Author

Jacque L. Duncan

University of California, San FranciscoORCID 0000-0002-9593-6412Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1 Approach:statistical model· 1 Organism:yeast· 1 Organism:zebrafish· 1

Frequent Co-Authors

Gavin ArnoiD· 2 shared Alaa AlTalbishiiD· 1 shared Alejandro GarantoiD· 1 shared Alexander HoischeniD· 1 shared Alexis Ceecee Britten‐JonesiD· 1 shared Alison J. HardcastleiD· 1 shared Ambro van HoofiD· 1 shared Amelia NaikiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Gavin ArnoORCID

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Author profile →

3 papers

Recent·Most cited

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K. Holtes, Stephen H. Tsang, Zelia Corradi, K. Bailey Freund, , Gaël Manès

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

medRxiv · Jan 6, 2025 · PreprintGenetic & Genomic Medicine

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders

James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Amelia Naik, Chelsea Bender, Nia Moore, Laryssa A. Huryn, Yuri V. Sergeev, Haohua Qian, Yong Zeng, Lijin Dong, Pinghu Liu, Jingqi Lei, , Robert B. Hufnagel

The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.

bioRxiv · Jun 9, 2023 · PreprintNeuroscience

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Anne Michele Slavotinek, Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman, Jennifer E. Hurtig, Liz Enyenihi, Maria C. Sterrett, Sara W. Leung, Dina Schneidman‐Duhovny, Juvianee I. Estrada‐Veras, Jacque L. Duncan, Charlotte A. Haaxma, Erik‐Jan Kamsteeg, , Anita H. Corbett

The paper reports three patients with biallelic EXOSC5 variants causing developmental delays, short stature, and cerebellar hypoplasia, and shows functional defects in RNA exosome activity.

Human Molecular Genetics · Jun 1, 2020Peer-reviewedGenetics