Publikationen 2012

Schoeps A, Rudolph A, Seibold P, Dunning AM, Milne RL, Bojesen SE, Swerdlow A, Andrulis I, Brenner H, Behrens S, Orr N, Jones M, Ashworth A, Li J, Cramp H, Connley D, Czene K, Darabi H, Chanock SJ, Lissowska J, Figueroa JD, Knight J, Glendon G, Mulligan AM, Dumont M, Severi G, Baglietto L, Olson J, Vachon C, Purrington K, Moisse M, Neven P, Wildiers H, Spurdle A, Kosma VM, Kataja V, Hartikainen JM, Hamann U, Ko YD, Dieffenbach AK, Arndt V, Stegmaier C, Malats N, Arias Perez JI, Benitez J, Flyger H, Nordestgaard BG, Truong T, Cordina-Duverger E, Menegaux F, Dos Santos Silva I, Fletcher O, Johnson N, Häberle L, Beckmann MW, Ekici AB, Braaf L, Atsma F, van den Broek AJ, Makalic E, Schmidt DF, Southey MC, Cox A, Simard J, Giles GG, Lambrechts D, Mannermaa A, Brauch H, Guénel P, Peto J, Fasching PA, Hopper J, Flesch-Janys D, Couch F, Chenevix-Trench G, Pharoah PD, García-Closas M, Schmidt MK, Hall P, Easton DF, Chang-Claude J: (2014) Identification of new genetic susceptibility Loci for breast cancer through consideration of gene-environment interactions. Genet Epidemiol. 2014;38(1): 84-93
Justenhoven C, Pentimalli D, Rabstein S, Harth V, Lotz A, Pesch B, Brüning T, Dörk T, Schürmann P, Bogdanova N, Park-Simon TW, Couch FJ, Olson JE, Fasching PA, Beckmann MW, Häberle L, Ekici A, Hall P, Czene K, Liu J, Li J, Baisch C, Hamann U, Ko YD, Brauch H: (2014) CYP2B6*6 is associated with increased breast cancer risk. Int J Cancer. 2014;134(2): 426-30
Milne RL, Herranz J, Michailidou K, Dennis J, Tyrer JP, Zamora MP, Arias-Perez JI, González-Neira A, Pita G, Alonso MR, Wang Q, Bolla MK, Czene K, Eriksson M, Humphreys K, Darabi H, Li J, Anton-Culver H, Neuhausen SL, Ziogas A, Clarke CA, Hopper JL, Dite GS, Apicella C, Southey MC, Chenevix-Trench G, kConFab Investigators , Australian Ovarian Cancer Study Group , Swerdlow A, Ashworth A, Orr N, Schoemaker M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Bojesen SE, Nordestgaard BG, Flyger H, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon C, Purrington K, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Dunning AM, Shah M, Guénel P, Truong T, Sanchez M, Mulot C, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, Collée JM, Jager A, Cox A, Brock IW, Reed MW, Devilee P, Tollenaar RA, Seynaeve C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Dumont M, Soucy P, Dörk T, Bogdanova NV, Hamann U, Försti A, Rüdiger T, Ulmer HU, Fasching PA, Häberle L, Ekici AB, Beckmann MW, Fletcher O, Johnson N, Dos Santos Silva I, Peto J, Radice P, Peterlongo P, Peissel B, Mariani P, Giles GG, Severi G, Baglietto L, Sawyer E, Tomlinson I, Kerin M, Miller N, Marme F, Burwinkel B, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Alnæs GG, Kristensen V, Børresen-Dale AL, García-Closas M, Chanock SJ, Lissowska J, Figueroa JD, Schmidt MK, Broeks A, Verhoef S, Rutgers EJ, Brauch H, Brüning T, Ko YD, The GENICA Network , Couch FJ, Toland AE, The TNBCC , Yannoukakos D, Pharoah PD, Hall P, Benitez J, Malats N, Easton DF: (2014) A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium. Hum Mol Genet. 2014;23(7): 1934-46
Purrington KS, Slager S, Eccles D, Yannoukakos D, Fasching PA, Miron P, Carpenter J, Chang-Claude J, Martin NG, Montgomery GW, Kristensen V, Anton-Culver H, Goodfellow P, Tapper WJ, Rafiq S, Gerty SM, Durcan L, Konstantopoulou I, Fostira F, Vratimos A, Apostolou P, Konstanta I, Kotoula V, Lakis S, Dimopoulos MA, Skarlos D, Pectasides D, Fountzilas G, Beckmann MW, Hein A, Ruebner M, Ekici AB, Hartmann A, Schulz-Wendtland R, Renner SP, Janni W, Rack B, Scholz C, Neugebauer J, Andergassen U, Lux MP, Haeberle L, Clarke C, Pathmanathan N, Rudolph A, Flesch-Janys D, Nickels S, Olson JE, Ingle JN, Olswold C, Slettedahl S, Eckel-Passow JE, Anderson SK, Visscher DW, Cafourek V, Sicotte H, Prodduturi N, Weiderpass E, Bernstein L, Ziogas A, Ivanovich J, Giles GG, Baglietto L, Southey M, Kosma VM, Fischer HP, Network TG, Reed MW, Cross SS, Deming-Halverson S, Shrubsole M, Cai Q, Shu XO, Daly M, Weaver J, Ross E, Klemp J, Sharma P, Torres D, Rüdiger T, Wölfing H, Ulmer HU, Försti A, Khoury T, Kumar S, Pilarski R, Shapiro CL, Greco D, Heikkilä P, Aittomäki K, Blomqvist C, Irwanto A, Liu J, Pankratz VS, Wang X, Severi G, Mannermaa A, Easton D, Hall P, Brauch H, Cox A, Zheng W, Godwin AK, Hamann U, Ambrosone C, Toland AE, Nevanlinna H, Vachon CM, Couch FJ: (2014) Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis. 2014;35(5): 1012-9
Charbonneau B, Block MS, Bamlet WR, Vierkant RA, Kalli KR, Fogarty Z, Rider DN, Sellers TA, Tworoger SS, Poole E, Risch HA, Salvesen HB, Kiemeney LA, Baglietto L, Giles GG, Severi G, Trabert B, Wentzensen N, Chenevix-Trench G, for AOCS/ACS group , Whittemore AS, Sieh W, Chang-Claude J, Bandera EV, Orlow I, Terry K, Goodman MT, Thompson PJ, Cook LS, Rossing MA, Ness RB, Narod SA, Kupryjanczyk J, Lu K, Butzow R, Dörk T, Pejovic T, Campbell I, Le ND, Bunker CH, Bogdanova N, Runnebaum IB, Eccles D, Paul J, Wu AH, Gayther SA, Hogdall E, Heitz F, Kaye SB, Karlan BY, Anton-Culver H, Gronwald J, Hogdall CK, Lambrechts D, Fasching PA, Menon U, Schildkraut J, Pearce CL, Levine DA, Kjaer SK, Cramer D, Flanagan JM, Phelan CM, Brown R, Massuger LF, Song H, Doherty JA, Krakstad C, Liang D, Odunsi K, Berchuck A, Jensen A, Lubinski J, Nevanlinna H, Bean YT, Lurie G, Ziogas A, Walsh C, Despierre E, Brinton L, Hein A, Rudolph A, Dansonka-Mieszkowska A, Olson SH, Harter P, Tyrer J, Vitonis AF, Brooks-Wilson A, Aben KK, Pike MC, Ramus SJ, Wik E, Cybulski C, Lin J, Sucheston L, Edwards R, McGuire V, Lester J, du Bois A, Lundvall L, Wang-Gohrke S, Szafron LM, Lambrechts S, Yang H, Beckmann MW, Pelttari LM, Van Altena AM, Van Den Berg D, Halle MK, Gentry-Maharaj A, Schwaab I, Chandran U, Menkiszak J, Ekici AB, Wilkens LR, Leminen A, Modugno F, Friel G, Rothstein JH, Vergote I, García-Closas M, Hildebrandt MA, Sobiczewski P, Kelemen LE, Pharoah PD, Moysich K, Knutson KL, Cunningham JM, Fridley BL, Goode EL: (2014) Risk of Ovarian Cancer and the NF-?B Pathway: Genetic Association with IL1A and TNFSF10. Cancer Res. 2014;74(3): 852-61
Raaz-Schrauder D, Ekici AB, Klinghammer L, Stumpf C, Achenbach S, Herrmann M, Reis A, Garlichs CD: (2014) The proinflammatory effect of C-reactive protein on human endothelial cells depends on the Fc?RIIa genotype. Thromb Res. 2014;133(3): 426-32
Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA: (2014) Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet. 2014;10(5): e1004320
Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS: (2014) Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney Int. 2014;86(3): 589-99
Fasching PA, Weihbrecht S, Haeberle L, Gasparyan A, Villalobos IE, Ma Y, Ekici AB, Wachter DL, Hartmann A, Beckmann MW, Slamon DJ, Press MF: (2014) HER2 and TOP2A amplification in a hospital-based cohort of breast cancer patients: associations with patient and tumor characteristics. Breast Cancer Res Treat. 2014;145(1): 193-203
Rogler A, Hoja S, Giedl J, Ekici AB, Wach S, Taubert H, Goebell PJ, Wullich B, Stöckle M, Lehmann J, Petsch S, Hartmann A, Stoehr R: (2014) Loss of MTUS1/ATIP expression is associated with adverse outcome in advanced bladder carcinomas: data from a retrospective study. BMC Cancer. 2014;14(): 214
Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB: (2014) Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014;94(5): 649-61
Reuter MS, Sass JO, Leis T, Köhler J, Mayr JA, Feichtinger RG, Rauh M, Schanze I, Bähr L, Trollmann R, Uebe S, Ekici AB, Reis A: (2014) HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. Am J Med Genet A. 2014;164(12): 3162-9
Hein A, Bayer CM, Schrauder MG, Häberle L, Heusinger K, Strick R, Ruebner M, Lux MP, Renner SP, Schulz-Wendtland R, Ekici AB, Hartmann A, Beckmann MW, Fasching PA: (2014) Polymorphisms in the RANK/RANKL genes and their effect on bone specific prognosis in breast cancer patients. Biomed Res Int. 2014;2014(): 842452
Agarwal D, Pineda S, Michailidou K, Herranz J, Pita G, Moreno LT, Alonso MR, Dennis J, Wang Q, Bolla MK, Meyer KB, Menéndez-Rodríguez P, Hardisson D, Mendiola M, González-Neira A, Lindblom A, Margolin S, Swerdlow A, Ashworth A, Orr N, Jones M, Matsuo K, Ito H, Iwata H, Kondo N, kConFab Investigators , Australian Ovarian Cancer Study Group , Hartman M, Hui M, Lim WY, Iau PT, Sawyer E, Tomlinson I, Kerin M, Miller N, Kang D, Choi J-, Park SK, Noh D-, Hopper JL, Schmidt DF, Makalic E, Southey MC, Teo SH, Yip CH, Sivanandan K, Tay W-, Brauch H, Brüning T, Hamann U, GENICA Network , Dunning AM, Shah M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Schmidt MK, Broeks A, Rosenberg EH, van't Veer LJ, Fasching PA, Renner SP, Ekici AB, Beckmann MW, Shen C-, Hsiung C-, Yu J-, Hou M-, Blot W, Cai Q, Wu AH, Tseng C-, Van Den Berg D, Stram DO, Cox A, Brock IW, Reed MW, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Zheng W, Deming-Halverson S, Shrubsole MJ, Long J, Shu X-, Lu W, Gao Y-, Zhang B, Radice P, Peterlongo P, Manoukian S, Mariette F, Sangrajrang S, McKay J, Couch FJ, Toland AE, TNBCC , Yannoukakos D, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Marme F, Burwinkel B, Guénel P, Truong T, Sanchez M, Mulot C, Bojesen SE, Nordestgaard BG, Flyer H, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Mannermaa A, Kataja V, Kosma V-, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon C, Purrington K, Giles GG, Severi G, Baglietto L, Haiman CA, Henderson BE, Schumacher F, Marchand LL, Simard J, Dumont M, Goldberg MS, Labréche F, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Devilee P, Tollenaar RA, Seynaeve C, Garcia-Closas M, Chanock SJ, Lissowska J, Figueroa JD, Czene K, Eriksson M, Humphreys K, Darabi H, Hooning MJ, Kriege M, Collée JM, Tilanus-Linthorst M, Li J, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova N, Dörk T, Hall P, Chenevix-Trench G, Easton DF, Pharroah PD, Arias-Perez JI, Zamora P, Benítez J, Milne RL, Berchuck A, Eeles RA, Amin Al Olama A, Kote-Jarai Z, Benlloch S, Antoniou A, McGuffog L, Offit K, Lee A, Dicks E, Luccarini C, Tessier DC, Bacot F, Vincent D, LaBoissière S, Robidoux F, Nielsen SF, Cunningham JM, Windebank SA, Hilker CA, Meyer J, Angelakos M, Maskiell J, Cornelissen S, van der Schoot E, Rutgers E, Verhoef S, Hogervorst F, Boonyawongviroj P, Siriwanarungsan P, Hein A, Schrauder M, Rübner M, Oeser S, Landrith S, Williams E, Ryder-Mills E, Sargus K, McInerney N, Colleran G, Rowan A, Jones A, of Sohn C, Schneeweiss A, Bugert P, Osorio A, Barroso A, Fernández V, González-Niera M, Malats N, Real F, Herráez B, Álvarez N, Díaz E, Miguel-Martin M, Bernstein L, Lacey J, Wang S, Ma H, Lu Y, Clague DeHart J, Deapen D, Pinder R, Lee E, Schumacher F, Horn-Ross P, Reynolds P, Nelson D, Park H, Ziegler H, Wolf S, Hermann V, Fischer-Bosch M, Lo WY, Justenhoven C, Yon-Dschun K, Baisch C, Fischer HP, Pesch B, Rabstein S, Lotz A, Harth V, Heikkinen T, Erkkilä I, Aaltonene K, von Smitten K, Antonenkova N, Hillemanns P, Christiansen H, Myöhänen E, Kemiläinen H, Thorne H, Niedermayr E, Botwell D, Chenevix-Trench G, deFazio A, Gertig D, Green A, Webb P, Parsons P, Hayward N, Webb P, Whiteman D, Fung A, Yashiki J, Peuteman G, Smeets D, Van Brussel T, Corthouts K, Obi N, Heinz J, Behrens S, Eilber U, Celik M, Olchers T, Peissel B, Scuvera G, Zaffaroni D, Bonanni B, Barile M, Feroce I, Tranchant M, Valois MF, Turgeon A, Heguy L, Yee PS, Kang P, Nee KI, Mariapun S, Sook-Ye Y, Lee D, Ching TY, Mohd Taib NA, Otsukka M, Mononen K, Selander T, Weerasooriya N, Krol-Warmerdam E, Molenaar J, Blom J, Brinton L, Szeszenia-Dabrowska N, Peplonska B, Zatonski W, Chao P, Stagner M, Bos P, Blom J, Crepin E, Nieuwlaat A, Heemskerk A, Higham S, Cross S, Cramp H, Conley D, Luccarini C, Conroy D, Baynes C, Chua K, Pilarski R: (2014) FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium. Br J Cancer. 2014;110(4): 1088-100
Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG: (2014) CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 2014;157(3): 651-63
Charbonneau B, Moysich KB, Kalli KR, Oberg AL, Vierkant RA, Fogarty ZC, Block MS, Maurer MJ, Goergen KM, Fridley BL, Cunningham JM, Rider DN, Preston C, Hartmann LC, Lawrenson K, Wang C, Tyrer J, Song H, deFazio A, Johnatty SE, Doherty JA, Phelan CM, Sellers TA, Ramirez SM, Vitonis AF, Terry KL, Van Den Berg D, Pike MC, Wu AH, Berchuck A, Gentry-Maharaj A, Ramus SJ, Diergaarde B, Shen H, Jensen A, Menkiszak J, Cybulski C, Lubi?ski J, Ziogas A, Rothstein JH, McGuire V, Sieh W, Lester J, Walsh C, Vergote I, Lambrechts S, Despierre E, García-Closas M, Yang H, Brinton LA, Spiewankiewicz B, Rzepecka IK, Dansonka-Mieszkowska A, Seibold P, Rudolph A, Paddock LE, Orlow I, Lundvall L, Olson SH, Hogdall CK, Schwaab I, du Bois A, Harter P, Flanagan JM, Brown R, Paul J, Ekici AB, Beckmann MW, Hein A, Eccles D, Lurie G, Hays LE, Bean YT, Pejovic T, Goodman MT, Campbell I, Fasching PA, Konecny G, Kaye SB, Heitz F, Hogdall E, Bandera EV, Chang-Claude J, Kupryjanczyk J, Wentzensen N, Lambrechts D, Karlan BY, Whittemore AS, Culver HA, Gronwald J, Levine DA, Kjaer SK, Menon U, Schildkraut JM, Pearce CL, Cramer DW, Rossing MA, Chenevix-Trench G, AOCS Group , ACS , Pharoah PD, Gayther SA, Ness RB, Odunsi K, Sucheston LE, Knutson KL, Goode EL: (2014) Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome. Cancer Immunol Res. 2014;2(4): 332-40
Rohde D, Schmitt HJ, Winterpacht A, Münster T: (2014) Duchenne muscular dystrophy and malignant hyperthermia: a genetic study of the ryanodine receptor in 47 patients. Eur J Anaesthesiol. 2014;31(6): 341-2
Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M: (2014) Genome-wide UPD screening in patients with intellectual disability. Eur J Hum Genet. 2014;22(10): 1233-5
Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, de Leeuw N, Qamar R, van Bokhoven H: (2014) A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. Gene. 2014;538(1): 30-5
Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G: (2014) Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet. 2014;133(7): 939-49
Gregor A, Kramer JM, van der Voet M, Schanze I, Uebe S, Donders R, Reis A, Schenck A, Zweier C: (2014) Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila. Hum Mutat. 2014;35(12): 1495-505
Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M: (2014) Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. Hum Mutat. 2014;35(9): 1092-100
Hedditch EL, Gao B, Russell AJ, Lu Y, Emmanuel C, Beesley J, Johnatty SE, Chen X, Harnett P, George J, Australian Ovarian Cancer Study Group , Williams RT, Flemming C, Lambrechts D, Despierre E, Lambrechts S, Vergote I, Karlan B, Lester J, Orsulic S, Walsh C, Fasching P, Beckmann MW, Ekici AB, Hein A, Matsuo K, Hosono S, Nakanishi T, Yatabe Y, 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 J, Metcalf MD, Siddiqui N, Sellers T, Fridley B, Cunningham J, Schildkraut J, Iversen E, Weber RP, Berchuck A, Goode E, Bowtell DD, Chenevix-Trench G, deFazio A, Norris MD, MacGregor S, Haber M, Henderson MJ, Bowtell D, Chenevix-Trench G, Green A, Webb P, deFazio A, Gertig D, Moore S, Hung J, Fereday S, Harrap K, Sadkowsky T, Pandeya N, Malt M, Mellon A, Robertson R, Vanden Bergh T, Jones M, Mackenzie P, Maidens J, Nattress K, Chiew YE, Stenlake A, Sullivan H, Alexander B, Ashover P, Brown S, Corrish T, Green L, Jackman L, Ferguson K, Martin K, Martyn A, Ranieri B, White J, Jayde V, Bowes L, Mamers P, Galletta L, Giles D, Hendley J, Alsop K, Schmidt T, Shirley H, Ball C, Young C, Viduka S, Tran H, Bilic S, Glavinas L, Brooks J, Stuart-Harris R, Kirsten F, Rutovitz J, Clingan P, Glasgow A, Proietto A, Braye S, Otton G, Shannon J, Bonaventura T, Stewart J, Begbie S, Friedlander M, Bell D, Baron-Hay S, Ferrier A, Gard G, Nevell D, Pavlakis N, Valmadre S, Young B, Camaris C, Crouch R, Edwards L, Hacker N, Marsden D, Robertson G, Beale P, Beith J, Carter J, Dalrymple C, Houghton R, Russell P, Anderson L, Links M, Grygiel J, Hill J, Brand A, Byth K, Jaworski R, Harnett P, Sharma R, Wain G, Ward B, Papadimos D, Crandon A, Cummings M, Horwood K, Obermair A, Perrin L, Wyld D, Nicklin J, Davy M, Oehler MK, Hall C, Dodd T, Healy T, Pittman K, Henderson D, Miller J, Pierdes J, Achan A, Blomfield P, Challis D, McIntosh R, Parker A, Brown B, Rome R, Allen D, Grant P, Hyde S, Robbie RL, Healy D, Jobling T, Manolitsas T, McNealage J, Rogers P, Susil B, Sumithran E, Simpson I, Phillips K, Rischin D, Fox S, Johnson D, Waring P, Lade S, Loughrey M, O'Callaghan N, Murray W, Mileshkin L, Allan P, Billson V, Pyman J, Neesham D, Quinn M, Hamilton A, McNally O, Underhill C, Bell R, Ng LF, Blum R, Ganju V, Hammond I, Leung Y, McCartney A, Stewart C, Buck M, Haviv I, Purdie D, Whiteman D, Zeps N, Gurry P, Hamilton A, Hankinson S, Meltzer P, Stuart-Harris R, Kirsten F, Rutovitz J, Clingan P, Glasgow A, Proietto A, Braye S, Otton G, Shannon J, Bonaventura T, Stewart J, Begbie S, Friedlander M, Bell D, Baron-Hay S, Ferrier A, Gard G, Nevell D, Pavlakis N, Valmadre S, Young B, Camaris C, Crouch R, Edwards L, Hacker N, Marsden D, Robertson G, Beale P, Beith J, Carter J, Dalrymple C, Houghton R, Russell P, Anderson L, Links M, Grygiel J, Hill J, Brand A, Byth K, Jaworski R, Harnett P, Sharma R, Wain G, Purdie D, Whiteman D, Ward B, Papadimos D, Crandon A, Cummings M, Horwood K, Obermair A, Perrin L, Wyld D, Nicklin J, Davy M, Oehler MK, Hall C, Dodd T, Healy T, Pittman K, Henderson D, Miller J, Pierdes J, Achan A, Blomfield P, Challis D, McIntosh R, Parker A, Brown B, Rome R, Allen D, Grant P, Hyde S, Robbie RL, Healy D, Jobling T, Manolitsas T, McNealage J, Rogers P, Susil B, Sumithran E, Simpson I, Haviv I, Phillips K, Rischin D, Fox S, Johnson D, Lade S, Waring P, Loughrey M, O'Callaghan N, Murray B, Mileshkin L, Allan P, Billson V, Pyman J, Neesham D, Quinn M, Hamilton A, McNally O, Underhill C, Bell R, Blum R, Ganju V, Hammond I, McCartney A, Stewart C, Leung Y, Buck M, Zeps N: (2014) ABCA transporter gene expression and poor outcome in epithelial ovarian cancer. J Natl Cancer Inst. 2014;106(7):
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Purrington KS, Slettedahl S, Bolla MK, Michailidou K, Czene K, Nevanlinna H, Bojesen SE, Andrulis IL, Cox A, Hall P, Carpenter J, Yannoukakos D, Haiman CA, Fasching PA, Mannermaa A, Winqvist R, Brenner H, Lindblom A, Chenevix-Trench G, Benitez J, Swerdlow A, Kristensen V, Guénel P, Meindl A, Darabi H, Eriksson M, Fagerholm R, Aittomäki K, Blomqvist C, Nordestgaard BG, Nielsen SF, Flyger H, Wang X, Olswold C, Olson JE, Mulligan AM, Knight JA, Tchatchou S, Reed MW, Cross SS, Liu J, Li J, Humphreys K, Clarke C, Scott R, ABCTB Investigators , Fostira F, Fountzilas G, Konstantopoulou I, Henderson BE, Schumacher F, Le Marchand L, Ekici AB, Hartmann A, Beckmann MW, Hartikainen JM, Kosma VM, Kataja V, Jukkola-Vuorinen A, Pylkäs K, Kauppila S, Dieffenbach AK, Stegmaier C, Arndt V, Margolin S, Australian Ovarian Cancer Study Group , kConFab Investigators , Balleine R, Arias Perez JI, Pilar Zamora M, Menéndez P, Ashworth A, Jones M, Orr N, Arveux P, Kerbrat P, Truong T, Bugert P, Toland AE, Ambrosone CB, Labrèche F, Goldberg MS, Dumont M, Ziogas A, Lee E, Dite GS, Apicella C, Southey MC, Long J, Shrubsole M, Deming-Halverson S, Ficarazzi F, Barile M, Peterlongo P, Durda K, Jaworska-Bieniek K, Tollenaar RA, Seynaeve C, GENICA Network , Brüning T, Ko YD, van Deurzen CH, Martens JW, Kriege M, Figueroa JD, Chanock SJ, Lissowska J, Tomlinson I, Kerin MJ, Miller N, Schneeweiss A, Tapper WJ, Gerty SM, Durcan L, McLean C, Milne RL, Baglietto L, Dos Santos Silva I, Fletcher O, Johnson N, Van't Veer LJ, Cornelissen S, Försti A, Torres D, Rüdiger T, Rudolph A, Flesch-Janys D, Nickels S, Weltens C, Floris G, Moisse M, Dennis J, Wang Q, Dunning AM, Shah M, Brown J, Simard J, Anton-Culver H, Neuhausen SL, Hopper JL, Bogdanova N, Dörk T, Zheng W, Radice P, Jakubowska A, Lubinski J, Devillee P, Brauch H, Hooning M, García-Closas M, Sawyer E, Burwinkel B, Marmee F, Eccles DM, Giles GG, Peto J, Schmidt M, Broeks A, Hamann U, Chang-Claude J, Lambrechts D, Pharoah PD, Easton D, Pankratz VS, Slager S, Vachon CM, Couch FJ: (2014) Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade. Hum Mol Genet. 2014;23(22): 6034-46
Milne RL, Burwinkel B, Michailidou K, Arias-Perez JI, Zamora MP, Menéndez-Rodríguez P, Hardisson D, Mendiola M, González-Neira A, Pita G, Alonso MR, Dennis J, Wang Q, Bolla MK, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Ko YD, Brauch H, Hamann U, GENICA Network , Andrulis IL, Knight JA, Glendon G, Tchatchou S, kConFab Investigators , Australian Ovarian Cancer Study Group , Matsuo K, Ito H, Iwata H, Tajima K, Li J, Brand JS, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Lambrechts D, Peuteman G, Christiaens MR, Smeets A, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Hartman M, Hui M, Yen Lim W, Wan Chan C, Marme F, Yang R, Bugert P, Lindblom A, Margolin S, García-Closas M, Chanock SJ, Lissowska J, Figueroa JD, Bojesen SE, Nordestgaard BG, Flyger H, Hooning MJ, Kriege M, van den Ouweland AM, Koppert LB, Fletcher O, Johnson N, dos-Santos-Silva I, Peto J, Zheng W, Deming-Halverson S, Shrubsole MJ, Long J, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Cox A, Cross SS, Reed MW, Schmidt MK, Broeks A, Cornelissen S, Braaf L, Kang D, Choi JY, Park SK, Noh DY, Simard J, Dumont M, Goldberg MS, Labrèche F, Fasching PA, Hein A, Ekici AB, Beckmann MW, Radice P, Peterlongo P, Azzollini J, Barile M, Sawyer E, Tomlinson I, Kerin M, Miller N, Hopper JL, Schmidt DF, Makalic E, Southey MC, Hwang Teo S, Har Yip C, Sivanandan K, Tay WT, Shen CY, Hsiung CN, Yu JC, Hou MF, Guénel P, Truong T, Sanchez M, Mulot C, Blot W, Cai Q, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Bogdanova N, Dörk T, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Shu XO, Lu W, Gao YT, Zhang B, Couch FJ, Toland AE, TNBCC , Yannoukakos D, Sangrajrang S, McKay J, Wang X, Olson JE, Vachon C, Purrington K, Severi G, Baglietto L, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Devilee P, Tollenaar RA, Seynaeve C, Czene K, Eriksson M, Humphreys K, Darabi H, Ahmed S, Shah M, Pharoah PD, Hall P, Giles GG, Benitez J, Dunning AM, Chenevix-Trench G, Easton DF, GENICA Network , Berchuck A, Eeles RA, Olama AA, Kote-Jarai Z, Benlloch S, Antoniou A, McGuffog L, Offit K, Lee A, Dicks E, Luccarini C, Tessier DC, Bacot F, Vincent D, LaBoissière S, Robidoux F, Nielsen SF, Cunningham JM, Windebank SA, Hilker CA, Meyer J, Angelakos M, Maskiell J, Schoot Ev, Rutgers E, Verhoef S, Hogervorst F, Boonyawongviroj P, Siriwanarungsan P, Schrauder M, Rübner M, Oeser S, Landrith S, Williams E, Ryder-Mills E, Sargus K, McInerney N, Colleran G, Rowan A, Jones A, Sohn C, Schneeweiß A, Bugert P, Álvarez N, Lacey J, Wang S, Ma H, Lu Y, Deapen D, Pinder R, Lee E, Schumacher F, Horn-Ross P, Reynolds P, Nelson D, Ziegler H, Wolf S, Hermann V, Lo WY, Justenhoven C, Baisch C, Fischer HP, Brüning T, Pesch B, Rabstein S, Lotz A, Harth V, Heikkinen T, Erkkilä I, Aaltonen K, Smitten Kv, Antonenkova N, Hillemanns P, Christiansen H, Myöhänen E, Kemiläinen H, Thorne H, Niedermayr E, Bowtell D, Chenevix-Trench G, deFazio A, Gertig D, Green A, Webb P, Green A, Parsons P, Hayward N, Webb P, Whiteman D, Fung A, Yashiki J, Peuteman G, Smeets D, Brussel TV, Corthouts K, Obi N, Heinz J, Behrens S, Eilber U, Celik M, Olchers T, Manoukian S, Peissel B, Scuvera G, Zaffaroni D, Bonanni B, Feroce I, Maniscalco A, Rossi A, Bernard L, Tranchant M, Valois MF, Turgeon A, Heguy L, Sze Yee P, Kang P, Nee KI, Mariapun S, Sook-Yee Y, Lee D, Ching TY, Taib NA, Otsukka M, Mononen K, Selander T, Weerasooriya N, Staff O, Krol-Warmerdam E, Molenaar J, Blom J, Brinton L, Szeszenia-Dabrowska N, Peplonska B, Zatonski W, Chao P, Stagner M, Bos P, Blom J, Crepin E, Nieuwlaat A, Heemskerk A, Higham S, Cross S, Cramp H, Connley D, Balasubramanian S, Brock I, Luccarini C, Conroy D, Baynes C, Chua K: (2014) Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2014;23(22): 6096-111
Sousa SB, Hennekam RC, Nicolaides-Baraitser Syndrome International Consortium , Abdul-Rahman O, Alders M, Azzarello-Burri S, Bottani A, Bowdin S, Castori M, Cormier-Daire V, Deardorff M, Del Campo Casanelles M, Devriendt K, Fauth C, Filges I, Fryer A, Garavelli L, Gillessen-Kaesback G, Hall B, Hirofumi O, Holder S, Hoyer J, Jenkins L, Klapeki J, Krajewska-Walasek M, Kosho T, Kuechler A, MacDermot K, Magee A, Mari F, Mathieu-Dramard M, Napier M, Pérez-Jurado LA, Picard FM, Morin G, Murday V, Pilch J, Ronan A, Rosser E, Santen GW, Scott R, Selicorni A, Shannon N, Santos-Simarro F, Stewart H, van den Boogaard MJ, Vilain C, Vermeesch J, Vogels A, Wakeling E, Wieczorek D, Yesil G, Zuffardi O, Zweier C, Sousa SB, Hennekam RC: (2014) Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet. 2014;166C(3): 302-14
Naumann A, Kraus C, Hoogeveen A, Ramirez CM, Doerfler W: (2014) Stable DNA methylation boundaries and expanded trinucleotide repeats: role of DNA insertions. J Mol Biol. 2014;426(14): 2554-66
Neacsu CD, Ko YP, Tagariello A, Røkenes Karlsen K, Neiss WF, Paulsson M, Wagener R: (2014) Matrilin-1 is essential for zebrafish development by facilitating collagen II secretion. J Biol Chem. 2014;289(3): 1505-18
Earp MA, Kelemen LE, Magliocco AM, Swenerton KD, Chenevix-Trench G, Australian Cancer Study , Australian Ovarian Cancer Study Group , Lu Y, Hein A, Ekici AB, Beckmann MW, Fasching PA, Lambrechts D, Despierre E, Vergote I, Lambrechts S, Doherty JA, Rossing MA, Chang-Claude J, Rudolph A, Friel G, Moysich KB, Odunsi K, Sucheston-Campbell L, Lurie G, Goodman MT, Carney ME, Thompson PJ, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Nevanlinna H, Pelttari LM, Butzow R, Bunker CH, Modugno F, Edwards RP, Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Karlan BY, Walsh C, Lester J, Jensen A, Kjær SK, Lundvall L, Sellers TA, Fridley BL, Goode EL, Cunningham JM, Vierkant RA, Giles GG, Baglietto L, Severi G, Southey MC, Liang D, Wu X, Lu K, Hildebrandt MA, Levine DA, Bisogna M, Schildkraut JM, Iversen ES, Weber RP, Berchuck A, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Chandran U, Orlow I, Olson SH, Wik E, Salvesen HB, Bjorge L, Halle MK, Van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Pejovic T, Bean YT, Cybulski C, Gronwald J, Lubinski J, Wentzensen N, Brinton LA, Lissowska J, García-Closas M, Dicks E, Dennis J, Easton DF, Song H, Tyrer JP, Pharoah PD, Eccles D, Campbell IG, Whittemore AS, McGuire V, Sieh W, Rothstein JH, Flanagan JM, Paul J, Brown R, Phelan CM, Risch HA, McLaughlin JR, Narod SA, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Gayther SA, Ramus SJ, Wu AH, Pearce CL, Pike MC, Dansonka-Mieszkowska A, Rzepecka IK, Szafron LM, Kupryjanczyk J, Cook LS, Le ND, Brooks-Wilson A, Ovarian Cancer Association Consortium: (2014) Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Hum Genet. 2014;133(5): 481-97
Johnson N, Dudbridge F, Orr N, Gibson L, Jones ME, Schoemaker MJ, Folkerd EJ, Haynes BP, Hopper JL, Southey MC, Dite GS, Apicella C, Schmidt MK, Broeks A, Van't Veer LJ, Atsma F, Muir K, Lophatananon A, Fasching PA, Beckmann MW, Ekici AB, Renner SP, Sawyer E, Tomlinson I, Kerin M, Miller N, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Guénel P, Truong T, Cordina E, Menegaux F, Bojesen SE, Nordestgaard BG, Flyger H, Milne R, Zamora MP, Arias Perez JI, Benitez J, Bernstein L, Anton-Culver H, Ziogas A, Clarke Dur C, Brenner H, Müller H, Arndt V, Dieffenbach AK, Meindl A, Heil J, Bartram CR, Schmutzler RK, Brauch H, Justenhoven C, Ko YD, GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network , Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Matsuo K, Dörk T, Bogdanova NV, Antonenkova NN, Lindblom A, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G, Beesley J, kConFab Investigators , Australian Ovarian Cancer Study Group , Wu AH, Van Den Berg D, Tseng CC, Lambrechts D, Smeets D, Neven P, Wildiers H, Chang-Claude J, Rudolph A, Nickels S, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Pensotti V, Couch FJ, Olson JE, Wang X, Fredericksen Z, Pankratz VS, Giles GG, Severi G, Baglietto L, Haiman C, Simard J, Goldberg MS, Labrèche F, Dumont M, Soucy P, Teo S, Yip CH, Phuah SY, Cornes BK, Kristensen VN, Grenaker Alnæs G, Børresen-Dale AL, Zheng W, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Devillee P, Figueroa J, Chanock SJ, Lissowska J, Sherman ME, Hall P, Schoof N, Hooning M, Hollestelle A, Oldenburg RA, Tilanus-Linthorst M, Liu J, Cox A, Brock IW, Reed MW, Cross SS, Blot W, Signorello LB, Pharoah PD, Dunning AM, Shah M, Kang D, Noh DY, Park SK, Choi JY, Hartman M, Miao H, Lim WY, Tang A, Hamann U, Försti A, Rüdiger T, Ulmer HU, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Slager S, Toland AE, Vachon C, Yannoukakos D, Shen CY, Yu JC, Huang CS, Hou MF, González-Neira A, Tessier DC, Vincent D, Bacot F, Luccarini C, Dennis J, Michailidou K, Bolla MK, Wang J, Easton DF, García-Closas M, Dowsett M, Ashworth A, Swerdlow AJ, Peto J, Dos Santos Silva I, Fletcher O, Justenhoven C, Brauch H, Ko YD, Baisch C, Fischer HP, Hamann U, Bruening T, Pesch B, Rabstein S, Spickenheuer A, Harth V, Amor D, Andrews L, Antill Y, Armitage S, Balleine R, Bankier A, Bastick P, Beilby J, Bennett B, Bennett I, Blackburn A, Bogwitz M, Brennan M, Brown M, Buckley M, Burgess M, Burke J, Butow P, Campbell I, Christian A, Chenevix-Trench G, Clarke C, Colley A, Cotton D, Culling B, Cummings M, Dawson SJ, deFazio A, Delatycki M, Dickson R, Dobrovic A, Dudding T, Edkins T, Edwards S, Farshid G, Fawcett S, Fenton G, Field M, Flanagan J, Fong P, Forbes J, Fox S, French J, Gaff C, Gardner M, Gattas M, Giles G, Gill G, Goldblatt J, Greening S, Grist S, Haan E, Harris M, Hart S, Hayward N, Healey S, Heiniger L, Hopper J, Hunt C, James P, Jenkins M, Kefford R, Kidd A, Kiely B, Kirk J, Kollias J, Koehler J, Kovalenko S, Lakhani S, Leary J, Lindeman G, Lipton L, Lobb L, Mann G, Marsh D, Meiser B, Milne R, Mitchell G, O'Connell S, Pachter N, Patterson B, Peters L, Phillips K, Price M, Purser L, Reeve T, Rickard E, Robinson B, Rudzki B, Salisbury E, Saunders C, Sambrook J, Saunus J, Sayer R, Scott C, Scott E, Scott R, Sexton A, Sharma R, Shelling A, Simpson P, Southey M, Spurdle A, Suthers G, Sykes P, Taylor J, Thompson E, Thorne H, Townshend S, Trainer A, Tucker K, Tyler J, Visvader J, Walker L, Waring P, Ward R, Warner B, Williams R, Winship I, Young MA, Bowtell DD, Green AC, Chenevix-Trench G, deFazio A, Gertig D, Webb PM: (2014) Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study. Breast Cancer Res. 2014;16(3): R51
Spurdle AB, Couch FJ, Parsons MT, McGuffog L, Barrowdale D, Bolla MK, Wang Q, Healey S, Schmutzler R, Wappenschmidt B, Rhiem K, Hahnen E, Engel C, Meindl A, Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Ellis S, Frost D, Platte R, Perkins J, Evans DG, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Scuvera G, Manoukian S, Bonanni B, Mariette F, Fortuzzi S, Viel A, Pasini B, Papi L, Varesco L, Balleine R, Nathanson KL, Domchek SM, Offitt K, Jakubowska A, Lindor N, Thomassen M, Jensen UB, Rantala J, Borg A, Andrulis IL, Miron A, Hansen Tv, Caldes T, Neuhausen SL, Toland AE, Nevanlinna H, Montagna M, Garber J, Godwin AK, Osorio A, Factor RE, Terry MB, Rebbeck TR, Karlan BY, Southey M, Rashid MU, Tung N, Pharoah PD, Blows FM, Dunning AM, Provenzano E, Hall P, Czene K, Schmidt MK, Broeks A, Cornelissen S, Verhoef S, Fasching PA, Beckmann MW, Ekici AB, Slamon DJ, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P, Aittomäki K, Muranen TA, Heikkilä P, Blomqvist C, Figueroa J, Chanock SJ, Brinton L, Lissowska J, Olson JE, Pankratz VS, John EM, Whittemore AS, West DW, Hamann U, Torres D, Ulmer HU, Rüdiger T, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Eccles DM, Tapper WJ, Durcan L, Jones L, Peto J, dos-Santos-Silva I, Fletcher O, Johnson N, Dwek M, Swann R, Bane AL, Glendon G, Mulligan AM, Giles GG, Milne RL, Baglietto L, McLean C, Carpenter J, Clarke C, Scott R, Brauch H, Brüning T, Ko YD, Cox A, Cross SS, Reed MW, Lubinski J, Jaworska-Bieniek K, Durda K, Gronwald J, Dörk T, Bogdanova N, Park-Simon TW, Hillemanns P, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Burwinkel B, Marme F, Surovy H, Yang R, Anton-Culver H, Ziogas A, Hooning MJ, Collée JM, Martens JW, Tilanus-Linthorst MM, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Lindblom A, Margolin S, Joseph V, Robson M, Rau-Murthy R, González-Neira A, Arias JI, Zamora P, Benitez J, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Peterlongo P, Zaffaroni D, Barile M, Capra F, Radice P, Teo SH, Easton DF, Antoniou AC, Chenevix-Trench G, Goldgar DE, ABCTB Investigators , EMBRACE Group , GENICA Network , HEBON Group , kConFab Investigators: (2014) Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Res. 2014;16(6): 3419
Naschberger E, Schellerer VS, Schaal U, Grenz S, Liebl A, Jenzer M, Britzen-Laurent N, Ekici AB, Klein-Hitpass L, Keck B, Wach S, Rau TT, Merkel S, Croner RS, Hohenberger W, Sturzi M: (2014) Tumor microenvironment-dependent heterogeneity and cytogenetic abnormality of tumor endothelial cells in human colorectal carcinoma J Clin Oncol. 2014;32 S(15): -
Eberhardt M, Nakajima J, Klinger AB, Neacsu C, Hühne K, O'Reilly AO, Kist AM, Lampe AK, Fischer K, Gibson J, Nau C, Winterpacht A, Lampert A: (2014) Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. J Biol Chem. 2014;289(4): 1971-80
Muschler MA, Lenz B, Hillemacher T, Kraus C, Kornhuber J, Frieling H, Bleich S: (2014) CAGn repeat of the androgen receptor is linked to proopiomelanocortin promoter methylation-relevance for craving of male alcohol-dependent patients? Psychopharmacology (Berl). 2014;231(10): 2059-66
Frederic Tran, Willems Marjolaine, Albrecht Beate, Sanchez Elodie, Puechberty Jacques, Endele Sabine, Schneider Anouck, Pallares NathalieRu, Missirian Chantal, Rivier Francois, Girard Manon, Holder Muriel, Manouvrier Sylvie, Touitou Isabelle, Lefort Genevieve, Sarda Pierre, Moncla Anne, Drunat Severine, Wieczorek Dagmar, Genevieve David: (2014) Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability Eur J Hum Genet. 2014;22(2): 289-292
Reuter MiriamS, Musante Luciana, Hu Hao, Diederich Stefan, Sticht Heinrich, Ekici ArifB, Uebe Steffen, Wienker ThomasF, Bartsch Oliver, Zechner Ulrich, Oppitz Cornelia, Keleman Krystyna, Abou Jamra Rami, Najmabadi Hossein, Schweiger Susann, Reis Andre, Kahrizi Kimia: (2014) NDST1 Missense Mutations in Autosomal Recessive Intellectual Disability Am J Med Genet A. 2014;164A(11): 2753-2763
Zweier Christiane, Rittinger Olaf, Bader Ingrid, Berland Siren, Cole Trevor, Degenhardt Franziska, Di Donato Nataliya, Graul-Neumann Luitgard, Hoyer Juliane, Lynch SallyAnn, Vlasak Ingrid, Wieczorek Dagmar: (2014) Females With de novo Aberrations in PHF6: Clinical Overlap of Borjeson-Forssman-Lehmann With Coffin-Siris Syndrome Am J Med Genet C Semin Med Genet. 2014;166(3): 290-301
Hueffmeier U, Waetzold M, Mohr J, Schoen MP, Moessner R: (2014) Successful therapy with anakinra in a patient with generalized pustular psoriasis carrying IL36RN mutations Br J Dermatol. 2014;170(1): 202-204
Hueffmeier Ulrike, Moessner Rotraut: (2014) Complex Role of TNF Variants in Psoriatic Arthritis and Treatment Response to Anti-TNF Therapy: Evidence and Concepts J Invest Dermatol. 2014;134(10): 2483-2485
Neacsu CristianDa, Ko Ya-Ping, Tagariello Andreas, Karlsen KristinaRo, Neiss WolframFri, Paulsson Mats, Wagener Raimund: (2014) Matrilin-1 Is Essential for Zebrafish Development by Facilitating Collagen II Secretion Journal of applied biological chemistry.. 2014;289(3): 1505-1518
Brunel-Geuder L, Fasching PA, Bani MR, Lohberg CR, Jud SM, Schrauder MG, Geisler K, Wagner S, Hoyer J, Reis A, Wenkel E, Schulz-Wendtland R, Beckmann MW, Lux MP: (2014) Is the care for women with a hereditary risk for breast and ovarian cancer fundable at all? - Health-economic analysis of genetic testing intensified early cancer detection and prophylactic surgery from the perspective of the health care system and the he Oncology Research and Treatment. 2014;37 1(): 33-33
Ruebner M, Strissel PL, Ekici AB, Stiegler E, Dammer U: (2014) Reduced Syncytin-1 Expression Levels in Placental Syndromes Correlates with Epigenetic Hypermethylation of the ERVW-1 Promoter Region (vol 8, e56145, 2013) PLoS ONE. 2014;9(8): e107215-

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