Author

Jing-Mei Li

University of Bonn

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Assay:imaging· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Tzung‐Chien HsiehiD· 2 shared Abigail S. Krall· 1 shared Aileen A. NavaiD· 1 shared Alexander Stephen ByrneiD· 1 shared Amélie PitoniD· 1 shared Bharatendu ChandraiD· 1 shared Cristiane BenincáiD· 1 shared Didier LacombeiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Tzung‐Chien HsiehORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes

Aileen A. Nava, Yaneth Perez-Rodriguez, Tzung‐Chien Hsieh, Alexander Stephen Byrne, Abigail S. Krall, Jerome Freudenberg, Niloufar Mansooralavi, Vijaya Pandey, Linsey Stiles, Cristiane Benincá, Jing-Mei Li, Sanaa Choufani, Meghna Singh, Shahida Moosa, Irene Valenzuela, , Valerie A. Arboleda

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

medRxiv · Aug 17, 2026 · PreprintGenetic & Genomic Medicine

Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome

Tzung‐Chien Hsieh, Dylan Todd, Taylor Warner, Kayla Blankenship, Dimah Saade, Hannah Weiland, Meghna Ahuja Bhasin, Hannah Klinkhammer, Jing-Mei Li, Peter Michael Krawitz, Wei‐Liang Chen, Ho‐Ming Luk, Moon Ley Tung, Bharatendu Chandra

The paper reclassifies a variant of uncertain significance as likely pathogenic in Mowat-Wilson syndrome using next-generation phenotyping and multimodal data integration.

medRxiv · Feb 12, 2025 · PreprintGenetic & Genomic Medicine