Costello syndrome: Clinical phenotype, genotype, and management guidelines
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.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex
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
Published in Molecular cell (06.10.2022)
Published in Molecular cell (06.10.2022)
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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
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
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
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
Published in Human molecular genetics (15.10.2018)
Published in Human molecular genetics (15.10.2018)
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Maturation of Pluripotent Stem Cell-Derived Cardiomyocytes Enables Modeling of Human Hypertrophic Cardiomyopathy
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
Published in Stem cell reports (09.03.2021)
Published in Stem cell reports (09.03.2021)
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Elamipretide Improves Mitochondrial Function in the Failing Human Heart
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
Published in JACC. Basic to translational science (01.04.2019)
Published in JACC. Basic to translational science (01.04.2019)
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Chronic Lactate Exposure Decreases Mitochondrial Function by Inhibition of Fatty Acid Uptake and Cardiolipin Alterations in Neonatal Rat Cardiomyocytes
San-Millan, Iñigo, Sparagna, Genevieve C, Chapman, Hailey L, Warkins, Valerie L, Chatfield, Kathryn C, Shuff, Sydney R, Martinez, Janel L, Brooks, George A
Published in Frontiers in nutrition (Lausanne) (04.03.2022)
Published in Frontiers in nutrition (Lausanne) (04.03.2022)
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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
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
Published in Mitochondrion (01.03.2015)
Published in Mitochondrion (01.03.2015)
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Linoleate-Enrichment of Mitochondrial Cardiolipin Molecular Species Is Developmentally Regulated and a Determinant of Metabolic Phenotype
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
Published in Biology (Basel, Switzerland) (24.12.2022)
Published in Biology (Basel, Switzerland) (24.12.2022)
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Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
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.
Published in American journal of medical genetics. Part A (01.08.2018)
Published in American journal of medical genetics. Part A (01.08.2018)
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A Possible Mechanism for Redox Control of Human Neuroglobin Activity
Morozov, Alexander N, Roach, James P, Kotzer, Margarita, Chatfield, David C
Published in Journal of chemical information and modeling (28.07.2014)
Published in Journal of chemical information and modeling (28.07.2014)
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Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome
Kaur, Maninder, Izumi, Kosuke, Wilkens, Alisha B, Chatfield, Kathryn C, Spinner, Nancy B, Conlin, Laura K, Zhang, Zhe, Krantz, Ian D
Published in PloS one (16.10.2014)
Published in PloS one (16.10.2014)
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An extensive β1-adrenergic receptor gene signaling network regulates molecular remodeling in dilated cardiomyopathies
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
Published in JCI insight (22.08.2023)
Published in JCI insight (22.08.2023)
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Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis
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.
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
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Genomic Structure of an Attenuated Quasi Species of HIV-1 from a Blood Transfusion Donor and Recipients
Deacon, N. J., Tsykin, A., Solomon, A., Smith, K., Ludford-Menting, M., Hooker, D. J., McPhee, D. A., Greenway, A. L., Ellett, A., Chatfield, C., Lawson, V. A., Crowe, S., Maerz, A., Sonza, S., Learmont, J., Sullivan, J. S., Cunningham, A., Dwyer, D., Dowton, D., Mills, J.
Published in Science (American Association for the Advancement of Science) (10.11.1995)
Published in Science (American Association for the Advancement of Science) (10.11.1995)
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