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Author Details

Fedik Rahimov
AbbVie Inc.
2003
27
23
PMIDPaper TitleJournal TitlePublished Year
36829046Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population.Nature2023
37751459Functional characterization of a single nucleotide polymorphism associated with Alzheimer's disease in a hiPSC-based neuron model.PLoS One2023
36653562FinnGen provides genetic insights from a well-phenotyped isolated population.Nature2023
30307508Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.Hum Mol Genet2019
31618209Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease.PLoS One2019
29895660Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency.Blood2018
27641304CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies.Cell Stem Cell2016
26642240A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.Nat Genet2016
25801126Emerging preclinical animal models for FSHD.Trends Mol Med2015
26491070Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.Blood2015
24442519An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.Hum Mol Genet2014
24789910MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.J Clin Invest2014
24452336Human skeletal muscle xenograft as a new preclinical model for muscle disorders.Hum Mol Genet2014
22869036Comparative RNA editing in autistic and neurotypical cerebella.Mol Psychiatry2013
24128691Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.Neuromuscul Disord2013
23644600Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy.Nat Struct Mol Biol2013
23671309The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.J Cell Biol2013
21545302Genetics of nonsyndromic orofacial clefts.Cleft Palate Craniofac J2012
22988124Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers.Proc Natl Acad Sci U S A2012
22798623Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.Hum Mol Genet2012
22108603A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.Eur J Hum Genet2012
21266502Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor.Physiol Genomics2011
18278815Genetic 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.Genet Epidemiol2008
18836445Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.Nat Genet2008
17096318GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?Am J Med Genet A2006
16327884Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.PLoS Genet2005
12721954Variation in the HLA-G promoter region influences miscarriage rates.Am J Hum Genet2003
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Collaborators

Louis M Kunkel
Boston Children's Hospital and Harvard Medical School
Co-authored papers 14
Charles P Emerson
Co-authored papers 6
Robert R Graham
Genentech Inc.
Co-authored papers 2
Kaisa Silander
Co-authored papers 2
Jaakko Kaprio
Co-authored papers 2
Lili Milani
Co-authored papers 2
Julie Hunkapiller
Genentech Inc.
Co-authored papers 2
Sahar V Mozaffari
The University of Chicago
Co-authored papers 2
Andres Metspalu
Co-authored papers 2
Tõnu Esko
Co-authored papers 2
Aarno Palotie
Co-authored papers 2
Andrea Ganna
Institute for Molecular Medicine Finland (FIMM), University of Helsinki
Co-authored papers 2
Mark J Daly
Massachusetts General Hospital
Co-authored papers 2
Mary L Marazita
Center for Craniofacial and Dental Genetics, University of Pittsburgh
Co-authored papers 2
Johanna Schleutker
Institute of Biomedicine, University of Turku
Co-authored papers 2
Reedik Mägi
Co-authored papers 2
Priit Palta
Co-authored papers 2
Dirk S Paul
Co-authored papers 2
Markus Perola
Co-authored papers 2
Elmo Saarentaus
Co-authored papers 2
Mari Nelis
Co-authored papers 2
Johannes Kettunen
Co-authored papers 2
Jacob C Ulirsch
Co-authored papers 2
Hilary K Finucane
Co-authored papers 2
Isaac S Kohane
Harvard Medical School
Co-authored papers 2
Taru Tukiainen
Co-authored papers 2
Len A Pennacchio
Lawrence Berkeley National Laboratory
Co-authored papers 2
Samuli Ripatti
Co-authored papers 2
Aki S Havulinna
Co-authored papers 2
Veikko Salomaa
Co-authored papers 2
Release 1.2