Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variantTonya Moss, Richard Steet|Molecular Case Studies|2021Cited by 11
Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disordersJen‐Jie Lee, Richard Steet|iScience|2024Cited by 11
FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant CiliopathyLaura R. Claus, Richard Steet, Alban Ziegler et al.|Nephrology Dialysis Transplantation|2022Cited by 2
Heterozygous Variants in NEK8 Kinase Domain Cause an Autosomal-Dominant CiliopathyLaura R. Claus, Albertien M. van Eerde, Jennifer L. Stallworth et al.|Journal of the American Society of Nephrology|2021Cited by 0
Simpson‐Golabi‐Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of <scp>GPC3</scp>Tonya Moss, Richard Steet|American Journal of Medical Genetics Part A|2025Cited by 0