Author

Srikanth Muppidi

Stanford MedicineORCID 0000-0002-2773-2506Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2

Frequent Co-Authors

Alice GardhamiD· 1 shared Amber Hogart BegtrupiD· 1 shared Brendan J. Beahm· 1 shared Caroline Fiona WrightiD· 1 shared Carrie A. Lahner· 1 shared Christina H. FrateriD· 1 shared Elena B. RieliD· 1 shared Elisabeth P. CarpenteriD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alice GardhamORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineHuman Molecular GeneticsPeer-reviewedJun 25, 2023

NGLY1 Deficiency: A Prospective Natural History Study (NHS)

Sandra Tong-Starksen, Pamela E. Ventola, Christina H. Frater…·Kevin J. Lee

This study tracks the clinical progression of NGLY1 Deficiency in 29 patients over 32 months, identifying key symptoms and biomarkers for future trial endpoints.

15 citations

𝕏 PostBluesky

Genetic & Genomic MedicineNature GeneticsPeer-reviewedOct 1, 2022

Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea

Janina Sörmann, Marcus Schewe, Peter Proks…·Stephen J. Tucker

The paper identifies de novo gain-of-function mutations in KCNK3 causing a developmental disorder with sleep apnea by disrupting X-gating of TASK-1 channels.

30 citations

𝕏 PostBluesky