Author

Meghan C. Towne

Ambry Genetics (United States)ORCID 0000-0001-9460-2368Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

James R. LupskiiD· 2 shared Jennifer Ellen PoseyiD· 2 shared Laura Kathleen ConliniD· 2 shared A. Arockia Jeyaprakash· 1 shared Ahmet YeşilyurtiD· 1 shared Alejandro D. IglesiasiD· 1 shared Aleksandra HelwakiD· 1 shared Alison M. MuiriD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

James R. LupskiORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicineMolecular PsychiatryPeer-reviewedSep 16, 2026

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

Wallid Deb, Thomas Besnard, Florence Desprez…·Sébastien Küry

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

DOI 10.1038/s41380-026-03877-w

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedFeb 17, 2025

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian…·Universitat Autònoma de Barcelona. Departament de Medicina

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

DOI 10.1038/s41467-025-56876-w

zebrafishwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 30, 2023

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya…·Stephen Francis Kingsmore

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

138 citationstop 1%

whole-exome sequencingwhole-genome sequencing

𝕏 PostBluesky