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Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ. Abdel-Salam GMH, et al. Among authors: kaseberg s. JCI Insight. 2023 Nov 22;8(22):e170079. doi: 10.1172/jci.insight.170079. JCI Insight. 2023. PMID: 37796616 Free PMC article.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: kaseberg s. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.