Publikationen 2018

Humangenetik

Direktor:
Prof. Dr. med. André Reis

Publikationen 2018

  • Falk N, Kessler K, Schramm SF, Boldt K, Becirovic E, Michalakis S, Regus-Leidig H, Noegel AA, Ueffing M, Thiel CT, Roepman R, Brandstätter JH, Gießl A: (2018) Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis.
    J Cell Sci. 2018;131(16):
  • Wunderle M, Gass P, Häberle L, Flesch VM, Rauh C, Bani MR, Hack CC, Schrauder MG, Jud SM, Emons J, Erber R, Ekici AB, Hoyer J, Vasileiou G, Kraus C, Reis A, Hartmann A, Lux MP, Beckmann MW, Fasching PA, Hein A: (2018) BRCA mutations and their influence on pathological complete response and...
    Breast Cancer Res Treat. 2018;171(1): 85-94
  • Earp M, Tyrer JP, Winham SJ, Lin HY, Chornokur G, Dennis J, Aben KKH, Anton-Culver H, Antonenkova N, Bandera EV, Bean YT, Beckmann MW, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harter P, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Hogdall CK, Høgdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Jung AY, Karlan BY, Kellar M, Kiemeney LA, Kiong Lim B, Kjaer SK, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lele S, Lester J, Levine DA, Li Z, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LFAG, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Moysich KB, Ness RB, Nevanlinna H, Odunsi K, Olson SH, Orlow I, Orsulic S, Paul J, Pejovic T, Pelttari LM, Permuth JB, Pike MC, Poole EM, Rosen B, Rossing MA, Rothstein JH, Runnebaum IB, Rzepecka IK, Schernhammer E, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Tangen IL, Teo SH, Terry KL, Thompson PJ, Thomsen L, Tworoger SS, Van Altena AM, Vergote I, Vestrheim Thomsen LC, Vierkant RA, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Woo YL, Wu AH, Wu X, Xiang YB, Yang H, Zheng W, Ziogas A, Lee AW, Pearce CL, Berchuck A, Schildkraut JM, Ramus SJ, Monteiro ANA, Narod SA, Sellers TA, Gayther SA, Kelemen LE, Chenevix-Trench G, Risch HA, Pharoah PDP, Goode EL, Phelan CM: (2018) Variants in genes encoding small GTPases and association with epithelial ovarian...
    PLoS ONE. 2018;13(7):
  • Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gérard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT, Deciphering Developmental Disorders Study , Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A: (2018) Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris...
    Am J Hum Genet. 2018;102(3): 468-479
  • Li Y, Sekula P, Wuttke M, Wahrheit J, Hausknecht B, Schultheiss UT, Gronwald W, Schlosser P, Tucci S, Ekici AB, Spiekerkoetter U, Kronenberg F, Eckardt KU, Oefner PJ, Köttgen A, GCKD Investigators: (2018) Genome-Wide Association Studies of Metabolites in Patients with CKD Identify...
    J Am Soc Nephrol. 2018;29(5): 1513-1524
  • Hetzner K, Garcia-Cuellar MP, Büttner C, Slany RK: (2018) The interaction of ENL with PAF1 mitigates polycomb silencing and facilitates...
    Blood. 2018;131(6): 662-673
  • Prots I, Grosch J, Brazdis RM, Simmnacher K, Veber V, Havlicek S, Hannappel C, Krach F, Krumbiegel M, Schütz O, Reis A, Wrasidlo W, Galasko DR, Groemer TW, Masliah E, Schlötzer-Schrehardt U, Xiang W, Winkler J, Winner B: (2018) α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based...
    Proc Natl Acad Sci U S A. 2018;115(30): 7813-7818
  • O'Mara TA, Glubb DM, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Bolla MK, Brauch H, Brenner H, Brinton L, Buchanan DD, Burwinkel B, Chang-Claude J, Chanock SJ, Chen C, Chen MM, Cheng THT, Clarke CL, Clendenning M, Cook LS, Couch FJ, Cox A, Crous-Bous M, Czene K, Day F, Dennis J, Depreeuw J, Doherty JA, Dörk T, Dowdy SC, Dürst M, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, Fritschi L, Fung J, García-Closas M, Gaudet MM, Giles GG, Goode EL, Gorman M, Haiman CA, Hall P, Hankison SE, Healey CS, Hein A, Hillemanns P, Hodgson S, Hoivik EA, Holliday EG, Hopper JL, Hunter DJ, Jones A, Krakstad C, Kristensen VN, Lambrechts D, Marchand LL, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Meindl A, Michailidou K, Milne RL, Mints M, Montgomery GW, Nassir R, Olsson H, Orlow I, Otton G, Palles C, Perry JRB, Peto J, Pooler L, Prescott J, Proietto T, Rebbeck TR, Risch HA, Rogers PAW, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu XO, Southey MC, Swerdlow AJ, Tham E, Trovik J, Turman C, Tyrer JP, Vachon C, VanDen Berg D, Vanderstichele A, Wang Z, Webb PM, Wentzensen N, Werner HMJ, Winham SJ, Wolk A, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Pharoah PDP, Dunning AM, Kraft P, De Vivo I, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ: (2018) Identification of nine new susceptibility loci for endometrial cancer.
    Nat Commun. 2018;9(1):
  • Painter JN, O'Mara TA, Morris AP, Cheng THT, Gorman M, Martin L, Hodson S, Jones A, Martin NG, Gordon S, Henders AK, Attia J, McEvoy M, Holliday EG, Scott RJ, Webb PM, Fasching PA, Beckmann MW, Ekici AB, Hein A, Rübner M, Hall P, Czene K, Dörk T, Dürst M, Hillemanns P, Runnebaum I, Lambrechts D, Amant F, Annibali D, Depreeuw J, Vanderstichele A, Goode EL, Cunningham JM, Dowdy SC, Winham SJ, Trovik J, Hoivik E, Werner HMJ, Krakstad C, Ashton K, Otton G, Proietto T, Tham E, Mints M, Ahmed S, Healey CS, Shah M, Pharoah PDP, Dunning AM, Dennis J, 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, Zondervan KT, Nyholt DR, MacGregor S, Montgomery GW, Tomlinson I, Easton DF, Thompson DJ, Spurdle AB: (2018) Genetic overlap between endometriosis and endometrial cancer: evidence from...
    Cancer Med. 2018;7(5): 1978-1987
  • Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Deciphering Developmental Disorders Study , Fliedner A, Gregor A, Sticht H, Zweier C: (2018) Missense Variants in RHOBTB2 Cause a Developmental and Epileptic...
    Am J Hum Genet. 2018;102(1): 44-57
  • Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C, Members of the Undiagnosed Diseases Network null, Zenker M, Lee B, Biesecker LG: (2018) Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
    Genet Med. 2018;():
  • Scheller U, Pfisterer K, Uebe S, Ekici AB, Reis A, Jamra R, Ferrazzi F: (2018) Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA...
    BMC Med Genomics. 2018;11(1):
  • Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, University of Washington Center for Mendelian Genomics , DDD study , Reis A, Sticht H, Zweier C: (2018) De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable...
    Am J Hum Genet. 2018;103(2): 305-316
  • Buettner-Herold M, Chuva T, Minuth K, Pfister F, Daniel C, Klewer M, Buttner A, Ferrazzi F, Bertz S, Amann K: (2018) Light chain proximal tubulopathy in the spectrumof B-cell dyscrasia induced...
    Virchows Arch. 2018;473(): S15-S15
  • Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A: (2018) Clinical and experimental evidence suggest a link between KIF7 and...
    Eur J Hum Genet. 2018;26(2): 197-209
  • Poehls UG, Hack CC, Ekici AB, Beckmann MW, Fasching PA, Ruebner M, Huebner H: (2018) Saliva samples as a source of DNA for high throughput genotyping: an...
    Eur J Med Res. 2018;23(1):
  • Ghoussaini M, Edwards SL, Michailidou K, Nord S, Cowper-Sal Lari R, Desai K, Kar S, Hillman KM, Kaufmann S, Glubb DM, Beesley J, Dennis J, Bolla MK, Wang Q, Dicks E, Guo Q, Schmidt MK, Shah M, Luben R, Brown J, Czene K, Darabi H, Eriksson M, Klevebring D, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Lambrechts D, Thienpont B, Neven P, Wildiers H, Broeks A, Van't Veer LJ, Rutgers EJT, Couch FJ, Olson JE, Hallberg E, Vachon C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Peto J, dos-Santos-Silva I, Gibson L, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Hall P, Li J, Liu J, Humphreys K, Kang D, Choi JY, Park SK, Noh DY, Matsuo K, Ito H, Iwata H, Yatabe Y, Guénel P, Truong T, Menegaux F, Sanchez M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Benitez J, Pilar Zamora M, Perez JIA, Menéndez P, Shu XO, Lu W, Gao YT, Cai Q, Cox A, Cross SS, Reed MWR, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Lindblom A, Margolin S, Teo SH, Yip CH, Lee DSC, Wong TY, Hooning MJ, Martens JWM, Collée JM, van Deurzen CHM, Hopper JL, Southey MC, Tsimiklis H, Kapuscinski MK, Shen CY, Wu PE, Yu JC, Chen ST, Alnæs GG, Borresen-Dale AL, Giles GG, Milne RL, McLean C, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Hartman M, Miao H, Buhari SABS, Teo YY, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Simard J, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Brauch H, Brüning T, Koto YD, Radice P, Peterlongo P, Bonanni B, Volorio S, Dörk T, Bogdanova NV, Helbig S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Devilee P, Tollenaar RAEM, Seynaeve C, van Asperen CJ, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Hamann U, Torres D, Zheng W, Long J, Anton-Culver H, Neuhausen SL, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, González-Neira A, Pita G, Rosario Alonso M, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, de Santiago I, Carroll J, Caldas C, Brown MA, Lupien M, Kristensen VN, Pharoah PDP, Chenevix-Trench G, French JD, Easton DF, Dunning AM: (2018) Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is...
    Nat Commun. 2018;9():
  • Wunderle M, Olmes G, Nabieva N, Häberle L, Jud SM, Hein A, Rauh C, Hack CC, Erber R, Ekici AB, Hoyer J, Vasileiou G, Kraus C, Reis A, Hartmann A, Schulz-Wendtland R, Lux MP, Beckmann MW, Fasching PA: (2018) Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale...
    Geburtsh Frauenheilk. 2018;78(5): 481-492
  • Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, Staubach S, Salido E, Nuernberg P, Reinhardt R, Reis A, Rump P, Hanisch FG, Wolf MTF, Wiesener M, Huettel B, Beck BB: (2018) Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of...
    Sci Rep. 2018;8(1):
  • Jung M, Häberle BM, Tschaikowsky T, Wittmann MT, Balta EA, Stadler VC, Zweier C, Dörfler A, Gloeckner CJ, Lie DC: (2018) Analysis of the expression pattern of the schizophrenia-risk and intellectual...
    Mol Autism. 2018;9():
  • Wilsmann-Theis D, Schnell LM, Ralser-Isselstein V, Bieber T, Schön MP, Hüffmeier U, Mössner R: (2018) Successful treatment with interleukin-17A antagonists of generalized pustular...
    J Dermatol. 2018;45(7): 850-854
  • Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT: (2018) Clinical relevance of systematic phenotyping and exome sequencing in patients...
    Genet Med. 2018;20(6): 630-638
  • Schwab A, Siddiqui A, Vazakidou ME, Napoli F, Böttcher M, Menchicchi B, Raza U, Saatci Ö, Krebs AM, Ferrazzi F, Rapa I, Dettmer-Wilde K, Waldner MJ, Ekici AB, Rasheed SAK, Mougiakakos D, Oefner PJ, ?ahin Ö, Volante M, Greten FR, Brabletz T, Ceppi P: (2018) Polyol Pathway Links Glucose Metabolism to the Aggressiveness of Cancer Cells.
    Cancer Res. 2018;78(7): 1604-1618
  • Zhong J, Scholz T, Yau ACY, Guerard S, Hüffmeier U, Burkhardt H, Holmdahl R: (2018) Mannan-induced Nos2 in macrophages enhances IL-17-driven psoriatic arthritis...
    Sci Adv. 2018;4(5):
  • Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel CT, Reis A, Zweier C: (2018) Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.
    Eur J Med Genet. 2018;61(7): 363-368
  • Hebebrand J, Peters T, Schijven D, Hebebrand M, Grasemann C, Winkler TW, Heid IM, Antel J, Föcker M, Tegeler L, Brauner L, Adan RAH, Luykx JJ, Correll CU, König IR, Hinney A, Libuda L: (2018) The role of genetic variation of human metabolism for BMI, mental traits and...
    Mol Metab. 2018;12(): 1-11
  • Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, Sticht H, Hüffmeier U: (2018) Evidence for genetic overlap between adult onset Still's disease and...
    Rheumatol Int. 2018;38(1): 111-120
  • Lukassen S, Bosch E, Ekici AB, Winterpacht A: (2018) Characterization of germ cell differentiation in the male mouse through...
    Sci Rep. 2018;8(1):
  • Rath T, Billmeier U, Ferrazzi F, Vieth M, Ekici A, Neurath MF, Atreya R: (2018) Effects of Anti-Integrin Treatment With Vedolizumab on Immune Pathways and...
    Front Immunol. 2018;9():
  • Jing J, Ekici AB, Sitter T, Eckardt KU, Schaeffner E, Li Y, Kronenberg F, Köttgen A, Schultheiss UT: (2018) Genetics of serum urate concentrations and gout in a high-risk population...
    Sci Rep. 2018;8(1):
  • 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, Buttner 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: (2018) EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low...
    Mol Psychiatry. 2018;23(5): 1303-1319
  • Montalbano A, Juergensen L, Fukami M, Thiel CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA: (2018) Functional missense and splicing variants in the retinoic acid catabolizing...
    Eur J Hum Genet. 2018;26(8): 1113-1120
  • Agaimy A, Amin MB, Gill AJ, Popp B, Reis A, Berney DM, Magi-Galluzzi C, Sibony M, Smith SC, Suster S, Trpkov K, Hes O, Hartmann A: (2018) SWI/SNF protein expression status in fumarate hydratase-deficient renal cell...
    Hum Pathol. 2018;77(): 139-146
  • Houtman M, Shchetynsky K, Chemin K, Hensvold AH, Ramsköld D, Tandre K, Eloranta ML, Rönnblom L, Uebe S, Catrina AI, Malmström V, Padyukov L: (2018) T cells are influenced by a long non-coding RNA in the autoimmune associated...
    J Autoimmun. 2018;90(): 28-38
 
 
 
 
 
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