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Richard Steet

11PUBLICATIONS

11CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Evolutionary computationGlycoconjugatesMedical infection agents (incl. prions)Automotive safety engineering

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Publications (11)

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|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 <i>ST3GAL5</i> 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

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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

Frequent Collaborators

1 joint publications

Elsenoor Klaver

1 joint publications

Tracy Murray Stewart

1 joint publications

Ryan C Vignogna

1 joint publications

Mariateresa Allocca

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