RN, Winqvist R, Ness R, Milne RL, Travis RC, Benlloch S, Olson SH, McDonnell SK, Tworoger SS, Maia S, Berndt S, Lee SC, Teo SH, Thibodeau SN, Bojesen SE, Gapstur SM, Kjær SK, Pejovic T, Tammela TL; GENICA Network; PRACTICAL consortium, Dörk T, Brüning T, Wahlfors T, Key TJ, Edwards TL, Menon U, Hamann U, Mitev V, Kosma VM, Setiawan VW, Kristensen V, Arndt V, Vogel W, Zheng W, Sieh W, Blot WJ, Kluzniak W, Shu XO, Gao YT, Schumacher F, Freedman ML, Berchuck A, Dunning AM, Simard J, Haiman CA, Spurdle A, Sellers TA, Hunter DJ, Henderson BE, Kraft P, Chanock SJ, Couch FJ, Hall P, Gayther SA, Easton DF, Chenevix-Trench G, Eeles R, Pharoah PD, Lambrechts D. (2016) Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. Cancer Discov. 6(9):1052-67

Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B, Zarghooni V, Herold N, Ditsch N, Kiechle M, Braun M, Fischer C, Dikow N, Schott S, Rahner N, Niederacher D, Fehm T, Gehrig A, Mueller-Reible C, Arnold N, Maass N, Borck G, de Gregorio N, Scholz C, Auber B, Varon-Manteeva R, Speiser D, Horvath J, Lichey N, Wimberger P, Stark S, Faust U, Weber BH, Emons G, Zachariae S, Meindl A, Schmutzler RK, Engel C; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet. 53(7):465-71.

Khankari NK, Murff HJ, Zeng C, Wen W, Eeles RA,, Easton DF, Kote-Jarai Z, Al Olama AA, Benlloch S, Muir K, Giles GG, Wiklund F, Gronberg H, Haiman CA9, Schleutker J, Nordestgaard BG, Travis RC, Donovan JL, Pashayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau SN, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park J, Kaneva R, Batra J, Teixeira MR, Pandha H, Zheng W; PRACTICAL consortium. (2016) Polyunsaturated fatty acids and prostate cancer risk: a Mendelian randomisation analysis from the PRACTICAL consortium. Br J Cancer. 115(5):624-31

Kolarova J, Bens S, Ammerpohl O, Hilger AC, Zhang R, Reutter H, Siebert R. (2016) PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology? Birth Defects Res A Clin Mol Teratol. 106(8):724-8

Ludwig KU, Ahmed ST, Böhmer AC, Sangani NB, Varghese S, Klamt J, Schuenke H, Gültepe P, Hofmann A, Rubini M, Aldhorae KA, Steegers-Theunissen RP, Rojas-Martinez A, Reiter R, Borck G, Knapp M, Nakatomi M, Graf D, Mangold E, Peters H. (2016) Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene.PLoS Genet. 12(3):e1005914

Luedeke M, Rinckleb AE, FitzGerald LM, Geybels MS, Schleutker J, Eeles RA, Teixeira MR, Cannon-Albright L, Ostrander EA, Weikert S, Herkommer K, Wahlfors T, Visakorpi T, Leinonen KA, Tammela TL, Cooper CS, Kote-Jarai Z, Edwards S, Goh CL, McCarthy F, Parker C, Flohr P, Paulo P, Jerónimo C, Henrique R, Krause H, Wach S, Lieb V, Rau TT, Vogel W, Kuefer R, Hofer MD, Perner S, Rubin MA, Agarwal AM, Easton DF, Amin Al Olama A, Benlloch S; PRACTICAL consortium, Hoegel J, Stanford JL, Maier C (2016) Prostate cancer risk regions at 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status.Hum Mol Genet.25(24):5490-5499.

Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU.(2016) Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.Am J Hum Genet. 98(4):755-62.

Mancuso N, Rohland N, Rand KA, Tandon A, Allen A, Quinque D, Mallick S, Li H, Stram A, Sheng X, Kote-Jarai Z, Easton DF, Eeles RA; PRACTICAL consortium, Le Marchand L, Lubwama A, Stram D, Watya S, Conti DV, Henderson B, Haiman CA, Pasaniuc B, Reich D. (2016) The contribution of rare variation to prostate cancer heritability.Nat Genet. 48(1):30-5

Marroquin N, Stranz S, Müller K, Wieland T, Ruf WP, Brockmann SJ, Danzer KM, Borck G, Hübers A, Weydt P, Meitinger T, Strom TM, Rosenbohm A, Ludolph AC, Weishaupt JH. (2016) Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant.Brain. 139(Pt 2):e8

Marzec J, Mao X, Li M, Wang M, Feng N, Gou X, Wang G, Sun Z, Xu J, Xu H, Zhang X, Zhao SC, Ren G, Yu Y, Wu Y, Wu J, Xue Y, Zhou B, Zhang Y, Xu X, Li J, He W, Benlloch S, Ross-Adams H, Chen L, Li J, Hong Y, Kote-Jarai Z, Cui X, Hou J, Guo J, Xu L, Yin C, Zhou Y, Neal DE, Oliver T, Cao G, Zhang Z, Easton DF, Chelala C; PRACTICAL Consortium; CHIPGECS Group, Al Olama AA, Eeles RA, Zhang H, Lu YJ. (2016) A genetic study and meta-analysis of the genetic predisposition of prostate cancer in a Chinese population.Oncotarget. 2016 Apr 19;7(16):21393-403

Mostafa H, Pala A, Högel J, Hlavac M, Dietrich E, Westhoff MA, Nonnenmacher L, Burster T, Georgieff M, Wirtz CR, Schneider EM. (2016) Immune phenotypes predict survival in patients with glioblastoma multiforme. J Hematol Oncol. 9(1):77

Mulugeta E, Wassenaar E, Sleddens-Linkels E, van IJcken WF, Heard E, Grootegoed JA, Just W, Gribnau J, Baarends WM. (2016) Genomes of Ellobius species provide insight into the evolutionary dynamics of mammalian sex chromosomes. Genome Res. 26(9):1202-10

Ning X, Farschtschi S, Jones A, Kehrer-Sawatzki H, Mautner VF, Friedman JM. (2016) Growth in Neurofibromatosis 1 Microdeletion Patients. Clin Genet. 89(3):351-4.

Otto C, Scholtysik R, Schmitz R, Kreuz M, Becher C, Hummel M, Rosenwald A, Trümper L, Klapper W, Siebert R, Küppers R; “Molecular Mechanisms in Malignant Lymphomas” Network Project. (2016) Novel IGH and MYC Translocation Partners in Diffuse Large B-Cell Lymphomas. Genes Chromosomes Cancer. 55(12):932-943

Saunders EJ, Dadaev T, Leongamornlert DA, Al Olama AA, Benlloch S, Giles GG, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal D, Pasayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau SN, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park JY, Kaneva R, Batra J, Teixeira MR, Pandha H, Govindasami K, Muir K; UK Genetic Prostate Cancer Study Collaborators; UK ProtecT Study Collaborators; PRACTICAL Consortium, Easton DF, Eeles RA, Kote-Jarai Z. (2016) Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array.Br J Cancer. ;114(8):945-52.

Speit G, Schütz P, Bausinger J. (2016) Different sensitivities of cultured mammalian cells towards aphidicolin-enhanced DNA effects in the comet assay.Mutat Res Genet Toxicol Environ Mutagen. 803-804:22-6

Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G. (2016) Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and miceGenome Res. 26(2):183-91.

Spielmann M, Marx S, Barbi G, Flöttmann R, Kehrer-Sawatzki H, König R, Horn D, Mundlos S, Nader S, Borck G. (2016) Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. Am J Med Genet A. 170A(5):1202-7

Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, Dörk T, Claes KB, Reis-Filho J, Teo ZL, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefrey FA, Dowty JG, Schmidt MK, Broeks A, Hogervorst FB, Verhoef S, Carpenter J, Clarke C, Scott RJ, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Burwinkel B, Yang R, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen S, Nielsen SF, Flyger H, Benitez J, Zamora MP, Perez JI, Menéndez P, Anton-Culver H, Neuhausen S, Ziogas A, Clarke CA, Brenner H, Arndt V, Stegmaier C, Brauch H, Brüning T, Ko YD, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova NV, Antonenkova NN, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Spurdle AB, Investigators K; Australian Ovarian Cancer Study Group, Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Olson JE, Vachon C, Pankratz VS, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnæs GG, Zheng W, Hunter DJ, Lindstrom S, Hankinson SE, Kraft P, Andrulis I, Knight JA, Glendon G, Mulligan AM, Jukkola-Vuorinen A, Grip M, Kauppila S, Devilee P, Tollenaar RA, Seynaeve C, Hollestelle A, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles DM, Rafiq S, Tapper WJ, Gerty SM, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Brand JS, Humphreys K, Cox A, Reed MW, Luccarini C, Baynes C, Dunning AM, Hamann U, Torres D, Ulmer HU, Rüdiger T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Swerdlow A, Ashworth A, Orr N, Jones M, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Simard J, Dumont M, Soucy P, Eeles R, Muir K, Wiklund F, Gronberg H, Schleutker J, Nordestgaard BG, Weischer M, Travis RC, Neal D, Donovan JL, Hamdy FC, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Schaid DJ, Kelley JL, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Butterbach K, Park J, Kaneva R, Batra J, Teixeira MR, Kote-Jarai Z, Olama AA, Benlloch S, Renner SP, Hartmann A, Hein A, Ruebner M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambretchs S, Doherty JA, Rossing MA, Nickels S, Eilber U, Wang-Gohrke S, Odunsi K, Sucheston-Campbell LE, Friel G, Lurie G, Killeen JL, Wilkens LR, Goodman MT, Runnebaum I, Hillemanns PA, Pelttari LM, Butzow R, Modugno F, Edwards RP, Ness RB, Moysich KB, du Bois A, Heitz F, Harter P, Kommoss S, Karlan BY, Walsh C, Lester J, Jensen A, Kjaer SK, Høgdall E, Peissel B, Bonanni B, Bernard L, Goode EL, Fridley BL, Vierkant RA, Cunningham JM, Larson MC, Fogarty ZC, Kalli KR, Liang D, Lu KH, Hildebrandt MA, Wu X, Levine DA, Dao F, Bisogna M, Berchuck A, Iversen ES, Marks JR, Akushevich L, Cramer DW, Schildkraut J, Terry KL, Poole EM, Stampfer M, Tworoger SS, Bandera EV, Orlow I, Olson SH, Bjorge L, Salvesen HB, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Pejovic T, Bean Y, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Górski B, Gronwald J, Menkiszak J, Høgdall CK, Lundvall L, Nedergaard L, Engelholm SA, Dicks E, Tyrer J, Campbell I, McNeish I, Paul J, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Cai H, Shu XO, Teten RT, Sutphen R, McLaughlin JR, Narod SA, Phelan CM, Monteiro AN, Fenstermacher D, Lin HY, Permuth JB, Sellers TA, Chen YA, Tsai YY, Chen Z, Gentry-Maharaj A, Gayther SA, Ramus SJ, Menon U, Wu AH, Pearce CL, Van Den Berg D, Pike MC, Dansonka-Mieszkowska A, Plisiecka-Halasa J, Moes-Sosnowska J, Kupryjanczyk J, Pharoah PD, Song H, Winship I, Chenevix-Trench G, Giles GG, Tavtigian SV, Easton DF, Milne RL. (2016) PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. J Med Genet. 53(12):800-811

Sowada N, Stiller B, Kubisch C. (2016) Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans. Biochem Biophys Res Commun. 476(4):528-33

Steinacker P, Feneberg E, Weishaupt J, Brettschneider J, Tumani H, Andersen PM, von Arnim CA, Böhm S, Kassubek J, Kubisch C, Lulé D, Müller HP, Muche R, Pinkhardt E, Oeckl P, Rosenbohm A, Anderl-Straub S, Volk AE, Weydt P, Ludolph AC, Otto M. (2016) Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients. J Neurol Neurosurg Psychiatry. 87(1):12-20

Stunnenberg HG; International Human Epigenome Consortium, Hirst M. (2016) The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery. Cell. 167(5):1145-1149.

Tasdogan A, Kumar S, Allies G, Bausinger J, Beckel F, Hofemeister H, Mulaw M, Madan V, Scharfetter-Kochanek K, Feuring-Buske M, Doehner K, Speit G, Stewart AF, Fehling HJ. (2016)DNA Damage-Induced HSPC Malfunction Depends on ROS Accumulation Downstream of IFN-1 Signaling and Bid Mobilization.Cell Stem Cell. 19(6):752-767

Teerlink CC, Leongamornlert D, Dadaev T, Thomas A, Farnham J, Stephenson RA, Riska S, McDonnell SK, Schaid DJ, Catalona WJ, Zheng SL, Cooney KA, Ray AM, Zuhlke KA, Lange EM, Giles GG, Southey MC, Fitzgerald LM, Rinckleb A, Luedeke M, Maier C, Stanford JL, Ostrander EA, Kaikkonen EM, Sipeky C, Tammela T, Schleutker J, Wiley KE, Isaacs SD, Walsh PC, Isaacs WB, Xu J, Cancel-Tassin G, Cussenot O, Mandal D, Laurie C, Laurie C; PRACTICAL consortium; International Consortium for Prostate Cancer Genetics, Thibodeau SN, Eeles RA, Kote-Jarai Z, Cannon-Albright L. (2016) Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. Hum Genet. 135(8):923-38.

Weydt P, Oeckl P, Huss A, Müller K, Volk AE, Kuhle J, Knehr A, Andersen PM1, Prudlo J, Steinacker P, Weishaupt JH, Ludolph AC, Otto M (2016) Neurofilaments levels as biomarkers in asymptomatic and symptomatic familial ALS. Ann Neurol. 79(1):152-8.

Wright JL, Chéry L, Holt S, Lin DW, Luedeke M, Rinckleb AE, Maier C, Stanford JL. (2016) Aspirin and NSAID use in association with molecular subtypes of prostate cancer defined by TMPRSS2:ERG fusion status. Prostate Cancer Prostatic Dis. 19(1):53-6

Aschoff JK, Riedl KM, Cooperstone JL, Högel J, Bosy-Westphal A, Schwartz SJ, Carle R, Schweiggert RM. (2016) Urinary excretion of Citrus flavanones and their major catabolites after consumption of fresh oranges and pasteurized orange juice: A randomized cross-over study. Mol Nutr Food Res. 60(12):2602-2610

Bausinger J, Schütz P, Piberger AL, Speit G. (2016) Further characterization of benzo[a]pyrene diolepoxide (BPDE)-induced comet assay effects.Mutagenesis. 31(2):161-9

Bausinger J, Speit G. (2016) The impact of lymphocyte isolation on induced DNA damage in human blood samples measured by the comet assay.Mutagenesis. 31(5):567-72.

Bernhart SH, Kretzmer H, Holdt LM, Jühling F, Ammerpohl O, Bergmann AK, Northoff BH, Doose G, Siebert R, Stadler PF, Hoffmann S. (2016) Changes of bivalent chromatin coincide with increased expression of developmental genes in cancer.Sci Rep. 6:37393

Bianchi P, Schwarz K, Högel J, Fermo E, Vercellati C, Grosse R, van Wijk R, van Zwieten R, Barcellini W, Zanella A, Heimpel H. (2016) Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations. Br J Haematol. 175(4):696-704

Bonilla C, Lewis SJ, Martin RM, Donovan JL, Hamdy FC, Neal DE, Eeles R, Easton D, Kote-Jarai Z, Al Olama AA, Benlloch S, Muir K, Giles GG, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Pashayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Maier C, Kibel AS30, Cybulski C, Cannon-Albright L, Brenner H, Park J, Kaneva R, Batra J, Teixeira MR, Pandha H, Lathrop M, Davey Smith G; PRACTICAL consortium. (2016) Pubertal development and prostate cancer risk: Mendelian randomization study in a population-based cohort.BMC Med.14:66

Bonilla C, Lewis SJ, Rowlands MA, Gaunt TR, Davey Smith G, Gunnell D, Palmer T, Donovan JL, Hamdy FC, Neal DE, Eeles R, Easton D, Kote-Jarai Z, Al Olama AA, Benlloch S, Muir K, Giles GG, Wiklund F, Grönberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, 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, Lathrop M, Martin RM, Holly JM4. (2016) Assessing the role of insulin-like growth factors and binding proteins in prostate cancer using Mendelian randomization: Genetic variants as instruments for circulating levels. Int J Cancer. 139(7):1520-33.

Breeze CE, Paul DS, van Dongen J, Butcher LM, Ambrose JC, Barrett JE, Lowe R, Rakyan VK, Iotchkova V, Frontini M, Downes K, Ouwehand WH, Laperle J, Jacques PÉ, Bourque G, Bergmann AK, Siebert R, Vellenga E, Saeed S, Matarese F, Martens JH, Stunnenberg HG, Teschendorff AE, Herrero J, Birney E, Dunham I, Beck S. (2016) eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data. Cell Rep. 17(8):2137-2150

Brenner D, Müller K, Wieland T, Weydt P, Böhm S, Lulé D, Hübers A, Neuwirth C, Weber M, Borck G, Wahlqvist M, Danzer KM, Volk AE, Meitinger T, Strom TM, Otto M, Kassubek J, Ludolph AC, Andersen PM, Weishaupt JH. (2016) NEK1 mutations in familial amyotrophic lateral sclerosis. Brain. 139(Pt 5):e28

Bull CJ, Bonilla C, Holly JM, Perks CM, Davies N, Haycock P, Yu OH, Richards JB, Eeles R, Easton D, Kote-Jarai Z, Amin Al Olama A, Benlloch S, Muir K, Giles GG, MacInnis RJ, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal D, 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, Micheal A, Pandha H, Smith GD, Lewis SJ, Martin RM; PRACTICAL consortium. (2016) Blood lipids and prostate cancer: a Mendelian randomization analysis.Cancer Med. 5(6):1125-36

Daud S, Kakar N, Goebel I, Hashmi AS, Yaqub T, Nürnberg G, Nürnberg P, Morris-Rosendahl DJ, Wasim M, Volk AE, Kubisch C, Ahmad J, Borck G. (2016) Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. Amyotroph Lateral Scler Frontotemporal Degener. 17(3-4):260-5

de Vries B, Anttila V, Freilinger T, Wessman M, Kaunisto MA, Kallela M, Artto V, Vijfhuizen LS, Göbel H, Dichgans M, Kubisch C, Ferrari MD, Palotie A, Terwindt GM, van den Maagdenberg AM (2016) Systematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set.Cephalalgia. 36(7):604-14

Fan C, Wolking S, Lehmann-Horn F, Hedrich UB, Freilinger T, Lerche H, Borck G, Kubisch C, Jurkat-Rott K. (2016) Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. Cephalalgia. [Epub ahead of print]

Farschtschi S, Mautner VF, Pham M, Nguyen R, Kehrer-Sawatzki H, Hutter S, Friedrich RE, Schulz A, Morrison H, Jones DT, Bendszus M, Bäumer P. (2016) Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. Ann Neurol. 80(4):625-8

Friebe-Hoffmann U, Reister F, Gaspar H, Hummler H, Lindner W, Lato K. (2016) [The Wolf-Hirschhorn Syndrome].Z Geburtshilfe Neonatol. 220(5):195-199

Gatz SA, Salles D, Jacobsen EM, Dörk T, Rausch T, Aydin S, Surowy H, Volcic M, Vogel W, Debatin KM, Stütz AM, Schwarz K, Pannicke U, Hess T, Korbel JO, Schulz AS, Schumacher J, Wiesmüller L. (2016) MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient ChildHum Mutat. 37(3):257-68

Gormley P, Anttila V, Winsvold BS, Palta P, Esko T, Pers TH, Farh KH, Cuenca-Leon E, Muona M, Furlotte NA, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt GM, Kallela M, Freilinger TM, Ran C, Gordon SG, Stam AH, Steinberg S, Borck G, Koiranen M, Quaye L, Adams HH, Lehtimäki T, Sarin AP, Wedenoja J, Hinds DA, Buring JE, Schürks M, Ridker PM, Hrafnsdottir MG, Stefansson H, Ring SM, Hottenga JJ, Penninx BW, Färkkilä M, Artto V, Kaunisto M, Vepsäläinen S, Malik R, Heath AC, Madden PA, Martin NG, Montgomery GW, Kurki MI, Kals M, Mägi R, Pärn K, Hämäläinen E, Huang H, Byrnes AE, Franke L, Huang J, Stergiakouli E, Lee PH, Sandor C, Webber C, Cader Z, Muller-Myhsok B, Schreiber S, Meitinger T, Eriksson JG, Salomaa V, Heikkilä K, Loehrer E, Uitterlinden AG, Hofman A, van Duijn CM, Cherkas L, Pedersen LM, Stubhaug A, Nielsen CS, Männikkö M, Mihailov E, Milani L, Göbel H, Esserlind AL, Christensen AF, Hansen TF, Werge T; International Headache Genetics Consortium, Kaprio J, Aromaa AJ, Raitakari O, Ikram MA, Spector T, Järvelin MR, Metspalu A, Kubisch C, Strachan DP, Ferrari MD, Belin AC, Dichgans M, Wessman M, van den Maagdenberg AM, Zwart JA, Boomsma DI, Smith GD, Stefansson K, Eriksson N, Daly MJ, Neale BM, Olesen J, Chasman DI, Nyholt DR, Palotie A. (2016) Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.Nat Genet. 48(8):856-66.

Gusev A, Shi H, Kichaev G, Pomerantz M, Li F, Long HW, Ingles SA, Kittles RA, Strom SS, Rybicki BA, Nemesure B, Isaacs WB, Zheng W, Pettaway CA, Yeboah ED, Tettey Y, Biritwum RB, Adjei AA, Tay E, Truelove A, Niwa S, Chokkalingam AP, John EM, Murphy AB, Signorello LB, Carpten J, Leske MC, Wu SY, Hennis AJ, Neslund-Dudas C, Hsing AW, Chu L, Goodman PJ, Klein EA, Witte JS, Casey G, Kaggwa S, Cook MB, Stram DO, Blot WJ, Eeles RA, Easton D, Kote-Jarai Z, Al Olama AA, Benlloch S, Muir K, Giles GG, Southey MC, Fitzgerald LM, Gronberg H, Wiklund F, Aly M, Henderson BE, Schleutker J, Wahlfors T, Tammela TL, Nordestgaard BG, Key TJ, Travis RC, Neal DE, Donovan JL, Hamdy FC, Pharoah P, Pashayan N, Khaw KT, Stanford JL, Thibodeau SN, McDonnell SK, Schaid DJ, Maier C, Vogel W, Luedeke M, Herkommer K, Kibel AS, Cybulski C, Wokolorczyk D, Kluzniak W, Cannon-Albright L, Teerlink C, Brenner H, Dieffenbach AK, Arndt V, Park JY, Sellers TA, Lin HY, Slavov C, Kaneva R, Mitev V, Batra J, Spurdle A, Clements JA, Teixeira MR, Pandha H, Michael A, Paulo P, Maia S, Kierzek A; PRACTICAL consortium, Conti DV, Albanes D, Berg C, Berndt SI, Campa D, Crawford ED, Diver WR, Gapstur SM, Gaziano JM, Giovannucci E, Hoover R, Hunter DJ, Johansson M, Kraft P, Le Marchand L, Lindström S, Navarro C, Overvad K, Riboli E, Siddiq A, Stevens VL, Trichopoulos D, Vineis P, Yeager M, Trynka G, Raychaudhuri S, Schumacher FR, Price AL, Freedman ML, Haiman CA, Pasaniuc B. Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation.Nat Commun. 7:10979

Guven G, Lohmann E, Bras J, Gibbs JR, Gurvit H, Bilgic B, Hanagasi H, Rizzu P, Heutink P, Emre M, Erginel-Unaltuna N, Just W, Hardy J, Singleton A, Guerreiro R. (2016) Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PLoS One. 11(9):e0162592

Hillmer M, Wagner D, Summerer A, Daiber M, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H. (2016) Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions. Hum Mol Genet. 25(3):484-96

Hornig NC, Ukat M, Schweikert HU, Hiort O, Werner R, Drop SL, Cools M, Hughes IA, Audi L, Ahmed SF, Demiri J, Rodens P, Worch L, Wehner G, Kulle AE, Dunstheimer D, Müller-Roßberg E, Reinehr T, Hadidi AT, Eckstein AK, van der Horst C, Seif C, Siebert R, Ammerpohl O, Holterhus PM. (2016) Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity. J Clin Endocrinol Metab. 101(11):4468-4477

Hutter S, Piro RM, Waszak SM, Kehrer-Sawatzki H, Friedrich RE, Lassaletta A, Witt O, Korbel JO, Lichter P, Schuhmann MU, Pfister SM, Tabori U, Mautner VF, Jones DT. (2016) No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.Hum Genet. 135(5):469-75.

Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W. (2016) REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. Am J Hum Genet. 99(4):877-885

Kar SP, Beesley J, Amin Al Olama A, Michailidou K, Tyrer J, Kote-Jarai Z, Lawrenson K, Lindstrom S, Ramus SJ, Thompson DJ; ABCTB Investigators, Kibel AS, Dansonka-Mieszkowska A, Michael A, Dieffenbach AK, Gentry-Maharaj A, Whittemore AS, Wolk A, Monteiro A, Peixoto A, Kierzek A, Cox A, Rudolph A, Gonzalez-Neira A, Wu AH, Lindblom A, Swerdlow A; AOCS Study Group & Australian Cancer Study (Ovarian Cancer); APCB BioResource, Ziogas A, Ekici AB, Burwinkel B, Karlan BY, Nordestgaard BG, Blomqvist C, Phelan C, McLean C, Pearce CL, Vachon C, Cybulski C, Slavov C, Stegmaier C, Maier C, Ambrosone CB, Høgdall CK, Teerlink CC, Kang D, Tessier DC, Schaid DJ, Stram DO, Cramer DW, Neal DE, Eccles D, Flesch-Janys D, Edwards DR, Wokozorczyk D, Levine DA, Yannoukakos D, Sawyer EJ, Bandera EV, Poole EM, Goode EL, Khusnutdinova E, Høgdall E, Song F, Bruinsma F, Heitz F, Modugno F, Hamdy FC, Wiklund F, Giles GG, Olsson H, Wildiers H, Ulmer HU, Pandha H, Risch HA, Darabi H, Salvesen HB, Nevanlinna H, Gronberg H, Brenner H, Brauch H, Anton-Culver H, Song H, Lim HY, McNeish I, Campbell I, Vergote I, Gronwald J, Lubiński J, Stanford JL, Benítez J, Doherty JA, Permuth JB, Chang-Claude J, Donovan JL, Dennis J, Schildkraut JM, Schleutker J, Hopper JL, Kupryjanczyk J, Park JY, Figueroa J, Clements JA, Knight JA, Peto J, Cunningham JM, Pow-Sang J, Batra J, Czene K, Lu KH, Herkommer K, Khaw KT; kConFab Investigators, Matsuo K, Muir K, Offitt K, Chen K, Moysich KB, Aittomäki K, Odunsi K, Kiemeney LA, Massuger LF, Fitzgerald LM, Cook LS, Cannon-Albright L, Hooning MJ, Pike MC, Bolla MK, Luedeke M, Teixeira MR, Goodman MT, Schmidt MK, Riggan M, Aly M, Rossing MA, Beckmann MW, Moisse M, Sanderson M, Southey MC, Jones M, Lush M, Hildebrandt MA, Hou MF, Schoemaker MJ, Garcia-Closas M, Bogdanova N, Rahman N; NBCS Investigators, Le ND, Orr N, Wentzensen N, Pashayan N, Peterlongo P, Guénel P, Brennan P, Paulo P, Webb PM, Broberg P, Fasching PA, Devilee P, Wang Q, Cai Q, Li Q, Kaneva R, Butzow R, Kopperud RK, Schmutzler RK, Stephenson RA, MacInnis RJ, Hoover RN, Winqvist R, Ness R, Milne RL, Travis RC, Benlloch S, Olson SH, McDonnell SK, Tworoger SS, Maia S, Berndt S, Lee SC, Teo SH, Thibodeau SN, Bojesen SE, Gapstur SM, Kjær SK, Pejovic T, Tammela TL; GENICA Network; PRACTICAL consortium, Dörk T, Brüning T, Wahlfors T, Key TJ, Edwards TL, Menon U, Hamann U, Mitev V, Kosma VM, Setiawan VW, Kristensen V, Arndt V, Vogel W, Zheng W, Sieh W, Blot WJ, Kluzniak W, Shu XO, Gao YT, Schumacher F, Freedman ML, Berchuck A, Dunning AM, Simard J, Haiman CA, Spurdle A, Sellers TA, Hunter DJ, Henderson BE, Kraft P, Chanock SJ, Couch FJ, Hall P, Gayther SA, Easton DF, Chenevix-Trench G, Eeles R, Pharoah PD, Lambrechts D. (2016) Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. Cancer Discov. 6(9):1052-67

Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B, Zarghooni V, Herold N, Ditsch N, Kiechle M, Braun M, Fischer C, Dikow N, Schott S, Rahner N, Niederacher D, Fehm T, Gehrig A, Mueller-Reible C, Arnold N, Maass N, Borck G, de Gregorio N, Scholz C, Auber B, Varon-Manteeva R, Speiser D, Horvath J, Lichey N, Wimberger P, Stark S, Faust U, Weber BH, Emons G, Zachariae S, Meindl A, Schmutzler RK, Engel C; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet. 53(7):465-71.

Khankari NK, Murff HJ, Zeng C, Wen W, Eeles RA,, Easton DF, Kote-Jarai Z, Al Olama AA, Benlloch S, Muir K, Giles GG, Wiklund F, Gronberg H, Haiman CA9, Schleutker J, Nordestgaard BG, Travis RC, Donovan JL, Pashayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau SN, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park J, Kaneva R, Batra J, Teixeira MR, Pandha H, Zheng W; PRACTICAL consortium. (2016) Polyunsaturated fatty acids and prostate cancer risk: a Mendelian randomisation analysis from the PRACTICAL consortium. Br J Cancer. 115(5):624-31

Kolarova J, Bens S, Ammerpohl O, Hilger AC, Zhang R, Reutter H, Siebert R. (2016) PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology? Birth Defects Res A Clin Mol Teratol. 106(8):724-8

Ludwig KU, Ahmed ST, Böhmer AC, Sangani NB, Varghese S, Klamt J, Schuenke H, Gültepe P, Hofmann A, Rubini M, Aldhorae KA, Steegers-Theunissen RP, Rojas-Martinez A, Reiter R, Borck G, Knapp M, Nakatomi M, Graf D, Mangold E, Peters H. (2016) Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene.PLoS Genet. 12(3):e1005914

Luedeke M, Rinckleb AE, FitzGerald LM, Geybels MS, Schleutker J, Eeles RA, Teixeira MR, Cannon-Albright L, Ostrander EA, Weikert S, Herkommer K, Wahlfors T, Visakorpi T, Leinonen KA, Tammela TL, Cooper CS, Kote-Jarai Z, Edwards S, Goh CL, McCarthy F, Parker C, Flohr P, Paulo P, Jerónimo C, Henrique R, Krause H, Wach S, Lieb V, Rau TT, Vogel W, Kuefer R, Hofer MD, Perner S, Rubin MA, Agarwal AM, Easton DF, Amin Al Olama A, Benlloch S; PRACTICAL consortium, Hoegel J, Stanford JL, Maier C (2016) Prostate cancer risk regions at 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status.Hum Mol Genet.25(24):5490-5499.

Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU.(2016) Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.Am J Hum Genet. 98(4):755-62.

Mancuso N, Rohland N, Rand KA, Tandon A, Allen A, Quinque D, Mallick S, Li H, Stram A, Sheng X, Kote-Jarai Z, Easton DF, Eeles RA; PRACTICAL consortium, Le Marchand L, Lubwama A, Stram D, Watya S, Conti DV, Henderson B, Haiman CA, Pasaniuc B, Reich D. (2016) The contribution of rare variation to prostate cancer heritability.Nat Genet. 48(1):30-5

Marroquin N, Stranz S, Müller K, Wieland T, Ruf WP, Brockmann SJ, Danzer KM, Borck G, Hübers A, Weydt P, Meitinger T, Strom TM, Rosenbohm A, Ludolph AC, Weishaupt JH. (2016) Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant.Brain. 139(Pt 2):e8

Marzec J, Mao X, Li M, Wang M, Feng N, Gou X, Wang G, Sun Z, Xu J, Xu H, Zhang X, Zhao SC, Ren G, Yu Y, Wu Y, Wu J, Xue Y, Zhou B, Zhang Y, Xu X, Li J, He W, Benlloch S, Ross-Adams H, Chen L, Li J, Hong Y, Kote-Jarai Z, Cui X, Hou J, Guo J, Xu L, Yin C, Zhou Y, Neal DE, Oliver T, Cao G, Zhang Z, Easton DF, Chelala C; PRACTICAL Consortium; CHIPGECS Group, Al Olama AA, Eeles RA, Zhang H, Lu YJ. (2016) A genetic study and meta-analysis of the genetic predisposition of prostate cancer in a Chinese population.Oncotarget. 2016 Apr 19;7(16):21393-403

Mostafa H, Pala A, Högel J, Hlavac M, Dietrich E, Westhoff MA, Nonnenmacher L, Burster T, Georgieff M, Wirtz CR, Schneider EM. (2016) Immune phenotypes predict survival in patients with glioblastoma multiforme. J Hematol Oncol. 9(1):77

Mulugeta E, Wassenaar E, Sleddens-Linkels E, van IJcken WF, Heard E, Grootegoed JA, Just W, Gribnau J, Baarends WM. (2016) Genomes of Ellobius species provide insight into the evolutionary dynamics of mammalian sex chromosomes. Genome Res. 26(9):1202-10

Ning X, Farschtschi S, Jones A, Kehrer-Sawatzki H, Mautner VF, Friedman JM. (2016) Growth in Neurofibromatosis 1 Microdeletion Patients. Clin Genet. 89(3):351-4.

Otto C, Scholtysik R, Schmitz R, Kreuz M, Becher C, Hummel M, Rosenwald A, Trümper L, Klapper W, Siebert R, Küppers R; “Molecular Mechanisms in Malignant Lymphomas” Network Project. (2016) Novel IGH and MYC Translocation Partners in Diffuse Large B-Cell Lymphomas. Genes Chromosomes Cancer. 55(12):932-943

Saunders EJ, Dadaev T, Leongamornlert DA, Al Olama AA, Benlloch S, Giles GG, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal D, Pasayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau SN, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park JY, Kaneva R, Batra J, Teixeira MR, Pandha H, Govindasami K, Muir K; UK Genetic Prostate Cancer Study Collaborators; UK ProtecT Study Collaborators; PRACTICAL Consortium, Easton DF, Eeles RA, Kote-Jarai Z. (2016) Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array.Br J Cancer. ;114(8):945-52.

Speit G, Schütz P, Bausinger J. (2016) Different sensitivities of cultured mammalian cells towards aphidicolin-enhanced DNA effects in the comet assay.Mutat Res Genet Toxicol Environ Mutagen. 803-804:22-6

Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G. (2016) Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and miceGenome Res. 26(2):183-91.

Spielmann M, Marx S, Barbi G, Flöttmann R, Kehrer-Sawatzki H, König R, Horn D, Mundlos S, Nader S, Borck G. (2016) Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. Am J Med Genet A. 170A(5):1202-7

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Sowada N, Stiller B, Kubisch C. (2016) Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans. Biochem Biophys Res Commun. 476(4):528-33

Steinacker P, Feneberg E, Weishaupt J, Brettschneider J, Tumani H, Andersen PM, von Arnim CA, Böhm S, Kassubek J, Kubisch C, Lulé D, Müller HP, Muche R, Pinkhardt E, Oeckl P, Rosenbohm A, Anderl-Straub S, Volk AE, Weydt P, Ludolph AC, Otto M. (2016) Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients. J Neurol Neurosurg Psychiatry. 87(1):12-20

Stunnenberg HG; International Human Epigenome Consortium, Hirst M. (2016) The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery. Cell. 167(5):1145-1149.

Tasdogan A, Kumar S, Allies G, Bausinger J, Beckel F, Hofemeister H, Mulaw M, Madan V, Scharfetter-Kochanek K, Feuring-Buske M, Doehner K, Speit G, Stewart AF, Fehling HJ. (2016)DNA Damage-Induced HSPC Malfunction Depends on ROS Accumulation Downstream of IFN-1 Signaling and Bid Mobilization.Cell Stem Cell. 19(6):752-767

Teerlink CC, Leongamornlert D, Dadaev T, Thomas A, Farnham J, Stephenson RA, Riska S, McDonnell SK, Schaid DJ, Catalona WJ, Zheng SL, Cooney KA, Ray AM, Zuhlke KA, Lange EM, Giles GG, Southey MC, Fitzgerald LM, Rinckleb A, Luedeke M, Maier C, Stanford JL, Ostrander EA, Kaikkonen EM, Sipeky C, Tammela T, Schleutker J, Wiley KE, Isaacs SD, Walsh PC, Isaacs WB, Xu J, Cancel-Tassin G, Cussenot O, Mandal D, Laurie C, Laurie C; PRACTICAL consortium; International Consortium for Prostate Cancer Genetics, Thibodeau SN, Eeles RA, Kote-Jarai Z, Cannon-Albright L. (2016) Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. Hum Genet. 135(8):923-38.

Weydt P, Oeckl P, Huss A, Müller K, Volk AE, Kuhle J, Knehr A, Andersen PM1, Prudlo J, Steinacker P, Weishaupt JH, Ludolph AC, Otto M (2016) Neurofilaments levels as biomarkers in asymptomatic and symptomatic familial ALS. Ann Neurol. 79(1):152-8.

Wright JL, Chéry L, Holt S, Lin DW, Luedeke M, Rinckleb AE, Maier C, Stanford JL. (2016) Aspirin and NSAID use in association with molecular subtypes of prostate cancer defined by TMPRSS2:ERG fusion status. Prostate Cancer Prostatic Dis. 19(1):53-6