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A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T, Francis RW, Weeks A, Tang D, Jamieson SE, Broley S, Dawkins HJS, Dreyer L, Goldblatt J, Groza T, Kamien B, Kiraly-Borri C, McKenzie F, Murphy L, Pachter N, Pathak G, Poulton C, Samanek A, Skoss R, Slee J, Townshend S, Ward M, Baynam GS, Blackwell JM. Lassmann T, et al. Among authors: murphy l. NPJ Genom Med. 2020 Dec 10;5(1):54. doi: 10.1038/s41525-020-00161-w. NPJ Genom Med. 2020. PMID: 33303739 Free PMC article.
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Walker CE, Molster C, Blackwell JM, Jamieson S, Tang D, Lassmann T, Mina K, Beilby J, Davis M, Laing N, Murphy L, Weeramanthri T, Dawkins H, Goldblatt J. Baynam G, et al. Among authors: murphy l. Orphanet J Rare Dis. 2016 Jun 11;11(1):77. doi: 10.1186/s13023-016-0462-7. Orphanet J Rare Dis. 2016. PMID: 27287197 Free PMC article.
Genomic insights into the critically endangered King Island scrubtit.
Crates R, von Takach B, Young CM, Stojanovic D, Neaves L, Murphy L, Gautschi D, Hogg CJ, Heinsohn R, Bell P, Farquharson KA. Crates R, et al. Among authors: murphy l. J Hered. 2024 May 30:esae029. doi: 10.1093/jhered/esae029. Online ahead of print. J Hered. 2024. PMID: 38814752
Ciliary tip actin dynamics regulate photoreceptor outer segment integrity.
Megaw R, Moye A, Zhang Z, Newton F, McPhie F, Murphy LC, McKie L, He F, Jungnickel MK, von Kriegsheim A, Tennant PA, Brotherton C, Gurniak C, Gross AK, Machesky LM, Wensel TG, Mill P. Megaw R, et al. Among authors: murphy lc. Nat Commun. 2024 May 21;15(1):4316. doi: 10.1038/s41467-024-48639-w. Nat Commun. 2024. PMID: 38773095 Free PMC article.
Epigenetic mechanisms of osteoarthritis risk in human skeletal development.
McDonnell E, Orr SE, Barter MJ, Rux D, Brumwell A, Wrobel N, Murphy L, Overmann LM, Sorial AK, Young DA, Soul J, Rice SJ. McDonnell E, et al. Among authors: murphy l. medRxiv [Preprint]. 2024 May 6:2024.05.05.24306832. doi: 10.1101/2024.05.05.24306832. medRxiv. 2024. PMID: 38766055 Free PMC article. Preprint.
1,996 results