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Children (Basel, Switzerland)|August 26, 2023
Parental Preferences for Expanded Newborn Screening: What Are the Limits?Nicole S Y Liang, Abby Watts-Dickens, David Chitayat, et al.
NPJ Genomic Medicine|April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditionsAli AlMail, Ahmed Jamjoom, Amy Pan, et al.
NPJ Genomic Medicine|May 25, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?Leo Arkush, Kristina Karandasheva, Frédérique Ouellet, et al.
The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
American Journal of Human Genetics|March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatmentsDavid Cheerie, Margaret M Meserve, Danique Beijer, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
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