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A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.
Whitford W, Taylor J, Hayes I, Smith W, Snell RG, Lehnert K, Jacobsen JC. Whitford W, et al. Among authors: snell rg. Mol Genet Genomic Med. 2024 Jan;12(1):e2350. doi: 10.1002/mgg3.2350. Epub 2023 Dec 26. Mol Genet Genomic Med. 2024. PMID: 38146907 Free PMC article.
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.
Poquérusse J, Nolan M, Thorburn DR, Van Hove JLK, Friederich MW, Love DR, Taylor J, Powell CA, Minczuk M, Snell RG, Lehnert K, Glamuzina E, Jacobsen JC. Poquérusse J, et al. Among authors: snell rg. JIMD Rep. 2023 Jan 22;64(3):223-232. doi: 10.1002/jmd2.12360. eCollection 2023 May. JIMD Rep. 2023. PMID: 37151360 Free PMC article.
Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's Disease.
Handley RR, Reid SJ, Burch Z, Jacobsen JC, Gillis T, Correia K, Rudiger SR, McLaughlin CJ, Bawden CS, MacDonald ME, Wheeler VC, Snell RG. Handley RR, et al. Among authors: snell rg. J Huntingtons Dis. 2024;13(1):33-40. doi: 10.3233/JHD-231516. J Huntingtons Dis. 2024. PMID: 38393920 Free PMC article.
A common regulatory haplotype doubles lactoferrin concentration in milk.
Lopdell TJ, Trevarton AJ, Moody J, Prowse-Wilkins C, Knowles S, Tiplady K, Chamberlain AJ, Goddard ME, Spelman RJ, Lehnert K, Snell RG, Davis SR, Littlejohn MD. Lopdell TJ, et al. Among authors: snell rg. Genet Sel Evol. 2024 Mar 28;56(1):22. doi: 10.1186/s12711-024-00890-x. Genet Sel Evol. 2024. PMID: 38549172 Free article.
Development of SpCas9-expressing bovine mammary epithelial cell lines.
Trevarton AJ, Mears ER, Moody J, Lopdell TJ, Chometon TQ, Taylor JA, Wang CJ, Littlejohn MD, Snell RG. Trevarton AJ, et al. Among authors: snell rg. In Vitro Cell Dev Biol Anim. 2023 Mar;59(3):163-165. doi: 10.1007/s11626-023-00756-4. Epub 2023 Mar 17. In Vitro Cell Dev Biol Anim. 2023. PMID: 36930414 No abstract available.
120 results