Author

Andrew DiStasio

Cincinnati Children's Hospital Medical Center

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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Genetics· 2 Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 4 Organism:mouse· 4 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Rolf W. StottmanniD· 4 shared Cynthia A. ProwsiD· 2 shared Kristen Lipscomb SundiD· 2 shared Ashley M. DriveriD· 1 shared Beth M. Kline‐FathiD· 1 shared Biplab DasguptaiD· 1 shared David PauldingiD· 1 shared Elizabeth K. SchorryiD· 1 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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4 shared papersGenetics

Rolf W. StottmannORCID

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4 papers

Recent·Most cited

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

Nubp2 is required for cranial neural crest survival in the mouse.

Andrew DiStasio, David Paulding, Praneet Chaturvedi, Rolf W. Stottmann

The paper identifies a mutation in Nubp2 through an ENU screen and shows it is required for cranial neural crest survival and midfacial development.

Developmental Biology · Nov 14, 2019Peer-reviewedDevelopmental Biology

Using human sequencing to guide craniofacial research.

Ryan P. Liegel, Erin Finnerty, Lauren E. Blizzard, Andrew DiStasio, Robert B. Hufnagel, Howard M. Saal, Kristen Lipscomb Sund, Cynthia A. Prows, Rolf W. Stottmann

The paper discusses using human sequencing and CRISPR-Cas9 to study a novel craniofacial syndrome, finding that a variant in AMOTL1 causes lethality in mice but its pathogenicity in humans remains unclear.

genesis · Oct 30, 2018Peer-reviewedGenetics

Copb2 Is Essential For Embryogenesis And Hypomorphic Mutations Cause Human Microcephaly

Andrew DiStasio, Ashley M. Driver, Kristen Lipscomb Sund, Milene Donlin, Ranjithmenon Muraleedharan, Shabnam Pooya, Beth M. Kline‐Fath, Kenneth M. Kaufman, Cynthia A. Prows, Elizabeth K. Schorry, Biplab Dasgupta, Rolf W. Stottmann

The paper identifies COPB2 mutations as a cause of human microcephaly and shows that Copb2 is essential for embryogenesis and corticogenesis in mice.

Human Molecular Genetics · Sep 18, 2017Peer-reviewedGenetics