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Nature|November 9, 2010
Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2Myunggon Ko, Yun Huang, Anna M Jankowska, et al.
Annals of Neurology|May 24, 2020
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic CorrelationsCesar A P F Alves, Sara R Teixeira, Juan S Martin-Saavedra, et al.
Molecular Genetics and Metabolism|August 24, 2020
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathwayBrian J Shayota, Taraka R Donti, Jing Xiao, et al.
American Journal of Human Genetics|April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings listJennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.
AJNR. American Journal of Neuroradiology|April 10, 2025
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric PatientsCesar A P F Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|September 18, 2023
Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of LifeDonna DiVito, Amanda Wellik, Jessica Burfield, et al.
JCSM Clinical Reports|January 24, 2022
Development of a Mitochondrial Myopathy-Composite Assessment ToolJean Flickinger, Jiaxin Fan, Amanda Wellik, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new casesTara L Wenger, Margaret Harr, Stefania Ricciardi, et al.
JAMA Network Open|May 8, 2023
Perspectives of Rare Disease Experts on Newborn Genome SequencingNina B Gold, Sophia M Adelson, Nidhi Shah, et al.
Pediatrics|June 1, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics CareKatherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, et al.
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