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Publikationen 2013

Publikationen 2013

  • Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M: (2013) Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. Am J Med Genet A. 2013;161(12): 3012-7
  • Meyer KB, O'Reilly M, Michailidou K, Carlebur S, Edwards SL, French JD, Prathalingham R, Dennis J, Bolla MK, Wang Q, de Santiago I, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Schmidt MK, Broeks A, Van 't Veer LJ, Hogervorst FB, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Lux MP, Ekici AB, Beckmann MW, Peto J, Dos Santos Silva I, Fletcher O, Johnson N, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Zamora MP, Arias JI, Benitez J, Neuhausen S, Anton-Culver H, Ziogas A, Dur CC, Brenner H, Müller H, Arndt V, Stegmaier C, Meindl A, Schmutzler RK, Engel C, Ditsch N, Brauch H, Brüning T, Ko YD, GENICA Network , Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Yatabe Y, Dörk T, Helbig S, Bogdanova NV, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G, kConFab Investigators , Australian Ovarian Cancer Study Group , Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Thienpont B, Christiaens MR, Smeets A, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Bernard L, Couch FJ, Olson JE, Wang X, Purrington K, Giles GG, Severi G, Baglietto L, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, Phuah SY, Kristensen V, Grenaker Alnæs G, Børresen-Dale AL, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RA, Seynaeve CM, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson K, Hooning MJ, Martens JW, van den Ouweland AM, van Deurzen CH, Hall P, Li J, Liu J, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cox A, Reed MW, Blot W, Signorello LB, Cai Q, Pharoah PD, Ghoussaini M, Harrington P, Tyrer J, Kang D, Choi JY, Park SK, Noh DY, Hartman M, Hui M, Lim WY, Buhari SA, Hamann U, Försti A, Rüdiger T, Ulmer HU, Jakubowska A, Lubinski J, Jaworska K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Vachon C, Slager S, Fostira F, Pilarski R, Shen CY, Hsiung CN, Wu PE, Hou MF, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, Ponder BA, Dunning AM, Easton DF: (2013) Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1. Am J Hum Genet. 2013;93(6): 1046-60
  • Justenhoven C, Obazee O, Winter S, Rabstein S, Lotz A, Harth V, Pesch B, Brüning T, Baisch C, Hartikainen JM, Mannermaa A, Kosma VM, Kataja V, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Fasching PA, Beckmann M, Ekici AB, Hein A, Hall P, Li J, Chang-Claude J, Flesch-Janys D, Seibold P, Rudolph A, Hamann U, Ko YD, Brauch H: (2013) The UGT1A6_19_GG genotype is a breast cancer risk factor. Front Genet. 2013;4(): 104
  • Paul K, Kretzschmar D, Yilmaz A, Bärthlein B, Titze S, Wolf G, Busch M, GCKD-Study Investigators , Eitner F, Schlieper G, Findeisen K, Arweiler E, Ernst S, Unger M, Floege J, Schaeffner E, Baid-Agrawal S, Petzold K, Schindler R, Hilgers KF, Hübner S, Avendano S, Becker-Grosspietsch D, Köttgen A, Schultheiss U, Meder S, Mitsch E, Walz G, Lorenzen J, Kielstein JT, 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, Krane V, Schmiedeke D, Toncar S, Cavitt D, Wanner C, Franz S, Eckardt KU, Titze S, Hauck N, Seuchter SA, Hausknecht B, Rittmeier M, Weigel A, Prokosch HU, Bärthlein B, Haberländer K, Beck A, Ganslandt T, Stefan S, Knispel S, Dressel T, Gefeller O, Schmid M, Malzer M, Reis A, Ekici AB, Kronenberg F, Kollerits B, Weißensteiner H, Forer L, Schönherr S, Oefner P, Gronwald W: (2013) Circulating dendritic cell precursors in chronic kidney disease: a cross-sectional study. BMC Nephrol. 2013;14(): 274
  • Vergult S, Hoogeboom AJ, Bijlsma EK, Sante T, Klopocki E, De Wilde B, Jongmans M, Thiel C, Verheij JB, Perez-Aytes A, Van Esch H, Kuechler A, Barge-Schaapveld DQ, Sznajer Y, Mortier G, Menten B: (2013) Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. Genet Med. 2013;15(3): 195-202
  • Steinbusch C, van Roozendaal K, Tserpelis D, Smeets E, Kranenburg-de Koning T, de Waal K, Zweier C, Rauch A, Hennekam R, Blok M, Schrander-Stumpel C: (2013) Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Clin Genet. 2013;83(1): 73-77
  • Delahanty R, Xiang YB, Spurdle AB, Beeghly-Fadiel A, Long J, Thompson DJ, Tomlinson I, Yu H, Lambrechts D, Dörk T, Goodman MT, Zheng Y, Salvesen H, Bao PP, Amant F, Beckmann MW, Coenegrachts L, Coosemans A, Dubrowinskaja N, Dunning A, Runnebaum IB, Easton DF, Ekici AB, Fasching PA, Halle M, Hein A, Howarth K, Gorman M, Kaydarova D, Krakstad C, Lose FA, Lu L, Lurie G, O'Mara T, Matsuno RK, Pharoah P, Risch HA, Corssen M, Trovik J, Turmanov N, Wen W, Lu W, Cai Q, Zheng W, Shu XO: (2013) Polymorphisms in inflammation pathway genes and endometrial cancer risk. Cancer Epidemiol Biomarkers Prev. 2013;22(2): 216-23
  • Frankenberger M, Ekici AB, Angstwurm MW, Hoffmann H, Hofer TP, Heimbeck I, Meyer P, Lohse P, Wjst M, Häussinger K, Reis A, Ziegler-Heitbrock L: (2013) A defect of CD16-positive monocytes can occur without disease. Immunobiology. 2013;218(2): 169-74
  • Husar-Memmer E, Ekici A, Al Kaissi A, Sticht H, Manger B, Schett G, Zwerina J: (2013) Premature Osteoarthritis as Presenting Sign of Type II Collagenopathy: A Case Report and Literature Review. Semin Arthritis Rheum. 2013;42(4): 355-60
  • Ng W, Pasutto F, Bardakjian T, Wilson M, Watson G, Schneider A, Mackey D, Grigg J, Zenker M, Jamieson R: (2013) A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. Clin Genet. 2013;83(2): 162-168
  • Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R: (2013) Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013;92(4): 575-83
  • Wach S, Nolte E, Theil A, Stöhr C, T Rau T, Hartmann A, Ekici A, Keck B, Taubert H, Wullich B: (2013) MicroRNA profiles classify papillary renal cell carcinoma subtypes. Br J Cancer. 2013;109(3): 714-22
  • French JD, Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S, Maranian MJ, O'Reilly M, Hillman KM, Betts JA, Carroll T, Bailey PJ, Dicks E, Beesley J, Tyrer J, Maia AT, Beck A, Knoblauch NW, Chen C, Kraft P, Barnes D, González-Neira A, Alonso MR, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Conroy D, Dennis J, Bolla MK, Wang Q, Hopper JL, Southey MC, Schmidt MK, Broeks A, Verhoef S, Cornelissen S, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Loehberg CR, Ekici AB, Beckmann MW, Peto J, Dos Santos Silva I, Johnson N, Aitken Z, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Zamora MP, Arias Pérez JI, Benitez J, Anton-Culver H, Brenner H, Muller H, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Engel C, Brauch H, Hamann U, Justenhoven C, GENICA Network , Aaltonen K, Heikkilä P, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Sueta A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, kConFab Investigators , Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Peeters S, Smeets A, Floris G, Chang-Claude J, Rudolph A, Nickels S, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Sardella D, Couch FJ, Wang X, Pankratz VS, Lee A, Giles GG, Severi G, Baglietto L, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, Ng CH, Vithana EN, Kristensen V, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Devilee P, Seynaeve C, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Klevebring D, Schoof N, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Liu J, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cox A, Balasubramanian SP, Blot W, Signorello LB, Cai Q, Pharoah PD, Healey CS, Shah M, Pooley KA, Kang D, Yoo KY, Noh DY, Hartman M, Miao H, Sng JH, Sim X, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Sangrajrang S, Gaborieau V, McKay J, Toland AE, Ambrosone CB, Yannoukakos D, Godwin AK, Shen CY, Hsiung CN, Wu PE, Chen ST, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, Ponder BA, Nevanlinna H, Brown MA, Chenevix-Trench G, Easton DF, Dunning AM: (2013) Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet. 2013;92(4): 489-503
  • Körber A, Mossner R, Renner R, Sticht H, Traupe H, Wilsmann-Theis D, Sticherling M, Reis A, Hueffmeier U: (2013) Mutations of IL36RN in four patients with generalized pustular psoriasis of German, Turkish and Iraquian origin Exp Dermatol. 2013;22(3): E22-E22
  • Shen H, Fridley BL, Song H, Lawrenson K, Cunningham JM, Ramus SJ, Cicek MS, Tyrer J, Stram D, Larson MC, Köbel M, PRACTICAL Consortium , Ziogas A, Zheng W, Yang HP, Wu AH, Wozniak EL, Woo YL, Winterhoff B, Wik E, Whittemore AS, Wentzensen N, Weber RP, Vitonis AF, Vincent D, Vierkant RA, Vergote I, Van Den Berg D, van Altena AM, Tworoger SS, Thompson PJ, Tessier DC, Terry KL, Teo SH, Templeman C, Stram DO, Southey MC, Sieh W, Siddiqui N, Shvetsov YB, Shu XO, Shridhar V, Wang-Gohrke S, Severi G, Schwaab I, Salvesen HB, Rzepecka IK, Runnebaum IB, Rossing MA, Rodríguez-Rodríguez L, Risch HA, Renner SP, Poole EM, Pike MC, Phelan CM, Pelttari LM, Pejovic T, Paul J, Orlow I, Omar SZ, Olson SH, Odunsi K, Nickels S, Nevanlinna H, Ness RB, Narod SA, Nakanishi T, Moysich KB, Monteiro AN, Moes-Sosnowska J, Modugno F, Menon U, McLaughlin JR, McGuire V, Matsuo K, Adenan NA, Massuger LF, Lurie G, Lundvall L, Lubi?ski J, Lissowska J, Levine DA, Leminen A, Lee AW, Le ND, Lambrechts S, Lambrechts D, Kupryjanczyk J, Krakstad C, Konecny GE, Kjaer SK, Kiemeney LA, Kelemen LE, Keeney GL, Karlan BY, Karevan R, Kalli KR, Kajiyama H, Ji BT, Jensen A, Jakubowska A, Iversen E, Hosono S, Høgdall CK, Hoatlin M, Hillemanns P, Heitz F, Hein R, Harter P, Halle MK, Hall P, Gronwald J, Gore M, Goodman MT, Giles GG, Gentry-Maharaj A, Garcia-Closas M, Flanagan JM, Fasching PA, Ekici AB, Edwards R, Eccles D, Easton DF, Dürst M, du Bois A, Dörk T, Doherty JA, Despierre E, Dansonka-Mieszkowska A, Cybulski C, Cramer DW, Cook LS, Chen X, Charbonneau B, Chang-Claude J, Campbell I, Butzow R, Bunker CH, Brueggmann D, Brown R, Brooks-Wilson A, Brinton LA, Bogdanova N, Block MS, Benjamin E, Beesley J, Beckmann MW, Bandera EV, Baglietto L, Bacot F, Armasu SM, Antonenkova N, Anton-Culver H, Aben KK, Liang D, Wu X, Lu K, Hildebrandt MA, Australian Ovarian Cancer Study Group , Australian Cancer Study , Schildkraut JM, Sellers TA, Huntsman D, Berchuck A, Chenevix-Trench G, Gayther SA, Pharoah PD, Laird PW, Goode EL, Pearce CL, Easton D, Eeles R, Muir K, Giles G, Wiklund F, Gronberg H, Haiman C, Schleutker J, Weischer M, Travis R, Neal D, Pharoah P, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park J, Kaneva R, Batra J, Teixeira MR, Ghoussaini M, Kote-Jarai Z, Al Olama AA, Benlloch S, Bowtell D, Gertig D, Green A, deFazio A, Webb 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, Laurie R, Robbie M, 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, Underhill C, Bell R, Ng LF, Blum R, Ganju V, Hammond I, McCartney A, Stewart C, Leung Y, Buck M, Zeps N, Whiteman DC, Webb PM, Phil D, Hayward NK, Parsons PG, Purdie DM, Smithers B, Gotley D, Clouston A, Brown I, Moore S, Harrap K, Sadkowski T, O'Brien S, Minehan E, Roffe D, O'Keefe S, Lipshut S, Connor G, Berry H, Walker F, Barnes T, Thomas J, Terry L, Connard M, Bowes L, Malt M, White J, Mosse C, Tait N, Bambach C, Biankan A, Brancatisano R, Coleman M, Cox M, Deane S, Falk GL, Gallagher J, Hollands M, Hugh T, Hunt D, Jorgensen J, Martin C, Richardson M, Smith G, Smith R, Storey D, Avramovic J, Croese J, D'Arcy J, Fairley S, Hansen J, Masson J, Nathanson L, O'Loughlin B, Rutherford L, Turner R, Windsor M, Bessell J, Devitt P, Jamieson G, Watson D, Blamey S, Boussioutas A, Cade R, Crosthwaite G, Faragher I, Gribbin J, Hebbard G, Kiroff G, Mann B, Millar B, O'Brien P, Thomas R, Wood S: (2013) Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat Commun. 2013;4(): 1628
  • Ruebner M, Strissel PL, Ekici AB, Stiegler E, Dammer U, Goecke TW, Faschingbauer F, Fahlbusch FB, Beckmann MW, Strick R: (2013) Reduced syncytin-1 expression levels in placental syndromes correlates with epigenetic hypermethylation of the ERVW-1 promoter region. PLoS ONE. 2013;8(2): e56145
  • Ekici AB, Strissel PL, Oppelt PG, Renner SP, Brucker S, Beckmann MW, Strick R: (2013) HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina. Gene. 2013;518(2): 267-72
  • Zaridoust A, Rabbani A, Sayarifard F, Thiel CT, Rezaei N: (2013) Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome. Iran J Pediatr. 2013;23(3): 363-5
  • Johnatty SE, Beesley J, Gao B, Chen X, Lu Y, Law MH, Henderson MJ, Russell AJ, Hedditch EL, Emmanuel C, Fereday S, Webb PM, Australian Ovarian Cancer Study Group , Goode EL, Vierkant RA, Fridley BL, Cunningham JM, Fasching PA, Beckmann MW, Ekici AB, Hogdall E, Kjaer SK, Jensen A, Hogdall C, Brown R, Paul J, Lambrechts S, Despierre E, Vergote I, Lester J, Karlan BY, Heitz F, du Bois A, Harter P, Schwaab I, Bean Y, Pejovic T, Levine DA, Goodman MT, Camey ME, Thompson PJ, Lurie G, Shildkraut J, Berchuck A, Terry KL, Cramer DW, Norris MD, Haber M, Macgregor S, deFazio A, Chenevix-Trench G: (2013) ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas. Gynecol Oncol. 2013;131(1): 8-14
  • Michailidou K, Hall P, González-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N, Breast and Ovarian Cancer Susceptibility Collaboration , Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) , van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Hopper JL, Southey MC, Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Zamora MP, Pérez JI, Pita G, Alonso MR, Cox A, Brock IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA, Glendon G, Mulligan AM, kConFab Investigators , Australian Ovarian Cancer Study Group , Lindblom A, Margolin S, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Muller H, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Bruning T, GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network , Radice P, Peterlongo P, Manoukian S, Bonanni B, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dörk T, Kristensen VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J, Easton DF: (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45(4): 353-61, 361e1-2
  • Buchert R, Uebe S, Radwan F, Tawamie H, Issa S, Shimazaki H, Henneke M, Ekici AB, Reis A, Abou Jamra R: (2013) Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. Eur J Med Genet. 2013;56(11): 599-602
  • Pharoah PD, Tsai YY, Ramus SJ, Phelan CM, Goode EL, Lawrenson K, Buckley M, Fridley BL, Tyrer JP, Shen H, Weber R, Karevan R, Larson MC, Song H, Tessier DC, Bacot F, Vincent D, Cunningham JM, Dennis J, Dicks E, Australian Cancer Study , Australian Ovarian Cancer Study Group , Aben KK, Anton-Culver H, Antonenkova N, Armasu SM, Baglietto L, Bandera EV, Beckmann MW, Birrer MJ, Bloom G, Bogdanova N, Brenton JD, Brinton LA, Brooks-Wilson A, Brown R, Butzow R, Campbell I, Carney ME, Carvalho RS, Chang-Claude J, Chen YA, Chen Z, Chow WH, Cicek MS, Coetzee G, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher D, Flanagan J, Gao YT, Garcia-Closas M, Gentry-Maharaj A, Giles G, Gjyshi A, Gore M, Gronwald J, Guo Q, Halle MK, Harter P, Hein A, Heitz F, Hillemanns P, Hoatlin M, Høgdall CK, Hosono S, Jakubowska A, Jensen A, Kalli KR, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Konecny GE, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee N, Lee J, Leminen A, Lim BK, Lissowska J, Lubi?ski J, Lundvall L, Lurie G, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod SA, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC, Poole EM, Qu X, Risch HA, Rodríguez-Rodríguez L, Rossing MA, Rudolph A, Runnebaum I, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shen H, Shridhar V, Shu XO, Sieh W, Southey MC, Spellman P, Tajima K, Teo SH, Terry KL, Thompson PJ, Timorek A, Tworoger SS, van Altena AM, Van Den Berg D, Vergote I, Vierkant RA, Vitonis AF, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wik E, Winterhoff B, Woo YL, Wu AH, Yang HP, Zheng W, Ziogas A, Zulkifli F, Goodman MT, Hall P, Easton DF, Pearce CL, Berchuck A, Chenevix-Trench G, Iversen E, Monteiro AN, Gayther SA, Schildkraut JM, Sellers TA: (2013) GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet. 2013;45(4): 362-70, 370e1-2
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