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Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.
Colin E, Courtois G, Brouzes C, Pulman J, Rabant M, Rötig A, Taffin H, Lion-Lambert M, Fabrega S, Da Costa L, De Montalembert M, Salomon R, Hermine O, Couronné L. Colin E, et al. Among authors: pulman j. Haematologica. 2021 Dec 1;106(12):3202-3205. doi: 10.3324/haematol.2021.279138. Haematologica. 2021. PMID: 34407605 Free PMC article. No abstract available.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Among authors: pulman j. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Am J Hum Genet. 2017. PMID: 28777931 Free PMC article.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Among authors: pulman j. Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. Am J Hum Genet. 2018. PMID: 29625026 Free PMC article. No abstract available.
Direct delivery of Cas9 or base editor protein and guide RNA complex enables genome editing in the retina.
Pulman J, Botto C, Malki H, Ren D, Oudin P, De Cian A, As M, Izabelle C, Saubamea B, Forster V, Fouquet S, Robert C, Portal C, El-Amraoui A, Fisson S, Concordet JP, Dalkara D. Pulman J, et al. Mol Ther Nucleic Acids. 2024 Sep 30;35(4):102349. doi: 10.1016/j.omtn.2024.102349. eCollection 2024 Dec 10. Mol Ther Nucleic Acids. 2024. PMID: 39494148 Free PMC article.
Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.
Bromley R, Adab N, Bluett-Duncan M, Clayton-Smith J, Christensen J, Edwards K, Greenhalgh J, Hill RA, Jackson CF, Khanom S, McGinty RN, Tudur Smith C, Pulman J, Marson AG. Bromley R, et al. Among authors: pulman j. Cochrane Database Syst Rev. 2023 Aug 29;8(8):CD010224. doi: 10.1002/14651858.CD010224.pub3. Cochrane Database Syst Rev. 2023. PMID: 37647086 Free PMC article. Review.
A contiguous de novo genome assembly of sugar beet EL10 (Beta vulgaris L.).
McGrath JM, Funk A, Galewski P, Ou S, Townsend B, Davenport K, Daligault H, Johnson S, Lee J, Hastie A, Darracq A, Willems G, Barnes S, Liachko I, Sullivan S, Koren S, Phillippy A, Wang J, Liu T, Pulman J, Childs K, Shu S, Yocum A, Fermin D, Mutasa-Göttgens E, Stevanato P, Taguchi K, Naegele R, Dorn KM. McGrath JM, et al. Among authors: pulman j. DNA Res. 2023 Feb 1;30(1):dsac033. doi: 10.1093/dnares/dsac033. DNA Res. 2023. PMID: 36208288 Free PMC article.
39 results