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Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J. Tschernoster N, et al. Among authors: beck b. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
[Genetics in nephrology - any news?].
Bartram MP, Beck BB, Müller RU. Bartram MP, et al. Among authors: beck bb. Dtsch Med Wochenschr. 2024 Nov;149(22):1361-1366. doi: 10.1055/a-2198-0363. Epub 2024 Oct 22. Dtsch Med Wochenschr. 2024. PMID: 39437829 German.
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ. Neuhaus C, et al. Among authors: beck b. Mol Genet Genomic Med. 2017 Jul 6;5(5):531-552. doi: 10.1002/mgg3.312. eCollection 2017 Sep. Mol Genet Genomic Med. 2017. PMID: 28944237 Free PMC article.
Evaluating the tolerance of harmful algal bloom communities to copper.
Hennessey AV, McDonald MB, Johnson PP, Gladfelter MF, Merrill KL, Tenison SE, Ganegoda SS, Hoang TC, Torbert HA, Beck BH, Wilson AE. Hennessey AV, et al. Among authors: beck bh. Environ Pollut. 2025 Jan 21:125691. doi: 10.1016/j.envpol.2025.125691. Online ahead of print. Environ Pollut. 2025. PMID: 39848484
Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria.
Hoppe B, Martin-Higueras C, Borghese L, Kaspar S, Reusch B, Beck BB, Walli A, Janzen E, Hegert S, Janzen N, Hohenfellner K. Hoppe B, et al. Among authors: beck bb. Kidney Int Rep. 2024 Oct 12;10(1):177-183. doi: 10.1016/j.ekir.2024.10.006. eCollection 2025 Jan. Kidney Int Rep. 2024. PMID: 39810772 Free PMC article.
1,211 results