Author

Howard M. Saal

Cincinnati Children's Hospital Medical CenterORCID 0000-0002-0277-4777Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Developmental Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Research Focus:cell type annotation· 2 Organism:human· 2 Organism:mouse· 2 Assay:bulk RNA-seq· 1 Research Focus:cell-cell communication· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Rolf W. StottmanniD· 3 shared Beth M. Kline‐FathiD· 2 shared Ryan P. LiegeliD· 2 shared Amy L. Pitstick· 1 shared Andrew DiStasio· 1 shared Andrew Timms· 1 shared Ashley M. DriveriD· 1 shared Chelsea A. MenkeiD· 1 shared

Activity by Year

2017-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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3 shared papersGenetics

Rolf W. StottmannORCID

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3 papers

Recent·Most cited

Differential requirements of tubulin genes in mammalian forebrain development.

Elizabeth Bittermann, Ryan P. Liegel, Chelsea A. Menke, Andrew Timms, David R. Beier, Beth M. Kline‐Fath, Howard M. Saal, Rolf W. Stottmann

The paper investigates the differential requirements of tubulin genes in mouse forebrain development, showing that some are essential while others are not.

PLoS Genetics · Aug 6, 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

A de novo missense mutation in TUBA1A results in reduced neural progenitor survival and differentiation

Ashley M. Driver, Amy L. Pitstick, Chris N. Mayhew, Beth M. Kline‐Fath, Howard M. Saal, Rolf W. Stottmann

The paper identifies a de novo TUBA1A mutation linked to cortical dysgenesis and shows it impairs neural progenitor survival and differentiation using iPSCs.

bioRxiv · Oct 16, 2017 · PreprintGenetics