Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
2020 · Nature Communications · 53 citations
https://doi.org/10.1038/s41467-020-14360-7
M
Michael Muriello
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Michael Muriello is an academic researcher from Medical College of Wisconsin. The author has contributed to research in topics: Genomics and Rare Diseases & Connective tissue disorders research & Neurogenetic and Muscular Disorders Research. The author has an h-index of 10, co-authored 33 publications.
ORCID: 0000-0003-0386-7622Papers by this author
worksCell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
2020 · Genetics in Medicine · 25 citations
https://doi.org/10.1038/s41436-020-0833-2
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
2025 · Nature Communications · 2 citations
https://doi.org/10.1038/s41467-025-61712-2
P060: Response to intravenous citrate on a patient on CKRT with pyruvate carboxylase deficiency type B (severe neonatal form)
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.100937
Second Report of the <scp>p.Leu874Pro</scp> Missense Variant in <scp><i>EPHB4</i></scp> in a Family With Capillary Malformation‐Arteriovenous Malformation Syndrome (<scp>CM</scp>‐<scp>AVM</scp>) Syndrome
2024 · American Journal of Medical Genetics Part A · 0 citations
https://doi.org/10.1002/ajmg.a.63898
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