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Journal of Genetic Counseling|January 10, 2024
Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain communityCarly Eichten, Ashley Kuhl, Mei Baker, et al.
Neuroscience Letters|August 10, 2005
Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotypeJennifer M Kwon, Paul G Rothberg, Adam R Leman, et al.
Pediatric Dermatology|December 29, 2025
KRAS Footprints in the Skin: Leveraging Targeted Therapy for Unresectable Intra-Cerebral AVMDonglin Zhang, Jennifer M Kwon, Beverly Aagaard-Kienitz, et al.
Muscle & Nerve|July 1, 2021
Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophyElizabeth A Kichula, Crystal M Proud, Michelle A Farrar, et al.
Advances in Therapy|February 20, 2026
Summary of Research: Risdiplam Treatment Following Onasemnogene Abeparvovec in Individuals with Spinal Muscular Atrophy: A Multicenter Case SeriesMelissa D Svoboda, Nancy Kuntz, Carmen Leon-Astudillo, et al.
BMC Neurology|July 7, 2025
Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case seriesMelissa D Svoboda, Nancy Kuntz, Carmen Leon-Astudillo, et al.
International Journal of Neonatal Screening|March 27, 2026
Trends in the Timeliness of Spinal Muscular Atrophy Detection in US Infants, 2016-2023Scott D Grosse, Kai Hong, Golriz K Yazdanpanah, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|June 12, 2020
New Medications Are Needed for Children With Juvenile Idiopathic ArthritisHermine I Brunner, Laura E Schanberg, Yukiko Kimura, et al.
JAMA Neurology|November 24, 2015
Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A ReviewMichele A Gatheridge, Jennifer M Kwon, Jerry M Mendell, et al.
Molecular Genetics and Metabolism|November 20, 2013
Experience, knowledge, and opinions about childhood genetic testing in Batten diseaseHeather R Adams, Katherine Rose, Erika F Augustine, et al.
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