Wollnik, Bernd

Authors Knauer C, Haltern H, Schoger E, Kügler S, Roos L, Zelarayán LC, Hasenfuss G, Zimmermann WH, Wollnik B, Cyganek L Journal Molecular Therapy: Nucleic Acids Citation Mol Ther Nucleic Acids. 2024 Jan 23;35(1):102123. Abstract Gene variants in LZTR1 are implicated to cause Noonan syndrome associated with a severe and

Authors Kalay I, Aykut H, Caliskan Z, Yigit G, Wollnik B Journal Molecular Genetics and Metabolism Reports Citation Mol Genet Metab Rep. 2023 Nov 16;37:101022. Abstract Lysinuric protein intolerance (LPI) is a rare, inherited aminoaciduria caused by biallelic pathogenic variants in the amino acid transporter gene SLC7A7 (OMIM *603593). Individuals

Authors Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O’Connor N, Bhoj EJ, Harr MH, Lemire

Authors Hasselluhn MC, Schlösser D, Versemann L, Schmidt GE, Ulisse M, Oschwald J, Zhang Z, Hamdan F, Xiao H, Kopp W, Spitalieri J, Kellner C, Schneider C, Reutlinger K, Nagarajan S, Steuber B, Sastra SA, Palermo CF, Appelhans J, Bohnenberger H, Todorovic J, Kostyuchek I, Ströbel P, Bockelmann A, König

Authors Zibat A, Zhang X, Dickmanns A, Stegmann KM, Dobbelstein A, Alachram H, Soliwoda R, Salinas G, Groß U, Görlich D, Kschischo M, Wollnik B, Dobbelstein M Journal iScience Citation iScience. 2023 Aug 30;26(10):107786. Abstract N4-hydroxycytidine (NHC), the active compound of the drug Molnupiravir, is incorporated into SARS-CoV-2 RNA, causing

Authors Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono

Authors Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K Journal Orphanet Journal of Rare Diseases Citation Orphanet J Rare Dis. 2023 May 2;18(1):101. Abstract Background: The term congenital ocular motor

Authors Averdunk L, Al-Thihli K, Surowy H, Lüdecke HJ, Drechsler M, Yigit G, Smorag L, Hallak BA, Li Y, Altmüller J, Guthoff T, Wallot M, Nürnberg P, Wollnik B, Abou Jamra R, Al-Maawali A, Wieczorek D Journal Clinical Genetics Citation Clin Genet. 2022 Dec 28. Abstract Protein translation is an

Authors Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber MK, Wilken B, Funke R, Neuhofer CM, Altmüller J, Thiele H, Nürnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfuß S, Yigit G, Wollnik B. Journal Frontiers in Cell and Developmental Biology Citation Front Cell Dev Biol. 2022 Nov 16;10:1025332. Abstract STAG2

Authors Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G Journal Human Genetics Citation Human Genetics. preprint under review. 2022 Abstract Arthrogryposis multiplex congenita forms a broad group of