Author

Neal K. Lakdawala

Brigham and Women's HospitalORCID 0000-0001-6458-5421Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Assay:protein structure· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1

Frequent Co-Authors

Adam S. HelmsiD· 3 shared Euan Angus AshleyiD· 3 shared ANJALI TIKU OWENSiD· 2 shared Carolyn Yung HoiD· 2 shared Iacopo OlivottoiD· 2 shared James S. WareiD· 2 shared Jodie InglesiD· 2 shared Michelle MichelsiD· 2 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Adam S. HelmsORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintJul 20, 2026

Damaging RBM20 E-rich domain variants are not rescued by gene replacement

Fang Bai, K.Y. Chua, Daniel Yuhang Li…·Victoria Nicole Parikh

The paper investigates E-rich domain variants of RBM20, showing they reduce protein abundance and cause splicing defects, but are not rescued by RBM20 overexpression.

DOI 10.64898/2026.07.13.738343

humanbulk RNA-seq

𝕏 PostBluesky

GenomicsbioRxivPreprintOct 7, 2025

Spatial genomics of the cardiac sarcomere

Christian Cadisch, Victoria Nicole Parikh, Megan E. Grove…·Euan Angus Ashley

The paper integrates genomic and structural data to identify variant intolerance regions in cardiac sarcomere genes and links them to disease mechanisms in hypertrophic cardiomyopathy.

DOI 10.1101/2025.10.07.680947

humanDNA methylation

𝕏 PostBluesky

GeneticsGenetics in MedicinePeer-reviewedMar 29, 2021

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

Andrea D. Thompson, Adam S. Helms, Anamika Kannan…·SHaRe investigators

The paper uses STRUM to predict subdomain stability in MYBPC3 variants, showing that variants causing misfolding are associated with higher adverse event rates in HCM patients.

16 citations

humanprotein structure

𝕏 PostBluesky