Demmer, Laurie A.

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., Miller, K. J., Frazier, J. A., Silverstein, I., Picker, J., et al. (2010) · Pediatrics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., et al. (2010) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

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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

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

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Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Wagner, M., Skorobogatko, Y., Pode-Shakked, B., Powell, C. M., Alhaddad, B., Seibt, A., Barel, O., Heimer, G., Hoffmann, C., Demmer, L. A., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersProtein Kinase Regulation and GTPase Signaling

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