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A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.
Schuy J, Sæther KB, Lisfeld J, Ek M, Grochowski CM, Lun MY, Hastie A, Rudolph S, Fuchs S, Neveling K, Hempel M, Hoischen A, Pettersson M, Carvalho CMB, Eisfeldt J, Lindstrand A. Schuy J, et al. Genet Med Open. 2024 Jun 28;2:101863. doi: 10.1016/j.gimo.2024.101863. eCollection 2024. Genet Med Open. 2024. PMID: 39669604 Free PMC article.
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Bilgrav Saether K, Eisfeldt J, Bengtsson JD, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Ek M, Schuy J, Ameur A, Dai H; Undiagnosed Diseases Network; Hwang JP, Sedlazeck FJ, Bi W, Marom R, Wincent J, Nordgren A, Carvalho CMB, Lindstrand A. Bilgrav Saether K, et al. Among authors: schuy j. Genome Res. 2024 Nov 20;34(11):1785-1797. doi: 10.1101/gr.279346.124. Genome Res. 2024. PMID: 39486878 Free PMC article.
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
Bilgrav Saether K, Eisfeldt J, Bengtsson J, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Schuy J, Ameur A; Undiagnosed Diseases Network; Hwang JP, Sedlazeck FJ, Bi W, Marom R, Nordgren A, Carvalho CMB, Lindstrand A. Bilgrav Saether K, et al. Among authors: schuy j. medRxiv [Preprint]. 2024 Apr 24:2024.04.22.24305780. doi: 10.1101/2024.04.22.24305780. medRxiv. 2024. Update in: Genome Res. 2024 Nov 20;34(11):1785-1797. doi: 10.1101/gr.279346.124 PMID: 38712270 Free PMC article. Updated. Preprint.
LRRC45 contributes to early steps of axoneme extension.
Kurtulmus B, Yuan C, Schuy J, Neuner A, Hata S, Kalamakis G, Martin-Villalba A, Pereira G. Kurtulmus B, et al. Among authors: schuy j. J Cell Sci. 2018 Sep 20;131(18):jcs223594. doi: 10.1242/jcs.223594. J Cell Sci. 2018. PMID: 30131441