Sims, Katherine B.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

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Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial medicine society

Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., Anselm, I., Cohen, B. H., Falk, M. J., Greene, C., et al. (2015) · Genetics in Medicine

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 607

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 577

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Smith, K. R., Damiano, J., Franceschetti, S., Carpenter, S., Canafoglia, L., Morbin, M., Rossi, G., Pareyson, D., Mole, S. E., Staropoli, J. F., et al. (2012) · The American Journal of Human Genetics

Amyotrophic Lateral Sclerosis ResearchLysosomal Storage Disorders Research

Cited by 489

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., et al. (2013) · Human Molecular Genetics

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 130

Powering the Immune System: Mitochondria in Immune Function and Deficiency

Walker, M. A., Volpi, S., Sims, K. B., Walter, J. E., & Traggiai, E. (2014) · Journal of Immunology Research

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 83