Author

Elizabeth R. Roeder

Baylor College of MedicineORCID 0000-0002-8439-657XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Abbey Scott· 1 shared Alejandro Iglesias· 1 shared Alicia Guemez‐GamboaiD· 1 shared Alison M. MuiriD· 1 shared Allyn McConkie-Rosell· 1 shared Amir Hossein SaeidianiD· 1 shared Amy Kritzer· 1 shared Amy SchneideriD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abbey Scott

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2 papers

Recent·Most cited

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

María del Rocío Pérez Baca, María Palomares‐Bralo, Michiel Vanhooydonck, Lisa Hamerlinck, Eva D’haene, Sebastian Leimbacher, Eva Jacobs, Laurenz De Cock, Erika D’haenens, Annelies Dheedene, Zoë Malfait, Lies Vantomme, Ananilia Silva, Kathleen Rooney, Xiaonan Zhao, , Stephanie Baskin

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

The American Journal of Human Genetics · May 13, 2025Peer-reviewedGenetic & Genomic Medicine

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

Egidio Spinelli, Kyle R. Christensen, Emily M. Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir, Jessica Giannelli, Rebecca Okashah Littlejohn, Elizabeth R. Roeder, Berkley Schmidt, William G. Wilson, Elysa J. Marco, Kazuhiro Iwama, Satoko Kumada, Tiziana Pisano, , Gemma L. Carvill

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

Annals of Neurology · Jun 29, 2021Peer-reviewedGenetics