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Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.
Daoud H, Zhang D, McMurray F, Yu A, Luco SM, Vanstone J, Jarinova O, Carson N, Wickens J, Shishodia S, Choi H, McDonough MA, Schofield CJ, Harper ME, Dyment DA, Armour CM. Daoud H, et al. Among authors: harper me. J Med Genet. 2016 Mar;53(3):200-7. doi: 10.1136/jmedgenet-2015-103399. Epub 2015 Sep 16. J Med Genet. 2016. PMID: 26378117
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.
Vanstone JR, Smith AM, McBride S, Naas T, Holcik M, Antoun G, Harper ME, Michaud J, Sell E, Chakraborty P, Tetreault M; Care4Rare Consortium; Majewski J, Baird S, Boycott KM, Dyment DA, MacKenzie A, Lines MA. Vanstone JR, et al. Among authors: harper me. Eur J Hum Genet. 2016 Jul;24(7):1084-8. doi: 10.1038/ejhg.2015.243. Epub 2015 Nov 25. Eur J Hum Genet. 2016. PMID: 26604000 Free PMC article.
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Smith A, McBride S, Marcadier JL, Michaud J, Al-Dirbashi OY, Schwartzentruber J, Beaulieu CL, Katz SL; FORGE Canada Consortium; Majewski J, Bulman DE, Geraghty MT, Harper ME, Chakraborty P, Lines MA. Smith A, et al. Among authors: harper me. JIMD Rep. 2016;30:73-79. doi: 10.1007/8904_2016_536. Epub 2016 Jun 16. JIMD Rep. 2016. PMID: 27306203 Free PMC article.
313 results