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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: altmuller j. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA.
Erger F, Nörling D, Borchert D, Leenen E, Habbig S, Wiesener MS, Bartram MP, Wenzel A, Becker C, Toliat MR, Nürnberg P, Beck BB, Altmüller J. Erger F, et al. Among authors: altmuller j. Genome Med. 2020 Jun 24;12(1):54. doi: 10.1186/s13073-020-00750-5. Genome Med. 2020. PMID: 32580754 Free PMC article.
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing.
Tschernoster N, Erger F, Walsh PR, McNicholas B, Fistrek M, Habbig S, Schumacher AL, Folz-Donahue K, Kukat C, Toliat MR, Becker C, Thiele H, Kavanagh D, Nürnberg P, Beck BB, Altmüller J. Tschernoster N, et al. Among authors: altmuller j. J Mol Diagn. 2022 Jun;24(6):619-631. doi: 10.1016/j.jmoldx.2022.02.006. Epub 2022 Apr 8. J Mol Diagn. 2022. PMID: 35398599 Free article.
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M. Laghmani K, et al. Among authors: altmuller j. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27. N Engl J Med. 2016. PMID: 27120771 Free article.
MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
Reusch B, Bartram MP, Dafinger C, Palacio-Escat N, Wenzel A, Fenton RA, Saez-Rodriguez J, Schermer B, Benzing T, Altmüller J, Beck BB, Rinschen MM. Reusch B, et al. Among authors: altmuller j. J Proteomics. 2022 Feb 10;252:104424. doi: 10.1016/j.jprot.2021.104424. Epub 2021 Nov 12. J Proteomics. 2022. PMID: 34775100
Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis.
Leenen E, Erger F, Altmüller J, Wenzel A, Thiele H, Harth A, Tschernoster N, Lokhande S, Joerres A, Becker JU, Ekici A, Huettel B, Beck B, Weidemann A. Leenen E, et al. Among authors: altmuller j. Nephrol Dial Transplant. 2022 Sep 22;37(10):1895-1905. doi: 10.1093/ndt/gfac163. Nephrol Dial Transplant. 2022. PMID: 35485766
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nürnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C. Borck G, et al. Among authors: altmuller j. Genome Res. 2015 Feb;25(2):155-66. doi: 10.1101/gr.176925.114. Epub 2015 Jan 5. Genome Res. 2015. PMID: 25561519 Free PMC article.
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G. Spielmann M, et al. Among authors: altmuller j. Genome Res. 2016 Feb;26(2):183-91. doi: 10.1101/gr.199430.115. Epub 2016 Jan 11. Genome Res. 2016. PMID: 26755636 Free PMC article.
361 results