Publikationen 2017

Humangenetik

Direktor:
Prof. Dr. med. André Reis

2017

  • Müller CP, Kalinichenko LS, Tiesel J, Witt M, Stöckl T, Sprenger E, Fuchser J, Beckmann J, Praetner M, Huber SE, Amato D, Mühle C, Büttner C, Ekici AB, Smaga I, Pomierny-Chamiolo L, Pomierny B, Filip M, Eulenburg V, Gulbins E, Lourdusamy A, Reichel M, Kornhuber J: (2017) Paradoxical antidepressant effects of alcohol are related to acid...
    Acta Neuropathol (Berl). 2017;133(3): 463-483
  • Huber SE, Zoicas I, Reichel M, Mühle C, Büttner C, Ekici AB, Eulenburg V, Lenz B, Kornhuber J, Müller CP: (2017) Prenatal androgen receptor activation determines adult alcohol and water...
    Addict Biol. 2017;
  • Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R: (2017) Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive...
    Am J Hum Genet. 2017;100(3): 555-561
  • Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL, Deciphering Developmental Disorders Study , Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y: (2017) Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic...
    Am J Hum Genet. 2017;101(4): 503-515
  • Pasutto F, Flinter F, Rauch A, Reis A: (2017) Novel STRA6 null mutations in the original family described with Matthew-Wood...
    Am J Med Genet A. 2017;
  • Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, Debatin KM, Deubzer H, Dirksen U, Eckert C, Eggert A, Erlacher M, Fleischhack G, Frühwald MC, Gnekow A, Goehring G, Graf N, Hanenberg H, Hauer J, Hero B, Hettmer S, von Hoff K, Horstmann M, Hoyer J, Illig T, Kaatsch P, Kappler R, Kerl K, Klingebiel T, Kontny U, Kordes U, Körholz D, Koscielniak E, Kramm CM, Kuhlen M, Kulozik AE, Lamottke B, Leuschner I, Lohmann DR, Meinhardt A, Metzler M, Meyer LH, Moser O, Nathrath M, Niemeyer CM, Nustede R, Pajtler KW, Paret C, Rasche M, Reinhardt D, Rieß O, Russo A, Rutkowski S, Schlegelberger B, Schneider D, Schneppenheim R, Schrappe M, Schroeder C, von Schweinitz D, Simon T, Sparber-Sauer M, Spix C, Stanulla M, Steinemann D, Strahm B, Temming P, Thomay K, von Bueren AO, Vorwerk P, Witt O, Wlodarski M, Wössmann W, Zenker M, Zimmermann S, Pfister SM, Kratz CP: (2017) Childhood cancer predisposition syndromes-A concise review and recommendations...
    Am J Med Genet A. 2017;173(4): 1017-1037
  • Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U: (2017) DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey...
    Am J Med Genet A. 2017;173(5): 1369-1373
  • Reuter MS, Krumbiegel M, Schlüter G, Ekici AB, Reis A, Zweier C: (2017) Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype...
    Am J Med Genet A. 2017;173(8): 2231-2234
  • Meng W, Zhu Z, Jiang X, Too CL, Uebe S, Jagodic M, Kockum I, Murad S, Ferrucci L, Alfredsson L, Zou H, Klareskog L, Feinberg AP, Ekström TJ, Padyukov L, Liu Y: (2017) DNA methylation mediates genotype and smoking interaction in the development...
    Arthritis Res Ther. 2017;19(1): 71
  • Urschel K, Schacher NM, Pasutto F, Achenbach S, Raaz-Schrauder D, Schrauder MG, Stumpfe F, Dietel B: (2017) IMPACT OF SINGLE NUCLEOTIDE POLYMORPHISMS RS1870377 A > T AND RS2305948 C > T ON...
    Atherosclerosis. 2017;263: E32-E32
  • Klinger P, Lukassen S, Ferrazzi F, Ekici AB, Hotfiel T, Swoboda B, Aigner T, Gelse K: (2017) PEDF Is Associated with the Termination of Chondrocyte Phenotype and...
    Biomed Res Int. 2017;2017: 7183516
  • Uebe S, Ehrlicher M, Ekici AB, Behrens F, Böhm B, Homuth G, Schurmann C, Völker U, Jünger M, Nauck M, Völzke H, Traupe H, Krawczak M, Burkhardt H, Reis A, Hüffmeier U: (2017) Genome-wide association and targeted analysis of copy number variants with...
    BMC Med Genet. 2017;18(1): 92
  • Grünblatt E, Oneda B, Ekici AB, Ball J, Geissler J, Uebe S, Romanos M, Rauch A, Walitza S: (2017) High resolution chromosomal microarray analysis in paediatric...
    BMC Med Genomics. 2017;10(1): 68
  • Brackmann F, Coras R, Rössler K, Kraus C, Rompel O, Trollmann R: (2017) Histopathological proof of the pathogenicity of a rare GFAP mutation in a...
    Brain Dev. 2017;
  • Schrauder MG, Brunel-Geuder L, Häberle L, Wunderle M, Hoyer J, Reis A, Schulz-Wendtland R, Beckmann MW, Lux MP: (2017) Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast...
    Breast. 2017;32: 186-191
  • Pridöhl F, Weißkopf M, Koniszewski N, Sulzmaier A, Uebe S, Ekici AB, Schoppmeier M: (2017) Transcriptome sequencing reveals maelstrom as a novel target gene of the...
    Development. 2017;144(7): 1339-1349
  • Kasper BS, Dörfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C: (2017) Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann...
    Epilepsy Behav. 2017;69: 104-109
  • Popp B, Ekici AB, Thiel CT, Hoyer J, Wiesener A, Kraus C, Reis A, Zweier C: (2017) Exome Pool-Seq in neurodevelopmental disorders.
    Eur J Hum Genet. 2017;
  • Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D: (2017) Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a...
    Eur J Hum Genet. 2017;25(2): 183-191
  • Argente-Escrig H, Gomez NM, Gomez L, Turk M, Thiel CT, Schroder R, Vilchez JJ: (2017) Ephedrine and 3,4 diaminopyridine responsive myasthenic syndrome in...
    Eur J Neurol. 2017;24 1: 205-205
  • Bergauer A, Sopel N, Kroß B, Vuorinen T, Xepapadaki P, Weiss ST, Blau A, Sharma H, Kraus C, Springel R, Rauh M, Mittler S, Graser A, Zimmermann T, Melichar VO, Kiefer A, Kowalski ML, Sobanska A, Jartti T, Lukkarinen H, Papadopoulos NG, Finotto S: (2017) IFN-?/IFN-? responses to respiratory viruses in paediatric asthma.
    Eur Respir J. 2017;49(2)
  • Chiriac MT, Buchen B, Wandersee A, Hundorfean G, Günther C, Bourjau Y, Doyle SE, Frey B, Ekici AB, Büttner C, Weigmann B, Atreya R, Wirtz S, Becker C, Siebler J, Neurath MF: (2017) Activation of Epithelial Signal Transducer and Activator of Transcription 1 by...
    Gastroenterology. 2017;153(1): 123-138.e8
  • Hein A, Rack B, Li L, Ekici AB, Reis A, Lux MP, Cunningham JM, Rübner M, Fridley BL, Schneeweiss A, Tesch H, Lichtenegger W, Fehm T, Heinrich G, Rezai M, Beckmann MW, Janni W, Weinshilboum RM, Wang L, Fasching PA, Häberle L: (2017) Genetic Breast Cancer Susceptibility Variants and Prognosis in the Prospectively...
    Geburtsh Frauenheilk. 2017;77(6): 651-659
  • Häberle L, Hein A, Rübner M, Schneider M, Ekici AB, Gass P, Hartmann A, Schulz-Wendtland R, Beckmann MW, Lo WY, Schroth W, Brauch H, Fasching PA, Wunderle M: (2017) Predicting Triple-Negative Breast Cancer Subtype Using Multiple Single...
    Geburtsh Frauenheilk. 2017;77(6): 667-678
  • Burghaus S, Fasching PA, Häberle L, Rübner M, Büchner K, Blum S, Engel A, Ekici AB, Hartmann A, Hein A, Beckmann MW, Renner SP: (2017) Genetic risk factors for ovarian cancer and their role for endometriosis risk.
    Gynecol Oncol. 2017;145(1): 142-147
  • Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, Burden AD, Callis Duffin K, Chandran V, Curtis CJ, Das S, Ellinghaus D, Ellinghaus E, Enerback C, Esko T, Gladman DD, Griffiths CEM, Gudjonsson JE, Hoffman P, Homuth G, Hüffmeier U, Krueger GG, Laudes M, Lee SH, Lieb W, Lim HW, Löhr S, Mrowietz U, Müller-Nurayid M, Nöthen M, Peters A, Rahman P, Reis A, Reynolds NJ, Rodriguez E, Schmidt CO, Spain SL, Strauch K, Tejasvi T, Voorhees JJ, Warren RB, Weichenthal M, Weidinger S, Zawistowski M, Nair RP, Capon F, Smith CH, Trembath RC, Abecasis GR, Elder JT, Franke A, Simpson MA, Barker JN: (2017) Exome-wide association study reveals novel psoriasis susceptibility locus at...
    Hum Mol Genet. 2017;26(21): 4301-4313
  • Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A: (2017) Gene panel sequencing in familial breast/ovarian cancer patients identifies...
    Int J Cancer. 2017;140(1): 95-102
  • Berner D, Zenkel M, Pasutto F, Hoja U, Liravi P, Gusek-Schneider GC, Kruse FE, Schödel J, Reis A, Schlötzer-Schrehardt U: (2017) Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing...
    Invest Ophthalmol Vis Sci. 2017;58(13): 5930-5940
  • Allison R, Edgar JR, Pearson G, Rizo T, Newton T, Günther S, Berner F, Hague J, Connell JW, Winkler J, Lippincott-Schwartz J, Beetz C, Winner B, Reid E: (2017) Defects in ER-endosome contacts impact lysosome function in hereditary spastic...
    J Cell Biol. 2017;216(5): 1337-1355
  • Thomson BR, Souma T, Tompson SW, Onay T, Kizhatil K, Siggs OM, Feng L, Whisenhunt KN, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Tanna CE, Hewitt AW, Mackey DA, Bradfield YS, Souzeau E, Javadiyan S, Wiggs JL, Pasutto F, Liu X, John SW, Craig JE, Jin J, Young TL, Quaggin SE: (2017) Angiopoietin-1 is required for Schlemm's canal development in mice and humans.
    J Clin Invest. 2017;
  • Ubieta K, Garcia M, Grötsch B, Uebe S, Weber GF, Stein M, Ekici A, Schett G, Mielenz D, Bozec A: (2017) Fra-2 regulates B cell development by enhancing IRF4 and Foxo1 transcription.
    J Exp Med. 2017;214(7): 2059-2071
  • Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P, DDD Study , Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C: (2017) FOXP2 variants in 14 individuals with developmental speech and language...
    J Med Genet. 2017;54(1): 64-72
  • Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L: (2017) STAG1 mutations cause a novel cohesinopathy characterised by unspecific...
    J Med Genet. 2017;54(7): 479-488
  • Telomeres Mendelian Randomization Collaboration , Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Severi G, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis GR, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Munz M, Dommisch H, Schaefer AS, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G: (2017) Association Between Telomere Length and Risk of Cancer and Non-Neoplastic...
    JAMA Oncol. 2017;3(5): 636-651
  • Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R: (2017) Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152...
    JAMA Psychiatry. 2017;74(3): 293-299
  • Lobo-Prada T, Sticht H, Bogantes-Ledezma S, Ekici A, Uebe S, Reis A, Leal A: (2017) A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual...
    JIMD Rep. 2017;36: 59-66
  • Cursiefen C, Bock F, Clahsen T, Regenfuss B, Reis A, Steven P, Heindl LM, Bosch JJ, Hos D, Eming S, Grajewski R, Heiligenhaus A, Fauser S, Austin J, Langmann T: (2017) [New Therapeutic Approaches in Inflammatory Diseases of the Eye - Targeting...
    Klin Monatsbl Augenheilkd. 2017;234(5): 679-685
  • Mielenz D, Reichel M, Jia T, Quinlan EB, Stöckl T, Mettang M, Zilske D, Kirmizi-Alsan E, Schönberger P, Praetner M, Huber SE, Amato D, Schwarz M, Purohit P, Brachs S, Spranger J, Hess A, Büttner C, Ekici AB, Perez-Branguli F, Winner B, Rauschenberger V, Banaschewski T, Bokde AL, Büchel C, Conrod PJ, Desrivières S, Flor H, Frouin V, Gallinat J, Garavan H, Gowland P, Heinz A, Martinot JL, Lemaitre H, Nees F, Paus T, Smolka MN, IMAGEN Consortium , Schambony A, Bäuerle T, Eulenburg V, Alzheimer C, Lourdusamy A, Schumann G, Müller CP: (2017) EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low...
    Mol Psychiatry. 2017;
  • Tsoi LC, Stuart PE, Tian C, Gudjonsson JE, Das S, Zawistowski M, Ellinghaus E, Barker JN, Chandran V, Dand N, Duffin KC, Enerbäck C, Esko T, Franke A, Gladman DD, Hoffmann P, Kingo K, Kõks S, Krueger GG, Lim HW, Metspalu A, Mrowietz U, Mucha S, Rahman P, Reis A, Tejasvi T, Trembath R, Voorhees JJ, Weidinger S, Weichenthal M, Wen X, Eriksson N, Kang HM, Hinds DA, Nair RP, Abecasis GR, Elder JT: (2017) Large scale meta-analysis characterizes genetic architecture for common...
    Nat Commun. 2017;8: 15382
  • Pasutto F, Zenkel M, Hoja U, Berner D, Uebe S, Ferrazzi F, Schödel J, Liravi P, Ozaki M, Paoli D, Frezzotti P, Mizoguchi T, Nakano S, Kubota T, Manabe S, Salvi E, Manunta P, Cusi D, Gieger C, Wichmann HE, Aung T, Khor CC, Kruse FE, Reis A, Schlötzer-Schrehardt U: (2017) Pseudoexfoliation syndrome-associated genetic variants affect transcription...
    Nat Commun. 2017;8: 15466
  • Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, Bildl W, Saadi A, Bole-Feysot C, Nitschke P, Reis A, Sticht H, Al-Sanna'a N, Rolfs A, Kulik A, Schulte U, Colleaux L, Abou Jamra R, Fakler B: (2017) AMPA-receptor specific biogenesis complexes control synaptic transmission and...
    Nat Commun. 2017;8: 15910
  • Chintalapudi SR, Maria D, Di Wang X, Bailey JNC, NEIGHBORHOOD consortium , International Glaucoma Genetics consortium , Hysi PG, Wiggs JL, Williams RW, Jablonski MM, Allingham R, Brilliant M, Budenz D, Fingert J, Gaasterland D, Gaasterland T, Haines JL, Hark L, Hauser M, Igo R, Hee Kang J, Kraft P, Lee R, Lichter P, Liu Y, Moroi S, Pasquale LR, Pericak-Vance M, Realini A, Rhee D, Richards JR, Ritch R, Schuman J, Scott WK, Singh K, Sit A, Vollrath D, Wollstein G, Zack D, Aung T, Bonnemaijer P, Cheng CY, Craig J, van Duijn C, Gharahkhani P, Iglesias Gonzalez A, Hammond CJ, Hewitt A, Hoehn R, Jonansson F, Khawaja A, Chuen Khor C, Klaver CCW, Lotery A, Mackey D, MacGregor S, Pang C, Pasutto F, Stefansson K, Thorleifsson G, Thorsteinsdottir U, Vitart V, Vithana E, Young T, Zeller T: (2017) Systems genetics identifies a role for Cacna2d1 regulation in elevated...
    Nat Commun. 2017;8(1): 1755
  • Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, Hui S, Lemaçon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Aalfs CM, ABCTB Investigators , Adams M, Adlard J, Agata S, Ahmed S, Ahsan H, Aittomäki K, Al-Ejeh F, Allen J, Ambrosone CB, Amos CI, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Auber B, Auer PL, Ausems MGEM, Azzollini J, Bacot F, Balmaña J, Barile M, Barjhoux L, Barkardottir RB, Barrdahl M, Barnes D, Barrowdale D, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Bernstein L, Bignon YJ, Blazer KR, Blok MJ, Blomqvist C, Blot W, Bobolis K, Boeckx B, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Børresen-Dale AL, Bozsik A, Bradbury AR, Brand JS, Brauch H, Brenner H, Bressac-de Paillerets B, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Brunet J, Brüning T, Burwinkel B, Buys SS, Byun J, Cai Q, Caldés T, Caligo MA, Campbell I, Canzian F, Caron O, Carracedo A, Carter BD, Castelao JE, Castera L, Caux-Moncoutier V, Chan SB, Chang-Claude J, Chanock SJ, Chen X, Cheng TD, Chiquette J, Christiansen H, Claes KBM, Clarke CL, Conner T, Conroy DM, Cook J, Cordina-Duverger E, Cornelissen S, Coupier I, Cox A, Cox DG, Cross SS, Cuk K, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, Davidson R, De Leeneer K, Devilee P, Dicks E, Diez O, Ding YC, Ditsch N, Doheny KF, Domchek SM, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dubois S, Dugué PA, Dumont M, Dunning AM, Durcan L, Dwek M, Dworniczak B, Eccles D, Eeles R, Ehrencrona H, Eilber U, Ejlertsen B, Ekici AB, Eliassen AH, EMBRACE , Engel C, Eriksson M, Fachal L, Faivre L, Fasching PA, Faust U, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gaddam P, Gammon MD, Ganz PA, Gapstur SM, Garber J, Garcia-Barberan V, García-Sáenz JA, Gaudet MM, Gauthier-Villars M, Gehrig A, GEMO Study Collaborators , Georgoulias V, Gerdes AM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goodfellow P, Greene MH, Alnæs GIG, Grip M, Gronwald J, Grundy A, Gschwantler-Kaulich D, Guénel P, Guo Q, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hallberg E, Hamann U, Hamel N, Hankinson S, Hansen TVO, Harrington P, Hart SN, Hartikainen JM, Healey CS, HEBON , Hein A, Helbig S, Henderson A, Heyworth J, Hicks B, Hillemanns P, Hodgson S, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover B, Hopper JL, Hu C, Huang G, Hulick PJ, Humphreys K, Hunter DJ, Imyanitov EN, Isaacs C, Iwasaki M, Izatt L, Jakubowska A, James P, Janavicius R, Janni W, Jensen UB, John EM, Johnson N, Jones K, Jones M, Jukkola-Vuorinen A, Kaaks R, Kabisch M, Kaczmarek K, Kang D, Kast K, kConFab/AOCS Investigators , Keeman R, Kerin MJ, Kets CM, Keupers M, Khan S, Khusnutdinova E, Kiiski JI, Kim SW, Knight JA, Konstantopoulou I, Kosma VM, Kristensen VN, Kruse TA, Kwong A, Lænkholm AV, Laitman Y, Lalloo F, Lambrechts D, Landsman K, Lasset C, Lazaro C, Le Marchand L, Lecarpentier J, Lee A, Lee E, Lee JW, Lee MH, Lejbkowicz F, Lesueur F, Li J, Lilyquist J, Lincoln A, Lindblom A, Lissowska J, Lo WY, Loibl S, Long J, Loud JT, Lubinski J, Luccarini C, Lush M, MacInnis RJ, Maishman T, Makalic E, Kostovska IM, Malone KE, Manoukian S, Manson JE, Margolin S, Martens JWM, Martinez ME, Matsuo K, Mavroudis D, Mazoyer S, McLean C, Meijers-Heijboer H, Menéndez P, Meyer J, Miao H, Miller A, Miller N, Mitchell G, Montagna M, Muir K, Mulligan AM, Mulot C, Nadesan S, Nathanson KL, NBSC Collaborators , Neuhausen SL, Nevanlinna H, Nevelsteen I, Niederacher D, Nielsen SF, Nordestgaard BG, Norman A, Nussbaum RL, Olah E, Olopade OI, Olson JE, Olswold C, Ong KR, Oosterwijk JC, Orr N, Osorio A, Pankratz VS, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Lloyd R, Pedersen IS, Peissel B, Peixoto A, Perez JIA, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Pinchev M, Plaseska-Karanfilska D, Poppe B, Porteous ME, Prentice R, Presneau N, Prokofieva D, Pugh E, Pujana MA, Pylkäs K, 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  • Eisenhut F, Heim L, Trump S, Mittler S, Sopel N, Andreev K, Ferrazzi F, Ekici AB, Rieker R, Springel R, Assmann VL, Lechmann M, Koch S, Engelhardt M, Warnecke C, Trufa DI, Sirbu H, Hartmann A, Finotto S: (2017) FAM13A is associated with non-small cell lung cancer (NSCLC) progression and...
    Oncoimmunology. 2017;6(1): e1256526
  • Fasching PA, Haberle L, Rack B, Li L, Hein A, Ekici AB, Reis A, Lux MP, Cunningham JM, Ruebner M, Jenkins G, Fridley B, Schneeweiss A, Tesch H, Lichtenegger W, Fehm T, Heinrich G, Rezai M, Beckmann MW, Janni W, Weinshilboum RM, Wang LW: (2017) Clinical validation of genetic variants associated with in vitro...
    Oncotarget. 2017;8(44): 78133-78143
  • Cascella R, Strafella C, Ragazzo M, Manzo L, Costanza G, Bowes J, Huffmeier U, Potenza S, Sangiuolo F, Reis A, Barton A, Novelli G, Orlandi A, Giardina E: (2017) KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis...
    Oncotarget. 2017;8(56): 95401-95411
  • Nolte E, Wach S, Silva IT, Lukat S, Ekici AB, Munkert J, Müller-Uri F, Kreis W, Oliveira Simões CM, Vera J, Wullich B, Taubert H, Lai X: (2017) A new semisynthetic cardenolide analog 3?-[2-(1-amantadine...
    Oncotarget. 2017;8(7): 11676-11691
  • Heiss RU, Fahlbusch F, Jacobi J, Daniel C, Ekici AB, Cordasic N, Amann K, Hartner A, Hilgers KF: (2017) Blunted transcriptional response to skeletal muscle ischemia in rats with...
    Physiol Genomics. 2017;49(4): 230-237
  • Kraner ME, Link K, Melzer M, Ekici AB, Uebe S, Tarazona P, Feussner I, Hofmann J, Sonnewald U: (2017) Choline transporter-like1 (CHER1) is crucial for plasmodesmata maturation in...
    Plant J. 2017;89(2): 394-406
  • Oppelt PG, Müller A, Stephan L, Dittrich R, Lermann J, Büttner C, Ekici AB, Conzelmann G, Seeger H, Schöller D, Rall K, Beckmann MW, Strissel PL, Brucker SY, Strick R: (2017) Hyperandrogenemia and high prolactin in congenital utero-vaginal aplasia...
    Reproduction. 2017;153(5): 555-563
  • Menges S, Minakaki G, Schaefer PM, Meixner H, Prots I, Schlötzer-Schrehardt U, Friedland K, Winner B, Outeiro TF, Winklhofer KF, von Arnim CA, Xiang W, Winkler J, Klucken J: (2017) Alpha-synuclein prevents the formation of spherical mitochondria and apoptosis...
    Sci Rep. 2017;7: 42942
  • Hauer NN, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dörr HG, Thiel CT: (2017) Genetic screening confirms heterozygous mutations in ACAN as a major cause of...
    Sci Rep. 2017;7(1): 12225
  • Wunnenburger S, Schultheiss UT, Walz G, Hausknecht B, Ekici AB, Kronenberg F, Eckardt KU, Köttgen A, Wuttke M: (2017) Associations between genetic risk variants for kidney diseases and kidney...
    Sci Rep. 2017;7(1): 13944
  • Zebrowski DC, Jensen CH, Becker R, Ferrazzi F, Baun C, Hvidsten S, Sheikh SP, Polizzotti BD, Andersen DC, Engel FB: (2017) Cardiac injury of the newborn mammalian heart accelerates cardiomyocyte terminal...
    Sci Rep. 2017;7(1): 8362
 
 
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