| Biological, clinical and population relevance of 95 loci for blood lipids TM Teslovich, K Musunuru, AV Smith, AC Edmondson, IM Stylianou, ... Nature 466 (7307), 707-713, 2010 | 4061 | 2010 |
| Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies BJ Keating, S Tischfield, SS Murray, T Bhangale, TS Price, JT Glessner, ... PloS one 3 (10), e3583, 2008 | 456 | 2008 |
| Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism A Strong, Q Ding, AC Edmondson, JS Millar, KV Sachs, X Li, A Kumaravel, ... The Journal of clinical investigation 122 (8), 2807-2816, 2012 | 241 | 2012 |
| Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans AC Edmondson, RJ Brown, S Kathiresan, LA Cupples, S Demissie, ... The Journal of clinical investigation 119 (4), 1042-1050, 2009 | 231 | 2009 |
| Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin K Izumi, R Nakato, Z Zhang, AC Edmondson, S Noon, MC Dulik, ... Nature genetics 47 (4), 338-344, 2015 | 138 | 2015 |
| Loss of function of GALNT2 lowers high-density lipoproteins in humans, nonhuman primates, and rodents SA Khetarpal, KT Schjoldager, C Christoffersen, A Raghavan, ... Cell metabolism 24 (2), 234-245, 2016 | 119 | 2016 |
| Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol AC Edmondson, PS Braund, IM Stylianou, AV Khera, CP Nelson, ... Circulation: Cardiovascular Genetics 4 (2), 145-155, 2011 | 110 | 2011 |
| Overgrowth syndromes AC Edmondson, JM Kalish Journal of pediatric genetics, 136-143, 2015 | 81 | 2015 |
| An Arabidopsis homologue of bacterial RecA that complements an E. coli recA deletion is targeted to plant mitochondria FR Khazi, AC Edmondson, BL Nielsen Molecular Genetics and Genomics 269, 454-463, 2003 | 76 | 2003 |
| The metabolic map into the pathomechanism and treatment of PGM1-CDG S Radenkovic, MJ Bird, TL Emmerzaal, SY Wong, C Felgueira, KM Stiers, ... The American Journal of Human Genetics 104 (5), 835-846, 2019 | 75 | 2019 |
| A Gaussian copula approach for the analysis of secondary phenotypes in case–control genetic association studies J He, H Li, AC Edmondson, DJ Rader, M Li Biostatistics 13 (3), 497-508, 2012 | 74 | 2012 |
| Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals KL Yap, AEK Johnson, D Fischer, P Kandikatla, J Deml, V Nelakuditi, ... Genetics in Medicine 21 (1), 233-242, 2019 | 66* | 2019 |
| SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals BG Ng, P Sosicka, S Agadi, M Almannai, CA Bacino, R Barone, LD Botto, ... Human mutation 40 (7), 908-925, 2019 | 61 | 2019 |
| Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome AE Lin, C Michot, V Cormier‐Daire, TJ L'Ecuyer, GP Matherne, BH Barnes, ... American journal of medical genetics Part A 170 (10), 2617-2631, 2016 | 60 | 2016 |
| Characterization of a mitochondrially targeted single-stranded DNA-binding protein in Arabidopsis thaliana AC Edmondson, D Song, LA Alvarez, MK Wall, D Almond, DA McClellan, ... Molecular Genetics and Genomics 273, 115-122, 2005 | 59 | 2005 |
| Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG P Witters, S Tahata, R Barone, K Õunap, R Salvarinova, S Grønborg, ... Genetics in Medicine 22 (6), 1102-1107, 2020 | 56 | 2020 |
| Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function M Zilmer, AC Edmondson, SA Khetarpal, V Alesi, MS Zaki, K Rostasy, ... Brain 143 (4), 1114-1126, 2020 | 56 | 2020 |
| The T111I variant in the endothelial lipase gene and risk of coronary heart disease in three independent populations MK Jensen, EB Rimm, KJ Mukamal, AC Edmondson, DJ Rader, U Vogel, ... European heart journal 30 (13), 1584-1589, 2009 | 56 | 2009 |
| Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection … J Chen, X Li, A Edmondson, GD Meyers, K Izumi, AM Ackermann, ... Clinical chemistry 65 (5), 653-663, 2019 | 54 | 2019 |
| International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up, and management R Altassan, S Radenkovic, AC Edmondson, R Barone, S Brasil, ... Journal of inherited metabolic disease 44 (1), 148-163, 2021 | 40 | 2021 |
Mingyao LiProfessor of Biostatistics, University of Pennsylvania School of Medicine在 mail.med.upenn.edu 的电子邮件经过验证
