Author

Meghna Singh

University of California, Los AngelesORCID 0000-0002-7907-6571Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 3 Organism:human· 3 Research Focus:differential expression· 2 Assay:DNA methylation· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Assay:ATAC-seq· 1 Assay:ChIP-seq· 1

Frequent Co-Authors

Valerie A. ArboledaiD· 3 shared Aileen A. NavaiD· 2 shared Angela WeiiD· 2 shared Rosanna WeksbergiD· 2 shared Abigail S. Krall· 1 shared Aileen Ning· 1 shared Alexander Stephen ByrneiD· 1 shared Amélie PitoniD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Valerie A. ArboledaORCID

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3 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

KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster

Meghna Singh, Sarah J. Spendlove, Angela Wei, Leroy Bondhus, Aileen A. Nava, Francisca N. de Luna Vitorino, Seth Amano, Jacob Lee, Gesenia Echeverria, Dianne Gomez, Benjamin A. Garcia, Valerie A. Arboleda

This study identifies KAT6A mutations in ARTHS patients and shows their role in epigenetic regulation of the posterior HOXC cluster through chromatin accessibility, histone acetylation, and DNA methylation changes.

Human Genetics · Oct 20, 2023Peer-reviewedGenomics

Truncating ASXL1 mutations in Bohring-Opitz Syndrome dysregulate canonical and non-canonical Wnt Signaling

Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, Bianca E. Russell, Rosanna Weksberg, Valerie A. Arboleda

The paper identifies how ASXL1 mutations disrupt the epigenome and activate Wnt signaling pathways in Bohring-Opitz syndrome and myeloid leukemias.

bioRxiv · Dec 15, 2022 · PreprintGenetics