Hanchard, Neil A.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 143

Tumor necrosis factor SNP haplotypes are associated with iron deficiency anemia in West African children

Atkinson, S. H., Rockett, K. A., Morgan, G., Bejon, P. A., Sirugo, G., O'Connell, M. A., Hanchard, N., Kwiatkowski, D. P., & Prentice, A. M. (2008) · Blood

Iron Metabolism and DisordersMalaria Research and Control

Cited by 43

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency

Sadat, R., Barca, E., Masand, R., Donti, T. R., Naini, A., De Vivo, D. C., DiMauro, S., Hanchard, N. A., & Graham, B. H. (2016) · Molecular Genetics and Metabolism

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 38

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27