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F. Rahimov · SciRah

Researcher profile · Semantic Scholar

F. Rahimov

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F. Rahimov — researcher profile on SciRah

h-index: 28
Works: 62
Citations: 9,659

Most-cited papers

FinnGen provides genetic insights from a well-phenotyped isolated population
M. Kurki, J. Karjalainen, P. Palta, Timo P. Sipilä +164 more
2023Nature3,914 citations Open access
Semantic Scholar
New insights into the genetic etiology of Alzheimer’s disease and related dementias
C. Bellenguez, F. Küçükali, I. Jansen, L. Kleineidam +496 more
2022Nature Genetics1,984 citations Open access
Semantic Scholar
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
F. Rahimov, M. Marazita, A. Visel, M. Cooper +18 more
2008Nature Genetics442 citations Open access
Semantic Scholar
Genetics of Nonsyndromic Orofacial Clefts
F. Rahimov, A. Jugessur, J. Murray
2011The Cleft Palate-Craniofacial Journal275 citations Open access
Semantic Scholar
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
K. Karczewski, M. Solomonson, Katherine R. Chao, J. Goodrich +41 more
2022Cell Genomics266 citations Open access
Semantic Scholar
Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate
A. R. Vieira, J. R. Avila, S. Daack-Hirsch, E. Dragan +14 more
2005PLoS Genetics261 citations Open access
Semantic Scholar
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
H. Jabara, Steven E. Boyden, J. Chou, N. Ramesh +24 more
2015Nature Genetics255 citations Open access
Semantic Scholar
The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.
F. Rahimov, L. Kunkel
2013Journal of Cell Biology236 citations Open access
Semantic Scholar
Variation in the HLA-G promoter region influences miscarriage rates.
C. Ober, C. Aldrich, I. Chervoneva, C. Billstrand +3 more
2003American Journal of Human Genetics235 citations Open access
Semantic Scholar
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.
Takako I. Jones, Jennifer C. J. Chen, F. Rahimov, S. Homma +8 more
2012Human Molecular Genetics184 citations Open access
Semantic Scholar
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
Rubina Tabassum, Joel T. Rämö, P. Ripatti, J. Koskela +255 more
2019Nature Communications167 citations Open access
Semantic Scholar
MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.
M. Alexander, J. Casar, N. Motohashi, N. Vieira +12 more
2014Journal of Clinical Investigation154 citations Open access
Semantic Scholar
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, R. T. Lie, Allen J. Wilcox +4 more
2008Genetic Epidemiology114 citations Open access
Semantic Scholar
CD82 is a marker for prospective isolation of human muscle satellite cells and is linked to muscular dystrophies
M. Alexander, Anete Rozkalne, A. Colletta, J. Spinazzola +7 more
2016Cell Stem Cell102 citations Open access
Semantic Scholar
Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population
M. Kurki, J. Karjalainen, P. Palta, Timo P. Sipilä +164 more
2023Nature95 citations Open access
Semantic Scholar
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers
F. Rahimov, O. King, D. Leung, G. Bibat +3 more
2012Proceedings of the National Academy of Sciences of the United States of America93 citations Open access
Semantic Scholar
Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD)
G. Stadler, F. Rahimov, O. King, Jennifer C. J. Chen +5 more
2013Nature Structural &Molecular Biology78 citations Open access
Semantic Scholar
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
K. Schmitz-Abe, Szymon J. Ciesielski, P. Schmidt, D. Campagna +24 more
2015Blood75 citations Open access
Semantic Scholar
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
W. Fakhouri, F. Rahimov, Catia Attanasio, Evelyn N. Kouwenhoven +13 more
2014Human Molecular Genetics71 citations Open access
Semantic Scholar
Comparative RNA Editing in Autistic and Neurotypical Cerebella
A. Eran, J. B. Li, Kayla Vatalaro, Jillian McCarthy +8 more
2012Molecular Psychiatry69 citations Open access
Semantic Scholar
A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function
S. Homma, Jennifer C. J. Chen, F. Rahimov, M. Beermann +6 more
2011European Journal of Human Genetics66 citations Open access
Semantic Scholar
GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?
F. Rahimov, L. Ribeiro, E. de Miranda, A. Richieri-Costa +1 more
2006American Journal of Medical Genetics. Part A57 citations
Semantic Scholar
Human skeletal muscle xenograft as a new preclinical model for muscle disorders.
Yuanfan Zhang, O. King, F. Rahimov, Takako I. Jones +7 more
2014Human Molecular Genetics55 citations Open access
Semantic Scholar
Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor.
F. Rahimov, O. King, Leigh C. Warsing, R. Powell +3 more
2011Physiological Genomics54 citations Open access
Semantic Scholar
Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease
N. Palmer, J. Silvester, Jessica J. Lee, Andrew Beam +10 more
2019PLoS ONE49 citations Open access
Semantic Scholar
Emerging preclinical animal models for FSHD
A. Lek, F. Rahimov, P. Jones, L. Kunkel
2015Trends in Molecular Medicine45 citations Open access
Semantic Scholar
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells
Erik L. Bao, Satish K. Nandakumar, Xiaotian Liao, A. Bick +335 more
2020Nature44 citations Open access
Semantic Scholar
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2
S. Mitsuhashi, Steven E. Boyden, E. Estrella, Takako I. Jones +8 more
2013Neuromuscular Disorders35 citations Open access
Semantic Scholar
High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene
F. Rahimov, Pekka Nieminen, P. Kumari, E. Juuri +24 more
2024Nature Communications22 citations Open access
Semantic Scholar
Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes
K. Karczewski, M. Solomonson, Katherine R. Chao, J. Goodrich +41 more
2021medRxiv21 citations Open access
Semantic Scholar
Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency.
M. Heeney, D. Guo, L. De Falco, D. Campagna +15 more
2018Blood21 citations Open access
Semantic Scholar
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences
J. Ideozu, Meng-Zhen Liu, B. Riley-Gillis, Sri R. Paladugu +8 more
2024Genome Medicine18 citations Open access
Semantic Scholar
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
E. Sliz, J. Tyrmi, N. Rahmioglu, K. Zondervan +323 more
2023Nature Communications18 citations Open access
Semantic Scholar
Major Genetic Risk Factors for Dupuytren's Disease Are Inherited From Neandertals
Richard Ågren, S. Patil, Xiang Zhou, A. Palotie +325 more
2023Molecular biology and evolution17 citations Open access
Semantic Scholar
Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis
A. Pakuła, A. Lek, J. Widrick, H. Mitsuhashi +10 more
2018Human Molecular Genetics17 citations Open access
Semantic Scholar
Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations
V. Salo, J. Määttä, E. Sliz, A. Palotie +332 more
2023medRxiv15 citations Open access
Semantic Scholar
Common Diseases in Clinical Cohorts - Not Always What They Seem.
F. Rahimov, B. Jacobs, John Lee, Naim A. Mahi +11 more
2025New England Journal of Medicine13 citations
Semantic Scholar
Monoallelic TYROBP deletion is a novel risk factor for Alzheimer’s disease
H. Martiskainen, R. Willman, P. Harju, S. Heikkinen +353 more
2025Molecular Neurodegeneration13 citations Open access
Semantic Scholar
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole-exome sequences
Justin E. Ideozu, Meng-Zhen Liu, B. Riley-Gillis, Sri R. Paladugu +8 more
2023medRxiv11 citations Open access
Semantic Scholar
NTHL1 is a recessive cancer susceptibility gene
Anna K. Nurmi, L. Pelttari, J. Kiiski, Sofia Khan +333 more
2023Scientific Reports11 citations Open access
Semantic Scholar
A FinnGen pilot clinical recall study for Alzheimer’s disease
V. Julkunen, C. Schwarz, Juho Kalapudas, M. Hallikainen +325 more
2023medRxiv7 citations Open access
Semantic Scholar
Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes
K. Karczewski, M. Solomonson, Katherine R. Chao, J. Goodrich +40 more
20224 citations
Semantic Scholar
High incidence and regional distribution of cleft palate in Finns are associated with a functional variant in an IRF6 enhancer
F. Rahimov, P. Nieminen, Priyanka Kumari, E. Juuri +12 more
20214 citations Open access
Semantic Scholar
Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty
Jonathan K. L. Mak, C. Qin, M. Krüger, Anna Kuukka +323 more
2025Nature Aging3 citations Open access
Semantic Scholar
A genome-wide CRISPR screen identifies the TNRC18 gene locus as a regulator of inflammatory signaling
F. Rahimov, Sujana Ghosh, Sakina M. Petiwala, Mary Schmidt +21 more
2025Nature Communications3 citations Open access
Semantic Scholar
Functional characterization of a single nucleotide polymorphism associated with Alzheimer’s disease in a hiPSC-based neuron model
Lindsay R Stolzenburg, S. Esmaeeli, Ameya Sadguru Kulkarni, E. Murphy +9 more
2023PLoS ONE3 citations Open access
Semantic Scholar
High incidence and geographic distribution of cleft palate cases in Finland are associated with a regulatory variant in IRF6
F. Rahimov, P. Nieminen, P. Kumari, E. Juuri +26 more
2024medRxiv2 citations Open access
Semantic Scholar
A genome-wide CRISPR Screening identifies targets that drive Tolerogenic Dendritic Cells
Xiao-Guang Li, Liang Chen, Tiankai Han, Megha Suresh +6 more
2026bioRxiv1 citations
Semantic Scholar
Genetic architecture of lumbar spinal stenosis
V. Salo, J. Määttä, J. Takala, A. Heikkilä +335 more
2026Nature Communications1 citations Open access
Semantic Scholar
Genetic liability to psoriasis predicts severe disease outcomes
J. Saklatvala, S. Lessard, M. Teder-Laving, Laurent F. Thomas +434 more
2025Genome Medicine1 citations Open access
Semantic Scholar

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