Richard Steet
11PUBLICATIONS
11CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (11)
Sort by Publication Date:
|Dec 03, 2025
Simpson-Golabi-Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of GPC3.Tonya Moss, Natasha L Rudy, Kaelyn Sparks
|Dec 20, 2024
Functional assessment of IDUA variants of uncertain significance identified by newborn screening.Seok-Ho Yu, Francyne Kubaski, Gavin Arno
|Sep 07, 2023
Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.Michelle Dookwah, Shannon K Wagner, Mayumi Ishihara
|Mar 06, 2023
Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency.Natasha Rudy, Kazuhiro Aoki, Amitha Ananth
|Oct 10, 2022
Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.Ryan C Vignogna, Mariateresa Allocca, Maria Monticelli
|Sep 06, 2022
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.Maxwell B Colonna, Tonya Moss, Sneha Mokashi
Pageof 2
Frequent Collaborators
1 joint publications
Elsenoor Klaver
1 joint publications
Tracy Murray Stewart
1 joint publications
Ryan C Vignogna
1 joint publications
Mariateresa Allocca
1 joint publications
Maria Monticelli
1 joint publications
Ethan O Perlstein
1 joint publications
Giuseppina Andreotti
1 joint publications
Gregory I Lang
1 joint publications
Michael Tiemeyer
1 joint publications
Seok-Ho Yu
