Thurm, Audrey

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27

Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

Tierney, E., Remaley, A. T., Thurm, A., Jager, L. R., Wassif, C. A., Kratz, L. E., Bailey-Wilson, J. E., Bukelis, I., Sarphare, G., Jung, E. S., et al. (2021) · Translational Psychiatry

Autism Spectrum Disorder ResearchLipoproteins and Cardiovascular Health

Cited by 26

Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome

Srivastava, S., Scherrer, B., Prohl, A. K., Filip-Dhima, R., Kapur, K., Kolevzon, A., Buxbaum, J. D., Berry-Kravis, E., Soorya, L., Thurm, A., et al. (2019) · Pediatric Neurology

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 23

NIH Toolbox Cognition Battery Feasibility in Individuals With Williams Syndrome

Condy, E. E., Becker, L., Farmer, C., Kaat, A. J., Chlebowski, C., Kozel, B. A., & Thurm, A. (2022) · American Journal on Intellectual and Developmental Disabilities

Williams Syndrome ResearchCognitive Abilities and Testing

Cited by 6