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JMIR Pediatrics and Parenting|July 16, 2026
Development of a Virtual Transition Program for Adolescents and Young Adults With Type 1 Diabetes: Three-Stage User-Centered Design StudySarah Cary Haynes, Patrick S Romano, Salvador Lopez, et al.
Molecular Genetics and Metabolism|November 23, 2019
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduriaGisele Pino, Erin Conboy, Silvia Tortorelli, et al.
Molecular Genetics and Metabolism Reports|August 24, 2017
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patientsFilippo Pinto Vairo, Nicole J Boczek, Margot A Cousin, et al.
Cold Spring Harbor Molecular Case Studies|November 28, 2022
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type IIIMuqsit Buchh, Patrick J Gillespie, Kayla Treat, et al.
Molecular Genetics & Genomic Medicine|January 12, 2019
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromasGavin R Oliver, Patrick R Blackburn, Marissa S Ellingson, et al.
American Journal of Human Genetics|June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal AbnormalitiesMargot A Cousin, Erin Conboy, Jian-She Wang, et al.
Brain : a Journal of Neurology|February 7, 2025
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndromeKevin T A Booth, Sharayu V Jangam, Martin M C Chui, et al.
Medrxiv : the Preprint Server for Health Sciences|July 17, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.
EMBO Molecular Medicine|August 26, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.
Human Molecular Genetics|August 8, 2023
Macrocephaly and developmental delay caused by missense variants in RAB5CKlaas Koop, Weimin Yuan, Federico Tessadori, et al.
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