Andrews, Ian

Rare copy number variants are an important cause of epileptic encephalopathies

Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., Eeg‐Olofsson, O., Sadleir, L. G., Gill, D., Ben‐Zeev, B., et al. (2011) · Annals of Neurology

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Petrovski, S., Küry, S., Myers, C. T., Anyane-Yeboa, K., Cogné, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., et al. (2016) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 114

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Palmer, E. E., Schofield, D., Shrestha, R., Kandula, T., Macintosh, R., Lawson, J. A., Andrews, I., Sampaio, H., Johnson, A. M., Farrar, M. A., et al. (2018) · Molecular Genetics & Genomic Medicine

Genomics and Rare DiseasesEpilepsy research and treatment

Cited by 113