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Molecular Genetics and Metabolism|June 23, 2015
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatmentElsa G Shapiro, Igor Nestrasil, Kyle Rudser, et al.Molecular Genetics and Metabolism|January 11, 2022
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type IVictor Kovac, Elsa G Shapiro, Kyle D Rudser, et al.Pediatric Neurology|November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability SyndromeJacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.American Journal of Human Genetics|June 5, 2021
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of careDavid Dimmock, Sara Caylor, Bryce Waldman, et al.American Journal of Medical Genetics. Part A|March 26, 2019
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeuticsKatherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, et al.The New England Journal of Medicine|August 11, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone MigalastatDominique P Germain, Derralynn A Hughes, Kathleen Nicholls, et al.Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.American Journal of Medical Genetics. Part A|March 10, 2022
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discoveryMaria I Kontaridis, Amy E Roberts, Lisa Schill, et al.American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.Pageof 5