Author

Natalie C. Lippa

Columbia University Irving Medical CenterORCID 0000-0002-7316-1476Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

David B. GoldsteiniD· 2 shared A. Arockia Jeyaprakash· 1 shared Alejandro D. IglesiasiD· 1 shared Aleksandra HelwakiD· 1 shared Ali G. GharaviiD· 1 shared Alyssa L. RippertiD· 1 shared Amy Feldman Lewanda· 1 shared Ana Cazurro‐GutiérreziD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

David B. GoldsteinORCID

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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

Children with Critical Illness Carry Risk Variants Despite Non-Diagnostic Whole Exome Sequencing

Joshua E. Motelow, Natalie C. Lippa, Joseph A. Hostyk, Evin S. Feldman, Matthew Nelligan, Zhong Ren, Anna Alkelai, Joshua D. Milner, Ali G. Gharavi, Yingying Tang, David B. Goldstein, Steven G. Kernie

This study finds that children with critical illness and non-diagnostic whole exome sequencing may still carry risk variants in genes not previously associated with disease.

medRxiv · May 1, 2022 · PreprintGenetic & Genomic Medicine