Publikationen 2020

Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, Lopez-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M: (2020) Skeletal abnormalities are common features in Aymé-Gripp syndrome. Clin Genet. 2020;97(2): 362-369
Wiesener A, Knaup KX, Büttner-Herold M, Dieterle A, Stoeckert J, Riedl B, Morath C, Wald A, Vondran F, Braun F, Schödel J, Schueler M, Schiffer M, Amann K, Reis A, Kraus C, Wiesener MS: (2020) Molecular diagnosis of kidney transplant failure based on urine. Am J Transplant. 2020;20(5): 1410-1416
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Undiagnosed Diseases Network, , Eichler EE, Vincent JB, University of Washington Center for Mendelian Genomics (UW-CMG), , Bamshad MJ: (2020) De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020;22(3): 538-546
Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A, Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA: (2020) De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. Genet Med. 2020;22(4): 797-802
Heichler C, Scheibe K, Schmied A, Geppert CI, Schmid B, Wirtz S, Thoma OM, Kramer V, Waldner MJ, Büttner C, Farin HF, Pešić M, Knieling F, Merkel S, Grüneboom A, Gunzer M, Grützmann R, Rose-John S, Koralov SB, Kollias G, Vieth M, Hartmann A, Greten FR, Neurath MF, Neufert C: (2020) STAT3 activation through IL-6/IL-11 in cancer-associated fibroblasts promotes colorectal tumour development and correlates with poor prognosis. Gut. 2020;69(7): 1269-1282
Maas R, Mieth M, Titze SI, Hübner S, Fromm MF, Kielstein JT, Schmid M, Köttgen A, Kronenberg F, Krane V, Hausknecht B, Eckardt KU, Schneider MP, GCKD study Investigators , Eckardt KU, Meiselbach H, Schneider M, Dienemann T, Prokosch HU, Bärthlein B, Reis A, Ekici AB, Avendano S, Becker-Grosspitsch D, Alberth-Schmidt U, Hausknecht B, Zitzmann R, Weigel A, Beck A, Ganslandt T, Walz G, Köttgen A, Schultheiß U, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Schlieper G, Saritas T, Ernst S, Beaujean N, Schaeffner E, Baid-Agrawal S, Theisen K, Haller H, Menne J, Zeier M, Sommerer C, Woitke R, Wolf G, Busch M, Fuß R, Sitter T, Blank C, Wanner C, Krane V, Börner-Klein A, Cäsar S, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Zacharias H, Schmid M, Nadal J: (2020) Drugs linked to plasma homoarginine in chronic kidney disease patients-a cross-sectional analysis of the German Chronic Kidney Disease cohort. Nephrol Dial Transplant. 2020;35(7): 1187-1195
Wuerfel FM, Huebner H, Häberle L, Gass P, Hein A, Jud SM, Hack CC, Wunderle M, Schulz-Wendtland R, Erber R, Hartmann A, Ekici AB, Beckmann MW, Fasching PA, Ruebner M: (2020) HLA-G and HLA-F protein isoform expression in breast cancer patients receiving neoadjuvant treatment. Sci Rep. 2020;10(1):
Karg M, John L, Refaian N, Buettner C, Rottmar T, Sommer J, Bock B, Resheq Y, Ksander B, Heindl LM, Mackensen A, Bosch J: (2020) Midkine is a tumor cell survival factor that displays metastatic and therapeutic resistance functions in uveal melanoma Invest Ophthalmol Vis Sci. 2020;61(7):
Boerstler T, Wend H, Krumbiegel M, Kavyanifar A, Reis A, Lie DC, Winner B, Turan S: (2020) CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome. Stem Cell Res. 2020;47():
Straub J, Gregor A, Sauerer T, Fliedner A, Distel L, Suchy C, Ekici AB, Ferrazzi F, Zweier C: (2020) Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster. Sci Rep. 2020;10(1):
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ: (2020) Genetic and phenotypic spectrum associated with IFIH1 gain-of-function. Hum Mutat. 2020;41(4): 837-849
Popp B, Erber R, Kraus C, Vasileiou G, Hoyer J, Burghaus S, Hartmann A, Beckmann MW, Reis A, Agaimy A: (2020) Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants. Mod Pathol. 2020;33(11): 2341-2353
Hetzelt KLML, Kraus C, Kusnik S, Thiel CT, Uebe S, Ekici AB, Trollmann R, Reis A, Zweier C: (2020) A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2. Eur J Med Genet. 2020;63(9):
Rieger M, Krumbiegel M, Reuter MS, Schützenberger A, Reis A, Zweier C: (2020) 7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder. Am J Med Genet A. 2020;182(11): 2737-2741
Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, Kohlschmidt N, Prawitt D, Beckmann A, Klaes R, Nevinny-Stickel-Hinzpeter C, Döhnert S, Kraus C, Kadgien G, Vater I, Biskup S, Kutsche M, Kohlhase J, Eggermann T, Zenker M, Kratz CP: (2020) Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study. Br J Cancer. 2020;123(4): 619-623
Fliedner A, Gregor A, Ferrazzi F, Ekici AB, Sticht H, Zweier C: (2020) Loss of PHF6 leads to aberrant development of human neuron-like cells. Sci Rep. 2020;10(1):
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H, UCLA Clinical Genomics Center , Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C, Nelson SF, Grody WW, Lee H, Deignan JL, Kang SH, Arboleda VA, Senaratne TN, Dorrani N, Dutra-Clarke MS, Kianmahd J, Hinkamp FL, Neustadt AM, Martinez-Agosto JA, Fogel BL, Quintero-Rivera F: (2020) Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. Am J Hum Genet. 2020;107(3): 544-554
von Wittgenstein J, Zheng F, Wittmann MT, Balta EA, Ferrazzi F, Schäffner I, Häberle BM, Valero-Aracama MJ, Koehl M, Miranda CJ, Kaspar BK, Ekici AB, Reis A, Abrous DN, Alzheimer C, Lie DC: (2020) Sox11 is an Activity-Regulated Gene with Dentate-Gyrus-Specific Expression Upon General Neural Activation. Cereb Cortex. 2020;30(6): 3731-3743
Behne R, Teinert J, Wimmer M, D'Amore A, Davies AK, Scarrott JM, Eberhardt K, Brechmann B, Chen IP, Buttermore ED, Barrett L, Dwyer S, Chen T, Hirst J, Wiesener A, Segal D, Martinuzzi A, Duarte ST, Bennett JT, Bourinaris T, Houlden H, Roubertie A, Santorelli FM, Robinson M, Azzouz M, Lipton JO, Borner GHH, Sahin M, Ebrahimi-Fakhari D: (2020) Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020;29(2): 320-334
Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert-Lo R, Haack T, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM: (2020) Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND). Eur J Med Genet. 2020;63(10):
Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, Delobel B, Smol T, Thuillier C, Zordan C, Naudion S, Bienvenu T, Touraine R, Ramond F, Zweier C, Reis A, Kraus C, Nizon M, Cogné B, Verloes A, Tran Mau-Them F, Sorlin A, Jouan T, Duffourd Y, Tisserant E, Philippe C, Vitobello A, Thevenon J, Faivre L, Thauvin-Robinet C: (2020) Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Clin Genet. 2020;98(1): 43-55
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium , Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT: (2020) Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020;22(7): 1215-1226
Skowronek D, Hebebrand M, Erber R, Agaimy A, Zweier C, Felbor U, Rath M: (2020) Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations. Eur J Dermatol. 2020;30(2): 179-181
Clahsen T, Büttner C, Hatami N, Reis A, Cursiefen C: (2020) Role of Endogenous Regulators of Hem- And Lymphangiogenesis in Corneal Transplantation. J Clin Med. 2020;9(2):
Frey S, Sticht H, Wilsmann-Theis D, Gerschütz A, Wolf K, Löhr S, Haskamp S, Frey B, Hahn M, Ekici AB, Uebe S, Thiel C, Reis A, Burkhardt H, Behrens F, Köhm M, Rech J, Schett G, Assmann G, Kingo K, Kõks S, Mössner R, Prinz JC, Oji V, Schulz P, Muñoz LE, Kremer AE, Wenzel J, Hüffmeier U: (2020) Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis. J Invest Dermatol. 2020;140(7): 1451-1455.e13
Vasileiou G, Costa MJ, Long C, Wetzler IR, Hoyer J, Kraus C, Popp B, Emons J, Wunderle M, Wenkel E, Uder M, Beckmann MW, Jud SM, Fasching PA, Cavallaro A, Reis A, Hammon M: (2020) Breast MRI texture analysis for prediction of BRCA-associated genetic risk. BMC Med Imaging. 2020;20(1):
Wedel M, Fröb F, Elsesser O, Wittmann MT, Lie DC, Reis A, Wegner M: (2020) Transcription factor Tcf4 is the preferred heterodimerization partner for Olig2 in oligodendrocytes and required for differentiation. Nucleic Acids Res. 2020;48(9): 4839-4857
Haskamp S, Bruns H, Hahn M, Hoffmann M, Gregor A, Löhr S, Hahn J, Schauer C, Ringer M, Flamann C, Frey B, Lesner A, Thiel CT, Ekici AB, von Hörsten S, Aßmann G, Riepe C, Euler M, Schäkel K, Philipp S, Prinz JC, Mößner R, Kersting F, Sticherling M, Sefiani A, Lyahyai J, Sondermann W, Oji V, Schulz P, Wilsmann-Theis D, Sticht H, Schett G, Reis A, Uebe S, Frey S, Hüffmeier U: (2020) Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases. Am J Hum Genet. 2020;107(3): 527-538
Huber A, Killy B, Grummel N, Bodendorfer B, Paul S, Wiesmann V, Naschberger E, Zimmer J, Wirtz S, Schleicher U, Vera J, Ekici AB, Dalpke A, Lang R: (2020) Mycobacterial Cord Factor Reprograms the Macrophage Response to IFN-γ towards Enhanced Inflammation yet Impaired Antigen Presentation and Expression of GBP1. J Immunol. 2020;205(6): 1580-1592
Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, Chaloner C, Barbosa IA, August S, Burden AD, Choon SE, Cooper H, Navarini AA, Reynolds NJ, Wahie S, Warren RB, Wright A, APRICOT and PLUM study team , Huffmeier U, Baum P, Visvanathan S, Barker JN, Smith CH, Capon F, Abraham T, Ali M, August S, Baudry D, Bewley A, Cooper H, Ingram J, Kelly S, Korshid M, Ladoyanni E, McKenna J, Meynell F, Parslew R, Patel P, Pushparajah A, Reynolds N, Smith C, Wahie S, Warren R, Wright A: (2020) Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease. Am J Hum Genet. 2020;107(3): 539-543
Schlosser P, Li Y, Sekula P, Raffler J, Grundner-Culemann F, Pietzner M, Cheng Y, Wuttke M, Steinbrenner I, Schultheiss UT, Kotsis F, Kacprowski T, Forer L, Hausknecht B, Ekici AB, Nauck M, Völker U, GCKD Investigators , Walz G, Oefner PJ, Kronenberg F, Mohney RP, Köttgen M, Suhre K, Eckardt KU, Kastenmüller G, Köttgen A: (2020) Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans. Nat Genet. 2020;52(2): 167-176
Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O'Mara TA, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN, kConFab Investigators , ABCTB Investigators , Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khan S, Khusnutdinova E, Kitahara CM, Ko YD, Konstantopoulou I, Koppert LB, Koutros S, Kristensen VN, Laenkholm AV, Lambrechts D, Larsson SC, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo WY, Loud JT, Lubinski J, Lukomska A, MacInnis RJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan AM, Mulot C, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Nielsen FC, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade OI, Olsson H, Orr N, Papi L, Papp J, Park-Simon TW, Parsons MT, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips KA, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus SJ, Rantala J, Rashid MU, Rennert G, Rennert HS, Risch HA, Romero A, Rookus MA, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler DP, Sawyer EJ, Scheuner MT, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman ME, Shu XO, Singer CF, Smichkoska S, Soucy P, Southey MC, Spinelli JJ, Stone J, Stoppa-Lyonnet D, EMBRACE Study , GEMO Study Collaborators , Swerdlow AJ, Szabo CI, Tamimi RM, Tapper WJ, Taylor JA, Teixeira MR, Terry M, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van den Ouweland AMW, van der Kolk LE, van Veen EM, vanRensburg EJ, Vega A, Wappenschmidt B, Weinberg CR, Weitzel JN, Wildiers H, Winqvist R, Wolk A, Yang XR, Yannoukakos D, Zheng W, Zorn KK, Milne RL, Kraft P, Simard J, Pharoah PDP, Michailidou K, Antoniou AC, Schmidt MK, Chenevix-Trench G, Easton DF, Chatterjee N, García-Closas M: (2020) Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet. 2020;52(6): 572-581
Kasper BS, Kraus C, Schwarz M, Rösch J, Thiel CT, Reis A, Zweier C: (2020) A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy. Am J Med Genet A. 2020;182(11): 2761-2764
Matthaei M, Clahsen T, Buettner C, Ekici A, Siebelmann S, Heindl LM, Bachmann B, Cursiefen C, Hribek A: (2020) MiR-29 related deposition of extracellular matrix in Fuchs endothelial corneal dystrophy Invest Ophthalmol Vis Sci. 2020;61(7):
Spriewald BM, Herrmann M, Bach C, Knaup KX, Krumbiegel M, Reis A, Schiffer M, Wiesener M: (2020) A NEW DIAGNOSTIC APPROACH TO HLA TESTING IN KIDNEY TRANSPLANT RECIPIENTS USING CULTURED URINE DERIVED TUBULAR CELLS HLA. 2020;95(4): 313-313
Mirzaa GM, Piton A, Chong J, Gripp K, Walsh L, Zeid N, Yang A, Popp B, Aldinger KA, Cho M: (2020) DE NOVO AND INHERITED VARIANTS IN ZNF292 UNDELRIE A NEURODEVELOPMENTAL DISORDER WITH FEATURES OF AUTISM SPECTRUM DISORDER Am J Med Genet A. 2020;182(4): 931-931
Eiber N, Fröb F, Schowalter M, Thiel C, Clemen CS, Schröder R, Hashemolhosseini S: (2020) Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions. Front Mol Neurosci. 2020;13():
Feldker N, Ferrazzi F, Schuhwerk H, Widholz SA, Guenther K, Frisch I, Jakob K, Kleemann J, Riegel D, Bönisch U, Lukassen S, Eccles RL, Schmidl C, Stemmler MP, Brabletz T, Brabletz S: (2020) Genome-wide cooperation of EMT transcription factor ZEB1 with YAP and AP-1 in breast cancer. EMBO J. 2020;39(17):
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M: (2020) Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020;143(10): 2929-2944
Fazzini F, Lamina C, Raschenberger J, Schultheiss UT, Kotsis F, Schönherr S, Weissensteiner H, Forer L, Steinbrenner I, Meiselbach H, Bärthlein B, Wanner C, Eckardt KU, Köttgen A, Kronenberg F, GCKD Investigators , Eckardt KU, Meiselbach H, Schneider M, Dienemann T, Prokosch HU, Bärthlein B, Beck A, Ganslandt T, Reis A, Ekici AB, Avendaño S, Becker-Grosspitsch D, Alberth-Schmidt U, Hausknecht B, Zitzmann R, Weigel A, Walz G, Köttgen A, Schultheiß UT, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Schlieper G, Saritas T, Ernst S, Beaujean N, Schaeffner E, Baid-Agrawal S, Theisen K, Haller H, Menne J, Zeier M, Sommerer C, Woitke R, Wolf G, Busch M, Fuß R, Sitter T, Blank C, 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, Zacharias H, Schmid M, Nadal J: (2020) Results from the German Chronic Kidney Disease (GCKD) study support association of relative telomere length with mortality in a large cohort of patients with moderate chronic kidney disease. Kidney Int. 2020;98(2): 488-497
Assmann G, Köhm M, Schuster V, Behrens F, Mössner R, Magnolo N, Oji V, Burkhardt H, Hüffmeier U: (2020) Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups. BMC Med Genet. 2020;21(1):
Baier J, Gänsbauer M, Giessler C, Arnold H, Muske M, Schleicher U, Lukassen S, Ekici AB, Rauh M, Daniel C, Hartmann A, Schmid B, Tripal P, Dettmer K, Oefner PJ, Atreya R, Wirtz S, Bogdan C, Mattner J: (2020) Arginase impedes the resolution of colitis by altering the microbiome and metabolome. J Clin Invest. 2020;130(11): 5703-5720
Ramachandran D, Schuermann P, Mao QQ, Wang YY, Bretschneider LM, Speith LM, Huelse F, Enssen J, Bousset K, Jentschke M, Boehmer G, Strauss HG, Hirchenhain C, Schmidmayr M, Tarbiat J, Runnebaum I, Duerst M, Hein A, Koch M, Ruebner M, Ekici A, Beckmann MW, Fasching PA, Luyten A, Petry KU, Hillemanns P, Doerk T: (2020) Association of genomic variants at the human leukocyte antigen locus with cervical cancer risk, HPV status and gene expression levels. Int J Cancer. 2020;147(9): 2458-2468

Schriftgröße anpassen

Publikationen 2020

Publikationen 2020

Notfall

Notfallinformationen UKER

Patienten & Besucher

Ärzte & Zuweiser

Forschung

Lehre