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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 21, 2022
The heart in RASopathiesAngelica Bibiana Delogu, Giuseppe Limongelli, Paolo Versacci, et al.
Genetics|March 16, 2021
Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variationYulia Mostovoy, Feyza Yilmaz, Stephen K Chow, et al.
The Journal of Biological Chemistry|July 16, 2020
Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondriaCatherine H Le, Lindsay G Benage, Kalyn S Specht, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|July 5, 2022
Hepatic abnormalities in youth with Turner syndromeIsani Singh, Gillian Noel, Jennifer M Barker, et al.
Mitochondrion|January 11, 2015
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processingKathryn C Chatfield, Curtis R Coughlin, Marisa W Friederich, et al.
Molecular Cell|October 7, 2022
Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complexChen-Wei Tsai, Madison X Rodriguez, Anna M Van Keuren, et al.
Pediatric Transplantation|July 2, 2019
Cardiac transplantation in children with Noonan syndromeLeslie M McCallen, Rebecca K Ameduri, Susan W Denfield, et al.
Human Molecular Genetics|January 2, 2017
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assemblyMarisa W Friederich, Alican J Erdogan, Curtis R Coughlin, et al.
Biorxiv : the Preprint Server for Biology|April 10, 2026
Mitochondrial and Cardiolipin Adaptations to Ventricular Assist Device Support in Pediatric Versus Adult Failing MyocardiumCaitlyn S Conard, Mariana Casa de Vito, Obed O Nyarko, et al.
JCI Insight|August 22, 2023
An extensive β1-adrenergic receptor gene signaling network regulates molecular remodeling in dilated cardiomyopathiesPhilip D Tatman, David P Kao, Kathryn C Chatfield, et al.
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