Author

Diana Xerxes Bharucha-Goebel

National Institutes of HealthORCID 0000-0002-7437-0982Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:long-read sequencing· 1 Organism:mouse· 1 Assay:proteomics· 1

Frequent Co-Authors

Carsten G. BönnemanniD· 2 shared Adam Comer· 1 shared Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Alayne P. MeyeriD· 1 shared Alexander Theodore ChesleriD· 1 shared Andrew D. NguyeniD· 1 shared Andrew G. MarshalliD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Carsten G. BönnemannORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 29, 2026

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…·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.

DOI 10.64898/2026.04.20.26351111

humanlong-read sequencing

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NeurosciencebioRxivPreprintDec 1, 2023

PIEZO2-dependent rapid pain system in humans and mice.

Otmane Bouchatta, Marek Brodzki, Houria Manouze…·Marcin Szczot

The paper identifies PIEZO2-dependent mechanical pain in humans and mice, showing hair-pull pain is mediated by Aβ inputs and specific nociceptors.

14 citations

humanmouse

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