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American Journal of Human Genetics|April 28, 2015
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A DysfunctionK Nicole Weaver, Kristin E Noack Watt, Robert B Hufnagel, et al.
Nature Communications|January 3, 2024
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial developmentAndrea Wilderman, Eva D'haene, Machteld Baetens, et al.
American Journal of Medical Genetics. Part A|June 22, 2019
Costello syndrome: Clinical phenotype, genotype, and management guidelinesKaren W Gripp, Lindsey A Morse, Marni Axelrad, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 18, 2024
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndromeJenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2024
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndromeAlanna Strong, Michael E March, Christopher J Cardinale, et al.
Journal of Vascular Surgery|July 30, 2019
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosisSherene Shalhub, Peter H Byers, Kelli L Hicks, et al.
Journal of Vascular Surgery|May 26, 2019
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndromeSherene Shalhub, Peter H Byers, Kelli L Hicks, et al.
HGG Advances|April 30, 2026
Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in miceKassidy E Grover, Zoe R Cappel, Avery Volz, et al.
Biorxiv : the Preprint Server for Biology|December 25, 2025
Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in miceKassidy E Grover, Zoe R Cappel, Avery Volz, et al.
American Journal of Human Genetics|March 17, 2015
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaChristopher T Gordon, K Nicole Weaver, Roseli Maria Zechi-Ceide, et al.
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