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Frontiers in Genetics|December 19, 2025
Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check programAngela Y Gwaltney, Sean N Halpin, Samantha Scott, et al.Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|November 29, 2020
Preferences for Accessing Electronic Health Records for Research Purposes: Views of Parents Who Have a Child With a Known or Suspected Genetic ConditionMelissa Raspa, Ryan S Paquin, Derek S Brown, et al.Journal of Neurodevelopmental Disorders|February 9, 2016
Mavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension studyDonald B Bailey, Elizabeth Berry-Kravis, Anne Wheeler, et al.Journal of Autism and Developmental Disorders|March 4, 2024
Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)Melissa Raspa, Angela Gwaltney, Carla Bann, et al.Pediatrics|April 29, 2021
Emergence of Developmental Delay in Infants and Toddlers With an FMR1 MutationAnne C Wheeler, Angela Gwaltney, Melissa Raspa, et al.Clinical and Translational Science|December 31, 2020
Outreach to new mothers through direct mail and email: recruitment in the Early Check research studyRyan S Paquin, Megan A Lewis, Blake A Harper, et al.American Journal on Intellectual and Developmental Disabilities|November 19, 2020
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical TrialsMelissa Raspa, Carla M Bann, Angela Gwaltney, et al.Journal of Medical Genetics|June 14, 2022
The International Fragile X Premutation Registry: building a resource for research and clinical trial readinessDavid Hessl, Hilary Rosselot, Robert Miller, et al.International Journal of Neonatal Screening|April 3, 2021
A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early CheckKaterina S Kucera, Jennifer L Taylor, Veronica R Robles, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2026
A North Carolina Newborn Screening Pilot for Mucopolysaccharidosis II: Evaluating Endogenous Non-Reducing End Glycosaminoglycan Analysis and IDS Sequencing as Higher-Tier Testing OptionsKaterina S Kucera, Kristin Clinard, Samantha L Blake, et al.Pageof 7