Author

Ester Masati

National Institutes of Health

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· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Adam Comer· 1 shared Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Alayne P. MeyeriD· 1 shared Andrew D. NguyeniD· 1 shared Aneesh G. PatankariD· 1 shared Anna SárközyiD· 1 shared Anne M. ConnollyiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam Comer

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1 paper

Recent·Most cited

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide

Sarah Silverstein, Andrew D. Nguyen, Rotem Orbach, Sandra C. Donkervoort, Thomas A. Cassini, Mary E. Koziura, Véronique Bolduc, Audrey M. Winkelsas, Ester Masati, Shreya Nandi, George G. Harmison, BE Johnson, Kory Johnson, Sarah E. Kargbo-Hill, Jason J. Bussgang, , Christopher Grunseich

This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.

medRxiv · Apr 29, 2026 · PreprintGenetic & Genomic Medicine