Kathryn C. Chatfield

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

Elamipretide Improves Mitochondrial Function in the Failing Human Heart

Kathryn C. Chatfield, Genevieve C. Sparagna, Sarah Chau et al. · JACC Basic to Translational Science · 2019 · 126 citations · Full text

Medicine, Cardiology, Pharmacology +16

Automated syndrome diagnosis by three-dimensional facial imaging

Benedikt Hallgrímsson, J. David Aponte, David C. Katz et al. · Genetics in Medicine · 2020 · 104 citations · Full text

Medicine, Genetics, Biomedical Imaging +16

Clinical and biochemical characterization of four patients with mutations in ECHS1

Sacha Ferdinandusse, Marisa W. Friederich, Alberto Burlina et al. · Orphanet Journal of Rare Diseases · 2015 · 84 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Ellen S. Regalado, Lauren Mellor-Crummey, Julie De Backer et al. · Genetics in Medicine · 2018 · 84 citations · Full text

Medicine, Cardiology, Pediatrics +16