Author

Anne M. Connolly

Nationwide Children's HospitalORCID 0000-0002-9193-2457Unclaimed ORCID profile · follow to get notified of new preprints

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 Anthony R. MilleriD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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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

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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