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Nature|May 1, 1997
Neuronal release of soluble nucleotidases and their role in neurotransmitter inactivationL D Todorov, S Mihaylova-Todorova, T D Westfall, et al.Frontiers in Cellular Neuroscience|October 16, 2023
A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterizationLeping Li, Lalith Perera, Sonia A Varghese, et al.HGG Advances|April 5, 2026
Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?Tamara S Roman, Shannon Gray, Tam P Sneddon, et al.American Journal of Medical Genetics. Part A|September 11, 2025
Long-Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the ARID1B GeneTam P Sneddon, Scott A Melville, Mai Xiong, et al.Journal of Clinical and Translational Science|April 10, 2026
Expanding access to genomic analysis and reporting in research studies: The GENYSIS research coreKimberly S Foss, Tam P Sneddon, Eleanor P Fensterle, et al.Genomics|September 24, 1999
Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16qB J Loftus, U J Kim, V P Sneddon, et al.American Journal of Human Genetics|May 30, 2017
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome ResourceNatasha T Strande, Erin Rooney Riggs, Adam H Buchanan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panelsErin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, et al.Nature|January 20, 2006
DNA sequence and analysis of human chromosome 8Chad Nusbaum, Tarjei S Mikkelsen, Michael C Zody, et al.Genetics|October 6, 2025
Mondo: Integrating Disease Terminology Across CommunitiesNicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, et al.Pageof 5