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Lessons learnt from prenatal exome sequencing.
Chandler NJ, Scotchman E, Mellis R, Ramachandran V, Roberts R, Chitty LS. Chandler NJ, et al. Among authors: scotchman e. Prenat Diagn. 2022 Jun;42(7):831-844. doi: 10.1002/pd.6165. Epub 2022 May 7. Prenat Diagn. 2022. PMID: 35506549 Free PMC article.
Non-invasive prenatal diagnosis and screening for monogenic disorders.
Scotchman E, Shaw J, Paternoster B, Chandler N, Chitty LS. Scotchman E, et al. Eur J Obstet Gynecol Reprod Biol. 2020 Oct;253:320-327. doi: 10.1016/j.ejogrb.2020.08.001. Epub 2020 Aug 7. Eur J Obstet Gynecol Reprod Biol. 2020. PMID: 32907778 Review.
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
Macken WL, Falabella M, Pizzamiglio C, Woodward CE, Scotchman E, Chitty LS, Polke JM, Bugiardini E, Hanna MG, Vandrovcova J, Chandler N, Labrum R, Pitceathly RDS. Macken WL, et al. Among authors: scotchman e. Expert Rev Mol Diagn. 2023 Jul-Dec;23(9):797-814. doi: 10.1080/14737159.2023.2241365. Epub 2023 Aug 29. Expert Rev Mol Diagn. 2023. PMID: 37642407 Review.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Among authors: scotchman e. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
11 results