Enns, Gregory M.
for the Polymicrogyria Genetics Research Network
6 papers on CoChatORCID 0000-0001-9968-0840
Most cited papers
- Verified
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
- Verified
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
Gomez-Ospina, N., Potter, C. J., Xiao, R., Manickam, K., Kim, M.-S., Kim, K. H., Shneider, B. L., Picarsic, J. L., Jacobson, T. A., Zhang, J., et al. (2016) · Nature Communications
Drug Transport and Resistance MechanismsPediatric Hepatobiliary Diseases and Treatments
Cited by 300
- Verified
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics
Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Cited by 185
- Verified
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
- Verified
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base
Camp, K. M., Krotoski, D., Parisi, M. A., Gwinn, K. A., Cohen, B. H., Cox, C. S., Enns, G. M., Falk, M. J., Goldstein, A. C., Gopal-Srivastava, R., et al. (2016) · Molecular Genetics and Metabolism
Metabolism and Genetic DisordersMitochondrial Function and Pathology
Cited by 59
- Verified
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Akula, S. K., Chen, A. Y., Neil, J. E., Shao, D. D., Mo, A., Hylton, N. K., DiTroia, S., Ganesh, V. S., Smith, R. S., O’Kane, K., et al. (2023) · JAMA Neurology
Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases
Cited by 37
Go further with a free account
Verify every reference, keep papers in a library, and ask questions across them.
Sign up - it is free