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Publikationen 2022

Publikations 2022

  • Schwarz H, Popp B, Airik R, Torabi N, Knaup KX, Stoeckert J, Wiech T, Amann K, Reis A, Schiffer M, Wiesener MS, Schueler M: (2022) Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation. Hum Mol Genet. 2022;31(9): 1357-1369
  • Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, 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 EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C: (2022) De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Hum Mol Genet. 2022;31(3): 440-454
  • Hetzelt KLML, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, Uebe S, Thiel CT, Kraus C, Reis A, Zweier C: (2022) Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome). Am J Med Genet A. 2022;188(1): 292-297
  • González-Alvarado MN, Aprato J, Baumeister M, Lippert M, Ekici AB, Kirchner P, Welz T, Hoffmann A, Winkler J, Wegner M, Haase S, Linker RA: (2022) Oligodendrocytes regulate the adhesion molecule ICAM-1 in neuroinflammation. Glia. 2022;70(3): 522-535
  • Becker E, Dedden M, Gall C, Wiendl M, Ekici AB, Schulz-Kuhnt A, Schweda A, Voskens C, Hegazy A, Vitali F, Atreya R, Müller TM, Atreya I, Neurath MF, Zundler S: (2022) Residual homing of α4β7-expressing β1+PI16+ regulatory T cells with potent suppressive activity correlates with exposure-efficacy of vedolizumab. Gut. 2022;71(8): 1551-1566
  • Fasching PA, Liu D, Scully S, Ingle JN, Lyra PC, Rack B, Hein A, Ekici AB, Reis A, Schneeweiss A, Tesch H, Fehm TN, Heinrich G, Beckmann MW, Ruebner M, Huebner H, Lambrechts D, Madden E, Shen J, Romm J, Doheny K, Jenkins GD, Carlson EE, Li L, Fridley BL, Cunningham JM, Janni W, Monteiro ANA, Schaid DJ, Häberle L, Weinshilboum RM, Wang L: (2022) Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer. Clin Cancer Res. 2022;28(15): 3342-3355
  • Karpf J, Unichenko P, Chalmers N, Beyer F, Wittmann MT, Schneider J, Fidan E, Reis A, Beckervordersandforth J, Brandner S, Liebner S, Falk S, Sagner A, Henneberger C, Beckervordersandforth R: (2022) Dentate gyrus astrocytes exhibit layer-specific molecular, morphological and physiological features. Nat Neurosci. 2022;25(12): 1626-1638
  • Schneider J, Weigel J, Wittmann MT, Svehla P, Ehrt S, Zheng F, Elmzzahi T, Karpf J, Paniagua-Herranz L, Basak O, Ekici A, Reis A, Alzheimer C, Ortega de la O F, Liebscher S, Beckervordersandforth R: (2022) Astrogenesis in the murine dentate gyrus is a life-long and dynamic process. EMBO J. 2022;41(11):
  • Hatami N, Büttner C, Bock F, Simfors S, Musial G, Reis A, Cursiefen C, Clahsen T: (2022) Cystathionine β-synthase as novel endogenous regulator of lymphangiogenesis via modulating VEGF receptor 2 and 3. Commun Biol. 2022;5(1):
  • Gumuslu E, Guemues E, Oz O, Ozkan M, Karaer K, Ekici A, Yildiz EP, Aydinli N, Reis A: (2022) Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders Eur J Hum Genet. 2022;30 Suppl 1(SUPPL 1): 247-247
  • Mackensen A, Müller F, Mougiakakos D, Böltz S, Wilhelm A, Aigner M, Völkl S, Simon D, Kleyer A, Munoz L, Kretschmann S, Kharboutli S, Gary R, Reimann H, Rösler W, Uderhardt S, Bang H, Herrmann M, Ekici AB, Buettner C, Habenicht KM, Winkler TH, Krönke G, Schett G: (2022) Anti-CD19 CAR T cell therapy for refractory systemic lupus erythematosus. Nat Med. 2022;28(10): 2124-2132
  • Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, Reis A, Thiel C: (2022) SRD5A3-CDG: Twins with an intragenic tandem duplication. Eur J Med Genet. 2022;65(5):
  • Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, Boese EA, Craig JE, Fingert JH, Hewitt AW, Siggs OM, Whisenhunt K, Young TL, Mackey DA, Dubowsky A, Souzeau E: (2022) Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel. Hum Mutat. 2022;43(12): 2170-2186
  • Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, Marin-Reina P, Mark PR, Martinez-Castellano F, Maystadt I, Karadurmus D, Steindl K, Wiesener A, Zweier M, Sticht H, Zweier C: (2022) Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clin Genet. 2022;102(3): 182-190
  • Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B: (2022) De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. J Med Genet. 2022;59(10): 965-975
  • Wopperer FJ, Knaup KX, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, Wenzel A, Schliep S, Schürfeld C, Seitz R, Bernhardt W, Gödel M, Wiesener A, Popp B, Stark KJ, Gröne HJ, Friedrich B, Weiß M, Basic-Jukic N, Schiffer M, Schröppel B, Huettel B, Beck BB, Genomics England Research Consortium , Sayer JA, Ziegler C, Büttner-Herold M, Amann K, Heid IM, Reis A, Pasutto F, Wiesener MS: (2022) Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney Int. 2022;102(2): 405-420
  • Köhler SA, Brandl L, Strissel PL, Gloßner L, Ekici AB, Angeloni M, Ferrazzi F, Bahlinger V, Hartmann A, Beckmann MW, Eckstein M, Strick R: (2022) Improved Bladder Tumor RNA Isolation from Archived Tissues Using Methylene Blue for Normalization, Multiplex RNA Hybridization, Sequencing and Subtyping. Int J Mol Sci. 2022;23(18):
  • Haskamp S, Frey B, Becker I, Schulz-Kuhnt A, Atreya I, Berking C, Pauli D, Ekici AB, Berges J, Mößner R, Wilsmann-Theis D, Sticherling M, Uebe S, Kirchner P, Hüffmeier U: (2022) Transcriptomes of MPO-Deficient Patients with Generalized Pustular Psoriasis Reveals Expansion of CD4+ Cytotoxic T Cells and an Involvement of the Complement System. J Invest Dermatol. 2022;142(8): 2149-2158.e10
  • Popp B, Ekici AB, Knaup KX, Schneider K, Uebe S, Park J, Bafna V, Meiselbach H, Eckardt KU, Schiffer M, Reis A, Kraus C, Wiesener M: (2022) Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study. Eur J Hum Genet. 2022;30(12): 1413-1422
  • Radtke D, Thuma N, Schülein C, Kirchner P, Ekici AB, Schober K, Voehringer D: (2022) Th2 single-cell heterogeneity and clonal distribution at distant sites in helminth-infected mice. Elife. 2022;11():
  • Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin X, Chen SH, Ferreira T, Highland HH, Ji Y, Karaderi T, Lin K, Lüll K, Malden DE, Medina-Gomez C, Machado M, Moore A, Rüeger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, Andersen MK, Ani A, Appadurai V, Arbeeva L, Bhaskar S, Bielak LF, Bollepalli S, Bonnycastle LL, Bork-Jensen J, Bradfield JP, Bradford Y, Braund PS, Brody JA, Burgdorf KS, Cade BE, Cai H, Cai Q, Campbell A, Cañadas-Garre M, Catamo E, Chai JF, Chai X, Chang LC, Chang YC, Chen CH, Chesi A, Choi SH, Chung RH, Cocca M, Concas MP, Couture C, Cuellar-Partida G, Danning R, Daw EW, Degenhard F, Delgado GE, Delitala A, Demirkan A, Deng X, Devineni P, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Ekici AB, Engmann JE, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Francescatto M, Freitag-Wolf S, Fuchsberger C, Galesloot TE, Gao Y, Gao Z, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, He J, Heard-Costa N, Hebbar P, Hindy G, Ho YA, Hofer E, Holliday E, Horn K, Hornsby WE, Hottenga JJ, Huang H, Huang J, Huerta-Chagoya A, Huffman JE, Hung YJ, Huo S, Hwang MY, Iha H, Ikeda DD, Isono M, Jackson AU, Jäger S, Jansen IE, Johansson I, Jonas JB, Jonsson A, Jørgensen T, Kalafati IP, Kanai M, Kanoni S, Kårhus LL, Kasturiratne A, Katsuya T, Kawaguchi T, Kember RL, Kentistou KA, Kim HN, Kim YJ, Kleber ME, Knol MJ, Kurbasic A, Lauzon M, Le P, Lea R, Lee JY, Leonard HL, Li SA, Li X, Li X, Liang J, Lin H, Lin SY, Liu J, Liu X, Lo KS, Long J, Lores-Motta L, Luan J, Lyssenko V, Lyytikäinen LP, Mahajan A, Mamakou V, Mangino M, Manichaikul A, Marten J, Mattheisen M, Mavarani L, McDaid AF, Meidtner K, Melendez TL, Mercader JM, Milaneschi Y, Miller JE, Millwood IY, Mishra PP, Mitchell RE, Møllehave LT, Morgan A, Mucha S, Munz M, Nakatochi M, Nelson CP, Nethander M, Nho CW, Nielsen AA, Nolte IM, Nongmaithem SS, Noordam R, Ntalla I, Nutile T, Pandit A, Christofidou P, Pärna K, Pauper M, Petersen ERB, Petersen LV, Pitkänen N, Polašek O, Poveda A, Preuss MH, Pyarajan S, Raffield LM, Rakugi H, Ramirez J, Rasheed A, Raven D, Rayner NW, Riveros C, Rohde R, Ruggiero D, Ruotsalainen SE, Ryan KA, Sabater-Lleal M, Saxena R, Scholz M, Sendamarai A, Shen B, Shi J, Shin JH, Sidore C, Sitlani CM, Slieker RC, Smit RAJ, Smith AV, Smith JA, Smyth LJ, Southam L, Steinthorsdottir V, Sun L, Takeuchi F, Tallapragada DSP, Taylor KD, Tayo BO, Tcheandjieu C, Terzikhan N, Tesolin P, Teumer A, Theusch E, Thompson DJ, Thorleifsson G, Timmers PRHJ, Trompet S, Turman C, Vaccargiu S, van der Laan SW, van der Most PJ, van Klinken JB, van Setten J, Verma SS, Verweij N, Veturi Y, Wang CA, Wang C, Wang L, Wang Z, Warren HR, Bin Wei W, Wickremasinghe AR, Wielscher M, Wiggins KL, Winsvold BS, Wong A, Wu Y, Wuttke M, Xia R, Xie T, Yamamoto K, Yang J, Yao J, Young H, Yousri NA, Yu L, Zeng L, Zhang W, Zhang X, Zhao JH, Zhao W, Zhou W, Zimmermann ME, Zoledziewska M, Adair LS, Adams HHH, Aguilar-Salinas CA, Al-Mulla F, Arnett DK, Asselbergs FW, Åsvold BO, Attia J, Banas B, Bandinelli S, Bennett DA, Bergler T, Bharadwaj D, Biino G, Bisgaard H, Boerwinkle E, Böger CA, Bønnelykke K, Boomsma DI, Børglum AD, Borja JB, Bouchard C, Bowden DW, Brandslund I, Brumpton B, Buring JE, Caulfield MJ, Chambers JC, Chandak GR, Chanock SJ, Chaturvedi N, Chen YI, Chen Z, Cheng CY, Christophersen IE, Ciullo M, Cole JW, Collins FS, Cooper RS, Cruz M, Cucca F, Cupples LA, Cutler MJ, Damrauer SM, Dantoft TM, de Borst GJ, de Groot LCPGM, De Jager PL, de Kleijn DPV, Janaka de Silva H, Dedoussis GV, den Hollander AI, Du S, Easton DF, Elders PJM, Eliassen AH, Ellinor PT, Elmståhl S, Erdmann J, Evans MK, Fatkin D, Feenstra B, Feitosa MF, Ferrucci L, Ford I, Fornage M, Franke A, Franks PW, Freedman BI, Gasparini P, Gieger C, Girotto G, Goddard ME, Golightly YM, Gonzalez-Villalpando C, Gordon-Larsen P, Grallert H, Grant SFA, Grarup N, Griffiths L, Gudnason V, Haiman C, Hakonarson H, Hansen T, Hartman CA, Hattersley AT, Hayward C, Heckbert SR, Heng CK, Hengstenberg C, Hewitt AW, Hishigaki H, Hoyng CB, Huang PL, Huang W, Hunt SC, Hveem K, Hyppönen E, Iacono WG, Ichihara S, Ikram MA, Isasi CR, Jackson RD, Jarvelin MR, Jin ZB, Jöckel KH, Joshi PK, Jousilahti P, Jukema JW, Kähönen M, Kamatani Y, Kang KD, Kaprio J, Kardia SLR, Karpe F, Kato N, Kee F, Kessler T, Khera AV, Khor CC, Kiemeney LALM, Kim BJ, Kim EK, Kim HL, Kirchhof P, Kivimaki M, Koh WP, Koistinen HA, Kolovou GD, Kooner JS, Kooperberg C, Köttgen A, Kovacs P, Kraaijeveld A, Kraft P, Krauss RM, Kumari M, Kutalik Z, Laakso M, Lange LA, Langenberg C, Launer LJ, Le Marchand L, Lee H, Lee NR, Lehtimäki T, Li H, Li L, Lieb W, Lin X, Lind L, Linneberg A, Liu CT, Liu J, Loeffler M, London B, Lubitz SA, Lye SJ, Mackey DA, Mägi R, Magnusson PKE, Marcus GM, Vidal PM, Martin NG, März W, Matsuda F, McGarrah RW, McGue M, McKnight AJ, Medland SE, Mellström D, Metspalu A, Mitchell BD, Mitchell P, Mook-Kanamori DO, Morris AD, Mucci LA, Munroe PB, Nalls MA, Nazarian S, Nelson AE, Neville MJ, Newton-Cheh C, Nielsen CS, Nöthen MM, Ohlsson C, Oldehinkel AJ, Orozco L, Pahkala K, Pajukanta P, Palmer CNA, Parra EJ, Pattaro C, Pedersen O, Pennell CE, Penninx BWJH, Perusse L, Peters A, Peyser PA, Porteous DJ, Posthuma D, Power C, Pramstaller PP, Province MA, Qi Q, Qu J, Rader DJ, Raitakari OT, Ralhan S, Rallidis LS, Rao DC, Redline S, Reilly DF, Reiner AP, Rhee SY, Ridker PM, Rienstra M, Ripatti S, Ritchie MD, Roden DM, Rosendaal FR, Rotter JI, Rudan I, Rutters F, Sabanayagam C, Saleheen D, Salomaa V, Samani NJ, Sanghera DK, Sattar N, Schmidt B, Schmidt H, Schmidt R, Schulze MB, Schunkert H, Scott LJ, Scott RJ, Sever P, Shiroma EJ, Shoemaker MB, Shu XO, Simonsick EM, Sims M, Singh JR, Singleton AB, Sinner MF, Smith JG, Snieder H, Spector TD, Stampfer MJ, Stark KJ, Strachan DP, 't Hart LM, Tabara Y, Tang H, Tardif JC, Thanaraj TA, Timpson NJ, Tönjes A, Tremblay A, Tuomi T, Tuomilehto J, Tusié-Luna MT, Uitterlinden AG, van Dam RM, van der Harst P, Van der Velde N, van Duijn CM, van Schoor NM, Vitart V, Völker U, Vollenweider P, Völzke H, Wacher-Rodarte NH, Walker M, Wang YX, Wareham NJ, Watanabe RM, Watkins H, Weir DR, Werge TM, Widen E, Wilkens LR, Willemsen G, Willett WC, Wilson JF, Wong TY, Woo JT, Wright AF, Wu JY, Xu H, Yajnik CS, Yokota M, Yuan JM, Zeggini E, Zemel BS, Zheng W, Zhu X, Zmuda JM, Zonderman AB, Zwart JA, 23andMe Research Team , VA Million Veteran Program , DiscovEHR (DiscovEHR and MyCode Community Health Initiative) , eMERGE (Electronic Medical Records and Genomics Network) , Lifelines Cohort Study , PRACTICAL Consortium , Understanding Society Scientific Group , Chasman DI, Cho YS, Heid IM, McCarthy MI, Ng MCY, O'Donnell CJ, Rivadeneira F, Thorsteinsdottir U, Sun YV, Tai ES, Boehnke M, Deloukas P, Justice AE, Lindgren CM, Loos RJF, Mohlke KL, North KE, Stefansson K, Walters RG, Winkler TW, Young KL, Loh PR, Yang J, Esko T, Assimes TL, Auton A, Abecasis GR, Willer CJ, Locke AE, Berndt SI, Lettre G, Frayling TM, Okada Y, Wood AR, Visscher PM, Hirschhorn JN, Partida GC, Sun Y, Croteau-Chonka D, Vonk JM, Chanock S, Le Marchand L: (2022) A saturated map of common genetic variants associated with human height. Nature. 2022;610(7933): 704-712
  • Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA: (2022) Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genet Med. 2022;24(10): 2065-2078
  • Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer J, Bralo MP, Tenorio-Castaño J, Lapunzina P, Almoguera B, Lopez-Grondona F, Sticht H, Zweier C: (2022) The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. Clin Genet. 2022;102(6): 517-523
  • Afonso S, Bertog M, Ilyaskin A, Buettner C, Ekici A, Korbmacher C: (2022) Early effects of aldosterone on Na+ transport and the transcriptome of cultured mouse cortical collecting duct cells (mCCDcl1) Acta Physiol (Oxf). 2022;236 Suppl 725(): 318-319
  • Kerker I, Lohr S, Uebe S, Popp B, Vasileiou G, Bowes J, Kirchner P, Becker I, Giardina E, Korendowych E, Ekici AB, Ho P, Behrens F, Kohm M, Schett G, Rech J, Assmann G, Nimeh A, Padyukov L, Alenius GM, McHugh NJ, Sticht H, Frey B, Burkhardt H, Barton A, Reis A, Hueffmeier U: (2022) Common RUNX3 missense variant contributes to psoriatic arthritis by modifying differentiation of CD8(+) T-cells Eur J Hum Genet. 2022;30 Suppl 1(SUPPL 1): 554-555
  • Clahsen T, Hatami N, Buttner C, Reis A, Cursiefen C: (2022) Tyrosinase reduces expression of vascular endothelial growth factors and improves corneal graft survival Invest Ophthalmol Vis Sci. 2022;63(7):
  • Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B: (2022) Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder. Genet Med. 2022;24(8): 1774-1780
  • Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV, Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M, Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A, University of Washington Center for Mendelian Genomics (UW-CMG) , Genomics England Research Consortium , Nickerson D, Bamshad M, Leal S, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Elgar G, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez JF, FionaMaleady-Crowe , McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Pereira MB, Perez-Gil D, Pullinger J, TahrimaRahim , Rendon A, TimRogers , Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM: (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genet Med. 2022;24(6): 1261-1273
  • Hueffmeier UD, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Them , Botti TM, Brooks C, Brooks S, Burns K, Ward I, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF, Zacher P, Abou Jamra R, Kloeckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Elloumi HZ, Reich A, Vergano SAS, Wahl E, Reis A, Zweier C, Ucla California Ctr For Rare Dis: (2022) EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Eur J Hum Genet. 2022;30 Suppl 1(SUPPL 1): 246-247
  • Rieger M, Moutton S, Verheyen S, Speicher M, Leheup B, Bonnet C, Steindl K, Boneda B, Rauch A, Krumbiegel M, Reis A, Hueffmeier U: (2022) Microdeletions at 19p13.11 in four individuals with neurodevelopmental delay Eur J Hum Genet. 2022;30 Suppl 1(SUPPL 1): 245-246
  • Schneider Y, Turan S, Koller A, Krumbiegel M, Farrell M, Plötz S, Winkler J, Xiang W: (2022) Generation of a homozygous and a heterozygous SNCA gene knockout human-induced pluripotent stem cell line by CRISPR/Cas9 mediated allele-specific tuning of SNCA expression. Stem Cell Res. 2022;65():
  • Neuser S, Brechmann B, Heimer G, Brosse 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, El Bar-Aluma B, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Tenaiji AA, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Munoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkur-Aya FS, Abou Jamra R, Ben Zeev B, Ebrahimi-Fakhari D, Popp B: (2022) Beyond founder and truncting variants in TECPR2-associated disorder Eur J Hum Genet. 2022;30 Suppl 1(SUPPL 1): 254-255
  • Zenkel M, Hoja U, Gießl A, Berner D, Hohberger B, Weller JM, König L, Hübner L, Ostermann TA, Gusek-Schneider GC, Kruse FE, Pasutto F, Schlötzer-Schrehardt U: (2022) Dysregulated Retinoic Acid Signaling in the Pathogenesis of Pseudoexfoliation Syndrome. Int J Mol Sci. 2022;23(11):
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