Goldstein, Amy

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Girirajan, S., Rosenfeld, J. A., Coe, B. P., Parikh, S., Friedman, N., Goldstein, A., Filipink, R. A., McConnell, J. S., Angle, B., Meschino, W. S., et al. (2012) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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A homozygous splice variant in ATP5PO , disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Ganapathi, M., Friocourt, G., Gueguen, N., Friederich, M. W., Le Gac, G., Okur, V., Loaëc, N., Ludwig, T., Ka, C., Tanji, K., et al. (2022) · Journal of Inherited Metabolic Disease

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

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