McDonald, Marie T

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., et al. (2013) · The American Journal of Human Genetics

Metabolism and Genetic DisordersMitochondrial Function and Pathology

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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, H., Zhang, Q., Dai, R., Yu, B., Hoekzema, K., Tan, J., Tan, S., Jia, X., Chung, W. K., Hernan, R., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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