Author

Scott E. Hickey

Nationwide Children's HospitalORCID 0000-0001-6098-2008Unclaimed 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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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Davut Pehli̇vaniD· 2 shared James R. LupskiiD· 2 shared Jennifer Ellen PoseyiD· 2 shared Theresa Mihalic MosheriD· 2 shared A. Arockia Jeyaprakash· 1 shared Adam W. HanseniD· 1 shared Adekunle M. AdesinaiD· 1 shared Alejandro D. IglesiasiD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Davut Pehli̇vanORCID

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2 papers

Recent·Most cited

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

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian, Elena Kondakova, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Daniel C. Koboldt, Amy Feldman Lewanda, Pengfei Liu, Dana Marafi, Jennifer Ellen Posey, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, , 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.

Nature Communications · Feb 17, 2025Peer-reviewedGenetic & Genomic Medicine

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

Xia Wang, Jennifer Ellen Posey, Jill Anne Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna L. Immken, Jill M. Harris, Scott E. Hickey, Theresa Mihalic Mosher, Anne Michele Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, , Paolo M. Moretti

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

Annals of Clinical and Translational Neurology · Sep 15, 2018Peer-reviewedGenetics