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Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: saunders c. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
Flanigan KM, Dunn DM, von Niederhausern A, Howard MT, Mendell J, Connolly A, Saunders C, Modrcin A, Dasouki M, Comi GP, Del Bo R, Pickart A, Jacobson R, Finkel R, Medne L, Weiss RB. Flanigan KM, et al. Among authors: saunders c. Neuromuscul Disord. 2009 Nov;19(11):743-8. doi: 10.1016/j.nmd.2009.08.010. Epub 2009 Sep 29. Neuromuscul Disord. 2009. PMID: 19793655 Free PMC article.
StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data.
Holt JM, Harting J, Chen X, Baker D, Saunders CT, Kronenberg Z, Gonzaludo N, Yoo B, Hudjashov G, Joeloo M, Lawlor JMJ, Lim WK; Estonian Biobank Research Team; Jamuar SS, Cooper GM, Milani L, Pastinen T, Eberle MA. Holt JM, et al. Among authors: saunders ct. bioRxiv [Preprint]. 2024 Dec 11:2024.12.10.627527. doi: 10.1101/2024.12.10.627527. bioRxiv. 2024. PMID: 39713404 Free PMC article. Preprint.
Non-invasive in vivo sensing of bacterial implant infection using catalytically-optimised gold nanocluster-loaded liposomes for urinary readout.
Chen K, Najer A, Charchar P, Saunders C, Thanapongpibul C, Klöckner A, Chami M, Peeler DJ, Silva I, Panariello L, Karu K, Loynachan CN, Frenette LC, Potter M, Tregoning JS, Parkin IP, Edwards AM, Clarke TB, Yarovsky I, Stevens MM. Chen K, et al. Among authors: saunders c. Nat Commun. 2024 Nov 28;15(1):10321. doi: 10.1038/s41467-024-53537-2. Nat Commun. 2024. PMID: 39609415 Free PMC article.
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.
Le C, Argilli E, George E, Kalayci T, Uyguner ZO, Karaman B, Demiroren T, Heron D, Sabatier I, Rodan LH, Girisha KM, Radhakrishnan P, Saunders C, Sullivan B, Fleming E, Alvi JR, Sultan T, Houlden H, Efthymiou S, Guillen Sacoto MJ, Goodman M, Sherr EH. Le C, et al. Among authors: saunders c. medRxiv [Preprint]. 2024 Dec 17:2024.10.11.24312856. doi: 10.1101/2024.10.11.24312856. medRxiv. 2024. PMID: 39502664 Free PMC article. Preprint.
Engineering immunogens that select for specific mutations in HIV broadly neutralizing antibodies.
Henderson R, Anasti K, Manne K, Stalls V, Saunders C, Bililign Y, Williams A, Bubphamala P, Montani M, Kachhap S, Li J, Jaing C, Newman A, Cain DW, Lu X, Venkatayogi S, Berry M, Wagh K, Korber B, Saunders KO, Tian M, Alt F, Wiehe K, Acharya P, Alam SM, Haynes BF. Henderson R, et al. Among authors: saunders c. Nat Commun. 2024 Nov 3;15(1):9503. doi: 10.1038/s41467-024-53120-9. Nat Commun. 2024. PMID: 39489734 Free PMC article.
1,395 results