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Publications 2016

Publications 2016

  • Schwerd T, Khaled AV, Schürmann M, Chen H, Händel N, Reis A, Gillessen-Kaesbach G, Uhlig HH, Abou Jamra R:(2016)A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome.Eur J Hum Genet. 2016;24(6): 889-94
  • Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2 , Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A, Australian Ovarian Cancer Study Group , Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H, Breast Cancer Family Register , Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KB, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Silva ID, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD, EMBRACE , Engel C, Eriksson M, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Frost D, Garber J, García-Closas M, Gayther SA, GEMO Study Collaborators , GENICA Network , Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Gschwantler Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen Tv, Harter P, Hartikainen JM, Healey S, HEBON , Hein A, Heitz F, Henderson BE, Herzog J, T Hildebrandt MA, Hogervorst FB, Hopper JL, Humphreys K, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabisch M, Karlan BY, Kataja V, Kauff N, kConFab Investigators , Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Bout JP, Konstantopoulou I, Kosma VM, Krakstad C, Kristensen V, Kuchenbaecker KB, Kupryjanczyk J, Laitman Y, Lambrechts D, Lambrechts S, Larson MC, Lasa A, Laurent-Puig P, Lazaro C, Le ND, Le Marchand L, Leminen A, Lester J, Levine DA, Li J, Liang D, Lindblom A, Lindor N, Lissowska J, Long J, Lu KH, Lubinski J, Lundvall L, Lurie G, Mai PL, Mannermaa A, Margolin S, Mariette F, Marme F, Martens JW, Massuger LF, Maugard C, Mazoyer S, McGuffog L, McGuire V, McLean C, McNeish I, Meindl A, Menegaux F, Menéndez P, Menkiszak J, Menon U, Mensenkamp AR, Miller N, Milne RL, Modugno F, Montagna M, Moysich KB, Müller H, Mulligan AM, Muranen TA, Narod SA, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nielsen SF, Nordestgaard BG, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olson SH, Oosterwijk JC, Orlow I, Orr N, Orsulic S, Osorio A, Ottini L, Paul J, Pearce CL, Pedersen IS, Peissel B, Pejovic T, Pelttari LM, Perkins J, Permuth-Wey J, Peterlongo P, Peto J, Phelan CM, Phillips KA, Piedmonte M, Pike MC, Platte R, Plisiecka-Halasa J, Poole EM, Poppe B, Pylkäs K, Radice P, Ramus SJ, Rebbeck TR, Reed MW, Rennert G, Risch HA, Robson M, Rodriguez GC, Romero A, Rossing MA, Rothstein JH, Rudolph A, Runnebaum I, Salani R, Salvesen HB, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schrauder MG, Schumacher F, Schwaab I, Scuvera G, Sellers TA, Severi G, Seynaeve CM, Shah M, Shrubsole M, Siddiqui N, Sieh W, Simard J, Singer CF, Sinilnikova OM, Smeets D, Sohn C, Soller M, Song H, Soucy P, Southey MC, Stegmaier C, Stoppa-Lyonnet D, Sucheston L, SWE-BRCA , Swerdlow A, Tangen IL, Tea MK, Teixeira MR, Terry KL, Terry MB, Thomassen M, Thompson PJ, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RA, Tomlinson I, Torres D, Truong T, Tsimiklis H, Tung N, Tworoger SS, Tyrer JP, Vachon CM, Van 't Veer LJ, Van Altena AM, van Asperen CJ, Van Den Berg D, van den Ouweland AM, van Doorn HC, Van Nieuwenhuysen E, van Rensburg EJ, Vergote I, Verhoef S, Vierkant RA, Vijai J, Vitonis AF, von Wachenfeldt A, Walsh C, Wang Q, Wang-Gohrke S, Wappenschmidt B, Weischer M, Weitzel JN, Weltens C, Wentzensen N, Whittemore AS, Wilkens LR, Winqvist R, Wu AH, Wu X, Yang HP, Zaffaroni D, Pilar Zamora M, Zheng W, Ziogas A, Chenevix-Trench G, Pharoah PD, Rookus MA, Hooning MJ, Goode EL:(2016)No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.Gynecol Oncol. 2016;141(2): 386-401
  • Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S:(2016)Loss-of-function variants in HIVEP2 are a cause of intellectual disability.Eur J Hum Genet. 2016;24(4): 556-61
  • Busch M, Nadal J, Schmid M, Paul K, Titze S, Hübner S, Köttgen A, Schultheiss UT, Baid-Agrawal S, Lorenzen J, Schlieper G, Sommerer C, Krane V, Hilge R, Kielstein JT, Kronenberg F, Wanner C, Eckardt KU, Wolf G, GCKD study Investigators , Schlieper G, Findeisen K, Arweiler E, Ernst S, Unger M, Floege J, Schaeffner E, Baid-Agrawal S, Petzold K, Schindler R, Titze S, Hilgers K, Hübner S, Avendano S, Becker-Grosspitsch D, Eckardt KU, Köttgen A, Schultheiss U, Meder S, Mitsch E, Reinhard U, Walz G, Lorenzen J, Kielstein J, Otto P, Haller H, Sommerer C, Föllinger C, Löschner T, Zeier M, Busch M, Paul K, Dittrich L, Wolf G, Sitter T, Hilge R, Blank C, Fischereder M, Krane V, Schmiedeke D, Toncar S, Cavitt D, Schönowsky K, Franz S, Wanner C, Eckardt KU, Titze S, Hausknecht B, Rittmeier M, Weigel A, Prokosch HU, Bärthlein B, Haberländer K, Beck A, Ganslandt T, Knispel S, Dressel T, Gefeller O, Malzer M, Nadal J, Schmid M, Reis A, Ekici A, Kronenberg F, Kollerits B, Weißensteiner H, Forer L, Schönherr S, Oefner P, Gronwald W:(2016)Glycaemic control and antidiabetic therapy in patients with diabetes mellitus and chronic kidney disease - cross-sectional data from the German Chronic Kidney Disease (GCKD) cohort.BMC Nephrol. 2016;17(1): 59
  • Mishra HK, Prots I, Havlicek S, Kohl Z, Perez-Branguli F, Boerstler T, Anneser L, Minakaki G, Wend H, Hampl M, Leone M, Brückner M, Klucken J, Reis A, Boyer L, Schuierer G, Behrens J, Lampert A, Engel FB, Gage FH, Winkler J, Winner B:(2016)GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model.Ann Neurol. 2016;79(5): 826-840
  • López-Posadas R, Becker C, Günther C, Tenzer S, Amann K, Billmeier U, Atreya R, Fiorino G, Vetrano S, Danese S, Ekici AB, Wirtz S, Thonn V, Watson AJ, Brakebusch C, Bergö M, Neurath MF, Atreya I:(2016)Rho-A prenylation and signaling link epithelial homeostasis to intestinal inflammation.J Clin Invest. 2016;126(2): 611-26
  • Ettle B, Kerman BE, Valera E, Gillmann C, Schlachetzki JC, Reiprich S, Büttner C, Ekici AB, Reis A, Wegner M, Bäuerle T, Riemenschneider MJ, Masliah E, Gage FH, Winkler J:(2016)α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy.Acta Neuropathol (Berl). 2016;132(1): 59-75
  • Gerstner S, Köhler W, Heidkamp G, Purbojo A, Uchida S, Ekici AB, Heger L, Luetke-Eversloh M, Schubert R, Bader P, Klingebiel T, Koehl U, Mackensen A, Romagnani C, Cesnjevar R, Dudziak D, Ullrich E:(2016)Specific phenotype and function of CD56-expressing innate immune cell subsets in human thymus.J Leukoc Biol. 2016;100(6): 1297-1310
  • Sommer A, Fadler T, Dorfmeister E, Hoffmann AC, Xiang W, Winner B, Prots I:(2016)Infiltrating T lymphocytes reduce myeloid phagocytosis activity in synucleinopathy model.J Neuroinflammation. 2016;13(1): 174
  • Graser A, Ekici AB, Sopel N, Melichar VO, Zimmermann T, Papadopoulos NG, Taka S, Ferrazzi F, Vuorinen T, Finotto S:(2016)Rhinovirus inhibits IL-17A and the downstream immune responses in allergic asthma.Mucosal Immunol. 2016;9(5): 1183-92
  • Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel CT, Schlötzer-Schrehardt U, Schröder R:(2016)Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.Acta Neuropathol Commun. 2016;4(1): 44
  • Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, Reis A, Santani A, Sticht H, Abou Jamra R:(2016)SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.Orphanet J Rare Dis. 2016;11(1): 130
  • Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GM, Nava C, Wasserstein M, Bruel AL, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière JB, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T, Thauvin-Robinet C, Zweier C:(2016)Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.Hum Mutat. 2016;37(8): 755-64
  • Thompson DJ, O'Mara TA, Glubb DM, Painter JN, Cheng T, Folkerd E, Doody D, Dennis J, Webb PM, Australian National Endometrial Cancer Study Group (ANECS) , Gorman M, Martin L, Hodgson S, National Study of Endometrial Cancer Genetics Group (NSECG) , Michailidou K, Tyrer JP, Maranian MJ, Hall P, Czene K, Darabi H, Li J, Fasching PA, Hein A, Beckmann MW, Ekici AB, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Zhao H, Depreeuw J, Schrauwen S, Amant F, Goode EL, Fridley BL, Dowdy SC, Winham SJ, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Carvajal-Carmona L, Tham E, Liu T, Mints M, for RENDOCAS , Scott RJ, McEvoy M, Attia J, Holliday EG, Montgomery GW, Martin NG, Nyholt DR, Henders AK, Hopper JL, Traficante N, AOCS Group , Ruebner M, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Lambrechts D, Chang-Claude J, Couch FJ, Giles GG, Kristensen VN, Cox A, Bolla MK, Wang Q, Bojesen SE, Shah M, Luben R, Khaw KT, Pharoah PD, Dunning AM, Tomlinson I, Dowsett M, Easton DF, Spurdle AB:(2016)CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer.Endocr Relat Cancer. 2016;23(2): 77-91
  • Wu LM, Wang J, Conidi A, Zhao C, Wang H, Ford Z, Zhang L, Zweier C, Ayee BG, Maurel P, Zwijsen A, Chan JR, Jankowski MP, Huylebroeck D, Lu QR:(2016)Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination.Nat Neurosci. 2016;19(8): 1060-72
  • Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomäki K, Ambrosone C, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Barile M, Barkardottir RB, Barrowdale D, Beckmann L, Beckmann MW, Benitez J, Blank SV, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldes T, Caligo MA, Canzian F, Carpenter J, Chang-Claude J, Chanock SJ, Chung WK, Claes KB, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, de la Hoya M, Devilee P, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, dos-Santos-Silva I, Dumont M, Dunning AM, Eccles DM, Ehrencrona H, Ekici AB, Eliassen H, Ellis S, Fasching PA, Figueroa J, Flesch-Janys D, Försti A, Fostira F, Foulkes WD, Friebel T, Friedman E, Frost D, Gabrielson M, Gammon MD, Ganz PA, Gapstur SM, Garber J, Gaudet MM, Gayther SA, Gerdes AM, Ghoussaini M, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Gunter M, Haeberle L, Haiman CA, Hamann U, Hansen Tv, Hart S, Healey S, Heikkinen T, Henderson BE, Herzog J, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Humphreys K, Hunter DJ, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Jones M, Kabisch M, Kar S, Karlan BY, Khan S, Khaw KT, Kibriya MG, Knight JA, Ko YD, Konstantopoulou I, Kosma VM, Kristensen V, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Lee E, Le Marchand L, Lester J, Lindblom A, Lindor N, Lindström S, Liu J, Long J, Lubinski J, Mai PL, Makalic E, Malone KE, Mannermaa A, Manoukian S, Margolin S, Marme F, Martens JW, McGuffog L, Meindl A, Miller A, Milne RL, Miron P, Montagna M, Mazoyer S, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olopade OI, Olson JE, Osorio A, Park SK, Peeters PH, Peissel B, Peterlongo P, Peto J, Phelan CM, Pilarski R, Poppe B, Pylkäs K, Radice P, Rahman N, Rantala J, Rappaport C, Rennert G, Richardson A, Robson M, Romieu I, Rudolph A, Rutgers EJ, Sánchez MJ, Santella RM, Sawyer EJ, Schmidt DF, Schmidt MK, Schmutzler RK, Schumacher F, Scott R, Senter L, Sharma P, Simard J, Singer CF, Sinilnikova OM, Soucy P, Southey M, Steinemann D, Stenmark-Askmalm M, Stoppa-Lyonnet D, Swerdlow A, Szabo CI, Tamimi R, Tapper W, Teixeira MR, Teo SH, Terry MB, Thomassen M, Thompson D, Tihomirova L, Toland AE, Tollenaar RA, Tomlinson I, Truong T, Tsimiklis H, Teule A, Tumino R, Tung N, Turnbull C, Ursin G, van Deurzen CH, van Rensburg EJ, Varon-Mateeva R, Wang Z, Wang-Gohrke S, Weiderpass E, Weitzel JN, Whittemore A, Wildiers H, Winqvist R, Yang XR, Yannoukakos D, Yao S, Zamora MP, Zheng W, Hall P, Kraft P, Vachon C, Slager S, Chenevix-Trench G, Pharoah PD, Monteiro AA, García-Closas M, Easton DF, Antoniou AC:(2016)Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.Nat Commun. 2016;7(): 11375
  • Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, Oortveld MA, Kleefstra T, Kramer JM, Webber C, Huynen MA, Schenck A:(2016)Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.Am J Hum Genet. 2016;98(1): 149-64
  • Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG, DDD study:(2016)Clinical delineation of the PACS1-related syndrome--Report on 19 patients.Am J Med Genet A. 2016;170(3): 670-5
  • French JD, Johnatty SE, Lu Y, Beesley J, Gao B, Kalimutho M, Henderson MJ, Russell AJ, Kar S, Chen X, Hillman KM, Kaufmann S, Sivakumaran H, O'Reilly M, Wang C, Korbie DJ, Australian Ovarian Cancer Study Group , Australian Ovarian Cancer Study , Lambrechts D, Despierre E, Van Nieuwenhuysen E, Lambrechts S, Vergote I, Karlan B, Lester J, Orsulic S, Walsh C, Fasching PA, Beckmann MW, Ekici AB, Hein A, Matsuo K, Hosono S, Pisterer J, Hillemanns P, Nakanishi T, Yatabe Y, Goodman MT, Lurie G, Matsuno RK, Thompson PJ, Pejovic T, Bean Y, Heitz F, Harter P, du Bois A, Schwaab I, Hogdall E, Kjaer SK, Jensen A, Hogdall C, Lundvall L, Engelholm SA, Brown B, Flanagan JM, Metcalf MD, Siddiqui N, Sellers T, Fridley B, Cunningham J, Schildkraut JM, Iversen E, Weber RP, Brennan D, Berchuck A, Pharoah P, Harnett P, Norris MD, Haber M, Goode EL, Lee JS, Khanna KK, Meyer KB, Chenevix-Trench G, deFazio A, Edwards SL, MacGregor S, Ovarian Cancer Association Consortium:(2016)Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer.Oncotarget. 2016;7(6): 6353-68
  • Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dyba?a M, Yi? U, Ça?layan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Wechuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S, EuroEPINOMICS-RES MAE working group , Lemke JR, Heron D, Kluger G, Depienne C, Craiu D, De Jonghe P, Helbig I, Guerrini R, Lehesjoki AE, Marini C, Muhle H, Møller RS, Neubauer B, Pal D, Selmer K, Stephani U, Sterbova K, Striano P, Talvik T, von Spiczak S:(2016)Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.J Med Genet. 2016;53(8): 511-22
  • Kar SP, Beesley J, Amin Al Olama A, Michailidou K, Tyrer J, Kote-Jarai Z, Lawrenson K, Lindström 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, González-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, 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, 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, Lubi?ski J, Stanford JL, Benitez 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, García-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. 2016;6(9): 1052-67
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  • Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL:(2016)Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.J Clin Invest. 2016;126(7): 2575-87
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  • Painter JN, O'Mara TA, Marquart L, Webb PM, Attia J, Medland SE, Cheng T, Dennis J, Holliday EG, McEvoy M, Scott RJ, Ahmed S, Healey CS, Shah M, Gorman M, Martin L, Hodgson SV, Beckmann MW, Ekici AB, Fasching PA, Hein A, Rübner M, Czene K, Darabi H, Hall P, Li J, Dörk T, Dürst M, Hillemanns P, Runnebaum IB, Amant F, Annibali D, Depreeuw J, Lambrechts D, Neven P, Cunningham JM, Dowdy SC, Goode EL, Fridley BL, Winham SJ, Salvesen HB, Trovik J, Werner HM, Ashton KA, Otton G, Proietto A, Mints M, Tham E, Bolla MK, Michailidou K, Wang Q, Tyrer JP, Hopper JL, Peto J, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Chang-Claude J, Couch FJ, Giles GG, Kristensen VN, Cox A, Pharoah PD, Tomlinson I, Dunning AM, Easton DF, Thompson DJ, Spurdle AB, AOCS Group , for RENDOCAS , National Study of Endometrial Cancer Genetics Group (NSECG) , Australian National Endometrial Cancer Study Group (ANECS):(2016)Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer.Cancer Epidemiol Biomarkers Prev. 2016;25(11): 1503-1510
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  • Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C:(2016)Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.J Med Genet. 2016;53(12): 820-827
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  • Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Bari? I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M:(2016)The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?PLoS ONE. 2016;11(12): e0167984
  • Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG:(2016)Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.Am J Hum Genet. 2016;99(3): 785
  • Huebner H, Fahlbusch FB, Ekici AB, Vasileiou G, Beckmann MW, Strick R, Ruebner M:(2016)KNOCK-OUT OF THE HUMAN ENDOGENOUS RETROVIRUS ERV3 USING CRISPR/CAS9 TECHNOLOGYPlacenta. 2016;45(): 107-108
  • Mignot C, von Stulpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybala M, Yis U, Caglayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Wechuysen S, Myers CT, Mefford HC, Hortnagel K, Biskup S, Lemke JR, Heron D, Kluger G, Depienne C, EuroEPINOMICS-Res MAE Working Grp , Genetic & Neurodev Spectrum:(2016)Erratum: Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.J Med Genet. 2016;53(10): 720-720
  • Budu-Aggrey A, Bowes J, Loehr S, Uebe S, Zervou MI, Helliwell P, Ryan AW, Kane D, Korendowych E, Giardina E, Packham J, McManus R, Fitzgerald O, McHugh N, Behrens F, Burkhardt H, Hüffmeier U, Ho P, Martin J, Castaneda S, Goulielmos G, Reis A, Barton A:(2016)VALIDATION OF A DISTINCT PSORIATIC ARTHRITIS RISK VARIANT AT IL23RRheumatology (Oxford). 2016;55 1(): 150-151
  • Garcia-Cuellar MP, Büttner C, Bartenhagen C, Dugas M, Slany RK:(2016)Leukemogenic MLL-ENL Fusions Induce Alternative Chromatin States to Drive a Functionally Dichotomous Group of Target Genes.Cell Rep. 2016;15(2): 310-22
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