Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency by Mayowa A. Osundiji, Alicia Chen, Joseph D. Farris, Radhika Dhamija

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Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (... by Rahaman Navaz Gangji, Qais Abu Ali, Radhika Dhamija, Andrés Morales Corado, Sandhya Kharbanda

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Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation by Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W. Klee, Pavel Pichurin

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P232: Diagnostic yield of genome sequencing after non-diagnostic exome sequencing: A retrospective review of 118 cases at a single institution by Kara Eckberg, Hala Deeb, Tori Winter, Zachary Haugstad, Joseph Farris, Joan Steyermark, Filippo Pinto e Vairo, Brendan Lanpher, Radhika Dhamija

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Heterozygosity in NPC may be associated with neurologic and systemic phenotypes by Tatiana Brémovà-Ertl, Sabina Tahirovic, Silva Katušić Hećimović, Kyriakos Martakis, Kyriakos Martakis, Marianne Rohrbach, Matthias Gautschi, Radhika Dhamija, Jaya Ganesh, Melinda Peters, Mark Walterfang, Susanne A. Schneider

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P317: Clinical practice guidelines for the diagnosis, management, and surveillance of people with LMNB1 related autosomal dominant leukodystrophy: A consensus-based approach by Radhika Dhamija, W. Oliver Tobin, Pierto Cortelli, Quasar Padiath, Karthik Muthusamy, Ujjal Didar Singh Sekhon, Bishen Singh, Dan Harris, Heather Billings, Holly Appleberry, Keti Mamillo, Elisa Giorgio, Brent Fogel, Ralitza Gavrilova, Raili Rainiko, Margot Cousin

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