Author

Carrie Costin

Akron 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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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:Drosophila· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Research Focus:drug response / drug discovery· 1 Assay:electronic health records· 1

Frequent Co-Authors

Jill Anne RosenfeldiD· 3 shared Annick Raas‐RothschildiD· 2 shared Boris KereniD· 2 shared Maria Rosaria IasconeiD· 2 shared Odelia ChoriniD· 2 shared Aidin ForoutaniD· 1 shared Alali AbdulrazakiD· 1 shared Alban C. ZiegleriD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Jill Anne RosenfeldORCID

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3 papers

Recent·Most cited

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Scott Rosenfelt, Marie‐Pier Scott‐Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, , Marta Codina‐Solà

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

Nature Communications · Nov 26, 2025Peer-reviewedGenetic & Genomic Medicine

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, , Dorothea Wand

This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.

The American Journal of Human Genetics · Feb 26, 2024Peer-reviewedGenetic & Genomic Medicine

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Yue Huang, Kristy L. Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V. Jangam, Odelia Chorin, Annick Raas‐Rothschild, Ortal Barel, Milena Mariani, Maria Rosaria Iascone, Han Xue, Undiagnosed Diseases Network, Jing Yang Huang, Cyril Mignot, Boris Keren, , Julián A. Martínez-Agosto

The paper identifies de novo RBBP5 variants in individuals with neurodevelopmental disorders and shows they cause loss of function through structural and Drosophila model analyses.

bioRxiv · Feb 6, 2024 · PreprintGenetics