Cohen, Julie S.

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Paciorkowski, A. R., Traylor, R. N., Rosenfeld, J. A., Hoover, J. M., Harris, C. J., Winter, S., Lacassie, Y., Bialer, M., Lamb, A. N., Schultz, R. A., et al. (2013) · neurogenetics

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Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome

Zarate, Y. A., Smith‐Hicks, C. L., Greene, C., Abbott, M., Siu, V. M., Calhoun, A. R. U. L., Pandya, A., Li, C., Sellars, E. A., Kaylor, J., et al. (2018) · American Journal of Medical Genetics Part A

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., et al. (2021) · Neurology Genetics

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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

Srivastava, S., Macke, E. L., Swanson, L. C., Coulter, D., Klee, E. W., Mullegama, S. V., Xie, Y., Lanpher, B. C., Bedoukian, E. C., Skraban, C. M., et al. (2021) · Brain Sciences

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing

Neustadt, A., Owczarzak, J., Mu, W., Cohen, J. S., & Erby, L. (2020) · Journal of Genetic Counseling

Genomics and Rare DiseasesMedical and Health Sciences Research

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