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Andrew C. Edmondson, Ph.D. - Publications

Affiliations: 
2011 University of Pennsylvania, Philadelphia, PA, United States 
Area:
Molecular Biology, Genetics
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23 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A, Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, et al. Bi-allelic variants in the ER quality control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. American Journal of Human Genetics. PMID 34143952 DOI: 10.1016/j.ajhg.2021.05.010  0.448
2020 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, ... ... Edmondson AC, et al. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of 7 new subjects and review of the literature. Journal of Inherited Metabolic Disease. PMID 32588908 DOI: 10.1002/Jimd.12278  0.346
2020 Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, et al. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain : a Journal of Neurology. PMID 32293671 DOI: 10.1093/Brain/Awaa063  0.47
2020 Witters P, Tahata S, Barone R, Õunap K, Salvarinova R, Grønborg S, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32103184 DOI: 10.1038/S41436-020-0767-8  0.314
2019 Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, ... ... Edmondson AC, et al. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. American Journal of Human Genetics. PMID 30982613 DOI: 10.1016/J.Ajhg.2019.03.003  0.307
2017 Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH. A human case of SLC35A3-related skeletal dysplasia. American Journal of Medical Genetics. Part A. PMID 28777481 DOI: 10.1002/Ajmg.A.38374  0.359
2016 Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites. American Journal of Medical Genetics. Part A. PMID 27568880 DOI: 10.1002/Ajmg.A.37956  0.304
2016 Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, et al. Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents. Cell Metabolism. 24: 234-245. PMID 27508872 DOI: 10.1016/J.Cmet.2016.07.012  0.519
2016 Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, et al. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. American Journal of Medical Genetics. Part A. PMID 27302097 DOI: 10.1002/Ajmg.A.37739  0.339
2015 Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, et al. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nature Genetics. 47: 338-44. PMID 25730767 DOI: 10.1038/Ng.3229  0.345
2012 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, et al. Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism. The Journal of Clinical Investigation. 122: 2807-16. PMID 22751103 DOI: 10.1172/Jci63563  0.501
2012 Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, ... ... Edmondson AC, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. Plos Genetics. 8: e1002607. PMID 22479202 DOI: 10.1371/Journal.Pgen.1002607  0.463
2012 He J, Li H, Edmondson AC, Rader DJ, Li M. A Gaussian copula approach for the analysis of secondary phenotypes in case-control genetic association studies. Biostatistics (Oxford, England). 13: 497-508. PMID 21933777 DOI: 10.1093/Biostatistics/Kxr025  0.533
2011 Wang K, Edmondson AC, Li M, Gao F, Qasim AN, Devaney JM, Burnett MS, Waterworth DM, Mooser V, Grant SF, Epstein SE, Reilly MP, Hakonarson H, Rader DJ. Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation. Frontiers in Genetics. 2: 41. PMID 22303337 DOI: 10.3389/Fgene.2011.00041  0.552
2011 Khetarpal SA, Edmondson AC, Raghavan A, Neeli H, Jin W, Badellino KO, Demissie S, Manning AK, DerOhannessian SL, Wolfe ML, Cupples LA, Li M, Kathiresan S, Rader DJ. Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol. Plos Genetics. 7: e1002393. PMID 22174694 DOI: 10.1371/Journal.Pgen.1002393  0.567
2011 Edmondson AC, Braund PS, Stylianou IM, Khera AV, Nelson CP, Wolfe ML, Derohannessian SL, Keating BJ, Qu L, He J, Tobin MD, Tomaszewski M, Baumert J, Klopp N, Döring A, et al. Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol. Circulation. Cardiovascular Genetics. 4: 145-55. PMID 21303902 DOI: 10.1161/Circgenetics.110.957563  0.567
2011 He J, Wang K, Edmondson AC, Rader DJ, Li C, Li M. Gene-based interaction analysis by incorporating external linkage disequilibrium information. European Journal of Human Genetics : Ejhg. 19: 164-72. PMID 20924406 DOI: 10.1038/Ejhg.2010.164  0.439
2010 Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 466: 707-13. PMID 20686565 DOI: 10.1038/Nature09270  0.543
2009 Brown RJ, Edmondson AC, Griffon N, Hill TB, Fuki IV, Badellino KO, Li M, Wolfe ML, Reilly MP, Rader DJ. A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis. Journal of Lipid Research. 50: 1910-6. PMID 19411705 DOI: 10.1194/Jlr.P900020-Jlr200  0.531
2009 Jensen MK, Rimm EB, Mukamal KJ, Edmondson AC, Rader DJ, Vogel U, Tjønneland A, Sørensen TI, Schmidt EB, Overvad K. The T111I variant in the endothelial lipase gene and risk of coronary heart disease in three independent populations. European Heart Journal. 30: 1584-9. PMID 19411665 DOI: 10.1093/Eurheartj/Ehp145  0.519
2009 Edmondson AC, Brown RJ, Kathiresan S, Cupples LA, Demissie S, Manning AK, Jensen MK, Rimm EB, Wang J, Rodrigues A, Bamba V, Khetarpal SA, Wolfe ML, Derohannessian S, Li M, et al. Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans. The Journal of Clinical Investigation. 119: 1042-50. PMID 19287092 DOI: 10.1172/Jci37176  0.54
2008 Edmondson AC, Rader DJ. Genome-wide approaches to finding novel genes for lipid traits: the start of a long road. Circulation. Cardiovascular Genetics. 1: 3-6. PMID 20031536 DOI: 10.1161/Circgenetics.108.815530  0.552
2008 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, ... ... Edmondson AC, et al. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. Plos One. 3: e3583. PMID 18974833 DOI: 10.1371/Journal.Pone.0003583  0.516
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