| FinnGen provides genetic insights from a well-phenotyped isolated population MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, KM Donner, ... Nature 613 (7944), 508-518, 2023 | 2073 | 2023 |
| Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip F Rahimov, ML Marazita, A Visel, ME Cooper, MJ Hitchler, M Rubini, ... Nature genetics 40 (11), 1341-1347, 2008 | 517 | 2008 |
| FinnGen: Unique genetic insights from combining isolated population and national health register data MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, K Donner, ... medrxiv, 2022.03. 03.22271360, 2022 | 446 | 2022 |
| Genetics of nonsyndromic orofacial clefts F Rahimov, A Jugessur, JC Murray The Cleft palate-craniofacial journal 49 (1), 73-91, 2012 | 342 | 2012 |
| Medical sequencing of candidate genes for nonsyndromic cleft lip and palate AR Vieira, JR Avila, S Daack-Hirsch, E Dragan, TM Félix, F Rahimov, ... PLoS genetics 1 (6), e64, 2005 | 329 | 2005 |
| Cellular and molecular mechanisms underlying muscular dystrophy F Rahimov, LM Kunkel Journal of Cell Biology 201 (4), 499-510, 2013 | 314 | 2013 |
| Variation in the HLA-G promoter region influences miscarriage rates C Ober, CL Aldrich, I Chervoneva, C Billstrand, F Rahimov, HL Gray, ... The American Journal of Human Genetics 72 (6), 1425-1435, 2003 | 289 | 2003 |
| A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency HH Jabara, SE Boyden, J Chou, N Ramesh, MJ Massaad, H Benson, ... Nature genetics 48 (1), 74-78, 2016 | 253 | 2016 |
| Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis TI Jones, JCJ Chen, F Rahimov, S Homma, P Arashiro, ML Beermann, ... Human molecular genetics 21 (20), 4419-4430, 2012 | 206 | 2012 |
| Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes KJ Karczewski, M Solomonson, KR Chao, JK Goodrich, G Tiao, W Lu, ... Cell genomics 2 (9), 2022 | 205 | 2022 |
| MicroRNA-486–dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy–associated symptoms MS Alexander, JC Casar, N Motohashi, NM Vieira, I Eisenberg, ... The Journal of clinical investigation 124 (6), 2651-2667, 2014 | 153 | 2014 |
| Genetic variants in IRF6 and the risk of facial clefts: single‐marker and haplotype‐based analyses in a population‐based case‐control study of facial clefts in Norway A Jugessur, F Rahimov, RT Lie, AJ Wilcox, HK Gjessing, RM Nilsen, ... Genetic Epidemiology: The Official Publication of the International Genetic …, 2008 | 149 | 2008 |
| Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy G Stadler, F Rahimov, OD King, JCJ Chen, JD Robin, KR Wagner, ... Nature structural & molecular biology 20 (6), 671-678, 2013 | 132 | 2013 |
| CD82 is a marker for prospective isolation of human muscle satellite cells and is linked to muscular dystrophies MS Alexander, A Rozkalne, A Colletta, JM Spinazzola, S Johnson, ... Cell stem cell 19 (6), 800-807, 2016 | 121 | 2016 |
| Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers F Rahimov, OD King, DG Leung, GM Bibat, CP Emerson Jr, LM Kunkel, ... Proceedings of the National Academy of Sciences 109 (40), 16234-16239, 2012 | 97 | 2012 |
| Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9 K Schmitz-Abe, SJ Ciesielski, PJ Schmidt, DR Campagna, F Rahimov, ... Blood, The Journal of the American Society of Hematology 126 (25), 2734-2738, 2015 | 90 | 2015 |
| Comparative RNA editing in autistic and neurotypical cerebella A Eran, JB Li, K Vatalaro, J McCarthy, F Rahimov, C Collins, K Markianos, ... Molecular psychiatry 18 (9), 1041-1048, 2013 | 87 | 2013 |
| An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects WD Fakhouri, F Rahimov, C Attanasio, EN Kouwenhoven, ... Human molecular genetics 23 (10), 2711-2720, 2014 | 74 | 2014 |
| A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function S Homma, JCJ Chen, F Rahimov, ML Beermann, K Hanger, GM Bibat, ... European journal of human genetics 20 (4), 404-410, 2012 | 74 | 2012 |
| GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? F Rahimov, LA Ribeiro, E de Miranda, A Richieri‐Costa, JC Murray American Journal of Medical Genetics Part A 140 (23), 2571-2576, 2006 | 64 | 2006 |