Author

Monica Penon‐Portmann

University of California, San FranciscoORCID 0000-0002-3011-440XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Joseph T.C. ShiehiD· 3 shared Adrian SantanaiD· 1 shared Aleksandar RajkoviciD· 1 shared Andrew G. SharoiD· 1 shared Anne Michele SlavotinekiD· 1 shared Beatriz Rodríguez‐AlonsoiD· 1 shared Bryce A. MendelsohniD· 1 shared Camilla Berera· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Joseph T.C. ShiehORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 30, 2023

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

Joseph T.C. Shieh, Jesus A Tintos-Hernández, Chaya Nautiyal Murali…·Xilma Rosa Ortiz-Gonzalez

This study identifies heterozygous FTH1 variants causing a novel pediatric neuroferritinopathy with neuroimaging and neuropathological features, and suggests antisense oligonucleotide therapy.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedSep 23, 2021

Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders

Joseph T.C. Shieh, Monica Penon‐Portmann, Karen H. Y. Wong…·Dario Boffelli

This study evaluates the Full Genome Analysis method for diagnosing rare monogenic disorders, finding a 40% diagnostic yield in clinical cases.

56 citationstop 2%

humanwhole-genome sequencing

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GeneticsbioRxivPreprintAug 15, 2020

Human Embryonic Expression Identifies Novel Essential Gene Candidates

Monica Penon‐Portmann, Jiyoo Chang, David R. Blair…·Joseph T.C. Shieh

The paper identifies novel essential gene candidates by analyzing human embryonic gene expression and integrating it with mouse knockout data and evolutionary conservation.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky