Zum Hauptinhalt springen

Publikationen 2016

Publikationen 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
  • Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, Duvesh R, Chen LJ, Li Z, Nongpiur ME, Perera SA, Qiao C, Wong HT, Sakai H, Barbosa de Melo M, Lee MC, Chan AS, Azhany Y, Dao TL, Ikeda Y, Perez-Grossmann RA, Zarnowski T, Day AC, Jonas JB, Tam PO, Tran TA, Ayub H, Akhtar F, Micheal S, Chew PT, Aljasim LA, Dada T, Luu TT, Awadalla MS, Kitnarong N, Wanichwecharungruang B, Aung YY, Mohamed-Noor J, Vijayan S, Sarangapani S, Husain R, Jap A, Baskaran M, Goh D, Su DH, Wang H, Yong VK, Yip LW, Trinh TB, Makornwattana M, Nguyen TT, Leuenberger EU, Park KH, Wiyogo WA, Kumar RS, Tello C, Kurimoto Y, Thapa SS, Pathanapitoon K, Salmon JF, Sohn YH, Fea A, Ozaki M, Lai JS, Tantisevi V, Khaing CC, Mizoguchi T, Nakano S, Kim CY, Tang G, Fan S, Wu R, Meng H, Nguyen TT, Tran TD, Ueno M, Martinez JM, Ramli N, Aung YM, Reyes RD, Vernon SA, Fang SK, Xie Z, Chen XY, Foo JN, Sim KS, Wong TT, Quek DT, Venkatesh R, Kavitha S, Krishnadas SR, Soumittra N, Shantha B, Lim BA, Ogle J, de Vasconcellos JP, Costa VP, Abe RY, de Souza BB, Sng CC, Aquino MC, Kosior-Jarecka E, Fong GB, Tamanaja VC, Fujita R, Jiang Y, Waseem N, Low S, Pham HN, Al-Shahwan S, Craven ER, Khan MI, Dada R, Mohanty K, Faiq MA, Hewitt AW, Burdon KP, Gan EH, Prutthipongsit A, Patthanathamrongkasem T, Catacutan MA, Felarca IR, Liao CS, Rusmayani E, Istiantoro VW, Consolandi G, Pignata G, Lavia C, Rojanapongpun P, Mangkornkanokpong L, Chansangpetch S, Chan JC, Choy BN, Shum JW, Than HM, Oo KT, Han AT, Yong VH, Ng XY, Goh SR, Chong YF, Hibberd ML, Seielstad M, Png E, Dunstan SJ, Chau NV, Bei J, Zeng YX, Karkey A, Basnyat B, Pasutto F, Paoli D, Frezzotti P, Wang JJ, Mitchell P, Fingert JH, Allingham RR, Hauser MA, Lim ST, Chew SH, Ebstein RP, Sakuntabhai A, Park KH, Ahn J, Boland G, Snippe H, Stead R, Quino R, Zaw SN, Lukasik U, Shetty R, Zahari M, Bae HW, Oo NL, Kubota T, Manassakorn A, Ho WL, Dallorto L, Hwang YH, Kiire CA, Kuroda M, Djamal ZE, Peregrino JI, Ghosh A, Jeoung JW, Hoan TS, Srisamran N, Sandragasu T, Set SH, Doan VH, Bhattacharya SS, Ho CL, Tan DT, Sihota R, Loon SC, Mori K, Kinoshita S, Hollander AI, Qamar R, Wang YX, Teo YY, Tai ES, Hartleben-Matkin C, Lozano-Giral D, Saw SM, Cheng CY, Zenteno JC, Pang CP, Bui HT, Hee O, Craig JE, Edward DP, Yonahara M, Neto JM, Guevara-Fujita ML, Xu L, Ritch R, Liza-Sharmini AT, Wong TY, Al-Obeidan S, Do NH, Sundaresan P, Tham CC, Foster PJ, Vijaya L, Tashiro K, Vithana EN, Wang N, Aung T: (2016) Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2016;48(5): 556-62
  • Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, Patrosso M, Weinreb RN, Penco S, Reis A, Pasutto F: (2016) Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. Orphanet J Rare Dis. 2016;11(1): 108
  • 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
  • Cheng TH, Thompson DJ, O'Mara TA, Painter JN, Glubb DM, Flach S, Lewis A, French JD, Freeman-Mills L, Church D, Gorman M, Martin L, National Study of Endometrial Cancer Genetics Group (NSECG) , Hodgson S, Webb PM, Australian National Endometrial Cancer Study Group (ANECS) , Attia J, Holliday EG, McEvoy M, Scott RJ, Henders AK, Martin NG, Montgomery GW, Nyholt DR, Ahmed S, Healey CS, Shah M, Dennis J, Fasching PA, Beckmann MW, Hein A, Ekici AB, Hall P, Czene K, Darabi H, Li J, Dörk T, Dürst M, Hillemanns P, Runnebaum I, Amant F, Schrauwen S, Zhao H, Lambrechts D, Depreeuw J, Dowdy SC, Goode EL, Fridley BL, Winham SJ, Salvesen HB, Trovik J, Werner HM, Ashton K, Otton G, Proietto T, Liu T, Mints M, Tham E, RENDOCAS , CHIBCHA Consortium , Li MJ, Yip SH, Wang J, Bolla MK, Michailidou K, Wang Q, Tyrer JP, Dunlop M, Houlston R, Palles C, Hopper JL, AOCS Group , 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, Cunningham JM, Pharoah PD, Dunning AM, Edwards SL, Easton DF, Tomlinson I, Spurdle AB: (2016) Five endometrial cancer risk loci identified through genome-wide association analysis. Nat Genet. 2016;48(6): 667-74
  • Popp B, Trollmann R, Büttner C, Caliebe A, Thiel CT, Hüffmeier U, Reis A, Zweier C: (2016) Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1. Eur J Med Genet. 2016;59(10): 549-53
  • Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Ça?layan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R: (2016) Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Am J Hum Genet. 2016;99(4): 912-916
  • 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, Castañeda S, Goulielmos G, Reis A, Barton A: (2016) Replication of a distinct psoriatic arthritis risk variant at the IL23R locus. Ann Rheum Dis. 2016;75(7): 1417-8
  • 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(1): 228-35
  • Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Ça?layan AO, Vajsar J, Bilguvar K, Ogur G, Abou Jamra R, Gunel M, Gleeson JG: (2016) Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet. 2016;99(5): 1181-1189
  • Löhr S, Uebe S, Behrens F, Böhm B, Köhm M, Traupe H, Oji V, Burkhardt H, Reis A, Hüffmeier U: (2016) Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients. Br J Dermatol. 2016;175(3): 639-41
  • Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, Livanov V, Choi S, Noé E, Patel P, Ho SP, Myocardial Infarction Exome Sequencing Study , Kirchgessner TG, Wandall HH, Hansen L, Bennett EP, Vakhrushev SY, Saleheen D, Kathiresan S, Brown CD, Abou Jamra R, LeGuern E, Clausen H, Rader DJ: (2016) Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents. Cell Metab. 2016;24(2): 234-45
  • Chung HR, Xu C, Fuchs A, Mund A, Lange M, Staege H, Schubert T, Bian C, Dunkel I, Eberharter A, Regnard C, Klinker H, Meierhofer D, Cozzuto L, Winterpacht A, Di Croce L, Min J, Will H, Kinkley S: (2016) PHF13 is a molecular reader and transcriptional co-regulator of H3K4me2/3. Elife. 2016;5():
  • Cabrera-Fuentes HA, Aragones J, Bernhagen J, Boening A, Boisvert WA, Bøtker HE, Bulluck H, Cook S, Di Lisa F, Engel FB, Engelmann B, Ferrazzi F, Ferdinandy P, Fong A, Fleming I, Gnaiger E, Hernández-Reséndiz S, Kalkhoran SB, Kim MH, Lecour S, Liehn EA, Marber MS, Mayr M, Miura T, Ong SB, Peter K, Sedding D, Singh MK, Suleiman MS, Schnittler HJ, Schulz R, Shim W, Tello D, Vogel CW, Walker M, Li QO, Yellon DM, Hausenloy DJ, Preissner KT: (2016) From basic mechanisms to clinical applications in heart protection, new players in cardiovascular diseases and cardiac theranostics: meeting report from the third international symposium on "New frontiers in cardiovascular research". Basic Res Cardiol. 2016;111(6): 69
  • 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
  • Hampras SS, Sucheston-Campbell LE, Cannioto R, Chang-Claude J, Modugno F, Dörk T, Hillemanns P, Preus L, Knutson KL, Wallace PK, Hong CC, Friel G, Davis W, Nesline M, Pearce CL, Kelemen LE, Goodman MT, Bandera EV, Terry KL, Schoof N, Eng KH, Clay A, Singh PK, Joseph JM, Aben KK, Anton-Culver H, Antonenkova N, Baker H, Bean Y, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell IG, Carty K, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Despierre E, Dicks E, Doherty JA, du Bois A, Dürst M, Easton D, Eccles D, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Gronwald J, Harrington P, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hogdall C, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kellar M, Kelley JL, Kiemeney LA, Klapdor R, Kolomeyevskaya N, Krakstad C, Kjaer SK, Kruszka B, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lissowska J, Liu S, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Moes-Sosnowska J, Narod SA, Nedergaard L, Nevanlinna H, Nickels S, Olson SH, Orlow I, Weber RP, Paul J, Pejovic T, Pelttari LM, Perkins B, Permuth-Wey J, Pike MC, Plisiecka-Halasa J, Poole EM, Risch HA, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schernhammer E, Schmitt K, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Tangen IL, Teo SH, Thompson PJ, Timorek A, Tsai YY, Tworoger SS, Tyrer J, van Altena AM, Vergote I, Vierkant RA, Walsh C, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Wu AH, Wu X, Woo YL, Yang H, Zheng W, Ziogas A, Gayther SA, Ramus SJ, Sellers TA, Schildkraut JM, Phelan CM, Berchuck A, Chenevix-Trench G, Cunningham JM, Pharoah PP, Ness RB, Odunsi K, Goode EL, Moysich KB: (2016) Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer. Oncotarget. 2016;7(43): 69097-69110
  • 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, Lindström 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, García-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, 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, Gorski B, Gronwald J, Menkiszak J, 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. 2016;53(12): 800-811
  • Lee AW, Templeman C, Stram DA, Beesley J, Tyrer J, Berchuck A, Pharoah PP, Chenevix-Trench G, Pearce CL, Ovarian Cancer Association Consortium , Ness RB, Dansonka-Mieszkowska A, Gentry-Maharaj A, Hein A, Whittemore AS, Jensen A, du Bois A, Brooks-Wilson A, Rudolph A, Jakubowska A, Wu AH, Ziogas A, Ekici AB, Leminen A, Rosen B, Spiewankiewicz B, Karlan BY, Trabert B, Fridley BL, Gilks CB, Krakstad C, Phelan CM, Cybulski C, Walsh C, Hogdall C, Cramer DW, Huntsman DG, Eccles D, Lambrechts D, Liang D, Levine DA, Iversen ES, Bandera EV, Poole EM, Goode EL, Van Nieuwenhuysen E, Hogdall E, Bruinsma F, Heitz F, Modugno F, Giles GG, Risch HA, Baker H, Salvesen HB, Nevanlinna H, Anton-Culver H, Song H, McNeish I, Campbell IG, Vergote I, Runnebaum IB, Tangen IL, Schwaab I, Gronwald J, Paul J, Lubinski J, Doherty JA, Chang-Claude J, Lester J, Schildkraut JM, McLaughlin JR, Lissowska J, Kupryjanczyk J, Tyrer J, Kelley JL, Rothstein JH, Cunningham JM, Lu K, Carty K, Terry KL, Aben KK, Moysich KB, Wicklund KG, Odunsi K, Kiemeney LA, Sucheston-Campbell L, Lundvall L, Massuger LF, Pelttari LM, Kelemen LE, Cook LS, Bjorge L, Nedergaard L, Brinton LA, Wilkens LR, Pike MC, Goodman MT, Bisogna M, Rossing MA, Beckmann MW, Dürst M, Southey MC, Kellar M, Hildebrandt MA, Siddiqui N, Antonenkova N, Bogdanova N, Le ND, Wentzensen N, Thompson PJ, Harrington P, Webb PM, Fasching PA, Hillemanns P, Harter P, Sobiczewski P, Weber RP, Butzow R, Edwards RP, Vierkant RA, Glasspool R, Orsulic S, Lambrechts S, Olson SH, Wang-Gohrke S, Lele S, Tworoger SS, Gayther SA, Missmer SA, Narod SA, Ramus SJ, Kjaer SK, Pejovic T, Dörk T, Eilber U, Menon U, McGuire V, Sieh W, Wu X, Bean Y, Shvetsov YB: (2016) Evidence of a genetic link between endometriosis and ovarian cancer. Fertil Steril. 2016;105(1): 35-43.e1-10
  • 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
  • D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study , 16p11.2 European Consortium , Simons Variation in Individuals Project (VIP) Consortium , Knoers VA, Martinet D, Belfiore M, Cuvellier JC, de Vries B, Delrue MA, Doco-Fenzy M, Lebel R, Leheup B, Lewis S, Mencarelli MA, Minet JC, Vincent-Delorme C, Moerman A, Mucciolo M, Ounap K, Rajcan-Separovic E, Renieri A, Sanlaville D, Faas BH, Koolen DA, Vulto-van Silfhout A, de Leeuw N, Rosenfeld JA, Filges I, Achatz E, Roetzer KM, Bonneau D, Guichet A, Lazaro L, Plessis G, Kroisel PM, Reis A, Jonveaux P, Chantot-Bastaraud S, Rauch A, Demeer B, Nordgren A, Labalme A, Ferrarini A, Ramelli GP, Guilmatre A, Joly-Helas G, Haize S, Layet V, Le Gallic S, de Fréminville B, Touraine R, Van Binsbergen E, Mathieu-Dramard M, Barth M, Blaumeiser B, Masurel A, Cailler P, Olivier-Faivre L, Malacarne M, Coutton C, Dieterich K, Satre V, Wallgren-Pettersson C, Tensgrom C, Kaksonen S, Duban-Bedu B, Holder M, Rossi M, Gaillard D, Bock D, Bednarek N, Guillin O, Bizzarri V, Flori E, Silengo M, Kooy RF, Aboura A, Beri M, Delobel B, Drunat S, Jaros Z, Kolk A, Reigo A, Zufferey F, Beckmann N, Faravelli F, Alupay H, Aaronson B, Ackerman S, Ankenman K, Anwar A, Atwell C, Bowe A, Beaudet AL, Benedetti M, Berg J, Berman J, Berry LN, Bibb AL, Blaskey L, Brennan J, Brewton CM, Buckner R, Bukshpun P, Burko J, Cali P, Cerban B, Chang Y, Cheong M, Chow V, Chu Z, Chudnovskaya D, Cornew L, Dale C, Dell J, Dempsey AG, Deschamps T, Earl R, Edgar J, Elgin J, Olson JE, Evans YL, Findlay A, Fischbach GD, Fisk C, Fregeau B, Gaetz B, Gaetz L, Garza S, Gerdts J, Glenn O, Gobuty SE, Golembski R, Greenup M, Heiken K, Hines K, Hinkley L, Jackson FI, Jenkins J, Jeremy RJ, Johnson K, Kanne SM, Kessler S, Khan SY, Ku M, Kuschner E, Laakman AL, Lam P, Lasala MW, Lee H, LaGuerre K, Levy S, Lian Cavanagh A, Llorens AV, Loftus Campe K, Luks TL, Marco EJ, Martin S, Martin AJ, Marzano G, Masson C, McGovern KE, McNally Keehn R, Miller DT, Miller FK, Moss TJ, Murray R, Nagarajan SS, Nowell KP, Owen J, Paal AM, Packer A, Page PZ, Paul BM, Peters A, Peterson D, Poduri A, Pojman NJ, Porche K, Proud MB, Qasmieh S, Ramocki MB, Reilly B, Roberts TP, Shaw D, Sinha T, Smith-Packard B, Snow Gallagher A, Swarnakar V, Thieu T, Triantafallou C, Vaughan R, Wakahiro M, Wallace A, Ward T, Wenegrat J, Wolken A: (2016) Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016;73(1): 20-30
  • 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 TECHNOLOGY Placenta. 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 IL23R Rheumatology (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
  • Brand V, Lehmann C, Umkehrer C, Bissinger S, Thier M, de Wouters M, Raemsch R, Jucknischke U, Haas A, Breuer S, Birzele F, Racek T, Reis M, Lorenzon E, Herting F, Stürzl M, Lorenz S, Kienast Y: (2016) Impact of selective anti-BMP9 treatment on tumor cells and tumor angiogenesis. Mol Oncol. 2016;10(10): 1603-1620
Öffnet Webseite der FAU - Friedrich Alexander Universität - Medizinische Fakultät Erlangen-Nürnberg
Öffnet PDF Zertifikat TÜV SÜD ISO 9001