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Neurology. Genetics|March 5, 2026
Utility of Targeted RNA Analysis in Neurogenetic DisordersShoji Ichikawa, Katie Yergert, Brooklynn Gasser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Impact of laboratory-driven proactive reanalysis: Reclassification to positive in 5% of initially negative or uncertain exome sequencing casesMeghan C Towne, Jennifer Huang, Sheila Saliganan, et al.
Genetics in Medicine Open|March 9, 2026
RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencingGrace E VanNoy, Catherine Schultz, Brooklynn Gasser, et al.
BMC Genomics|July 1, 2026
Variant-specific RNA testing resolves variants of uncertain significance in exome testingAudrey K O'Neill, Grace E VanNoy, Brooklynn Gasser, et al.
Human Mutation|April 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual DisabilityAmélie Cordovado, Yvan Hérenger, Coline Cormier, et al.
Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathyKelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.
American Journal of Human Genetics|September 3, 2025
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathyKelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.
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