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HGG Advances|July 20, 2024
Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behaviorAndrew C Liu, Yang Shen, Carolyn R Serbinski, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|October 27, 2022
First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia BPaul Harmatz, Carlos E Prada, Barbara K Burton, et al.HGG Advances|January 20, 2022
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delayDianne Laboy Cintron, Alison M Muir, Abbey Scott, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screeningDerek Wong, Silvia Tortorelli, Lisa Bishop, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2024
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of lifeRavi Savarirayan, Melita Irving, William R Wilcox, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 18, 2024
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndromeJenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, et al.Med (New York, N.Y.)|December 31, 2024
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension studyRavi Savarirayan, Melita Irving, William R Wilcox, et al.Biomed Research International|August 12, 2024
Complete Blood Count Values Over Time in Young Children During the Dengue Virus Epidemic in the Dominican Republic From 2018 to 2020Melissa E Day, Yonairy Collado Puello, Miguel E Mejía Sang, et al.Journal of the Pediatric Infectious Diseases Society|December 20, 2022
The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic ChildrenBrittany N Simpson, Miguel E Mejía Sang, Yonairy Collado Puello, et al.Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.Pageof 11