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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P. Adam, Amber Begtrup, Debora R. Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, Maria J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger Ladda, Lisa A. Lansdon
- Cincinnati Children’s Hospital Medical Center
- Stowers Institute for Medical Research
- National Institute of Genetics Mishima
- KEK and Graduate University for Advanced Studies (Sokendai)
- Center for Microbial Pathogenesis
- University of Washington School of Medicine
- GeneDx
- University of São Paulo
- Atrium Health's Levine Children's Hospital
- Sibley Heart Center Cardiology
- New York University (NYU)
- Charles University
- AP-HP
- Children's Mercy Kansas City
- Penn State Health
- Children's Mercy Research Institute
- University of Missouri Kansas City School of Medicine
- Murdoch Children’s Research Institute and University of Melbourne Department of Paediatrics
- University of Melbourne
- Australian Genomics Health Alliance
- University of Texas at Austin
- Japanese Foundation for Cancer Research
- P. J. Safarik University
- University Hospital L. Pasteur
- University of California San Francisco
- Royal Hospital for Children, Glasgow
- CHU de Caen and INSERM U919-Groupement d'Intérêt Public Cyceron
- Helmholtz Zentrum München German Research Center for Environmental Health
- Technical University of Munich
- Munich Cluster for Systems Neurology (SyNergy)
- Erasmus University Medical Center
- Ohio State University College of Medicine
- University of Kansas Medical School
- University of Cincinnati College of Medicine
Research output: Contribution to journal › Article › peer-review
6
Scopus
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