Fedik Rahimov
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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
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
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
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
Genetics of nonsyndromic orofacial clefts
F Rahimov, A Jugessur, JC Murray
The Cleft palate-craniofacial journal 49 (1), 73-91, 2012
Cellular and molecular mechanisms underlying muscular dystrophy
F Rahimov, LM Kunkel
Journal of Cell Biology 201 (4), 499-510, 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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Articles 1–20