Author

Sandeep N. Wontakal

ORCID 0000-0003-0889-032XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

A. Arockia Jeyaprakash· 1 shared Alejandro D. IglesiasiD· 1 shared Aleksandra HelwakiD· 1 shared Alyssa L. RippertiD· 1 shared Amy Feldman Lewanda· 1 shared Ana Cazurro‐GutiérreziD· 1 shared Ana Laura Cazurro Gutiérrez· 1 shared Avinash V. DharmadhikariiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A. Arockia Jeyaprakash

Mutual co-authors in cluster

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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

A rare congenital anemia is caused by mutations in the centralspindlin complex

Sandeep N. Wontakal, Mishan Britto, Sarah Tannenbaum, Benjamin Heath Durham, Margaret T. Lee, Masanori Mishima

This study identifies compound heterozygous RACGAP1 variants causing CDAIII by disrupting the centralspindlin complex, leading to cytokinesis defects.

medRxiv · Apr 7, 2021 · PreprintGenetic & Genomic Medicine