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Ataxia and spastic paraplegia in mitochondrial disease.
Synofzik M, Rugarli E, Reid E, Schüle R. Synofzik M, et al. Among authors: reid e. Handb Clin Neurol. 2023;194:79-98. doi: 10.1016/B978-0-12-821751-1.00009-9. Handb Clin Neurol. 2023. PMID: 36813322 Review.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: reid e. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.
Woods E, Holmes N, Denommé-Pichon AS, Vincent M, Belova N, Gooch C, Isidor B, Ockeloen CW, Pavlidou E, Stewart H, Verhoeven VJM, Ververi A, Dixit A, Sarkar A, Legg R, Reid E, Balasubramanian M. Woods E, et al. Among authors: reid e. Am J Med Genet A. 2025 Jun 24:e64157. doi: 10.1002/ajmg.a.64157. Online ahead of print. Am J Med Genet A. 2025. PMID: 40552904
649 results