Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology N Mullins, AJ Forstner, KS O’Connell, B Coombes, JRI Coleman, Z Qiao, ... Nature genetics 53 (6), 817-829, 2021 | 871 | 2021 |
Gene conversion: mechanisms, evolution and human disease JM Chen, DN Cooper, N Chuzhanova, C Férec, GP Patrinos Nature Reviews Genetics 8 (10), 762-775, 2007 | 751 | 2007 |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene PR Sosnay, KR Siklosi, F Van Goor, K Kaniecki, H Yu, N Sharma, ... Nature genetics 45 (10), 1160-1167, 2013 | 696 | 2013 |
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server RC Hardison, DHK Chui, B Giardine, C Riemer, GP Patrinos, N Anagnou, ... Human mutation 19 (3), 225-233, 2002 | 523 | 2002 |
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations B Giardine, J Borg, E Viennas, C Pavlidis, K Moradkhani, P Joly, ... Nucleic acids research 42 (D1), D1063-D1069, 2014 | 468 | 2014 |
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies GP Patrinos, B Giardine, C Riemer, W Miller, DHK Chui, NP Anagnou, ... Nucleic acids research 32 (suppl_1), D537-D541, 2004 | 465 | 2004 |
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin J Borg, P Papadopoulos, M Georgitsi, L Gutiérrez, G Grech, P Fanis, ... Nature genetics 42 (9), 801-805, 2010 | 464 | 2010 |
Computational approaches in target identification and drug discovery T Katsila, GA Spyroulias, GP Patrinos, MT Matsoukas Computational and structural biotechnology journal 14, 177-184, 2016 | 396 | 2016 |
Implementing pharmacogenomics in Europe: design and implementation strategy of the ubiquitous pharmacogenomics consortium CH van der Wouden, A Cambon‐Thomsen, E Cecchin, KC Cheung, ... Clinical Pharmacology & Therapeutics 101 (3), 341-358, 2017 | 300 | 2017 |
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update B Giardine, S van Baal, P Kaimakis, C Riemer, W Miller, M Samara, ... Human mutation 28 (2), 206-206, 2007 | 263 | 2007 |
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study JJ Swen, CH van der Wouden, LEN Manson, H Abdullah-Koolmees, ... The Lancet 401 (10374), 347-356, 2023 | 225 | 2023 |
Multiple interactions between regulatory regions are required to stabilize an active chromatin hub GP Patrinos, M de Krom, E de Boer, A Langeveld, AMA Imam, ... Genes & development 18 (12), 1495-1509, 2004 | 223 | 2004 |
Human genetic factors associated with susceptibility to SARS-CoV-2 infection and COVID-19 disease severity C Anastassopoulou, Z Gkizarioti, GP Patrinos, A Tsakris Human genomics 14 (1), 40, 2020 | 189 | 2020 |
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach B Giardine, J Borg, DR Higgs, KR Peterson, S Philipsen, D Maglott, ... Nature genetics 43 (4), 295-301, 2011 | 188 | 2011 |
Genomic rearrangements in inherited disease and cancer JM Chen, DN Cooper, C Férec, H Kehrer-Sawatzki, GP Patrinos Seminars in cancer biology 20 (4), 222-233, 2010 | 186 | 2010 |
DNA hypermethylation: when tumour suppressor genes go silent GA Garinis, GP Patrinos, NE Spanakis, PG Menounos Human genetics 111 (2), 115-127, 2002 | 186 | 2002 |
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research R Thompson, L Johnston, D Taruscio, L Monaco, C Béroud, IG Gut, ... Journal of general internal medicine 29, 780-787, 2014 | 184 | 2014 |
Realities and expectations of pharmacogenomics and personalized medicine: impact of translating genetic knowledge into clinical practice A Squassina, M Manchia, VG Manolopoulos, M Artac, C Lappa-Manakou, ... Pharmacogenomics 11 (8), 1149-1167, 2010 | 183 | 2010 |
Global implementation of genomic medicine: we are not alone TA Manolio, M Abramowicz, F Al-Mulla, W Anderson, R Balling, ... Science translational medicine 7 (290), 290ps13-290ps13, 2015 | 177 | 2015 |
Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants A Perkins, X Xu, DR Higgs, GP Patrinos, L Arnaud, JJ Bieker, S Philipsen, ... Blood, The Journal of the American Society of Hematology 127 (15), 1856-1862, 2016 | 166 | 2016 |