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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 6, 2025
Tandem splice acceptor sites: Profiling their relevance to human diseaseFrederick G Frost, Shaopeng Gu, Adrienne Elbert, et al.FEBS Letters|December 31, 2024
Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse modelDawn M Maynard, Bernadette R Gochuico, Hadass Pri Chen, et al.Human Mutation|January 4, 2020
Hermansky-Pudlak syndrome: Mutation updateMarjan Huizing, May C V Malicdan, Jennifer A Wang, et al.Translational Research : the Journal of Laboratory and Clinical Medicine|September 15, 2019
A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory diseaseBernadette R Gochuico, Shira G Ziegler, Nicholas S Ten, et al.Journal of Inherited Metabolic Disease|May 13, 2020
Mutations in GET4 disrupt the transmembrane domain recognition complex pathwayMitali A Tambe, Bobby G Ng, Shino Shimada, et al.Kidney International Reports|November 9, 2019
Rationale and Design for a Phase 1 Study of <i>N</i>-Acetylmannosamine for Primary Glomerular DiseasesMarjan Huizing, Tal Yardeni, Federico Fuentes, et al.American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.The New England Journal of Medicine|October 27, 2020
Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory DiseaseDavid B Beck, Marcela A Ferrada, Keith A Sikora, et al.Pageof 1