Author
The University of Texas Southwestern Medical CenterORCID 0000-0002-9025-3276Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Min Ni, Ling Cai, Hieu Vu…·Ralph J. DeBerardinis
This study uses metabolomics to analyze 474 subjects with inborn errors of metabolism, identifying genotype-specific metabolic alterations and providing diagnostic tools and a database of metabolomic features.
Ling Cai, Hieu Vu, Wen Gu…·Ralph J. DeBerardinis
The paper introduces a web application for exploring metabolomics data from plasma and fibroblasts of patients with inborn errors of metabolism, enabling analysis of metabolic deviations and relationships.
Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano…·Gregory M. Cooper
The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.
Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma…·Mir Reza Bekheirnia
The paper investigates congenital kidney and urinary tract anomalies and genital defects in DYRK1A mutation carriers, showing DYRK1A's role in genitourinary development through Xenopus studies.