K. Nicole Weaver

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Karen W. Gripp, Lindsey A. Morse, Marni E. Axelrad et al. · American Journal of Medical Genetics Part A · 2019 · 131 citations · Full text

Life Sciences, Dermatology, Genetics +17

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

K. Nicole Weaver, Kristin E. Noack Watt, Robert B. Hufnagel et al. · The American Journal of Human Genetics · 2015 · 88 citations · Full text

Medicine, Pathology, Articulation Disorders +8

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome

Sherene Shalhub, Peter H. Byers, Kelli L. Hicks et al. · Journal of Vascular Surgery · 2019 · 67 citations · Full text

Medicine, Pathology, Surgery +15

POLRMT mutations impair mitochondrial transcription causing neurological disease

Monika Oláhová, Bradley Peter, Zsolt Szilágyi et al. · Nature Communications · 2021 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis

Sherene Shalhub, Peter H. Byers, Kelli L. Hicks et al. · Journal of Vascular Surgery · 2019 · 50 citations · Full text

Medicine, Internal Medicine, Rheumatology +10