Author

JES-Rite Michaels

Nationwide Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:mouse· 2 Organism:human· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Rolf W. StottmanniD· 2 shared Ammar HusamiiD· 1 shared Andrew DiStasio· 1 shared Andrew M. VontelliD· 1 shared Firdous Abdulwahab· 1 shared Fowzan Sami AlkurayaiD· 1 shared Hanan E. ShamseldiniD· 1 shared Kym M. BoycottiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersDevelopmental Biology

Rolf W. StottmannORCID

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2 papers

Recent·Most cited

Genetic Analysis and Functional Assessment of a TGFBR2 Variant in Micrognathia and Cleft Palate

JES-Rite Michaels, Paul P. R. Iyyanar, Ammar Husami, Andrew M. Vontell, Samantha A. Brugmann, Rolf W. Stottmann

The paper identifies a TGFBR2 variant in patients with micrognathia and cleft palate, tests its causality in mice, and finds it does not cause craniofacial anomalies, highlighting challenges in translating genetic findings to models.

PLoS ONE · Jun 9, 2025Peer-reviewedDevelopmental Biology

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly

Rebekah Rushforth, Hanan E. Shamseldin, Nicole Costantino, JES-Rite Michaels, Sarah L. Sawyer, Matthew Osmond, Wesam Kurdi, Firdous Abdulwahab, Andrew DiStasio, Kym M. Boycott, Fowzan Sami Alkuraya, Rolf W. Stottmann

This study identifies NUBP2 deficiency as a cause of primary microcephaly by showing its role in centrosome and cilia regulation during neurogenesis.

medRxiv · Jan 16, 2025 · PreprintGenetic & Genomic Medicine