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Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z. Akesson LS, et al. Among authors: love cj. Eur J Hum Genet. 2019 Dec;27(12):1821-1826. doi: 10.1038/s41431-019-0477-3. Epub 2019 Jul 29. Eur J Hum Genet. 2019. PMID: 31358953 Free PMC article.
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA, Vanderver A, Lockhart PJ, Helman G, Pope K, Uebergang E, Love C, Delatycki MB, Thorburn D, Mackay MT, Peters H, Kornberg AJ, Patel C, Rodriguez-Casero V, Waak M, Silberstein J, Sinclair A, Nolan M, Field M, Davis MR, Fahey M, Scheffer IE, Freeman JL, Wolf NI, Taft RJ, van der Knaap MS, Simons C, Leventer RJ. Stutterd CA, et al. Eur J Med Genet. 2022 Sep;65(9):104551. doi: 10.1016/j.ejmg.2022.104551. Epub 2022 Jul 5. Eur J Med Genet. 2022. PMID: 35803560
LINE-1 retrotransposons contribute to mouse PV interneuron development.
Bodea GO, Botto JM, Ferreiro ME, Sanchez-Luque FJ, de Los Rios Barreda J, Rasmussen J, Rahman MA, Fenlon LR, Jansz N, Gubert C, Gerdes P, Bodea LG, Ajjikuttira P, Da Costa Guevara DJ, Cumner L, Bell CC, Kozulin P, Billon V, Morell S, Kempen MHC, Love CJ, Saha K, Palmer LM, Ewing AD, Jhaveri DJ, Richardson SR, Hannan AJ, Faulkner GJ. Bodea GO, et al. Among authors: love cj. Nat Neurosci. 2024 May 21. doi: 10.1038/s41593-024-01650-2. Online ahead of print. Nat Neurosci. 2024. PMID: 38773348
Bruce L. Wilkoff, MD, December 12, 1954, to January 7, 2024.
Lindsay BD, Ellenbogen KA, Kay GN, Kennergren C, Love CJ, Wazni OM, Chung MK. Lindsay BD, et al. Among authors: love cj. Heart Rhythm. 2024 Apr;21(4):514-516. doi: 10.1016/j.hrthm.2024.01.054. Heart Rhythm. 2024. PMID: 38548425 No abstract available.
99 results