Claes Wadelius

The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

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How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (1)

• Nucleosome regulatory dynamics in response to TGFβ.
  2014 L1 59/100

1 assessed by us (0 reproduced) · 243 not yet assessed — every PubMed paper on record, linked below.

• Gain-of-function enhancer variant near <i>KCNB1</i> causes familial ST-depression syndrome ↗

  European Heart Journal · 2025 · PMID 40208226
  not yet assessed
• A regulatory element associated to NAFLD in the promoter of DIO1 controls LDL-C, HDL-C and triglycerides in hepatic cells ↗

  Lipids in Health and Disease · 2024 · PMID 38365720
  not yet assessed
• Author Correction: Integration of whole-body [18F]FDG PET/MRI with non-targeted metabolomics can provide new insights on tissue-specific insulin resistance in type 2 diabetes ↗

  Scientific Reports · 2024 · PMID 39609490
  not yet assessed
• Author Correction: Pan-cancer analysis of whole genomes ↗

  Nature · 2023 · PMID 36697834
  not yet assessed
• Author Correction: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes ↗

  Nature · 2023 · PMID 36697832
  not yet assessed
• Author Correction: The repertoire of mutational signatures in human cancer ↗

  Nature · 2023 · PMID 36697836
  not yet assessed
• Author Correction: The evolutionary history of 2,658 cancers ↗

  Nature · 2023 · PMID 36697833
  not yet assessed
• Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing ↗

  Nature Genetics · 2023 · PMID 36944733
  not yet assessed
• Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition ↗

  Nature Genetics · 2023 · PMID 36944736
  not yet assessed
• Author Correction: Patterns of somatic structural variation in human cancer genomes ↗

  Nature · 2023 · PMID 36697835
  not yet assessed
• Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers ↗

  Nature Genetics · 2023 · PMID 36944732
  not yet assessed
• Author Correction: Genomic basis for RNA alterations in cancer ↗

  Nature · 2023 · PMID 36697831
  not yet assessed
• Author Correction: The landscape of viral associations in human cancers ↗

  Nature Genetics · 2023 · PMID 36944734
  not yet assessed
• Author Correction: Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer ↗

  Nature Genetics · 2023 · PMID 36944735
  not yet assessed
• Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes ↗

  Nature Biotechnology · 2023 · PMID 36944844
  not yet assessed
• scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation ↗

  Scientific Reports · 2022 · PMID 35388090
  not yet assessed
• Organ-specific metabolic pathways distinguish prediabetes, type 2 diabetes, and normal tissues ↗

  Cell Reports Medicine · 2022 · PMID 36198307
  not yet assessed
• Machine Learning-Based Analysis of Glioma Grades Reveals Co-Enrichment ↗

  Cancers · 2022 · PMID 35205761
  not yet assessed
• Author Correction: A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns ↗

  Nature Communications · 2022 · PMID 36481665
  not yet assessed
• Author Correction: Pathway and network analysis of more than 2500 whole cancer genomes ↗

  Nature Communications · 2022 · PMID 36481610
  not yet assessed
• Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours ↗

  Nature Communications · 2022 · PMID 36481612
  not yet assessed
• Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer ↗

  Nature Communications · 2022 · PMID 36481818
  not yet assessed
• Author Correction: High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations ↗

  Nature Communications · 2022 · PMID 36481652
  not yet assessed
• Author Correction: Integrative pathway enrichment analysis of multivariate omics data ↗

  Nature Communications · 2022 · PMID 36481658
  not yet assessed
• Author Correction: Inferring structural variant cancer cell fraction ↗

  Nature Communications · 2022 · PMID 36481724
  not yet assessed
• Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower ↗

  Nature Communications · 2022 · PMID 36481739
  not yet assessed
• Author Correction: Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig ↗

  Nature Communications · 2022 · PMID 36482170
  not yet assessed
• Multifaceted regulation of hepatic lipid metabolism by YY1 ↗

  Life Science Alliance · 2021 · PMID 34099540
  not yet assessed
• The Thioesterase <i>ACOT1</i> as a Regulator of Lipid Metabolism in Type 2 Diabetes Detected in a Multi-Omics Study of Human Liver ↗

  OMICS A Journal of Integrative Biology · 2021 · PMID 34520261
  not yet assessed
• Genome-Wide Association Study of Liver Enzyme Elevation in Rheumatoid Arthritis Patients Starting Methotrexate ↗

  Pharmacogenomics · 2021 · PMID 34521259
  not yet assessed
• Functional annotation of noncoding mutations in cancer ↗

  Life Science Alliance · 2021 · PMID 34282050
  not yet assessed
• Polymorphisms rs55710213 and rs56334587 regulate SCD1 expression by modulating HNF4A binding ↗

  Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · 2021 · PMID 34171462
  not yet assessed
• A non-coding cancer mutation disrupting an HNF4α binding motif affects an enhancer regulating genes associated to the progression of liver cancer ↗

  Experimental Oncology · 2021 · PMID 33785712
  not yet assessed
• Organ-specific metabolic pathways distinguish prediabetes, type 2 diabetes and normal tissues ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• Organ-Specific Metabolic Pathways Distinguish Prediabetes, Type 2 Diabetes and Normal Tissues ↗

  SSRN Electronic Journal · 2021
  not yet assessed
• scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• The repertoire of mutational signatures in human cancer ↗

  Nature · 2020 · PMID 32025018
  not yet assessed
• Pan-cancer analysis of whole genomes ↗

  Nature · 2020 · PMID 32025007
  not yet assessed
• The evolutionary history of 2,658 cancers ↗

  Nature · 2020 · PMID 32025013
  not yet assessed
• Patterns of somatic structural variation in human cancer genomes ↗

  Nature · 2020 · PMID 32025012
  not yet assessed
• Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing ↗

  Nature Genetics · 2020 · PMID 32025003
  not yet assessed
• Analyses of non-coding somatic drivers in 2,658 cancer whole genomes ↗

  Nature · 2020 · PMID 32025015
  not yet assessed
• Comprehensive molecular characterization of mitochondrial genomes in human cancers ↗

  Nature Genetics · 2020 · PMID 32024997
  not yet assessed
• Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition ↗

  Nature Genetics · 2020 · PMID 32024998
  not yet assessed
• Genomic basis for RNA alterations in cancer ↗

  Nature · 2020 · PMID 32025019
  not yet assessed
• The landscape of viral associations in human cancers ↗

  Nature Genetics · 2020 · PMID 32025001
  not yet assessed
• Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer ↗

  Nature Genetics · 2020 · PMID 32024999
  not yet assessed
• A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns ↗

  Nature Communications · 2020 · PMID 32024849
  not yet assessed
• Divergent mutational processes distinguish hypoxic and normoxic tumours ↗

  Nature Communications · 2020 · PMID 32024819
  not yet assessed
• Genomic footprints of activated telomere maintenance mechanisms in cancer ↗

  Nature Communications · 2020 · PMID 32024817
  not yet assessed
• Sex differences in oncogenic mutational processes ↗

  Nature Communications · 2020 · PMID 32859912
  not yet assessed
• Pathway and network analysis of more than 2500 whole cancer genomes ↗

  Nature Communications · 2020 · PMID 32024854
  not yet assessed
• High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations ↗

  Nature Communications · 2020 · PMID 32024823
  not yet assessed
• Combined burden and functional impact tests for cancer driver discovery using DriverPower ↗

  Nature Communications · 2020 · PMID 32024818
  not yet assessed
• Inferring structural variant cancer cell fraction ↗

  Nature Communications · 2020 · PMID 32024845
  not yet assessed
• Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples ↗

  Nature Communications · 2020 · PMID 32958763
  not yet assessed
• Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig ↗

  Nature Communications · 2020 · PMID 32024834
  not yet assessed
• A Multi-Omics Approach to Liver Diseases: Integration of Single Nuclei Transcriptomics with Proteomics and HiCap Bulk Data in Human Liver ↗

  OMICS A Journal of Integrative Biology · 2020 · PMID 32181701
  not yet assessed
• Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment ↗

  The Pharmacogenomics Journal · 2020 · PMID 32080354
  not yet assessed
• rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression ↗

  iScience · 2020 · PMID 31928966
  not yet assessed
• Single nucleus transcriptomics data integration recapitulates the major cell types in human liver ↗

  Hepatology Research · 2020 · PMID 33119937
  not yet assessed
• Butler enables rapid cloud-based analysis of thousands of human genomes ↗

  Nature Biotechnology · 2020 · PMID 32024987
  not yet assessed
• Integration of whole-body [18F]FDG PET/MRI with non-targeted metabolomics can provide new insights on tissue-specific insulin resistance in type 2 diabetes ↗

  Scientific Reports · 2020 · PMID 32433479
  not yet assessed
• Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples ↗

  Nature Communications · 2020 · PMID 33257764
  not yet assessed
• Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease ↗

  Nature Medicine · 2019 · PMID 31501611
  not yet assessed
• Allele specific chromatin signals, 3D interactions, and motif predictions for immune and B cell related diseases ↗

  Scientific Reports · 2019 · PMID 30804403
  not yet assessed
• Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival ↗

  EBioMedicine · 2019 · PMID 30711515
  not yet assessed
• Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes ↗

  Scientific Reports · 2019 · PMID 31273253
  not yet assessed
• Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases ↗

  Human Genomics · 2019 · PMID 31036066
  not yet assessed
• Detailed Functional Characterization of a Waist-Hip Ratio Locus in 7p15.2 Defines an Enhancer Controlling Adipocyte Differentiation ↗

  iScience · 2019 · PMID 31557715
  not yet assessed
• funMotifs: Tissue-specific transcription factor motifs ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• Author Correction: Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes ↗

  Scientific Reports · 2019 · PMID 31776441
  not yet assessed
• Integration of whole-body PET/MRI with non-targeted metabolomics provides new insights into insulin sensitivity of various tissues

  2019
  not yet assessed
• Single Nuclei Transcriptome Analysis of Human Liver with Integration of Proteomics and Capture Hi-C Bulk Tissue Data

  2019
  not yet assessed
• Additional file 7: of Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases ↗

  Figshare · 2019
  not yet assessed
• Additional file 10: of Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases ↗

  Figshare · 2019
  not yet assessed
• Additional file 5: of Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases ↗

  Figshare · 2019
  not yet assessed
• Additional file 9: of Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases ↗

  Figshare · 2019
  not yet assessed
• Additional file 8: of Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases ↗

  Figshare · 2019
  not yet assessed
• Additional file 6: of Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases ↗

  Figshare · 2019
  not yet assessed
• Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type-2 diabetes ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2018
  not yet assessed
• Functional annotation of noncoding mutations identifies candidate regulatory aberrations in cancer

  2018
  not yet assessed
• Genetic Variants Associated with Angiotensin-Converting Enzyme Inhibitor-Induced Cough: A Genome-Wide Association Study in a Swedish Population ↗

  Pharmacogenomics · 2017 · PMID 28084903
  not yet assessed
• Discovery and characterization of coding and non-coding driver mutations in more than 2,500 whole cancer genomes ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2017
  not yet assessed
• Regulatory Variants Other Than VKORC1 rs9923231 May Explain The Effect on Warfarin Dose ↗

  Clinical Therapeutics · 2017
  not yet assessed
• Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression ↗

  Human Genetics · 2016 · PMID 26993500
  not yet assessed
• A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal Cancers ↗

  Human Mutation · 2016 · PMID 27174533
  not yet assessed
• PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c ↗

  Nucleic Acids Research · 2016 · PMID 27932482
  not yet assessed
• Genetic prevention of hepatitis C virus‐induced liver fibrosis by allele‐specific downregulation of <i>MERTK</i> ↗

  Hepatology Research · 2016 · PMID 27577861
  not yet assessed
• Allele-specific transcription factor binding in liver and cervix cells unveils many likely drivers of GWAS signals ↗

  Genomics · 2016 · PMID 27126307
  not yet assessed
• Genetic Determinants of Warfarin Maintenance Dose and Time in Therapeutic Treatment Range: A RE-LY Genomics Substudy ↗

  Pharmacogenomics · 2016 · PMID 27488176
  not yet assessed
• Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels ↗

  Lipids in Health and Disease · 2016 · PMID 26817450
  not yet assessed
• Maps of context-dependent putative regulatory regions and genomic signal interactions ↗

  Nucleic Acids Research · 2016 · PMID 27625394
  not yet assessed
• Novel Regulatory Variant Detected on the <i>VKORC1</i> Haplotype that is Associated with Warfarin Dose ↗

  Pharmacogenomics · 2016 · PMID 26847243
  not yet assessed
• A distinct mutation pattern at CTCF motifs in cancer ↗

  Faculty of 1000 Research Ltd · 2016
  not yet assessed
• Different distribution of histone modifications in genes with unidirectional and bidirectional transcription and a role of CTCF and cohesin in directing transcription ↗

  BMC Genomics · 2015 · PMID 25881024
  not yet assessed
• lobChIP: from cells to sequencing ready ChIP libraries in a single day ↗

  Epigenetics & Chromatin · 2015 · PMID 26195988
  not yet assessed
• Additional file 2. of lobChIP: from cells to sequencing ready ChIP libraries in a single day ↗

  Figshare · 2015
  not yet assessed
• Additional file 3. of lobChIP: from cells to sequencing ready ChIP libraries in a single day ↗

  Figshare · 2015
  not yet assessed
• Additional file 3. of lobChIP: from cells to sequencing ready ChIP libraries in a single day ↗

  Figshare · 2015
  not yet assessed
• Additional file 4. of lobChIP: from cells to sequencing ready ChIP libraries in a single day ↗

  Figshare · 2015
  not yet assessed
• Additional file 4. of lobChIP: from cells to sequencing ready ChIP libraries in a single day ↗

  Figshare · 2015
  not yet assessed
• Additional file 1. of lobChIP: from cells to sequencing ready ChIP libraries in a single day ↗

  Figshare · 2015
  not yet assessed
• Additional file 1. of lobChIP: from cells to sequencing ready ChIP libraries in a single day ↗

  Figshare · 2015
  not yet assessed
• Integration of genome-wide of Stat3 binding and epigenetic modification mapping with transcriptome reveals novel Stat3 target genes in glioma cells ↗

  Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · 2014 · PMID 25111868
  not yet assessed
• Nucleosome regulatory dynamics in response to TGF 

  Nucleic Acids Research · 2014 · PMID 24771338
  L1 59/100
• Combinations of histone modifications control exon expression

  2014
  not yet assessed
• Profiling individual protein complexes by proximity-dependent barcoding

  2014
  not yet assessed
• Mechanisms of p53-mediated Intrinsic and Extrinsic Tumor Suppression

  2014
  not yet assessed
• Genetic Determinants of Dabigatran Plasma Levels and Their Relation to Bleeding ↗

  Circulation · 2013 · PMID 23467860
  not yet assessed
• Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven‐year follow‐up of photodynamic treatment of a young boy with choroidal neovascularization ↗

  Acta Ophthalmologica · 2013 · PMID 23617333
  not yet assessed
• ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer ↗

  BMC Medical Genomics · 2013 · PMID 24206787
  not yet assessed
• Integration of genome-wide of Stat3 binding and epigenetic modifications with transcriptome allowed identification of novel Stat3 target genes in glioma cells

  2013
  not yet assessed
• Combinations of Histone Modifications Mark Exon Inclusion Levels ↗

  PLoS ONE · 2012 · PMID 22242188
  not yet assessed
• A strand specific high resolution normalization method for chip-sequencing data employing multiple experimental control measurements ↗

  Algorithms for Molecular Biology · 2012 · PMID 22248020
  not yet assessed
• Genetic determinants of warfarin response, efficacy and safety : a RE-LY genomics substudy

  2012
  not yet assessed
• Cancer associated epigenetic transitions identified by genome-wide histone methylation binding profiles in human colorectal cancer samples and paired normal mucosa ↗

  BMC Cancer · 2011 · PMID 22011431
  not yet assessed
• Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma ↗

  Nature Genetics · 2010 · PMID 20835238
  not yet assessed
• Integrative epigenomic and genomic analysis of malignant pheochromocytoma ↗

  Experimental & Molecular Medicine · 2010 · PMID 20534969
  not yet assessed
• SICTIN: Rapid footprinting of massively parallel sequencing data ↗

  BioData Mining · 2010 · PMID 20707885
  not yet assessed
• A high resolution normalization strategy of chip-sequencing data using (multiple) experimental control measurements

  2010
  not yet assessed
• Nucleosome landscape in HepG2 cells in relation to NFY, HNF4a and FOXA2 binding sites

  2010
  not yet assessed
• Strand-based mixture modeling of nucleosome positioning in HepG2 cells and their regulatory dynamics in response to TGF-beta treatment

  2010
  not yet assessed
• Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP ↗

  Nucleic Acids Research · 2009 · PMID 19451166
  not yet assessed
• Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing ↗

  Nucleic Acids Research · 2009 · PMID 19822575
  not yet assessed
• Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq ↗

  Genome biology · 2009 · PMID 19919681
  not yet assessed
• Histone H3 lysine 27 trimethylation in adult differentiated colon associated to cancer DNA hypermethylation ↗

  Epigenetics · 2009 · PMID 19276669
  not yet assessed
• Novel genes in cell cycle control and lipid metabolism with dynamically regulated binding sites for sterol regulatory element‐binding protein 1 and RNA polymerase II in HepG2 cells detected by chromatin immunoprecipitation with microarray detection ↗

  FEBS Journal · 2009 · PMID 19292868
  not yet assessed
• Two polypyrimidine tracts in the nitric oxide synthase 2 gene: similar regulatory sequences with different properties ↗

  Molecular Biology Reports · 2009 · PMID 19669598
  not yet assessed
• ZBED6, a Novel Transcription Factor Derived from a Domesticated DNA Transposon Regulates IGF2 Expression and Muscle Growth ↗

  PLoS Biology · 2009 · PMID 20016685
  not yet assessed
• Nucleosomes are well positioned in exons and carry characteristic histone modifications ↗

  Genome Research · 2009 · PMID 19687145
  not yet assessed
• Influence of adenosine triphosphate and ABCB1 (MDR1) genotype on the P-glycoprotein-dependent transfer of saquinavir in the dually perfused human placenta ↗

  Human & Experimental Toxicology · 2008 · PMID 18480151
  not yet assessed
• Whole-genome maps of USF1 and USF2 binding and histone H3 acetylation reveal new aspects of promoter structure and candidate genes for common human disorders ↗

  Genome Research · 2008 · PMID 18230803
  not yet assessed
• New algorithm and ChIP-analysis identifies candidate functional SNPs

  Proceedings of the National Academy of Sciences · 2008
  not yet assessed
• Integrating the Genome and Epigenome in Human Disease ↗

  Epigenomics · 2008
  not yet assessed
• Transcription response in the TGF-beta

  2008
  not yet assessed
• Genome-wide localization of hepatocytic nuclear factors HNF4α, FOXA2 and GABPα reveals many distal regulatory elements and bindings at novel TSSs.

  2008
  not yet assessed
• Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project ↗

  Nature · 2007 · PMID 17571346
  not yet assessed
• Common Sequence Variants in the <i>LOXL1</i> Gene Confer Susceptibility to Exfoliation Glaucoma ↗

  Science · 2007 · PMID 17690259
  not yet assessed
• Monte Carlo feature selection for supervised classification ↗

  Bioinformatics · 2007 · PMID 18048398
  not yet assessed
• ORegAnno: an open-access community-driven resource for regulatory annotation ↗

  Nucleic Acids Research · 2007 · PMID 18006570
  not yet assessed
• Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2) ↗

  Experimental Eye Research · 2007 · PMID 17477921
  not yet assessed
• <i>In vitro</i> analysis of DNA–protein interactions by proximity ligation ↗

  Proceedings of the National Academy of Sciences · 2007 · PMID 17360610
  not yet assessed
• Placental transfer of quetiapine in relation to P-glycoprotein activity ↗

  Journal of Psychopharmacology · 2007 · PMID 17259208
  not yet assessed
• Butyrate mediates decrease of histone acetylation centered on transcription start sites and down-regulation of associated genes ↗

  Genome Research · 2007 · PMID 17567991
  not yet assessed
• Genome-wide gene regulatory networks for USF1 and USF2 in liver cells - implications for familial combined hyperlipidemia ↗

  Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) · 2007
  not yet assessed
• Association of warfarin dose with genes involved in its action and metabolism ↗

  Human Genetics · 2006 · PMID 17048007
  not yet assessed
• Analysis of Donor Eyes From a Best Vitelliform Macular Dystrophy Patient, Homozygous for the Bestrophin W93C Mutation

  2006
  not yet assessed
• Characterizing Sequence Specificity of DNA Binding Proteins by Proximity Ligation

  2006
  not yet assessed
• Chromosome 17 ↗

  Encyclopedia of Life Sciences · 2006
  not yet assessed
• Common VKORC1 and GGCX polymorphisms associated with warfarin dose ↗

  The Pharmacogenomics Journal · 2005 · PMID 15883587
  not yet assessed
• Expression of bestrophin‐1, the product of the VMD2 gene, modulates voltage‐dependent Ca ²⁺ channels in retinal pigment epithelial cells ↗

  The FASEB Journal · 2005 · PMID 16282372
  not yet assessed
• Functional role of P-glycoprotein in the human blood-placental barrier ↗

  Clinical Pharmacology & Therapeutics · 2005 · PMID 16084847
  not yet assessed
• Binding sites for metabolic disease related transcription factors inferred at base pair resolution by chromatin immunoprecipitation and genomic microarrays ↗

  Human Molecular Genetics · 2005 · PMID 16221759
  not yet assessed
• The promoter of inducible nitric oxide synthase implicated in glaucoma based on genetic analysis and nuclear factor binding. ↗

  PubMed · 2005 · PMID 16288199
  not yet assessed
• Analysis of Rare Variants and Common Haplotypes in the<i>Optineurin</i>Gene in Swedish Glaucoma Cases ↗

  Ophthalmic Genetics · 2005
  not yet assessed
• Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases. ↗

  PubMed · 2005 · PMID 16020311
  not yet assessed
• A Model of Best Vitelliform Macular Dystrophy in Rats ↗

  Investigative Ophthalmology & Visual Science · 2004 · PMID 15452084
  not yet assessed
• Some microsatellites may act as novel polymorphic cis-regulatory elements through transcription factor binding ↗

  Gene · 2004 · PMID 15474298
  not yet assessed
• Bestrophin modulates activity of L–type Ca2+ channels in RPE cells

  Investigative Ophthalmology & Visual Science · 2004
  not yet assessed
• A SWEDISH FAMILY WITH BEST’S VITELLIFORM MACULAR DYSTROPHY (VMD). GENETIC ANALYSIS AND PHOTODYNAMIC TREATMENT (PDT) OF NEOVASCULARIZATION IN A YOUNG BOY.

  Investigative Ophthalmology & Visual Science · 2004
  not yet assessed
• Detailed Genetic and Physical Mapping in the Sjögren-Larsson Syndrome Gene Region in 17p11.2 ↗

  Hereditas · 2004 · PMID 9760873
  not yet assessed
• Bestrophin is not a Chloride Channel.

  2004
  not yet assessed
• Decreasing genetic evidence that Gluthation S-transferase M1 is predisposing to glaucoma. Response to ‘Glutathione S-transferase M1 and its implications in glaucoma pathenogenesis: a controversial matter’ by A. Izzotti and S.C. SaccàDOI of the original article: 10.1016/S0014-4835(03)00109-X ↗

  Experimental Eye Research · 2004
  not yet assessed
• Decreasing genetic evidence that glutathion S-transferase M1 is predisposing to glaucoma.

  Experimental Eye Research · 2004
  not yet assessed
• Warfarin sensitivity related to CYP2C9, CYP3A5, ABCB1 (MDR1) and other factors ↗

  The Pharmacogenomics Journal · 2003 · PMID 14676821
  not yet assessed
• Expression and Localization of Bestrophin during Normal Mouse Development ↗

  Investigative Ophthalmology & Visual Science · 2003 · PMID 12882816
  not yet assessed
• Analysis of the Glutathione S-transferase M1 gene using pyrosequencing and multiplex PCR–no evidence of association to glaucoma ↗

  Experimental Eye Research · 2003 · PMID 12873455
  not yet assessed
• Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls ↗

  Ophthalmic Genetics · 2003 · PMID 12789574
  not yet assessed
• Evaluation of the Oculomedin gene in the etiology of primary open angle and exfoliative glaucoma. ↗

  PubMed · 2003 · PMID 12655282
  not yet assessed
• Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1 ↗

  Hereditas · 2003 · PMID 14641475
  not yet assessed
• Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p ↗

  Annales de Génétique · 2003 · PMID 12818527
  not yet assessed
• Correlation of Bestrophin Protein Expression in the Basolateral Plasma Membrane of the Mouse RPE with the Onset of Photoreceptor Activity in the Retina

  Investigative Ophthalmology & Visual Science · 2003
  not yet assessed
• Effects of Overexpression of Bestrophin and Best Macular Dystrophy Associated Mutants of Bestrophin on the Rat DC-ERG

  Investigative Ophthalmology & Visual Science · 2003
  not yet assessed
• Chromosome 17. In: Cooper DN (ed.) Nature Encyclopedia of the Human Genome

  2003
  not yet assessed
• The ABCA4 2588G&gt;C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe ↗

  European Journal of Human Genetics · 2002 · PMID 11973624
  not yet assessed
• Trisomy 4q syndrome: presentation of a new case and review of the literature ↗

  Annales de Génétique · 2002 · PMID 12119211
  not yet assessed
• Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism ↗

  Human Genetics · 2002 · PMID 11935320
  not yet assessed
• No evidence of association between GT/CA‐repeat polymorphism in the GLC1A gene promoter and primary open‐angle or exfoliation glaucoma ↗

  Acta Ophthalmologica Scandinavica · 2002 · PMID 12190780
  not yet assessed
• Characterization of VMD2 Transcripts in Human and Transcription Levels in Mice

  Investigative Ophthalmology & Visual Science · 2002
  not yet assessed
• Mouse Vmd2 expression and bestrophin localization during normal development

  2002
  not yet assessed
• Best’s vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene ↗

  Ophthalmic Genetics · 2001 · PMID 11449320
  not yet assessed
• Analysis of subcellular location of bestrophin in transfected RPE cell lines ↗

  Gene Function & Disease · 2000
  not yet assessed
• The Heart of the Matter - New Insights into the Genetics of Cardiomyopathy ↗

  Scandinavian Cardiovascular Journal · 2000 · PMID 11214004
  not yet assessed
• Analysis of subcellular location of bestrophin in transfected RPE cell lines ↗

  Gene Function & Disease · 2000
  not yet assessed
• Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies ↗

  Human Genetics · 1999 · PMID 10453731
  not yet assessed
• Polymorphisms in NAT2, CYP2D6, CYP2C19 and GSTP1 and their association with prostate cancer ↗

  Pharmacogenetics · 1999 · PMID 10471065
  not yet assessed
• Prostate cancer associated with CYP17 genotype ↗

  Pharmacogenetics · 1999 · PMID 10591544
  not yet assessed
• The mutation spectrum of the bestrophin protein - functional implications ↗

  Human Genetics · 1999 · PMID 10394929
  not yet assessed
• Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n) ↗

  Clinical & Experimental Immunology · 1999 · PMID 10540191
  not yet assessed
• Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene ↗

  Ophthalmic Genetics · 1999 · PMID 10617923
  not yet assessed
• Prostate cancer associated with CYP17 genotype ↗

  Pharmacogenetics and Genomics · 1999
  not yet assessed
• [Revolutionary progress is to be expected when health care will be marked by genetics]. ↗

  PubMed · 1999 · PMID 10575857
  not yet assessed
• Identification of the gene responsible for Best macular dystrophy ↗

  Nature Genetics · 1998 · PMID 9662395
  not yet assessed
• Centrotemporal spikes in families with rolandic epilepsy ↗

  Neurology · 1998 · PMID 9855510
  not yet assessed
• Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome ↗

  Human Mutation · 1998 · PMID 9829906
  not yet assessed
• Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation ↗

  American Journal of Medical Genetics · 1998 · PMID 9805135
  not yet assessed
• Linkage analysis excludes familial congenital hypothyroidism from chromosome 21. ↗

  PubMed · 1998 · PMID 9894163
  not yet assessed
• Genetic causes of male infertility.

  Scandinavian Journal of Urology and Nephrology · 1998
  not yet assessed
• Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation ↗

  American Journal of Medical Genetics · 1998
  not yet assessed
• Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families ↗

  American Journal of Medical Genetics · 1997 · PMID 9066893
  not yet assessed
• Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids ↗

  Human Genetics · 1997 · PMID 9439653
  not yet assessed
• Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene ↗

  Human Genetics · 1997 · PMID 9048917
  not yet assessed
• A missense mutation in the FALDH gene identified in Sj�gren-Larsson syndrome patients originating from the northern part of Sweden ↗

  Human Genetics · 1997 · PMID 9254849
  not yet assessed
• First prenatal diagnosis by mutation analysis in a family with Sjögren–Larsson syndrome ↗

  Prenatal Diagnosis · 1997 · PMID 9467812
  not yet assessed
• Venous thrombosis: factor V G1691A genotyping related to APC resistance as measured by 2 methods ↗

  European Journal Of Haematology · 1997 · PMID 9186532
  not yet assessed
• Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel ↗

  Human Genetics · 1997 · PMID 9402956
  not yet assessed
• Genetic mapping using fluorescent quantification of allele frequencies in pooled DNA loaded by solid support ↗

  Clinical Genetics · 1997 · PMID 9137878
  not yet assessed
• [A new mutation causes achondrodysplasia. A simple DNA analysis confirms the diagnosis]. ↗

  PubMed · 1997 · PMID 9053676
  not yet assessed
• Lamotrigine and toxic epidermal necrolysis ↗

  The Lancet · 1996 · PMID 8855897
  not yet assessed
• Molecular analysis of chromosome 21 in a patient with a phenotype of down syndrome and apparently normal karyotype ↗

  American Journal of Medical Genetics · 1996 · PMID 8826436
  not yet assessed
• Achondroplasia in Sweden caused by the G1 138A mutation in FGFR3 ↗

  Acta Paediatrica · 1996 · PMID 9001669
  not yet assessed
• Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene. ↗

  PubMed · 1996 · PMID 8985730
  not yet assessed
• Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in pathology and forensics. ↗

  Genome Research · 1996 · PMID 8973911
  not yet assessed
• Still no evidence for heterogeneity in Best's vitelliform macular dystrophy. ↗

  Journal of Medical Genetics · 1996 · PMID 8818958
  not yet assessed
• Still no evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.

  1996
  not yet assessed
• Harry Angelman, mannen bakom syndromet.

  Läkartidningen/Läkartidningen · 1996
  not yet assessed
• [Angelman syndrome. A developmental disorder with important significance for understanding genetic imprinting]. ↗

  PubMed · 1996 · PMID 8656802
  not yet assessed
• New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. ↗

  PubMed · 1995 · PMID 7762552
  not yet assessed
• Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity ↗

  Human Genetics · 1995 · PMID 7649543
  not yet assessed
• [From rune stones to genes. The cause of Sjögren-Larsson syndrome is encircled]. ↗

  PubMed · 1995 · PMID 7637470
  not yet assessed
• The Sjögren-Larsson Syndrome gene is close to D17S805 as determined by linkage analysis and allelic association ↗

  Nature Genetics · 1994 · PMID 7894487
  not yet assessed
• Fine Mapping of Best's Macular Dystrophy Localizes the Gene in Close Proximity to but Distinct from the D11S480/ROM1 Loci ↗

  Genomics · 1994 · PMID 7713492
  not yet assessed
• Progress in a genome scan for linkage in schizophrenia in a large Swedish kindred ↗

  American Journal of Medical Genetics · 1994 · PMID 7909991
  not yet assessed
• Exclusion of linkage between hypokalemic periodic paralysis and a candidate region in 1q31-32 suggests genetic heterogeneity

  The American Journal of Human Genetics · 1994
  not yet assessed
• Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis ↗

  Nature Genetics · 1993 · PMID 7981754
  not yet assessed
• Linkage mapping of a severe X-linked mental retardation syndrome. ↗

  PubMed · 1993 · PMID 8503440
  not yet assessed
• Galactosemia Caused by a Point Mutation That Activates Cryptic Donor Splice Site in the Galactose-1-phosphate Uridyltransferase Gene ↗

  Genomics · 1993 · PMID 8406510
  not yet assessed
• Hyperkalemic periodic paralysis ↗

  Neurology · 1993 · PMID 8385748
  not yet assessed
• Hemophilia B in a 46,XX female probably caused by non‐random X inactivation ↗

  Clinical Genetics · 1993 · PMID 8096443
  not yet assessed
• Deletion screening of Sri Lankan Duchenne muscular dystrophy patients using the polymerase chain reaction ↗

  Annals of Tropical Paediatrics · 1993 · PMID 7681651
  not yet assessed
• Autoimmune Polyglandular Disease Type I ↗

  European Journal of Human Genetics · 1993 · PMID 8055325
  not yet assessed
• LINKAGE ANALYSES TO ASSIGN THE LOCUS FOR AUTOIMMUNE POLYGLANDULAR DISEASE TYPE I ↗

  Pediatric Research · 1993
  not yet assessed
• The gene for Best's macular dystrophy is located at 11q13 in a Swedish family ↗

  Clinical Genetics · 1992 · PMID 1395087
  not yet assessed
• Linkage analysis in properdin deficiency families: refined location in proximal Xp ↗

  Clinical Genetics · 1992 · PMID 1516231
  not yet assessed
• Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (norrbottnian type) ↗

  Prenatal Diagnosis · 1992 · PMID 1508850
  not yet assessed
• Molecular genetic studies in families with benign epilepsy and rolandic spikes ↗

  Pediatric Neurology · 1992
  not yet assessed
• Molecular studies of genes and mutations in families with genetic disorders

  1992
  not yet assessed
• Lowe's oculocerebrorenal syndrome ‐ variation in lens changes in the carrier state ↗

  Acta Ophthalmologica · 1991 · PMID 2028753
  not yet assessed
• Multiplex PCR excludes Duchenne muscular dystrophy in a twin pregnancy ↗

  Clinical Genetics · 1991 · PMID 2070552
  not yet assessed
• Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis. ↗

  PubMed · 1989 · PMID 2912070
  not yet assessed
• Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome ↗

  Human Genetics · 1989 · PMID 2567272
  not yet assessed
• Molecular studies of haemophilia B in Sweden ↗

  Human Genetics · 1988 · PMID 2848757
  not yet assessed
• [Molecular genetic diagnostics--experiences from Uppsala]. ↗

  PubMed · 1988 · PMID 3290601
  not yet assessed