Genome Analyses of> 200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders S Ligthart, A Vaez, U Võsa, MG Stathopoulou, PS de Vries, BP Prins, ... The American Journal of Human Genetics 103 (5), 691-706, 2018 | 369 | 2018 |
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus Y Lu, V Vitart, KP Burdon, CC Khor, Y Bykhovskaya, A Mirshahi, ... Nature genetics 45 (2), 155, 2013 | 356 | 2013 |
Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia MJ Kiel, T Velusamy, D Rolland, AA Sahasrabuddhe, F Chung, NG Bailey, ... Blood 124 (9), 1460-1472, 2014 | 261 | 2014 |
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma PG Hysi, CY Cheng, H Springelkamp, S Macgregor, JNC Bailey, ... Nature genetics 46 (10), 1126-1130, 2014 | 259 | 2014 |
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era Q Fang, AS George, ML Brinkmeier, AH Mortensen, P Gergics, ... Endocrine Reviews 37 (6), 636-675, 2016 | 191 | 2016 |
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects E Seong, R Insolera, M Dulovic, EJ Kamsteeg, J Trinh, N Brüggemann, ... Annals of neurology 83 (6), 1075-1088, 2018 | 149 | 2018 |
Genome-Wide Association Trans-Ethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels M Sabater-Lleal, JE Huffman, PS de Vries, J Marten, MA Mastrangelo, ... Circulation, 2019 | 129 | 2019 |
Genome-wide association study and meta-analysis of intraocular pressure AB Ozel, SE Moroi, DM Reed, M Nika, CM Schmidt, S Akbari, K Scott, ... Human genetics 133 (1), 41-57, 2014 | 116 | 2014 |
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association KC Desch, AB Ozel, D Siemieniak, Y Kalish, JA Shavit, CD Thornburg, ... Proceedings of the National Academy of Sciences 110 (2), 588-593, 2013 | 114 | 2013 |
Genome-Wide Analysis of Central Corneal Thickness in Primary Open-Angle Glaucoma Cases in the NEIGHBOR and GLAUGEN ConsortiaThe Effects of CCT-Associated Variants on POAG Risk M Ulmer, J Li, BL Yaspan, AB Ozel, JE Richards, SE Moroi, F Hawthorne, ... Investigative ophthalmology & visual science 53 (8), 4468-4474, 2012 | 69 | 2012 |
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice SJ Garnai, ML Brinkmeier, B Emery, TS Aleman, LC Pyle, B Veleva-Rotse, ... PLoS genetics 15 (5), e1008130, 2019 | 57 | 2019 |
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis FJA van Rooij, R Qayyum, AV Smith, Y Zhou, S Trompet, T Tanaka, ... The American Journal of Human Genetics 100 (1), 51-63, 2017 | 50 | 2017 |
Whole exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease K Desch, AB Ozel, M Halvorsen, PM Jacobi, KL Golden, MI Underwood, ... Blood, 2020 | 44 | 2020 |
Minimizing the Surface Effect on PCR in PDMS-Glass Chips by Dynamic Passivation Y Xia, Z Hua, E Gular, O Srivannavit, AB Ozel The 2005 Annual Meeting, 2005 | 38* | 2005 |
Increased soluble urokinase plasminogen activator levels modulate monocyte function to promote atherosclerosis G Hindy, DJ Tyrrell, A Vasbinder, C Wei, F Presswalla, H Wang, P Blakely, ... The Journal of Clinical Investigation 132 (24), 2022 | 36 | 2022 |
COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration AO Caglayan, H Gumus, E Sandford, TL Kubisiak, Q Ma, AB Ozel, H Per, ... The Cerebellum 18 (3), 665-669, 2019 | 32 | 2019 |
Genetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels Q Ma, AB Ozel, S Ramdas, B McGee, R Khoriaty, D Siemieniak, HD Li, ... Blood 124 (20), 3155-3164, 2014 | 32 | 2014 |
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency P Gergics, C Smith, H Bando, AAL Jorge, D Rockstroh-Lippold, ... medRxiv, 2021 | 29 | 2021 |
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 … D Lessel, AB Ozel, SE Campbell, A Saadi, MF Arlt, KM McSweeney, ... Human genetics 137 (11), 921-939, 2018 | 29 | 2018 |
Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels Q Ma, PM Jacobi, BT Emmer, CA Kretz, AB Ozel, B McGee, ... Blood Advances 1 (15), 1037-1046, 2017 | 29 | 2017 |