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Page 1
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
Yu HC, Coughlin CR, Geiger EA, Salvador BJ, Elias ER, Cavanaugh JL, Chatfield KC, Miyamoto SD, Shaikh TH. Yu HC, et al. Among authors: chatfield kc. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000844. doi: 10.1101/mcs.a000844. Cold Spring Harb Mol Case Stud. 2016. PMID: 27148590 Free PMC article.
Dysregulation of cardiolipin biosynthesis in pediatric heart failure.
Chatfield KC, Sparagna GC, Sucharov CC, Miyamoto SD, Grudis JE, Sobus RD, Hijmans J, Stauffer BL. Chatfield KC, et al. J Mol Cell Cardiol. 2014 Sep;74:251-9. doi: 10.1016/j.yjmcc.2014.06.002. Epub 2014 Jun 14. J Mol Cell Cardiol. 2014. PMID: 24937604 Free PMC article.
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Ferdinandusse S, et al. Orphanet J Rare Dis. 2015 Jun 18;10:79. doi: 10.1186/s13023-015-0290-1. Orphanet J Rare Dis. 2015. PMID: 26081110 Free PMC article.
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.
Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Friederich MW, et al. Among authors: chatfield kc. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431. Hum Mol Genet. 2017. PMID: 28040730 Free PMC article.
Elamipretide Improves Mitochondrial Function in the Failing Human Heart.
Chatfield KC, Sparagna GC, Chau S, Phillips EK, Ambardekar AV, Aftab M, Mitchell MB, Sucharov CC, Miyamoto SD, Stauffer BL. Chatfield KC, et al. JACC Basic Transl Sci. 2019 Apr 29;4(2):147-157. doi: 10.1016/j.jacbts.2018.12.005. eCollection 2019 Apr. JACC Basic Transl Sci. 2019. PMID: 31061916 Free PMC article.
Alteration of cardiolipin biosynthesis and remodeling in single right ventricle congenital heart disease.
Garcia AM, McPhaul JC, Sparagna GC, Jeffrey DA, Jonscher R, Patel SS, Sucharov CC, Stauffer BL, Miyamoto SD, Chatfield KC. Garcia AM, et al. Among authors: chatfield kc. Am J Physiol Heart Circ Physiol. 2020 Apr 1;318(4):H787-H800. doi: 10.1152/ajpheart.00494.2019. Epub 2020 Feb 14. Am J Physiol Heart Circ Physiol. 2020. PMID: 32056460 Free PMC article.
Automated syndrome diagnosis by three-dimensional facial imaging.
Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Hallgrímsson B, et al. Among authors: chatfield kc. Genet Med. 2020 Oct;22(10):1682-1693. doi: 10.1038/s41436-020-0845-y. Epub 2020 Jun 1. Genet Med. 2020. PMID: 32475986 Free PMC article.
45 results