Joseph C Watkins

  • 784 Citations
  • 14 h-Index
1985 …2018
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Research Output 1985 2018

  • 784 Citations
  • 14 h-Index
  • 36 Article

Modeling SNP array ascertainment with Approximate Bayesian Computation for demographic inference

Quinto-Cortés, C. D., Woerner, A. E., Watkins, J. C. & Hammer, M. F., Dec 1 2018, In : Scientific Reports. 8, 1, 10209

Research output: Contribution to journalArticle

Nucleotides
Polymorphism
Pipelines
Genes
Statistics
9 Citations

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

Ishii, A., Kang, J. Q., Schornak, C. C., Hernandez, C. C., Shen, W., Watkins, J. C., Macdonald, R. L. & Hirose, S., Mar 1 2017, In : Journal of Medical Genetics. 54, 3

Research output: Contribution to journalArticle

Missense Mutation
GABA-A Receptors
Mutation
Epilepsy
Genes
9 Citations

Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome

Ishii, A., Watkins, J. C., Chen, D., Hirose, S. & Hammer, M. F., Feb 1 2017, In : Epilepsia. 58, 2, p. 282-290 9 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Age of Onset
Exons
Epilepsy
Seizures
1 Citations

Exome Sequencing Provides Evidence of Polygenic Adaptation to a Fat-Rich Animal Diet in Indigenous Siberian Populations

Hsieh, P. H., Hallmark, B., Watkins, J., Karafet, T. M., Osipova, L. P., Gutenkunst, R. N. & Hammer, M. F., Nov 1 2017, In : Molecular Biology and Evolution. 34, 11, p. 2913-2926 14 p.

Research output: Contribution to journalArticle

Siberia
Exome
indigenous population
Population Groups
fat
1 Citations

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

Hammer, M. F., Ishii, A., Johnstone, L., Tchourbanov, A., Lau, B., Sprissler, R., Hallmark, B., Zhang, M., Zhou, J., Watkins, J. & Hirose, S., Jul 1 2017, In : PLoS One. 12, 7, e0180485

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Genes
genes
mutation
Mutation