Author

Theresa Mihalic Mosher

Nationwide Children's HospitalORCID 0000-0003-3697-5590Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

James R. LupskiiD· 3 shared Daniel C. KoboldtiD· 2 shared Davut Pehli̇vaniD· 2 shared Henry HouldeniD· 2 shared Jennifer Ellen PoseyiD· 2 shared Reza MaroofianiD· 2 shared Scott E. HickeyiD· 2 shared Stéphanie EfthymiouiD· 2 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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3 shared papersGenetics

James R. LupskiORCID

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3 papers

Recent·Most cited

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

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GeneticsGenetics in MedicinePeer-reviewedAug 3, 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega…·Tahsin Stefan Barakat

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

36 citations

humanstatistical model

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GeneticsAnnals of Clinical and Translational NeurologyPeer-reviewedSep 15, 2018

Phenotypic expansion in DDX3X -- a common cause of intellectual disability in females

Xia Wang, Jennifer Ellen Posey, Jill Anne Rosenfeld…·Paolo M. Moretti

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.

84 citationstop 3%

human

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