Author

Jennifer M. Phillips

Stanford MedicineORCID 0000-0002-6360-2346Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:metabolomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Alexander KolevzoniD· 1 shared Anna S. TochevaiD· 1 shared Audrey E. ThurmiD· 1 shared Aya OsmaniD· 1 shared Benoît ScherreriD· 1 shared Brendan J. Beahm· 1 shared Brett L. CollinsiD· 1 shared Christina H. FrateriD· 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

Alexander KolevzonORCID

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2 papers

Recent·Most cited

NGLY1 Deficiency: A Prospective Natural History Study (NHS)

Sandra Tong-Starksen, Pamela E. Ventola, Christina H. Frater, Jenna M. Klotz, Jennifer M. Phillips, Srikanth Muppidi, Selina S. Dwight, William F. Mueller, Brendan J. Beahm, Matt Wilsey, 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.

Human Molecular Genetics · Jun 25, 2023Peer-reviewedGenetic & Genomic Medicine

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Michael S. Breen, Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett L. Collins, Aya Osman, Anna S. Tocheva, Mustafa Şahin, Elizabeth Berry‐Kravis, Latha Valluripalli Soorya, Audrey E. Thurm, Craig M. Powell, Jonathan Adam Bernstein, Alexander Kolevzon, Joseph D. Buxbaum, , Jennifer M. Phillips

This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.

Human Genetics and Genomics Advances · Sep 26, 2022Peer-reviewedGenetic & Genomic Medicine