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724 results

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Page 1
Long-read sequencing for fast and robust identification of correct genome-edited alleles: PCR-based and Cas9 capture methods.
McCabe CV, Price PD, Codner GF, Allan AJ, Caulder A, Christou S, Loeffler J, Mackenzie M, Malzer E, Mianné J, Nowicki KJ, O'Neill EJ, Pike FJ, Hutchison M, Petit-Demoulière B, Stewart ME, Gates H, Wells S, Sanderson ND, Teboul L. McCabe CV, et al. Among authors: mackenzie m. PLoS Genet. 2024 Mar 8;20(3):e1011187. doi: 10.1371/journal.pgen.1011187. eCollection 2024 Mar. PLoS Genet. 2024. PMID: 38457464 Free PMC article.
Application of long single-stranded DNA donors in genome editing: generation and validation of mouse mutants.
Codner GF, Mianné J, Caulder A, Loeffler J, Fell R, King R, Allan AJ, Mackenzie M, Pike FJ, McCabe CV, Christou S, Joynson S, Hutchison M, Stewart ME, Kumar S, Simon MM, Agius L, Anstee QM, Volynski KE, Kullmann DM, Wells S, Teboul L. Codner GF, et al. Among authors: mackenzie m. BMC Biol. 2018 Jun 21;16(1):70. doi: 10.1186/s12915-018-0530-7. BMC Biol. 2018. PMID: 29925374 Free PMC article.
Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6.
Jones E, Hill E, Linehan J, Nazari T, Caulder A, Codner GF, Hutchison M, Mackenzie M, Farmer M, Coysh T, De Oliveira MW, Al-Doujaily H, Sandberg M, Viré E, Cunningham TJ, Asante EA, Brandner S, Collinge J, Mead S. Jones E, et al. Among authors: mackenzie m. Neurobiol Dis. 2024 Jan;190:106363. doi: 10.1016/j.nbd.2023.106363. Epub 2023 Nov 22. Neurobiol Dis. 2024. PMID: 37996040 Free PMC article.
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Spielmann N, Miller G, Oprea TI, Hsu CW, Fobo G, Frishman G, Montrone C, Haseli Mashhadi H, Mason J, Munoz Fuentes V, Leuchtenberger S, Ruepp A, Wagner M, Westphal DS, Wolf C, Görlach A, Sanz-Moreno A, Cho YL, Teperino R, Brandmaier S, Sharma S, Galter IR, Östereicher MA, Zapf L, Mayer-Kuckuk P, Rozman J, Teboul L, Bunton-Stasyshyn RKA, Cater H, Stewart M, Christou S, Westerberg H, Willett AM, Wotton JM, Roper WB, Christiansen AE, Ward CS, Heaney JD, Reynolds CL, Prochazka J, Bower L, Clary D, Selloum M, Bou About G, Wendling O, Jacobs H, Leblanc S, Meziane H, Sorg T, Audain E, Gilly A, Rayner NW; IMPC consortium; Genomics England Research Consortium; Hitz MP, Zeggini E, Wolf E, Sedlacek R, Murray SA, Svenson KL, Braun RE, White JK, Kelsey L, Gao X, Shiroishi T, Xu Y, Seong JK, Mammano F, Tocchini-Valentini GP, Beaudet AL, Meehan TF, Parkinson H, Smedley D, Mallon AM, Wells SE, Grallert H, Wurst W, Marschall S, Fuchs H, Brown SDM, Flenniken AM, Nutter LMJ, McKerlie C, Herault Y, Lloyd KCK, Dickinson ME, Gailus-Durner V, Hrabe de Angelis M. Spielmann N, et al. Nat Cardiovasc Res. 2022 Feb;1(2):157-173. doi: 10.1038/s44161-022-00018-8. Epub 2022 Feb 17. Nat Cardiovasc Res. 2022. PMID: 39195995 Free PMC article.
Impact of essential genes on the success of genome editing experiments generating 3313 new genetically engineered mouse lines.
Elrick H, Peterson KA, Willis BJ, Lanza DG, Acar EF, Ryder EJ, Teboul L, Kasparek P, Birling MC, Adams DJ, Bradley A, Braun RE, Brown SD, Caulder A, Codner GF, DeMayo FJ, Dickinson ME, Doe B, Duddy G, Gertsenstein M, Goodwin LO, Hérault Y, Lintott LG, Lloyd KCK, Lorenzo I, Mackenzie M, Mallon AM, McKerlie C, Parkinson H, Ramirez-Solis R, Seavitt JR, Sedlacek R, Skarnes WC, Smedley D, Wells S, White JK, Wood JA; International Mouse Phenotyping Consortium; Murray SA, Heaney JD, Nutter LMJ. Elrick H, et al. Among authors: mackenzie m. Sci Rep. 2024 Sep 30;14(1):22626. doi: 10.1038/s41598-024-72418-8. Sci Rep. 2024. PMID: 39349521 Free PMC article.
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
Cicek D, Warr N, Yesil G, Kocak Eker H, Bas F, Poyrazoglu S, Darendeliler F, Direk G, Hatipoglu N, Eltan M, Yavas Abali Z, Gurpinar Tosun B, Kaygusuz SB, Seven Menevse T, Helvacioglu D, Turan S, Bereket A, Reeves R, Simon M, Mackenzie M, Teboul L, Greenfield A, Guran T. Cicek D, et al. Among authors: mackenzie m. Eur J Endocrinol. 2021 Dec 1;186(1):65-72. doi: 10.1530/EJE-21-0910. Eur J Endocrinol. 2021. PMID: 34714774 Free PMC article.
Ultrasensitive ctDNA detection for preoperative disease stratification in early-stage lung adenocarcinoma.
Black JRM, Bartha G, Abbott CW, Boyle SM, Karasaki T, Li B, Chen R, Harris J, Veeriah S, Colopi M, Bakir MA, Liu WK, Lyle J, Navarro FCP, Northcott J, Pyke RM, Hill MS, Thol K, Huebner A, Bailey C, Colliver EC, Martínez-Ruiz C, Grigoriadis K, Pawlik P, Moore DA, Marinelli D, Shutkever OG, Murphy C, Sivakumar M; TRACERx consortium; Shaw JA, Hackshaw A, McGranahan N, Jamal-Hanjani M, Frankell AM, Chen RO, Swanton C. Black JRM, et al. Nat Med. 2025 Jan 13. doi: 10.1038/s41591-024-03216-y. Online ahead of print. Nat Med. 2025. PMID: 39806071
Prospective validation of ORACLE, a clonal expression biomarker associated with survival of patients with lung adenocarcinoma.
Biswas D, Liu YH, Herrero J, Wu Y, Moore DA, Karasaki T, Grigoriadis K, Lu WT, Veeriah S, Naceur-Lombardelli C, Magno N, Ward S, Frankell AM, Hill MS, Colliver E, de Carné Trécesson S, East P, Malhi A, Snell DM, O'Neill O, Leonce D, Mattsson J, Lindberg A, Micke P, Moldvay J, Megyesfalvi Z, Dome B, Fillinger J, Nicod J, Downward J, Szallasi Z; TRACERx Consortium; Hackshaw A, Jamal-Hanjani M, Kanu N, Birkbak NJ, Swanton C. Biswas D, et al. Nat Cancer. 2025 Jan 9. doi: 10.1038/s43018-024-00883-1. Online ahead of print. Nat Cancer. 2025. PMID: 39789179
724 results