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Page 1
Complex genomic rearrangements: an underestimated cause of rare diseases.
Trends Genet. 2022 Nov;38(11):1134-1146. doi: 10.1016/j.tig.2022.06.003. Epub 2022 Jul 9.
Trends Genet. 2022.
PMID: 35820967
Free PMC article.
Review.
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
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Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
Eisfeldt J, Schuy J, Stattin EL, Kvarnung M, Falk A, Feuk L, Lindstrand A.
Eisfeldt J, et al. Among authors: schuy j.
Int J Mol Sci. 2022 Aug 20;23(16):9392. doi: 10.3390/ijms23169392.
Int J Mol Sci. 2022.
PMID: 36012658
Free PMC article.
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Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model.
Schuy J, Eisfeldt J, Pettersson M, Shahrokhshahi N, Moslem M, Nilsson D, Dahl N, Shahsavani M, Falk A, Lindstrand A.
Schuy J, et al.
Front Genet. 2022 Feb 4;12:803683. doi: 10.3389/fgene.2021.803683. eCollection 2021.
Front Genet. 2022.
PMID: 35186010
Free PMC article.
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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.
PMID: 38712270
Free PMC article.
Preprint.
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