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Publikations 2023

Publications 2023

  • 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, Sembritzki NK, 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, Lenz B, Schumann G, Kornhuber J, Müller CP: (2023) Adult alcohol drinking and emotional tone are mediated by neutral sphingomyelinase during development in males. Cereb Cortex. 2023;33(3): 844-864
  • Schneider MO, Pretscher J, Goecke TW, Häberle L, Engel A, Kornhuber J, Eichler A, Ekici AB, Beckmann MW, Fasching PA, Schwenke E: (2023) Genetic variants in the genes of the sex steroid hormone metabolism and depressive symptoms during and after pregnancy. Arch Gynecol Obstet. 2023;307(6): 1763-1770
  • Strecker T, Wiesmueller F, Rudnik-Schöneborn S, Hoyer J, Reis A, Weyand M, Agaimy A: (2023) Familial acute aortic dissection associated with a novel ACTA2 germline variant. Virchows Arch. 2023;482(2): 437-443
  • Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, Oneda B, Rauch A, Reis A, Krumbiegel M, Hüffmeier U: (2023) Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay. Eur J Med Genet. 2023;66(1):
  • Akdaş EY, Turan S, Guhathakurta D, Ekici A, Salar S, Lie DC, Winner B, Fejtova A: (2023) CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome. Stem Cell Res. 2023;67():
  • Naschberger E, Fuchs M, Dickel N, Kunz M, Popp B, Anchang CG, Demmler R, Lyu Y, Uebe S, Ekici AB, Geppert CI, Hartmann A, Flierl C, Petter K, Gass T, Völkl S, Scharl M, Ramming A, Günther C, Merkel S, Schellerer VS, Stürzl M: (2023) Tumor microenvironment-dependent epigenetic imprinting in the vasculature predicts colon cancer outcome. Cancer Commun (Lond). 2023;43(11): 1280-1285
  • Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke J, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stoebe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Miguez MP, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold E, Haack T, Bertoli M, Hoffjan S, Falb R, Shinawi M, Ekici AB, Uebe S, Turan S, Winner B, Sticht H, Zweier C: (2023) FBXO11 haploinsufficiency also stems from de novo missense variants and impairs neuronal differentiation and migration in an iPSC-based neuronal model Eur J Hum Genet. 2023;31 Suppl 1(): 28-29
  • Friščić J, Reinwald C, Böttcher M, Houtman M, Euler M, Chen X, Walker KI, Kirchner P, Zhu H, Wirth B, Weidner D, Krüger R, Trajkovic V, Ekici AB, Klein K, Mougiakakos D, Ospelt C, Schett G, Hoffmann MH: (2023) Reset of Inflammatory Priming of Joint Tissue and Reduction of the Severity of Arthritis Flares by Bromodomain Inhibition. Arthritis Rheumatol. 2023;75(4): 517-532
  • Ullrich KA, Derdau J, Baltes C, Battistella A, Rosso G, Uderhardt S, Schulze LL, Liu LJ, Dedden M, Spocinska M, Kainka L, Kubánková M, Müller TM, Schmidt NM, Becker E, Ben Brahim O, Atreya I, Finotto S, Prots I, Wirtz S, Weigmann B, López-Posadas R, Atreya R, Ekici AB, Lautenschläger F, Guck J, Neurath MF, Zundler S: (2023) IL-3 receptor signalling suppresses chronic intestinal inflammation by controlling mechanobiology and tissue egress of regulatory T cells. Gut. 2023;72(11): 2081-2094
  • Reljic D, Koller A, Herrmann HJ, Ekici AB, Neurath MF, Zopf Y: (2023) Differential Effects of Very-Low-Volume Exercise Modalities on Telomere Length, Inflammation, and Cardiometabolic Health in Obese Metabolic Syndrome Patients: A Subanalysis from Two Randomized Controlled Trials. Antioxidants (Basel). 2023;12(10):
  • Ekici A, Knaup K, Schneider K, Wopperer F, Wiesener A, Dieterle A, Schiffer M, Reis A, Pasutto F, Wiesener M: (2023) WHENWHOLE EXOME SEQUENCING IS NOT GOOD ENOUGH: BACK TO THE ROOTS OR FORWARD TO THE FUTURE Nephrol Dial Transplant. 2023;38 Suppl 1(): I224-I225
  • Böhme R, Daniel C, Ferrazzi F, Angeloni M, Ekici AB, Winkler TH, Hilgers KF, Wellmann U, Voll RE, Amann K: (2023) Cardiovascular changes in the NZB/W F1 mouse model of lupus nephritis. Front Cardiovasc Med. 2023;10():
  • Ullrich K, Derdau J, Baltes C, Rosso G, Uderhardt S, Schulze LL, Liu LJ, Dedden M, Spocinska M, Kainka L, Kubankova M, Mueller TM, Schmidt NM, Becker E, Atreya I, Neurath-Finotto S, Prots I, Weigmann B, Lopez-Posadas R, Atreya R, Ekici AB, Lautenschlaeger F, Guck J, Neurath MF, Zundler S: (2023) IL-3 receptor signalling suppresses chronic intestinal inflammation by controlling mechanobiology and tissue egress of regulatory T cells J Crohns Colitis. 2023;17 Suppl 1(): I178-I181
  • Schulze LL, Becker E, Dedden M, Liu LJ, van Passen C, Mohamed-Abdou M, Müller TM, Wiendl M, Ullrich KAM, Atreya I, Leppkes M, Ekici AB, Kirchner P, Stürzl M, Sexton D, Palliser D, Atreya R, Siegmund B, TRR241 IBDome consortium , Neurath MF, Zundler S: (2023) Differential Effects of Ontamalimab Versus Vedolizumab on Immune Cell Trafficking in Intestinal Inflammation and Inflammatory Bowel Disease. J Crohns Colitis. 2023;17(11): 1817-1832
  • Enders M, Weier A, Chunder R, An Y, Bremm F, Feigenspan A, Buettner C, Ekici AB, Mingardo E, Odermatt B, Kuerten S: (2023) Impact of the Voltage-Gated Calcium Channel Antagonist Nimodipine on the Development of Oligodendrocyte Precursor Cells. Int J Mol Sci. 2023;24(4):
  • Hueffmeier U, Sticht H, Wilsmann-Theis D, Wolf K, Loehr S, Haskamp S, Frey B, Hahn M, Ekici AB, Uebe S, Thiel C, Reis A, Kingo K, Koks S, Moessner R, Prinz JC, Oji V, Schulz P, Munoz LE, Kremer AE, Wenzel J, Frey S: (2023) Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasis Exp Dermatol. 2023;32(4): E55-E55
  • Klima J, Ekici AB, Uebe S, Schmidl C, Hueffmeier U: (2023) Optimization of assay for transposase-accessible chromatin using sequencing of neutrophils Eur J Hum Genet. 2023;31 Suppl 1(): 658-658
  • Yazar V, Kühlwein JK, Knehr A, Grozdanov V, Ekici AB, Ludolph AC, Danzer KM: (2023) Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients. Sci Rep. 2023;13(1):
  • Kühlwein JK, Ruf WP, Kandler K, Witzel S, Lang C, Mulaw MA, Ekici AB, Weishaupt JH, Ludolph AC, Grozdanov V, Danzer KM: (2023) ALS is imprinted in the chromatin accessibility of blood cells. Cell Mol Life Sci. 2023;80(5):
  • Fu Z, Brooks MM, Irvin S, Jordan S, Aben KKH, Anton-Culver H, Bandera EV, Beckmann MW, Berchuck A, Brooks-Wilson A, Chang-Claude J, Cook LS, Cramer DW, Cushing-Haugen KL, Doherty JA, Ekici AB, Fasching PA, Fortner RT, Gayther SA, Gentry-Maharaj A, Giles GG, Goode EL, Goodman MT, Harris HR, Hein A, Kaaks R, Kiemeney LA, Köbel M, Kotsopoulos J, Le ND, Lee AW, Matsuo K, McGuire V, McLaughlin JR, Menon U, Milne RL, Moysich KB, Pearce CL, Pike MC, Qin B, Ramus SJ, Riggan MJ, Rothstein JH, Schildkraut JM, Sieh W, Sutphen R, Terry KL, Thompson PJ, Titus L, van Altena AM, White E, Whittemore AS, Wu AH, Zheng W, Ziogas A, Taylor SE, Tang L, Songer T, Wentzensen N, Webb PM, AOCS Group , Risch HA, Modugno F: (2023) Lifetime ovulatory years and risk of epithelial ovarian cancer: a multinational pooled analysis. J Natl Cancer Inst. 2023;115(5): 539-551
  • Schlosser P, Scherer N, Grundner-Culemann F, Monteiro-Martins S, Haug S, Steinbrenner I, Uluvar B, Wuttke M, Cheng Y, Ekici AB, Gyimesi G, Karoly ED, Kotsis F, Mielke J, Gomez MF, Yu B, Grams ME, Coresh J, Boerwinkle E, Köttgen M, Kronenberg F, Meiselbach H, Mohney RP, Akilesh S, GCKD Investigators , Schmidts M, Hediger MA, Schultheiss UT, Eckardt KU, Oefner PJ, Sekula P, Li Y, Köttgen A: (2023) Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine. Nat Genet. 2023;55(6): 995-1008
  • Morra A, Mavaddat N, Muranen TA, Ahearn TU, Allen J, Andrulis IL, Auvinen P, Becher H, Behrens S, Blomqvist C, Bojesen SE, Bolla MK, Brauch H, Camp NJ, Carvalho S, Castelao JE, Cessna MH, Chang-Claude J, Chenevix-Trench G, NBCS Collaborators , Czene K, Decker B, Dennis J, Dörk T, Dorling L, Dunning AM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Geurts-Giele WRR, Giles GG, Guénel P, Gündert M, Hahnen E, Hall P, Hamann U, Harrington PA, He W, Heikkilä P, Hooning MJ, Hoppe R, Howell A, Humphreys K, kConFab Investigators , Jakubowska A, Jung AY, Keeman R, Kristensen VN, Lubiński J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Mavroudis D, Milne RL, Mulligan AM, Newman WG, Park-Simon TW, Peterlongo P, Pharoah PDP, Rhenius V, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Spurdle AB, Tomlinson I, Truong T, van Veen EM, Vreeswijk MPG, Wang Q, Wendt C, Yang XR, Nevanlinna H, Devilee P, Easton DF, Schmidt MK, Sahlberg KK, Børresen-Dale AL, Gram IT, Olsen KS, Engebråten O, Naume B, Geisler J, Osbreac , Grenaker Alnæs GI, Amor D, Andrews L, Antill Y, Balleine R, Beesley J, Bennett I, Bogwitz M, Botes L, Brennan M, Brown M, Buckley M, Burke J, Butow P, Caldon L, Campbell I, Cao M, Chakrabarti A, Chauhan D, Chauhan M, Chenevix-Trench G, Christian A, Cohen P, Colley A, Crook A, Cui J, Courtney E, Cummings M, Dawson SJ, DeFazio A, Delatycki M, Dickson R, Dixon J, Edkins T, Edwards S, Farshid G, Fellows A, Fenton G, Field M, Flanagan J, Fong P, Forrest L, Fox S, French J, Friedlander M, Gaff C, Gattas M, George P, Greening S, Harris M, Hart S, Hayward N, Hopper J, Hoskins C, Hunt C, James P, Jenkins M, Kidd A, Kirk J, Koehler J, Kollias J, Lakhani S, Lawrence M, Lee J, Li S, Lindeman G, Lipton L, Lobb L, Loi S, Mann G, Marsh D, McLachlan SA, Meiser B, Milne R, Nightingale S, O'Connell S, O'Sullivan S, Ortega DG, Pachter N, Pang JM, Pathak G, Patterson B, Pearn A, Phillips K, Pieper E, Ramus S, Rickard E, Robinson B, Saleh M, Skandarajah A, Salisbury E, Saunders C, Saunus J, Scott R, Scott C, Sexton A, Shelling A, Simpson P, Southey M, Spurdle A, Taylor J, Taylor R, Thorne H, Trainer A, Tucker K, Visvader J, Walker L, Williams R, Winship I, Young MA, Zaheed M: (2023) The impact of coding germline variants on contralateral breast cancer risk and survival. Am J Hum Genet. 2023;110(3): 475-486
  • Mueller SH, Lai AG, Valkovskaya M, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Abu-Ful Z, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baert T, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Brenner H, Brucker SY, Buys SS, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Chung WK, Colonna SV, Cornelissen S, Couch FJ, Czene K, Daly MB, Devilee P, Dork T, Dossus L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Engel C, Evans DG, Fasching PA, Fletcher O, Flyger H, Gago-Dominguez M, Gao YT, Garcia-Closas M, Garcia-Saenz JA, Genkinger J, Gentry-Maharaj A, Grassmann F, Guenel P, Gundert M, Haeberle L, Hahnen E, Haiman CA, Hakansson N, Hall P, Harkness EF, Harrington PA, Hartikainen JM, Hartman M, Hein A, Ho WK, Hooning MJ, Hoppe R, Hopper JL, Houlston RS, Howell A, Hunter DJ, Huo D, Investigators A, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jones ME, Jung A, Kaaks R, Kang D, Khusnutdinova EK, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Kwong A, Lacey JV, Lambrechts D, Le Marchand L, Li JM, Linet M, Lo WY, Long JR, Lophatananon A, Mannermaa A, Manoochehri M, Margolin S, Matsuo K, Mavroudis D, Menon U, Muir K, Murphy RA, Nevanlinna H, Newman WG, Niederacher D, O'Brien KM, Obi N, Offit K, Olopade OI, Olshan AF, Olsson H, Park SK, Patel AV, Patel A, Perou CM, Peto J, Pharoah PDP, Plaseska-Karanfilska D, Presneau N, Rack B, Radice P, Ramachandran D, Rashid MU, Rennert G, Romero A, Ruddy KJ, Ruebner M, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneider MO, Scott C, Shah M, Sharma P, Shen CY, Shu XO, Simard J, Surowy H, Tamimi RM, Tapper WJ, Taylor JA, Teo SH, Teras LR, Toland AE, Tollenaar RAEM, Torres D, Torres-Mejia G, Troester MA, Truong T, Vachon CM, Vijai J, Weinberg CR, Wendt C, Winqvist R, Wolk A, Wu AH, Yamaji T, Yang XHR, Yu JC, Zheng W, Ziogas A, Ziv E, Dunning AM, Easton DF, Hemingway H, Hamann U, Kuchenbaecker KB, NBCS Collaborators CTS Consortium: (2023) Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry Genome Med. 2023;15(1):
  • Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, Marasa M, Zhang JY, Balderes O, Sanna-Cherchi S, Bomback AS, Canetta PA, Appel GB, Radhakrishnan J, Trimarchi H, Sprangers B, Cattran DC, Reich H, Pei Y, Ravani P, Galesic K, Maixnerova D, Tesar V, Stengel B, Metzger M, Canaud G, Maillard N, Berthoux F, Berthelot L, Pillebout E, Monteiro R, Nelson R, Wyatt RJ, Smoyer W, Mahan J, Samhar AA, Hidalgo G, Quiroga A, Weng P, Sreedharan R, Selewski D, Davis K, Kallash M, Vasylyeva TL, Rheault M, Chishti A, Ranch D, Wenderfer SE, Samsonov D, Claes DJ, Akchurin O, Goumenos D, Stangou M, Nagy J, Kovacs T, Fiaccadori E, Amoroso A, Barlassina C, Cusi D, Del Vecchio L, Battaglia GG, Bodria M, Boer E, Bono L, Boscutti G, Caridi G, Lugani F, Ghiggeri G, Coppo R, Peruzzi L, Esposito V, Esposito C, Feriozzi S, Polci R, Frasca G, Galliani M, Garozzo M, Mitrotti A, Gesualdo L, Granata S, Zaza G, Londrino F, Magistroni R, Pisani I, Magnano A, Marcantoni C, Messa P, Mignani R, Pani A, Ponticelli C, Roccatello D, Salvadori M, Salvi E, Santoro D, Gembillo G, Savoldi S, Spotti D, Zamboli P, Izzi C, Alberici F, Delbarba E, Florczak M, Krata N, Mucha K, Pączek L, Niemczyk S, Moszczuk B, Pańczyk-Tomaszewska M, Mizerska-Wasiak M, Perkowska-Ptasińska A, Bączkowska T, Durlik M, Pawlaczyk K, Sikora P, Zaniew M, Kaminska D, Krajewska M, Kuzmiuk-Glembin I, Heleniak Z, Bullo-Piontecka B, Liberek T, Dębska-Slizien A, Hryszko T, Materna-Kiryluk A, Miklaszewska M, Szczepańska M, Dyga K, Machura E, Siniewicz-Luzeńczyk K, Pawlak-Bratkowska M, Tkaczyk M, Runowski D, Kwella N, Drożdż D, Habura I, Kronenberg F, Prikhodina L, van Heel D, Fontaine B, Cotsapas C, Wijmenga C, Franke A, Annese V, Gregersen PK, Parameswaran S, Weirauch M, Kottyan L, Harley JB, Suzuki H, Narita I, Goto S, Lee H, Kim DK, Kim YS, Park JH, Cho B, Choi M, Van Wijk A, Huerta A, Ars E, Ballarin J, Lundberg S, Vogt B, Mani LY, Caliskan Y, Barratt J, Abeygunaratne T, Kalra PA, Gale DP, Panzer U, Rauen T, Floege J, Schlosser P, Ekici AB, Eckardt KU, Chen N, Xie J, Lifton RP, Loos RJF, Kenny EE, Ionita-Laza I, Köttgen A, Julian BA, Novak J, Scolari F, Zhang H, Gharavi AG: (2023) Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nat Genet. 2023;55(7): 1091-1105
  • Hirbo JB, Pasutto F, Gamazon ER, Evans P, Pawar P, Berner D, Sealock J, Tao R, Straub PS, Konkashbaev AI, Breyer MA, Schlötzer-Schrehardt U, Reis A, Brantley MA, Khor CC, Joos KM, Cox NJ: (2023) Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome. BMC Genomics. 2023;24(1):
  • Han X, Gharahkhani P, Hamel AR, Ong JS, Rentería ME, Mehta P, Dong X, Pasutto F, Hammond C, Young TL, Hysi P, Lotery AJ, Jorgenson E, Choquet H, Hauser M, Cooke Bailey JN, Nakazawa T, Akiyama M, Shiga Y, Fuller ZL, Wang X, Hewitt AW, Craig JE, Pasquale LR, Mackey DA, Wiggs JL, Khawaja AP, Segrè AV, 23andMe Research Team , International Glaucoma Genetics Consortium , MacGregor S: (2023) Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci. Nat Genet. 2023;55(7): 1116-1125
  • Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, Hülsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D: (2023) Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature. 2023;614(7948): 564-571
  • Tauber CV, Schwarz SC, Rösler TW, Arzberger T, Gentleman S, Windl O, Krumbiegel M, Reis A, Ruf VC, Herms J, Höglinger GU: (2023) Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue. Acta Neuropathol Commun. 2023;11(1):
  • Blum KL, Krumbiegel M, Kraus C, Reis A, Hüffmeier U: (2023) Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? Eur J Med Genet. 2023;66(4):
  • Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA: (2023) CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. J Clin Invest. 2023;133(10):
  • Dand N, Stuart PE, Bowes J, Ellinghaus D, Nititham J, Saklatvala JR, Teder-Laving M, Thomas LF, Traks T, Uebe S, Assmann G, Baudry D, Behrens F, Billi AC, Brown MA, Burkhardt H, Capon F, Chung R, Curtis CJ, Duckworth M, Ellinghaus E, FitzGerald O, Gerdes S, Griffiths CEM, Gulliver S, Helliwell P, Ho P, Hoffmann P, Holmen OL, Huang ZM, Hveem K, Jadon D, Köhm M, Kraus C, Lamacchia C, Lee SH, Ma F, Mahil SK, McHugh N, McManus R, Modalsli EH, Nissen MJ, Nöthen M, Oji V, Oksenberg JR, Patrick MT, Perez-White BE, Ramming A, Rech J, Rosen C, Sarkar MK, Schett G, Schmidt B, Tejasvi T, Traupe H, Voorhees JJ, Wacker EM, Warren RB, Wasikowski R, Weidinger S, Wen X, Zhang Z, BSTOP study group , Estonian Biobank research team , Barton A, Chandran V, Esko T, Foerster J, Franke A, Gladman DD, Gudjonsson JE, Gulliver W, Hüffmeier U, Kingo K, Kõks S, Liao W, Løset M, Mägi R, Nair RP, Rahman P, Reis A, Smith CH, Di Meglio P, Barker JN, Tsoi LC, Simpson MA, Elder JT: (2023) GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets. medRxiv. 2023;():
  • Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G: (2023) Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genet Med. 2023;25(11):
  • Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HT: (2023) Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv. 2023;():
  • Baur V, Stoevesandt J, Hueber A, Hüffmeier U, Kneitz H, Morbach H, Schultz E, Goebeler M: (2023) VEXAS-Syndrom, eine neu beschriebene autoinflammatorische Systemerkrankung mit dermatologischen Manifestationen. J Dtsch Dermatol Ges. 2023;21(12): 1456-1464
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