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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, Gripp KW, Edmondson AC, He M, Spillmann RC, Eklund EA, Bayat A, McMillan HJ, Boycott KM, Campeau PM. Johnstone DL, et al. Among authors: edmondson ac. J Inherit Metab Dis. 2020 Nov;43(6):1321-1332. doi: 10.1002/jimd.12278. Epub 2020 Aug 3. J Inherit Metab Dis. 2020. PMID: 32588908 Free PMC article. Review.
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, Li M, Derohannessian S, de Bakker PI, Bailey SD, Montpetit A, Edmondson AC, Taylor K, Gai X, Wang SS, Fornage M, Shaikh T, Groop L, Boehnke M, Hall AS, Hattersley AT, Frackelton E, Patterson N, Chiang CW, Kim CE, Fabsitz RR, Ouwehand W, Price AL, Munroe P, Caulfield M, Drake T, Boerwinkle E, Reich D, Whitehead AS, Cappola TP, Samani NJ, Lusis AJ, Schadt E, Wilson JG, Koenig W, McCarthy MI, Kathiresan S, Gabriel SB, Hakonarson H, Anand SS, Reilly M, Engert JC, Nickerson DA, Rader DJ, Hirschhorn JN, Fitzgerald GA. Keating BJ, et al. Among authors: edmondson ac. PLoS One. 2008;3(10):e3583. doi: 10.1371/journal.pone.0003583. Epub 2008 Oct 31. PLoS One. 2008. PMID: 18974833 Free PMC article.
Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism.
Strong A, Ding Q, Edmondson AC, Millar JS, Sachs KV, Li X, Kumaravel A, Wang MY, Ai D, Guo L, Alexander ET, Nguyen D, Lund-Katz S, Phillips MC, Morales CR, Tall AR, Kathiresan S, Fisher EA, Musunuru K, Rader DJ. Strong A, et al. Among authors: edmondson ac. J Clin Invest. 2012 Aug;122(8):2807-16. doi: 10.1172/JCI63563. Epub 2012 Jul 2. J Clin Invest. 2012. PMID: 22751103 Free PMC article.
Erratum.
Edmondson AC, Salant J, Ierardi-Curto LA, Ficicioglu C. Edmondson AC, et al. JIMD Rep. 2017;33:109-110. doi: 10.1007/8904_2017_587. JIMD Rep. 2017. PMID: 28409479 Free PMC article. No abstract available.
An 8-year-old girl with abdominal pain and mental status changes.
Ahrens-Nicklas RC, Edmondson AC, Ficicioglu C. Ahrens-Nicklas RC, et al. Among authors: edmondson ac. Pediatr Emerg Care. 2015 Jun;31(6):459-62. doi: 10.1097/PEC.0000000000000504. Pediatr Emerg Care. 2015. PMID: 26035505 Review. No abstract available.
90 results