<i>ROBO2</i> Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element
Novel common single nucleotide polymorphisms in regulatory elements controlling <i>ROBO2</i> transcription contribute to risk for ASDs. These data infer key roles for the Roundabout guidance receptor 2 and Slit ligands in embryogenic development and maturation of the atrial septa.
Authors
- Joshua Gorham (ORCID: https://orcid.org/0000-0001-5969-4690)
- Valentina N. Lagomarsino (ORCID: https://orcid.org/0000-0003-3195-1899)
- Lauren K. Wasson (ORCID: https://orcid.org/0000-0002-5193-5215)
- Erica Mazaika
- Laura Rodriguez‐Murillo
- Angela C. Tai
- Steven R. DePalma (ORCID: https://orcid.org/0000-0002-0381-5016)
- David McKean (ORCID: https://orcid.org/0000-0001-9023-7666)
- Tarsha Ward (ORCID: https://orcid.org/0000-0003-3740-3797)
- David A. Conner
- Hiroko Wakimoto
- Seong Won Kim (ORCID: https://orcid.org/0000-0001-5150-7571)
- Bruce D. Gelb
- Elizabeth Goldmuntz
- William T. Pu
- Jonathan G. Seidman
- A. J. Agopian
- Feng Xiao
- Inga Peter
- Michael Parfenov
- Arun Sharma
- Christine E. Seidman
- PCGC Investigators
- Olivia Layton
- Tracy L. Young-Pearse
Institutions
- Brigham and Women's Hospital (US)
- MACOM (United States) (US)
- Howard Hughes Medical Institute (US)
- Child Health and Development Institute (US)
- The University of Texas Health Science Center at Houston (US)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2026-02-16
- DOI
- https://doi.org/10.1161/circgen.124.004918
- Primary Topic
- Axon Guidance and Neuronal Signaling
- Type
- article
- Field-Weighted Citation Impact
- 0.00