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Neurology. Genetics|April 12, 2016
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGSXia Tian, Wen-Chen Liang, Yanming Feng, et al.
Human Mutation|March 7, 2013
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defectsSha Tang, Jing Wang, Victor Wei Zhang, et al.
Molecular Genetics and Metabolism|September 20, 2015
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United StatesMarcus J Miller, Lindsay C Burrage, James B Gibson, et al.
Molecular Genetics and Metabolism|August 13, 2013
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) geneSirisak Chanprasert, Jing Wang, Shao-Wen Weng, et al.
American Journal of Human Genetics|August 21, 2018
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial DysmorphismYanjie Fan, Wu Yin, Bing Hu, et al.
Scientific Reports|March 15, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysisTeng-Hui Wu, Jing Peng, Li Yang, et al.
The Journal of Allergy and Clinical Immunology|August 4, 2016
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencingHui Yu, Victor Wei Zhang, Asbjørg Stray-Pedersen, et al.
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