Costello syndrome: Clinical phenotype, genotype, and management guidelines von Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.

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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations von Regalado, Ellen S, Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C, Ades, Lesley, Benedict, Susan, Bradley, Timothy J, Brickner, M Elizabeth, Chatfield, Kathryn C, Child, Anne, Feist, Cori, Holmes, Kathryn W, Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A, Mitchell, Anna L, Ostergaard, John R, Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M

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Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex von Tsai, Chen-Wei, Rodriguez, Madison X., Van Keuren, Anna M., Phillips, Charles B., Shushunov, Hannah M., Lee, Jessica E., Garcia, Anastacia M., Ambardekar, Amrut V., Cleveland, Joseph C., Reisz, Julie A., Proenza, Catherine, Chatfield, Kathryn C., Tsai, Ming-Feng

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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome von Van Damme, Tim, Pang, Xiaomeng, Guillemyn, Brecht, Gulberti, Sandrine, Syx, Delfien, De Rycke, Riet, Kaye, Olivier, de Die-Smulders, Christine E M, Pfundt, Rolph, Kariminejad, Ariana, Nampoothiri, Sheela, Pierquin, Geneviève, Bulk, Saskia, Larson, Austin A, Chatfield, Kathryn C, Simon, Marleen, Legrand, Anne, Gerard, Marion, Symoens, Sofie, Fournel-Gigleux, Sylvie, Malfait, Fransiska

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Elamipretide Improves Mitochondrial Function in the Failing Human Heart von Chatfield, Kathryn C., MD, PhD, Sparagna, Genevieve C., PhD, Chau, Sarah, BS, Phillips, Elisabeth K., BS, Ambardekar, Amrut V., MD, Aftab, Muhammad, MD, Mitchell, Max B., MD, Sucharov, Carmen C., PhD, Miyamoto, Shelley D., MD, Stauffer, Brian L., MD

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Maturation of Pluripotent Stem Cell-Derived Cardiomyocytes Enables Modeling of Human Hypertrophic Cardiomyopathy von Knight, Walter E., Cao, Yingqiong, Lin, Ying-Hsi, Chi, Congwu, Bai, Betty, Sparagna, Genevieve C., Zhao, Yuanbiao, Du, Yanmei, Londono, Pilar, Reisz, Julie A., Brown, Benjamin C., Taylor, Matthew R.G., Ambardekar, Amrut V., Cleveland, Joseph C., McKinsey, Timothy A., Jeong, Mark Y., Walker, Lori A., Woulfe, Kathleen C., D'Alessandro, Angelo, Chatfield, Kathryn C., Xu, Hongyan, Bristow, Michael R., Buttrick, Peter M., Song, Kunhua

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In-utero idiopathic ductal constriction: a prenatal manifestation of Alagille and Williams syndrome arteriopathy von Srinivasan, Shardha, Howley, Lisa W., Cuneo, Bettina F., Chatfield, Kathryn C.

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Chronic Lactate Exposure Decreases Mitochondrial Function by Inhibition of Fatty Acid Uptake and Cardiolipin Alterations in Neonatal Rat Cardiomyocytes von San-Millan, Iñigo, Sparagna, Genevieve C, Chapman, Hailey L, Warkins, Valerie L, Chatfield, Kathryn C, Shuff, Sydney R, Martinez, Janel L, Brooks, George A

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Linoleate-Enrichment of Mitochondrial Cardiolipin Molecular Species Is Developmentally Regulated and a Determinant of Metabolic Phenotype von Sparagna, Genevieve C, Jonscher, Raleigh L, Shuff, Sydney R, Phillips, Elisabeth K, Wilson, Cortney E, Woulfe, Kathleen C, Garcia, Anastacia M, Stauffer, Brian L, Chatfield, Kathryn C

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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing von Chatfield, Kathryn C, Coughlin, 2nd, Curtis R, Friederich, Marisa W, Gallagher, Renata C, Hesselberth, Jay R, Lovell, Mark A, Ofman, Rob, Swanson, Michael A, Thomas, Janet A, Wanders, Ronald J A, Wartchow, Eric P, Van Hove, Johan L K

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Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients von Levin, Mark D., Saitta, Sulagna C., Gripp, Karen W., Wenger, Tara L., Ganesh, Jaya, Kalish, Jennifer M., Epstein, Michael R., Smith, Rosemarie, Czosek, Richard J., Ware, Stephanie M., Goldenberg, Paula, Myers, Angela, Chatfield, Kathryn C., Gillespie, Matthew J., Zackai, Elaine H., Lin, Angela E.

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Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome von Kaur, Maninder, Izumi, Kosuke, Wilkens, Alisha B, Chatfield, Kathryn C, Spinner, Nancy B, Conlin, Laura K, Zhang, Zhe, Krantz, Ian D

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An extensive β1-adrenergic receptor gene signaling network regulates molecular remodeling in dilated cardiomyopathies von Tatman, Philip D, Kao, David P, Chatfield, Kathryn C, Carroll, Ian A, Wagner, Jessica A, Jonas, Eric R, Sucharov, Carmen C, Port, J David, Lowes, Brian D, Minobe, Wayne A, Huebler, Sophia P, Karimpour-Fard, Anis, Rodriguez, Erin M, Liggett, Stephen B, Bristow, Michael R

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Trametinib for refractory chylous effusions and systemic complications in children with Noonan syndrome von Nakano, Taizo A., Rankin, Alexander W., Annam, Aparna, Kulungowski, Ann M., McCallen, Leslie M., Hill, Lauren R., Chatfield, Kathryn C.

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Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis von Chatfield, Kathryn C., Schrier, Samantha A., Li, Jennifer, Clark, Dinah, Kaur, Maninder, Kline, Antonie D., Deardorff, Matthew A., Jackson, Laird S., Goldmuntz, Elizabeth, Krantz, Ian D.

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MEK Inhibition Improves Cardiomyopathy in Costello Syndrome von Geddes, Gabrielle C., Parent, John J., Lander, Julie, Jeewa, Aamir, Ware, Stephanie M., Villa, Chet, Chatfield, Kathryn C., Weaver, K. Nicole

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The Prevalence of Noonan Spectrum Disorders in Pediatric Patients with Pulmonary Valve Stenosis von Bell, Janet M., Considine, Ellen M., McCallen, Leslie M., Chatfield, Kathryn C.

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Megacystis Associated With an Underlying ACTA2 Variant and Diagnosis of Multisystemic Smooth Muscle Dysfunction Syndrome: A Case Report von Micke, Kestutis C., Stence, Nicholas V., Meyers, Mariana L., Chatfield, Kathryn C., Vemulakonda, Vijaya M.

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Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria von Le, Catherine H., Benage, Lindsay G., Specht, Kalyn S., Li Puma, Lance C., Mulligan, Christopher M., Heuberger, Adam L., Prenni, Jessica E., Claypool, Steven M., Chatfield, Kathryn C., Sparagna, Genevieve C., Chicco, Adam J.

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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 assembly von Friederich, Marisa W, Erdogan, Alican J, Coughlin, 2nd, Curtis R, Elos, Mihret T, Jiang, Hua, O'Rourke, Courtney P, Lovell, Mark A, Wartchow, Eric, Gowan, Katherine, Chatfield, Kathryn C, Chick, Wallace S, Spector, Elaine B, Van Hove, Johan L K, Riemer, Jan

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