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© Visualisierung: Fritsch und Tschaidse Architekten, München

Publikationen 2021

Publikations 2021

  • Föhrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, Schaper J, Surowy H, Zenker M, Zweier C, Wieczorek D, Redler S: (2021) QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Clin Genet. 2021;99(1): 199-207
  • Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A: (2021) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genet Med. 2021;23(3): 543-554
  • Kho PF, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Brinton L, Buchanan DD, Chanock SJ, Chen C, Chen MM, Cheng THT, Cook LS, Crous-Bous M, Czene K, De Vivo I, Dennis J, Dörk T, Dowdy SC, Dunning AM, Dürst M, Easton DF, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, García-Closas M, Gaudet MM, Giles GG, Goode EL, Gorman M, Haiman CA, Hall P, Hankinson SE, Hein A, Hillemanns P, Hodgson S, Hoivik EA, Holliday EG, Hunter DJ, Jones A, Kraft P, Krakstad C, Lambrechts D, Le Marchand L, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Milne RL, Mints M, Nassir R, Otton G, Palles C, Pooler L, Proietto T, Rebbeck TR, Renner SP, Risch HA, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu XO, Southey MC, Tham E, Tomlinson I, Trovik J, Turman C, Tyrer JP, Van Den Berg D, Wang Z, Wentzensen N, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Webb PM, Thompson DJ, Spurdle AB, Glubb DM, O'Mara TA: (2021) Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer. Int J Cancer. 2021;148(2): 307-319
  • Pretscher J, Ruebner M, Ekici AB, Rödl M, Huebner H, Schwitulla J, Titzmann A, Hartwig C, Beckmann MW, Fasching PA, Schneider MO, Schwenke E: (2021) Genetic variations in estrogen and progesterone pathway genes in preeclampsia patients and controls in Bavaria. Arch Gynecol Obstet. 2021;303(4): 897-904
  • Schneider MO, Hübner T, Pretscher J, Goecke TW, Schwitulla J, Häberle L, Kornhuber J, Ekici AB, Beckmann MW, Fasching PA, Schwenke E: (2021) Genetic variants in the glucocorticoid pathway genes and birth weight. Arch Gynecol Obstet. 2021;303(2): 427-434
  • Argente-Escrig H, Schultheis D, Kamm L, Schowalter M, Thiel C, Türk M, Clemen CS, Muelas N, Castañón MJ, Wiche G, Herrmann H, Vilchez JJ, Schröder R: (2021) Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome. Neuropathol Appl Neurobiol. 2021;47(2): 352-356
  • Polla DL, Bhoj EJ, Verheij JBGM, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers EMHF, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel CTRM, Wennekes R, Stegmann APA, Reardon W, Leenders EKSM, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM: (2021) De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females. Genet Med. 2021;23(4): 645-652
  • Hetzelt KLML, Kerling F, Kraus C, Rauch C, Thiel CT, Winterholler M, Reis A, Zweier C: (2021) Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder. Eur J Med Genet. 2021;64(1):
  • Koeniger T, Bell L, Mifka A, Enders M, Hautmann V, Mekala SR, Kirchner P, Ekici AB, Schulz C, Wörsdörfer P, Mencl S, Kleinschnitz C, Ergün S, Kuerten S: (2021) Bone marrow-derived myeloid progenitors in the leptomeninges of adult mice. Stem Cells. 2021;39(2): 227-239
  • Andreev D, Liu M, Kachler K, Llerins Perez M, Kirchner P, Kölle J, Gießl A, Rauber S, Song R, Aust O, Grüneboom A, Kleyer A, Cañete JD, Ekici A, Ramming A, Finotto S, Schett G, Bozec A: (2021) Regulatory eosinophils induce the resolution of experimental arthritis and appear in remission state of human rheumatoid arthritis. Ann Rheum Dis. 2021;80(4): 451-468
  • Glubb DM, Thompson DJ, Aben KKH, Alsulimani A, Amant F, Annibali D, Attia J, Barricarte A, Beckmann MW, Berchuck A, Bermisheva M, Bernardini MQ, Bischof K, Bjorge L, Bodelon C, Brand AH, Brenton JD, Brinton LA, Bruinsma F, Buchanan DD, Burghaus S, Butzow R, Cai H, Carney ME, Chanock SJ, Chen C, Chen XQ, Chen Z, Cook LS, Cunningham JM, De Vivo I, deFazio A, Doherty JA, Dörk T, du Bois A, Dunning AM, Dürst M, Edwards T, Edwards RP, Ekici AB, Ewing A, Fasching PA, Ferguson S, Flanagan JM, Fostira F, Fountzilas G, Friedenreich CM, Gao B, Gaudet MM, Gawełko J, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harris HR, Harter P, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Høgdall E, Høgdall CK, Holliday EG, Huntsman DG, Huzarski T, Jakubowska A, Jensen A, Jones ME, Karlan BY, Karnezis A, Kelley JL, Khusnutdinova E, Killeen JL, Kjaer SK, Klapdor R, Köbel M, Konopka B, Konstantopoulou I, Kopperud RK, Koti M, Kraft P, Kupryjanczyk J, Lambrechts D, Larson MC, Le Marchand L, Lele S, Lester J, Li AJ, Liang D, Liebrich C, Lipworth L, Lissowska J, Lu L, Lu KH, Macciotta A, Mattiello A, May T, McAlpine JN, McGuire V, McNeish IA, Menon U, Modugno F, Moysich KB, Nevanlinna H, Odunsi K, Olsson H, Orsulic S, Osorio A, Palli D, Park-Simon TW, Pearce CL, Pejovic T, Permuth JB, Podgorska A, Ramus SJ, Rebbeck TR, Riggan MJ, Risch HA, Rothstein JH, Runnebaum IB, Scott RJ, Sellers TA, Senz J, Setiawan VW, Siddiqui N, Sieh W, Spiewankiewicz B, Sutphen R, Swerdlow AJ, Szafron LM, Teo SH, Thompson PJ, Thomsen LCV, Titus L, Tone A, Tumino R, Turman C, Vanderstichele A, Edwards DV, Vergote I, Vierkant RA, Wang Z, Wang-Gohrke S, Webb PM, OPAL Study Group , AOCS Group , White E, Whittemore AS, Winham SJ, Wu X, Wu AH, Yannoukakos D, Spurdle AB, O'Mara TA: (2021) Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers. Cancer Epidemiol Biomarkers Prev. 2021;30(1): 217-228
  • Bach C, Knaup KX, Herrmann M, Krumbiegel M, Pfister F, Büttner-Herold M, Steffen M, Zecher D, Lopau K, Schneider K, Dieterle A, Amann K, Reis A, Schiffer M, Spriewald BM, Wiesener MS: (2021) A noninvasive diagnostic approach to retrospective donor HLA typing in kidney transplant patients using urine. Transpl Int. 2021;34(7): 1226-1238
  • Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, Reis A, Thiel CT: (2021) Clinical and molecular delineation of spondylocostal dysostosis type 3. Clin Genet. 2021;99(6): 851-852
  • Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D: (2021) The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. J Mol Med. 2021;99(12): 1755-1768
  • Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva DC, Elçioglu N, Filges I, Gerkes E, Girisha KM, Graul-Neumann L, Jamsheer A, Krawitz P, Kurth I, Markus S, Megarbane A, Reis A, Reuter MS, Svoboda D, Teller C, Tuysuz B, Türkmen S, Wilson M, Woitschach R, Vater I, Caliebe A, Hülsemann W, Horn D, Mundlos S, Spielmann M: (2021) Genome sequencing in families with congenital limb malformations. Hum Genet. 2021;140(8): 1229-1239
  • Genetics of Exfoliation Syndrome Partnership , Li Z, Wang Z, Lee MC, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams SEI, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe SI, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim KS, Meah WY, Soo HM, Chen XY, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou ES, Mikropoulos DG, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur ME, Husain R, Perera SA, Álvarez L, García M, González-Iglesias H, Fernández-Vega Cueto A, Fernández-Vega Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasim B, Astakhov YS, Astakhov SY, Akopov EL, Giessl A, Mardin C, Hellerbrand C, Cooke Bailey JN, Igo RP, Haines JL, Edward DP, Heegaard S, Davila S, Tan P, Kang JH, Pasquale LR, Kruse FE, Reis A, Carmichael TR, Hauser M, Ramsay M, Mossböck G, Yildirim N, Tashiro K, Konstas AGP, Coca-Prados M, Foo JN, Kinoshita S, Sotozono C, Kubota T, Dubina M, Ritch R, Wiggs JL, Pasutto F, Schlötzer-Schrehardt U, Ho YS, Aung T, Tam WL, Khor CC: (2021) Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. JAMA. 2021;325(8): 753-764
  • Fasching PA, Yadav S, Hu C, Wunderle M, Häberle L, Hart SN, Rübner M, Polley EC, Lee KY, Gnanaolivu RD, Hadji P, Hübner H, Tesch H, Ettl J, Overkamp F, Lux MP, Ekici AB, Volz B, Uhrig S, Lüftner D, Wallwiener M, Müller V, Belleville E, Untch M, Kolberg HC, Beckmann MW, Reis A, Hartmann A, Janni W, Wimberger P, Taran FA, Fehm TN, Wallwiener D, Brucker SY, Schneeweiss A, Hartkopf AD, Couch FJ: (2021) Mutations in BRCA1/2 and Other Panel Genes in Patients With Metastatic Breast Cancer -Association With Patient and Disease Characteristics and Effect on Prognosis. J Clin Oncol. 2021;39(15): 1619-1630
  • Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D: (2021) Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. J Mol Med. 2021;99(12): 1769-1770
  • Haskamp S, Horowitz JS, Oji V, Philipp S, Sticherling M, Schäkel K, Schuhmann S, Prinz JC, Burkhardt H, Behrens F, Böhm B, Köhm M, Rech J, Simon D, Schett G, Morrison K, Gerdes S, Assmann G, Nimeh A, Schuster V, Jacobi A, Weyergraf A, Reis A, Uebe S, Wilsmann-Theis D, Mößner R, Hüffmeier U: (2021) Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany. J Invest Dermatol. 2021;141(8): 2079-2083
  • Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW: (2021) Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021;23(6): 1028-1040
  • Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, Kraus C, Wilson WG, Khan S, Krumbiegel M, Ekici AB, Uebe S, Trollmann R, Woelfle J, Reis A, Vasileiou G: (2021) BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome. J Clin Endocrinol Metab.. 2021;106(12): 3413-3427
  • Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF, UCLA California Center for Rare Disease , Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C: (2021) EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet J Rare Dis. 2021;16(1):
  • Lai X, Dreyer FS, Cantone M, Eberhardt M, Gerer KF, Jaitly T, Uebe S, Lischer C, Ekici A, Wittmann J, Jäck HM, Schaft N, Dörrie J, Vera J: (2021) Network- and systems-based re-engineering of dendritic cells with non-coding RNAs for cancer immunotherapy. Theranostics. 2021;11(3): 1412-1428
  • Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN, NEIGHBORHOOD consortium , ANZRAG consortium , Biobank Japan project , FinnGen study , UK Biobank Eye and Vision Consortium , GIGA study group , 23 and Me Research Team , Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL, Allingham RR, Brilliant M, Budenz DL, Bailey JNC, Fingert JH, Gaasterland D, Gaasterland T, Haines JL, Hauser M, Lee RK, Lichter PR, Liu Y, Moroi S, Myers J, Pericak-Vance M, Realini A, Rhee D, Richards JE, Ritch R, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Weinreb RN, Wollstein G, Zack DJ, Sharma S, Martin S, Zhou T, Souzeau E, Landers J, Fitzgerald JT, Mills RA, Craig J, Burdon K, Graham SL, Casson RJ, Goldberg I, White AJ, Healey PR, Mackey DA, Hewitt AW, Shiono M, Misumi K, Kaieda R, Harada H, Minami S, Emi M, Emoto N, Daida H, Miyauchi K, Murakami A, Asai S, Moriyama M, Takahashi Y, Fujioka T, Obara W, Mori S, Ito H, Nagayama S, Miki Y, Masumoto A, Yamada A, Nishizawa Y, Kodama K, Kutsumi H, Sugimoto Y, Koretsune Y, Kusuoka H, Yanaiag H, Nagai A, Hirata M, Kamatani Y, Muto K, Matsuda K, Kiyohara Y, Ninomiya T, Tamakoshi A, Yamagata Z, Mushiroda T, Murakami Y, Yuji K, Furukawa Y, Zembutsu H, Tanaka T, Ohnishi Y, Nakamura Y, Jalanko A, Kaprio J, Donner K, Kaunisto M, Mars N, Dada A, Shcherban A, Ganna A, Lehisto A, Kilpeläinen E, Brein G, Awaisa G, Harju J, Pärn K, Della Briotta Parolo P, Kajanne R, Lemmelä S, Sipilä TP, Sipilä T, Lyhs U, Llorens V, Niiranen T, Kristiansson K, Männikkö L, Jiménez MG, Perola M, Wong R, Kilpi T, Hiekkalinna T, Järvensivu E, Kaiharju E, Mattsson H, Laukkanen M, Laiho P, Lähteenmäki S, Sistonen T, Soini S, Ziemann A, Lehtonen A, Lertratanakul A, Georgantas B, Riley-Gillis B, Quarless D, Rahimov F, Heap G, Jacob H, Waring J, Davis JW, Smaoui N, Popovic R, Esmaeeli S, Waring J, Matakidou A, Challis B, Close D, Petrovski S, Karlsson A, Schleutker J, Pulkki K, Virolainen P, Kallio L, Mannermaa A, Heikkinen S, Kosma VM, Chen CY, Runz H, Liu J, Bronson P, John S, Lahdenperä S, Eaton S, Zhou W, Hendolin M, Tuovila O, Pakkanen R, Maranville J, Usiskin K, Hochfeld M, Plenge R, Yang R, Biswas S, Greenberg S, Laakkonen E, Kononen J, Paloneva J, Kujala U, Kuopio T, Laukkanen J, Kangasniemi E, Savinainen K, Laaksonen R, Arvas M, Ritari J, Partanen J, Hyvärinen K, Wahlfors T, Peterson A, Oh D, Chang D, Teng E, Strauss E, Kerchner G, Chen H, Chen H, Schutzman J, Michon J, Hunkapiller J, McCarthy M, Bowers N, Lu T, Bhangale T, Pulford D, Waterworth D, Kulkarni D, Xu F, Betts J, Gordillo JE, Hoffman J, Auro K, McCarthy L, Ghosh S, Ehm M, Pitkänen K, Mäkelä T, Loukola A, Joensuu H, Sinisalo J, Eklund K, Aaltonen L, Färkkilä M, Carpen O, Kauppi P, Tienari P, Ollila T, Tuomi T, Meretoja T, Pitkäranta A, Turunen J, Hannula-Jouppi K, Pikkarainen S, Seitsonen S, Koskinen M, Palomäki A, Rinne J, Metsärinne K, Elenius K, Pirilä L, Koulu L, Voutilainen M, Juonala M, Peltonen S, Aaltonen V, Loboda A, Podgornaia A, Chhibber A, Chu A, Fox C, Diogo D, Holzinger E, Eicher J, Gormley P, Mehta V, Wang X, Kettunen J, Pylkäs K, Kalaoja M, Karjalainen M, Hinttala R, Kaarteenaho R, Vainio S, Mantere T, Remes A, Huhtakangas J, Junttila J, Tasanen K, Huilaja L, Luodonpää M, Hautala N, Karihtala P, Kauppila S, Harju T, Blomster T, Soininen H, Harvima I, Pihlajamäki J, Kaarniranta K, Pelkonen M, Laakso M, Hiltunen M, Kiviniemi M, Kaipiainen-Seppänen O, Auvinen P, Kälviäinen R, Julkunen V, Malarstig A, Hedman Å, Marshall C, Whelan C, Lehtonen H, Parkkinen J, Linden K, Kalpala K, Miller M, Bing N, McDonough S, Chen X, Hu X, Wu Y, Auranen A, Jussila A, Uusitalo-Järvinen H, Kankaanranta H, Uusitalo H, Peltola J, Kähönen M, Isomäki P, Laitinen T, Salmi T, Muslin A, Wang C, Chatelain C, Xu E, Auge F, Call K, Klinger K, Crohns M, Gossel M, Palin K, Rivas M, Siirtola H, Tabuenca JG, Aslam T, Barman S, Barrett J, Bishop P, Bunce C, Carare R, Chakravarthy U, Chan M, Cipriani V, Day A, Desai P, Dhillon B, Dick A, Egan C, Ennis S, Foster P, Fruttiger M, Gallacher J, Garway-Heath D, Gibson J, Gore D, Guggenheim J, Hardcastle A, Harding S, Hogg R, Keane PA, Khaw PT, Khawaja A, Lascaratos G, Lotery AJ, Luthert P, Macgillivray T, Mackie S, Mcguinness B, Mckay G, Mckibbin M, Mitry D, Moore T, Morgan J, Muthy Z, O'Sullivan E, Owen C, Patel P, Paterson E, Peto T, Petzold A, Rahi J, Rudnicka A, Self J, Sivaprasad S, Steel D, Stratton I, Strouthidis N, Sudlow C, Thaung C, Thomas D, Trucco E, Tufail A, Vernon S, Viswanathan A, Williams C, Williams K, Woodside J, Yates M, Yip J, Zheng Y, Tapp R, Atan D, Doney A, Allen N, Littlejohns T, Sergouniotis P, Black G, Kanyaro N, Ntomoka C, Massaga JJ, Ikungura JK, Agee M, Aslibekyan S, Bell RK, Bryc K, Clark SK, Elson SL, Fletez-Brant K, Fontanillas P, Furlotte NA, Gandhi PM, Heilbron K, Hicks B, Hinds DA, Huber KE, Jewett EM, Jiang Y, Kleinman A, Lin KH, Litterman NK, McCreight JC, McIntyre MH, McManus KF, Mountain JL, Mozaffari SV, Nandakumar P, Noblin ES, Northover CAM, O'Connell J, Pitts SJ, Poznik GD, Sathirapongsasuti JF, Shastri AJ, Shelton JF, Shringarpure S, Tian C, Tung JY, Tunney RJ, Vacic V, Zare AS: (2021) Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nat Commun. 2021;12(1):
  • Jablonski J, Hoffmann L, Blümcke I, Fejtová A, Uebe S, Ekici AB, Gnatkovsky V, Kobow K: (2021) Experimental Epileptogenesis in a Cell Culture Model of Primary Neurons from Rat Brain: A Temporal Multi-Scale Study. Cells. 2021;10(11):
  • Souzeau E, Siggs OM, Pasutto F, Knight LSW, Perez-Jurado LA, McGregor L, Le Blanc S, Barnett CP, Liebelt J, Craig JE: (2021) Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants. Am J Med Genet A. 2021;185(2): 434-439
  • Fars J, Pasutto F, Kremers J, Huchzermeyer C: (2021) Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus. Invest Ophthalmol Vis Sci. 2021;62(14):
  • Souzeau E, Weisschuh N, Craig JE, Pasutto F, Koch KW: (2021) An Assessment of GUCA1C Variants in Primary Congenital Glaucoma. Genes (Basel). 2021;12(3):
  • Zebardast N, Sekimitsu S, Wang J, Elze T, Gharahkhani P, Cole BS, Lin MM, Segrè AV, Wiggs JL, International Glaucoma Genetics Consortium , Aung T, Craig JE, Cheng CY, Cooke Bailey JN, Cree AJ, Foster PJ, Gharahkhani P, Hammond CJ, Hewitt AW, Höhn R, Hysi PG, Iglesias AI, Jonas JB, Klaver CCW, Khawaja AP, Khor CC, Lotery AJ, MacGregor S, Mackey DA, Ong JS, Mitchell P, Pasquale LR, Pang C, Pasutto F, Pfeiffer N, Segre AV, van Duijn CM, Viswanathan AC, Vitart V, Vithana EN, Wiggs JL, Wojciechowski R, Young TL, Wong TY, Yazar S: (2021) Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank. Ophthalmology. 2021;128(9): 1300-1311
  • Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK: (2021) ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clin Genet. 2021;100(4): 412-429
  • Breast Cancer Association Consortium , Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, Törngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomäki K, Antonenkova NN, Arnold N, Arveux P, Ausems MGEM, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Białkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Briceno I, Brüning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collée JM, Cordina-Duverger E, Cornelissen S, Czene K, Dörk T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Försti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnæs GIG, Guénel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Humphreys K, Idris F, Jakubowska A, Jung A, Kapoor PM, Kerin MJ, Khusnutdinova E, Kim SW, Ko YD, Kosma VM, Kristensen VN, Kyriacou K, Lakeman IMM, Lee JW, Lee MH, Li J, Lindblom A, Lo WY, Loizidou MA, Lophatananon A, Lubiński J, MacInnis RJ, Madsen MJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, McLean C, Meindl A, Mensenkamp AR, Michailidou K, Miller N, Mohd Taib NA, Muir K, Mulligan AM, Nevanlinna H, Newman WG, Nordestgaard BG, Ng PS, Oosterwijk JC, Park SK, Park-Simon TW, Perez JIA, Peterlongo P, Porteous DJ, Prajzendanc K, Prokofyeva D, Radice P, Rashid MU, Rhenius V, Rookus MA, Rüdiger T, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Schürmann P, Shah M, Sohn C, Southey MC, Surowy H, Suvanto M, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tzardi M, Valova Y, van Asperen CJ, Van Dam RM, van den Ouweland AMW, van der Kolk LE, van Veen EM, Wendt C, Williams JA, Yang XR, Yoon SY, Zamora MP, Evans DG, de la Hoya M, Simard J, Antoniou AC, Borg Å, Andrulis IL, Chang-Claude J, García-Closas M, Chenevix-Trench G, Milne RL, Pharoah PDP, Schmidt MK, Spurdle AB, Vreeswijk MPG, Benitez J, Dunning AM, Kvist A, Teo SH, Devilee P, Easton DF: (2021) Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. N Engl J Med. 2021;384(5): 428-439
  • Schachtl-Riess JF, Kheirkhah A, Grüneis R, Di Maio S, Schoenherr S, Streiter G, Losso JL, Paulweber B, Eckardt KU, Köttgen A, Lamina C, Kronenberg F, Coassin S, GCKD Investigators , Eckardt KU, Meiselbach H, Schneider MP, Schiffer M, Prokosch HU, Bärthlein B, Beck A, Reis A, Ekici AB, Becker S, Becker-Grosspitsch D, Alberth-Schmidt U, Hausknecht B, Weigel A, Walz G, Köttgen A, Schultheiß UT, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Schaeffner E, Baid-Agrawal S, Theisen K, Haller H, Menne J, Zeier M, Sommerer C, Theilinger J, Wolf G, Busch M, Paul R, Sitter T, Wanner C, Krane V, Börner-Klein A, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Schmid M, Nadal J: (2021) Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease. J Am Coll Cardiol. 2021;78(5): 437-449
  • Kho PF, Mortlock S, Endometrial Cancer Association Consortium , International Endometriosis Genetics Consortium , Rogers PAW, Nyholt DR, Montgomery GW, Spurdle AB, Glubb DM, O'Mara TA, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Brinton L, Buchanan DD, Chanock SJ, Chen C, Chen MM, Cheng THT, Cook LS, Crous-Bous M, Czene K, Vivo I, Dennis J, Dörk T, Dowdy SC, Dunning AM, Dürst M, Easton DF, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, García-Closas M, Gaudet MM, Giles GG, Glubb DM, Goode EL, Haiman CA, Hall P, Hankinson SE, Healey CS, Hein A, Hillemanns P, Hodgson S, Hoivik E, Holliday EG, Hunter DJ, Jones A, Kraft P, Krakstad C, Lambrechts D, Marchand L, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Milne RL, Mints M, Nassir R, O'Mara TA, Orlow I, Otton G, Palles C, Pharoah PDP, Pooler L, Proietto T, Rebbeck TR, Renner SP, Risch HA, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu XO, Southey MC, Spurdle AB, Tham E, Thompson DJ, Tomlinson I, Trovik J, Turman C, Berg D, Wang Z, Webb PM, Wentzensen N, Winham SJ, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Sapkota Y, Steinthorsdottir V, Morris AP, Fassbender A, Rahmioglu N, Vivo I, Buring JE, Zhang F, Edwards TL, Jones S, Dorien O, Peterse D, Rexrode KM, Ridker PM, Schork AJ, MacGregor S, Martin NG, Becker CM, Adachi S, Yoshihara K, Enomoto T, Takahashi A, Kamatani Y, Matsuda K, Kubo M, Thorleifsson G, Geirsson RT, Thorsteinsdottir U, Wallace LM, Yang J, Digna R, Nyegaard M, Low SK, Zondervan KT, Missmer SA, D'Hooghe T, Montgomery GW, Chasman DI, Stefansson K, Tung JY, Nyholt DR: (2021) Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus. Hum Genet. 2021;140(9): 1353-1365
  • Kotsis F, Schultheiss UT, Wuttke M, Schlosser P, Mielke J, Becker MS, Oefner PJ, Karoly ED, Mohney RP, Eckardt KU, Sekula P, Köttgen A, GCKD Investigators , Eckardt KU, Meiselbach H, Schneider MP, Schiffer M, Prokosch HU, Bärthlein B, Beck A, Reis A, Ekici AB, Becker S, Becker-Grosspitsch D, Alberth-Schmidt U, Hausknecht B, Weigel A, Walz G, Köttgen A, Schultheiß UT, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Schaeffner E, Baid-Agrawal S, Theisen K, Haller H, Menne J, Zeier M, Sommerer C, Theilinger J, Wolf G, Busch M, Paul R, Sitter T, Wanner C, Krane V, Börner-Klein A, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Schmid M, Nadal J: (2021) Self-Reported Medication Use and Urinary Drug Metabolites in the German Chronic Kidney Disease (GCKD) Study. J Am Soc Nephrol. 2021;32(9): 2315-2329
  • Steinbrenner I, Schultheiss UT, Kotsis F, Schlosser P, Stockmann H, Mohney RP, Schmid M, Oefner PJ, Eckardt KU, Köttgen A, Sekula P, German Chronic Kidney Disease Investigators , Eckardt KU, Meiselbach H, Schneider MP, Schiffer M, Prokosch HU, Bärthlein B, Beck A, Reis A, Ekici AB, Becker S, Becker-Grosspitsch D, Alberth-Schmidt U, Hausknecht B, Weigel A, Walz G, Köttgen A, Schultheiß UT, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Schaeffner E, Baid-Agrawal S, Theisen K, Haller H, Menne J, Zeier M, Sommerer C, Theilinger J, Wolf G, Busch M, Paul R, Sitter T, Wanner C, Krane V, Börner-Klein A, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Schmid M, Nadal J: (2021) Urine Metabolite Levels, Adverse Kidney Outcomes, and Mortality in CKD Patients: A Metabolome-wide Association Study. Am J Kidney Dis. 2021;78(5): 669-677.e1
  • Escala-Garcia M, Canisius S, Keeman R, Beesley J, Anton-Culver H, Arndt V, Augustinsson A, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bojesen SE, Bolla MK, Brenner H, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Couch FJ, Czene K, Daly MB, Dennis J, Devilee P, Dörk T, Dunning AM, Easton DF, Ekici AB, Eliassen AH, Fasching PA, Flyger H, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Geisler J, Giles GG, Grip M, Gündert M, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Hartikainen JM, Heemskerk-Gerritsen BAM, Hollestelle A, Hoppe R, Hopper JL, Hunter DJ, Jacot W, Jakubowska A, John EM, Jung AY, Kaaks R, Khusnutdinova E, Koppert LB, Kraft P, Kristensen VN, Kurian AW, Lambrechts D, Le Marchand L, Lindblom A, Luben RN, Lubiński J, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Muranen TA, Nevanlinna H, Olshan AF, Olsson H, Park-Simon TW, Patel AV, Peterlongo P, Pharoah PDP, Punie K, Radice P, Rennert G, Rennert HS, Romero A, Roylance R, Rüdiger T, Ruebner M, Saloustros E, Sawyer EJ, Schmutzler RK, Schoemaker MJ, Scott C, Southey MC, Surowy H, Swerdlow AJ, Tamimi RM, Teras LR, Thomas E, Tomlinson I, Troester MA, Vachon CM, Wang Q, Winqvist R, Wolk A, Ziogas A, kConFab/AOCS Investigators , Michailidou K, Chenevix-Trench G, Bachelot T, Schmidt MK: (2021) Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis. Sci Rep. 2021;11(1):
  • Morra A, Escala-Garcia M, Beesley J, Keeman R, Canisius S, Ahearn TU, Andrulis IL, Anton-Culver H, Arndt V, Auer PL, Augustinsson A, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Bojesen SE, Bolla MK, Brenner H, Brüning T, Buys SS, Caan B, Campa D, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Cheng TD, Clarke CL, NBCS Collaborators , Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Dörk T, Dossus L, Dunning AM, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Flyger H, Fritschi L, Gago-Dominguez M, García-Sáenz JA, Giles GG, Grip M, Guénel P, Gündert M, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Hart SN, Hartikainen JM, Hartmann A, He W, Hooning MJ, Hoppe R, Hopper JL, Howell A, Hunter DJ, ABCTB Investigators , kConFab Investigators , Jager A, Jakubowska A, Janni W, John EM, Jung AY, Kaaks R, Keupers M, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kurian AW, Lacey JV, Lambrechts D, Le Marchand L, Lindblom A, Linet M, Luben RN, Lubiński J, Lush M, Mannermaa A, Manoochehri M, Margolin S, Martens JWM, Martinez ME, Mavroudis D, Michailidou K, Milne RL, Mulligan AM, Muranen TA, Nevanlinna H, Newman WG, Nielsen SF, Nordestgaard BG, Olshan AF, Olsson H, Orr N, Park-Simon TW, Patel AV, Peissel B, Peterlongo P, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Rack B, Rennert G, Rennert HS, Rhenius V, Romero A, Roylance R, Ruebner M, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Scott C, Shah M, Smichkoska S, Southey MC, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Teras LR, Terry MB, Tollenaar RAEM, Tomlinson I, Troester MA, Truong T, Vachon CM, Wang Q, Hurson AN, Winqvist R, Wolk A, Ziogas A, Brauch H, García-Closas M, Pharoah PDP, Easton DF, Chenevix-Trench G, Schmidt MK, Børresen-Dale AL, Sahlberg KK, Ottestad L, Kåresen R, Schlichting E, Holmen MM, Sauer T, Haakensen V, Engebråten O, Naume B, Fosså A, Kiserud CE, Reinertsen KV, Helland Å, Riis M, Geisler J, Grenaker Alnæs GI, Clarke C, Marsh D, Scott R, Baxter R, Yip D, Carpenter J, Davis A, Pathmanathan N, Simpson P, Graham JD, Sachchithananthan M: (2021) Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment. Breast Cancer Res. 2021;23(1):
  • Park J, Choi JY, Choi J, Chung S, Song N, Park SK, Han W, Noh DY, Ahn SH, Lee JW, Kim MK, Jee SH, Wen W, Bolla MK, Wang Q, Dennis J, Michailidou K, Shah M, Conroy DM, Harrington PA, Mayes R, Czene K, Hall P, Teras LR, Patel AV, Couch FJ, Olson JE, Sawyer EJ, Roylance R, Bojesen SE, Flyger H, Lambrechts D, Baten A, Matsuo K, Ito H, Guénel P, Truong T, Keeman R, Schmidt MK, Wu AH, Tseng CC, Cox A, Cross SS, kConFab Investigators , Andrulis IL, Hopper JL, Southey MC, Wu PE, Shen CY, Fasching PA, Ekici AB, Muir K, Lophatananon A, Brenner H, Arndt V, Jones ME, Swerdlow AJ, Hoppe R, Ko YD, Hartman M, Li J, Mannermaa A, Hartikainen JM, Benitez J, González-Neira A, Haiman CA, Dörk T, Bogdanova NV, Teo SH, Mohd Taib NA, Fletcher O, Johnson N, Grip M, Winqvist R, Blomqvist C, Nevanlinna H, Lindblom A, Wendt C, Kristensen VN, Nbcs Collaborators , Tollenaar RAEM, Heemskerk-Gerritsen BAM, Radice P, Bonanni B, Hamann U, Manoochehri M, Lacey JV, Martinez ME, Dunning AM, Pharoah PDP, Easton DF, Yoo KY, Kang D: (2021) Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies? Cancers (Basel). 2021;13(10):
  • Friščić J, Böttcher M, Reinwald C, Bruns H, Wirth B, Popp SJ, Walker KI, Ackermann JA, Chen X, Turner J, Zhu H, Seyler L, Euler M, Kirchner P, Krüger R, Ekici AB, Major T, Aust O, Weidner D, Fischer A, Andes FT, Stanojevic Z, Trajkovic V, Herrmann M, Korb-Pap A, Wank I, Hess A, Winter J, Wixler V, Distler J, Steiner G, Kiener HP, Frey B, Kling L, Raza K, Frey S, Kleyer A, Bäuerle T, Hughes TR, Grüneboom A, Steffen U, Krönke G, Croft AP, Filer A, Köhl J, Klein K, Buckley CD, Schett G, Mougiakakos D, Hoffmann MH: (2021) The complement system drives local inflammatory tissue priming by metabolic reprogramming of synovial fibroblasts. Immunity. 2021;54(5): 1002-1021.e10
  • Moosmann J, Toka O, Lukassen S, Ekici AB, Mackensen A, Völkl S, Dittrich S: (2021) Lymphocyte Immune Response and T Cell Differentiation in Fontan Patients with protein-losing enteropathy. Thorac Cardiovasc Surg. 2021;69(S 03): e10-e20
  • Kalinichenko LS, Mühle C, Jia T, Anderheiden F, Datz M, Eberle AL, Eulenburg V, Granzow J, Hofer M, Hohenschild J, Huber SE, Kämpf S, Kogias G, Lacatusu L, Lugmair C, Taku SM, Meixner D, Tesch N, Praetner M, Rhein C, Sauer C, Scholz J, Ulrich F, Valenta F, Weigand E, Werner M, Tay N, Mc Veigh CJ, Haase J, Wang AL, Abdel-Hafiz L, Huston JP, Smaga I, Frankowska M, Filip M, Lourdusamy A, Kirchner P, Ekici AB, Marx LM, Suresh NP, Frischknecht R, Fejtova A, Saied EM, Arenz C, Bozec A, Wank I, Kreitz S, Hess A, Bäuerle T, Ledesma MD, Mitroi DN, Miranda AM, Oliveira TG, Gulbins E, Lenz B, Schumann G, Kornhuber J, Müller CP: (2021) Neutral sphingomyelinase mediates the co-morbidity trias of alcohol abuse, major depression and bone defects. Mol Psychiatry. 2021;26(12): 7403-7416
  • Kar SP, Considine DPC, Tyrer JP, Plummer JT, Chen S, Dezem FS, Barbeira AN, Rajagopal PS, Rosenow WT, Moreno F, Bodelon C, Chang-Claude J, Chenevix-Trench G, deFazio A, Dörk T, Ekici AB, Ewing A, Fountzilas G, Goode EL, Hartman M, Heitz F, Hillemanns P, Høgdall E, Høgdall CK, Huzarski T, Jensen A, Karlan BY, Khusnutdinova E, Kiemeney LA, Kjaer SK, Klapdor R, Köbel M, Li J, Liebrich C, May T, Olsson H, Permuth JB, Peterlongo P, Radice P, Ramus SJ, Riggan MJ, Risch HA, Saloustros E, Simard J, Szafron LM, Titus L, Thompson CL, Vierkant RA, Winham SJ, Zheng W, Doherty JA, Berchuck A, Lawrenson K, Im HK, Manichaikul AW, Pharoah PDP, Gayther SA, Schildkraut JM: (2021) Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer. HGG Adv. 2021;2(3):
  • Baxter JS, Johnson N, Tomczyk K, Gillespie A, Maguire S, Brough R, Fachal L, Michailidou K, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Brucker SY, Cai Q, Campa D, Canzian F, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Choi JY, Clarke CL, NBCS Collaborators , Colonna S, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dossus L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Engel C, Fasching PA, Figueroa J, Flyger H, Gago-Dominguez M, Gao C, García-Closas M, García-Sáenz JA, Ghoussaini M, Giles GG, Goldberg MS, González-Neira A, Guénel P, Gündert M, Haeberle L, Hahnen E, Haiman CA, Hall P, Hamann U, Hartman M, Hatse S, Hauke J, Hollestelle A, Hoppe R, Hopper JL, Hou MF, kConFab Investigators , ABCTB Investigators , Ito H, Iwasaki M, Jager A, Jakubowska A, Janni W, John EM, Joseph V, Jung A, Kaaks R, Kang D, Keeman R, Khusnutdinova E, Kim SW, Kosma VM, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Kwong A, Lacey JV, Lambrechts D, Larson NL, Larsson SC, Le Marchand L, Lejbkowicz F, Li J, Long J, Lophatananon A, Lubiński J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Matsuo K, Mavroudis D, Mayes R, Menon U, Milne RL, Mohd Taib NA, Muir K, Muranen TA, Murphy RA, Nevanlinna H, O'Brien KM, Offit K, Olson JE, Olsson H, Park SK, Park-Simon TW, Patel AV, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Pylkäs K, Rack B, Rennert G, Romero A, Ruebner M, Rüdiger T, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Shah M, Shen CY, Shu XO, Simard J, Southey MC, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Teo SH, Teras LR, Terry MB, Toland AE, Tomlinson I, Truong T, Tseng CC, Untch M, Vachon CM, van den Ouweland AMW, Wang SS, Weinberg CR, Wendt C, Winham SJ, Winqvist R, Wolk A, Wu AH, Yamaji T, Zheng W, Ziogas A, Pharoah PDP, Dunning AM, Easton DF, Pettitt SJ, Lord CJ, Haider S, Orr N, Fletcher O: (2021) Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element. Am J Hum Genet. 2021;108(7): 1190-1203
  • Menendez-Castro C, Cordasic N, Fahlbusch FB, Ekici AB, Kirchner P, Daniel C, Amann K, Velkeen R, Wölfle J, Schiffer M, Hartner A, Hilgers KF: (2021) RNA sequencing reveals induction of specific renal inflammatory pathways in a rat model of malignant hypertension. J Mol Med. 2021;99(12): 1727-1740
  • Kapoor PM, Mavaddat N, Choudhury PP, Wilcox AN, Lindström S, Behrens S, Michailidou K, Dennis J, Bolla MK, Wang Q, Jung A, Abu-Ful Z, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Freeman LEB, Becher H, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bojesen SE, Brauch H, Brenner H, Brüning T, Cai Q, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chanock SJ, Chatterjee N, Chenevix-Trench G, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Dai JY, Earp HS, Ekici AB, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, Gaudet MM, Giles GG, González-Neira A, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hatse S, Heyworth J, Holleczek B, Hoover RN, Hopper JL, Howell A, Hunter DJ, ABCTB Investigators , kConFab/AOCS Investigators , John EM, Jones ME, Kaaks R, Keeman R, Kitahara CM, Ko YD, Koutros S, Kurian AW, Lambrechts D, Marchand LL, Lee E, Lejbkowicz F, Linet M, Lissowska J, Llaneza A, MacInnis RJ, Martinez ME, Maurer T, McLean C, Neuhausen SL, Newman WG, Norman A, O'Brien KM, Olshan AF, Olson JE, Olsson H, Orr N, Perou CM, Pita G, Polley EC, Prentice RL, Rennert G, Rennert HS, Ruddy KJ, Sandler DP, Saunders C, Schoemaker MJ, Schöttker B, Schumacher F, Scott C, Scott RJ, Shu XO, Smeets A, Southey MC, Spinelli JJ, Stone J, Swerdlow AJ, Tamimi RM, Taylor JA, Troester MA, Vachon CM, van Veen EM, Wang X, Weinberg CR, Weltens C, Willett W, Winham SJ, Wolk A, Yang XR, Zheng W, Ziogas A, Dunning AM, Pharoah PDP, Schmidt MK, Kraft P, Easton DF, Milne RL, García-Closas M, Chang-Claude J: (2021) Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk. J Natl Cancer Inst. 2021;113(3): 329-337
  • Raming R, Cordasic N, Kirchner P, Ekici AB, Fahlbusch FB, Woelfle J, Hilgers KF, Hartner A, Menendez-Castro C: (2021) Neonatal nephron loss during active nephrogenesis results in altered expression of renal developmental genes and markers of kidney injury. Physiol Genomics. 2021;53(12): 509-517
  • Wittmann MT, Katada S, Sock E, Kirchner P, Ekici AB, Wegner M, Nakashima K, Lie DC, Reis A: (2021) scRNA sequencing uncovers a TCF4-dependent transcription factor network regulating commissure development in mouse. Development. 2021;148(14):
  • Bayat A, Iqbal S, Borredy K, Amiel J, Zweier C, Barcia G, Kraus C, Weyhreter H, Bassuk AG, Chopra M, Rubboli G, Møller RS: (2021) PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. Eur J Hum Genet. 2021;29(8): 1235-1244
  • Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D: (2021) Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021;13(1):
  • Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, CAUSES Study , Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, SPARK Consortium , Earl RK, Nowakowski T, Bernier RA, Eichler EE, Acampado J, Ace AJ, Amatya A, Astrovskaya I, Bashar A, Brooks E, Butler ME, Cartner LA, Chin W, Chung WK, Daniels AM, Feliciano P, Fleisch C, Ganesan S, Jensen W, Lash AE, Marini R, Myers VJ, O'Connor E, Rigby C, Robertson BE, Shah N, Shah S, Singer E, Snyder LAG, Stephens AN, Tjernagel J, Vernoia BM, Volfovsky N, White LC, Hsieh A, Shen Y, Zhou X, Turner TN, Bahl E, Thomas TR, Brueggeman L, Koomar T, Michaelson JJ, O'Roak BJ, Barnard RA, Gibbs RA, Muzny D, Sabo A, Baalman Ahmed KL, Eichler EE, Siegel M, Abbeduto L, Amaral DG, Hilscher BA, Li D, Smith K, Thompson S, Albright C, Butter EM, Eldred S, Hanna N, Jones M, Coury DL, Scherr J, Pifher T, Roby E, Dennis B, Higgins L, Brown M, Alessandri M, Gutierrez A, Hale MN, Herbert LM, Schneider HL, David G, Annett RD, Sarver DE, Arriaga I, Camba A, Gulsrud AC, Haley M, McCracken JT, Sandhu S, Tafolla M, Yang WS, Carpenter LA, Bradley CC, Gwynette F, Manning P, Shaffer R, Thomas C, Bernier RA, Fox EA, Gerdts JA, Pepper M, Ho T, Cho D, Piven J, Lechniak H, Soorya LV, Gordon R, Wainer A, Yeh L, Ochoa-Lubinoff C, Russo N, Berry-Kravis E, Booker S, Erickson CA, Prock LM, Pawlowski KG, Matthews ET, Brewster SJ, Hojlo MA, Abada E, Lamarche E, Wang T, Murali SC, Harvey WT, Kaplan HE, Pierce KL, DeMarco L, Horner S, Pandey J, Plate S, Sahin M, Riley KD, Carmody E, Constantini J, Esler A, Fatemi A, Hutter H, Landa RJ, McKenzie AP, Neely J, Singh V, Van Metre B, Wodka EL, Fombonne EJ, Huang-Storms LY, Pacheco LD, Mastel SA, Coppola LA, Francis S, Jarrett A, Jacob S, Lillie N, Gunderson J, Istephanous D, Simon L, Wasserberg O, Rachubinski AL, Rosenberg CR, Kanne SM, Shocklee AD, Takahashi N, Bridwell SL, Klimczac RL, Mahurin MA, Cotrell HE, Grant CA, Hunter SG, Martin CL, Taylor CM, Walsh LK, Dent KA, Mason A, Sziklay A, Smith CJ: (2021) Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021;13(1):
  • Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB: (2021) Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genet Med. 2021;23(7): 1234-1245
  • Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z: (2021) DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021;23(5): 888-899
  • Kosztyła-Hojna B, Borys J, Zdrojkowski M, Duchnowska E, Kraszewska A, Wasilewska D, Zweier C, Midro AT: (2021) Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study. Appl Clin Genet. 2021;14(): 389-398
  • Liu S, Aldinger KA, Cheng CV, Kiyama T, Dave M, McNamara HK, Zhao W, Stafford JM, Descostes N, Lee P, Caraffi SG, Ivanovski I, Errichiello E, Zweier C, Zuffardi O, Schneider M, Papavasiliou AS, Perry MS, Humberson J, Cho MT, Weber A, Swale A, Badea TC, Mao CA, Garavelli L, Dobyns WB, Reinberg D: (2021) NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Mol Cell. 2021;81(22): 4663-4676.e8
  • Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D: (2021) Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021;42(6): 762-776
  • Rumbou A, Candresse T, von Bargen S, Büttner C: (2021) Next-Generation Sequencing Reveals a Novel Emaravirus in Diseased Maple Trees From a German Urban Forest. Front Microbiol. 2021;11():
  • Gombert S, Rhein M, Winterpacht A, Münster T, Hillemacher T, Leffler A, Frieling H: (2021) Correction to: Transient receptor potential ankyrin 1 promoter methylation and peripheral pain sensitivity in Crohn's disease. Clin Epigenetics. 2021;13(1):
  • Schlosser P, Tin A, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Weihs A, Yu Z, Hoppmann A, Grundner-Culemann F, Min JL, Adeyemo AA, Agyemang C, Ärnlöv J, Aziz NA, Baccarelli A, Bochud M, Brenner H, Breteler MMB, Carmeli C, Chaker L, Chambers JC, Cole SA, Coresh J, Corre T, Correa A, Cox SR, de Klein N, Delgado GE, Domingo-Relloso A, Eckardt KU, Ekici AB, Endlich K, Evans KL, Floyd JS, Fornage M, Franke L, Fraszczyk E, Gao X, Gào X, Ghanbari M, Ghasemi S, Gieger C, Greenland P, Grove ML, Harris SE, Hemani G, Henneman P, Herder C, Horvath S, Hou L, Hurme MA, Hwang SJ, Jarvelin MR, Kardia SLR, Kasela S, Kleber ME, Koenig W, Kooner JS, Kramer H, Kronenberg F, Kühnel B, Lehtimäki T, Lind L, Liu D, Liu Y, Lloyd-Jones DM, Lohman K, Lorkowski S, Lu AT, Marioni RE, März W, McCartney DL, Meeks KAC, Milani L, Mishra PP, Nauck M, Navas-Acien A, Nowak C, Peters A, Prokisch H, Psaty BM, Raitakari OT, Ratliff SM, Reiner AP, Rosas SE, Schöttker B, Schwartz J, Sedaghat S, Smith JA, Sotoodehnia N, Stocker HR, Stringhini S, Sundström J, Swenson BR, Tellez-Plaza M, van Meurs JBJ, van Vliet-Ostaptchouk JV, Venema A, Verweij N, Walker RM, Wielscher M, Winkelmann J, Wolffenbuttel BHR, Zhao W, Zheng Y, Estonian Biobank Research Team , Genetics of DNA Methylation Consortium , Loh M, Snieder H, Levy D, Waldenberger M, Susztak K, Köttgen A, Teumer A, Milani L: (2021) Meta-analyses identify DNA methylation associated with kidney function and damage. Nat Commun. 2021;12(1):
  • Tin A, Schlosser P, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Yu Z, Weihs A, Hoppmann A, Grundner-Culemann F, Min JL, Kuhns VLH, Adeyemo AA, Agyemang C, Ärnlöv J, Aziz NA, Baccarelli A, Bochud M, Brenner H, Bressler J, Breteler MMB, Carmeli C, Chaker L, Coresh J, Corre T, Correa A, Cox SR, Delgado GE, Eckardt KU, Ekici AB, Endlich K, Floyd JS, Fraszczyk E, Gao X, Gào X, Gelber AC, Ghanbari M, Ghasemi S, Gieger C, Greenland P, Grove ML, Harris SE, Hemani G, Henneman P, Herder C, Horvath S, Hou L, Hurme MA, Hwang SJ, Kardia SLR, Kasela S, Kleber ME, Koenig W, Kooner JS, Kronenberg F, Kühnel B, Ladd-Acosta C, Lehtimäki T, Lind L, Liu D, Lloyd-Jones DM, Lorkowski S, Lu AT, Marioni RE, März W, McCartney DL, Meeks KAC, Milani L, Mishra PP, Nauck M, Nowak C, Peters A, Prokisch H, Psaty BM, Raitakari OT, Ratliff SM, Reiner AP, Schöttker B, Schwartz J, Sedaghat S, Smith JA, Sotoodehnia N, Stocker HR, Stringhini S, Sundström J, Swenson BR, van Meurs JBJ, van Vliet-Ostaptchouk JV, Venema A, Völker U, Winkelmann J, Wolffenbuttel BHR, Zhao W, Zheng Y, Estonian Biobank Research Team , Genetics of DNA Methylation Consortium , Loh M, Snieder H, Waldenberger M, Levy D, Akilesh S, Woodward OM, Susztak K, Teumer A, Köttgen A: (2021) Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus. Nat Commun. 2021;12(1):
  • Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M: (2021) Making sense of missense variants in TTN-related congenital myopathies. Acta Neuropathol (Berl). 2021;141(3): 431-453
  • Rapaport F, Boisson B, Gregor A, Béziat V, Boisson-Dupuis S, Bustamante J, Jouanguy E, Puel A, Rosain J, Zhang Q, Zhang SY, Gleeson JG, Quintana-Murci L, Casanova JL, Abel L, Patin E: (2021) Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance. Proc Natl Acad Sci U S A. 2021;118(3):
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