Author

Uğur Hodoğlugil

University of California, San FranciscoORCID 0009-0002-8834-5566Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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2024-2026 · peak 1/yr

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne Michele SlavotinekORCID

Mutual co-authors in cluster

2 papers

Genetic & Genomic MedicineHuman GeneticsPeer-reviewedMay 6, 2026

The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.

1 citation

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJan 3, 2024

The study finds no association between diagnostic yield of exome sequencing and genetic ancestry in a diverse pediatric and prenatal cohort.

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