C. Wadelius

发表

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

William Stafford Noble, Nancy R. Zhang, Stephen C. J. Parker, 2007, Nature.

Nucleosomes are well positioned in exons and carry characteristic histone modifications.

Jan Komorowski, Robin Andersson, Stefan Enroth, 2009, Genome research.

Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes

M. Grabherr, J. Komorowski, C. Wadelius, 2018, Scientific Reports.

Maps of context-dependent putative regulatory regions and genomic signal interactions

Jan Komorowski, Klev Diamanti, Husen M. Umer, 2016, Nucleic acids research.

Pan-cancer analysis of whole genomes

Steven J. M. Jones, Nuno A. Fonseca, Icgc, 2020, Nature.

Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP

J. Komorowski, A. Ameur, C. Wadelius, 2009, Nucleic acids research.

Combinations of Histone Modifications Mark Exon Inclusion Levels

J. Komorowski, Stefan Enroth, C. Wadelius, 2012, PloS one.

A Significant Regulatory Mutation Burden at a High‐Affinity Position of the CTCF Motif in Gastrointestinal Cancers

J. Komorowski, C. Wadelius, K. Diamanti, 2016, Human mutation.

ZBED6, a Novel Transcription Factor Derived from a Domesticated DNA Transposon Regulates IGF2 Expression and Muscle Growth

Jacob D. Jaffe, T. Mikkelsen, A. Gnirke, 2009, PLoS biology.

Discovery and characterization of coding and non-coding driver mutations in more than 2,500 whole cancer genomes

Lucas Lochovsky, Donghoon Lee, Chris Sander, 2017, bioRxiv.

Monte Carlo feature selection for supervised classification.

J. Komorowski, Stefan Enroth, C. Wadelius, 2008, Bioinformatics.

Best’s vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene

C. Wadelius, S. Andréasson, L. Eksandh, 2001, Ophthalmic genetics.

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

J. Komorowski, C. Wadelius, Chanchal Kumar, 2020, Scientific Reports.

Combined burden and functional impact tests for cancer driver discovery using DriverPower

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2020, Nature Communications.

funMotifs: Tissue-specific transcription factor motifs

Husen M. Umer, J. Komorowski, C. Wadelius, 2019, bioRxiv.

Allele specific chromatin signals, 3D interactions, and motif predictions for immune and B cell related diseases

Ioana M. Lemnian, Jan Grau, J. Komorowski, 2019, Scientific Reports.

Allele-specific transcription factor binding in liver and cervix cells unveils many likely drivers of GWAS signals.

O. Wallerman, C. Wadelius, M. Cavalli, 2016, Genomics.

Different distribution of histone modifications in genes with unidirectional and bidirectional transcription and a role of CTCF and cohesin in directing transcription

J. Komorowski, C. Wadelius, S. Bornelöv, 2015, BMC Genomics.

Nucleosome regulatory dynamics in response to TGFβ

F. M. De La Vega, J. Komorowski, Stefan Enroth, 2014, Nucleic acids research.

Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls

C. Wadelius, L. Larsson, M. Jansson, 2003, Ophthalmic genetics.

Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival

C. Wadelius, N. Eriksson, P. Magnusson, 2019, EBioMedicine.

Genetic Determinants of Dabigatran Plasma Levels and Their Relation to Bleeding

S. Yusuf, M. Ezekowitz, S. Connolly, 2013, Circulation.

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

M. D'urso, C. Wadelius, A. Metspalu, 2002, European Journal of Human Genetics.

Integrative pathway enrichment analysis of multivariate omics data

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2020, Nature Communications.

Influence of adenosine triphosphate and ABCB1 (MDR1) genotype on the P-glycoprotein-dependent transfer of saquinavir in the dually perfused human placenta

O. Wallerman, C. Wadelius, J. Hakkola, 2008, Human & experimental toxicology.

Single nucleus transcriptomics data integration recapitulates the major cell types in human liver

C. Wadelius, K. Diamanti, M. Cavalli, 2020, Hepatology research : the official journal of the Japan Society of Hepatology.

Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2020, Communications Biology.

Expression and localization of bestrophin during normal mouse development.

C. Wadelius, N. Peachey, G. Hoppe, 2003, Investigative ophthalmology & visual science.

Pathway and network analysis of more than 2500 whole cancer genomes

Nuno A. Fonseca, Icgc, Gary D Bader, 2020, Nature Communications.

Integration of genome-wide of Stat3 binding and epigenetic modification mapping with transcriptome reveals novel Stat3 target genes in glioma cells.

J. Komorowski, O. Wallerman, C. Wadelius, 2014, Biochimica et biophysica acta.

ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer

J. Komorowski, O. Wallerman, C. Wadelius, 2013, BMC Medical Genomics.

Trisomy 4q syndrome: presentation of a new case and review of the literature.

C. Wadelius, L. Zech, K. Sjörs, 2002, Annales de genetique.

Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies

M. Metzker, C. Wadelius, A. Hutchinson, 1999, Human Genetics.

genes for common human disorders candidateacetylation reveal new aspects of promoter structure and Whole-genome maps of USF 1 and USF 2 binding and histone H 3 Material Supplemental

J. Komorowski, T. Gingeras, P. Kapranov, 2008 .

Analysis of 3 dimensional interactions in DNA and chromatin

C. Wadelius, 2010 .

Placental transfer of quetiapine in relation to P-glycoprotein activity

O. Wallerman, C. Wadelius, J. Hakkola, 2007, Journal of psychopharmacology.

Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases

J. Komorowski, C. Wadelius, Chanchal Kumar, 2019, Human Genomics.

Molecular studies of haemophilia B in Sweden

M. Blombäck, C. Wadelius, U. Pettersson, 1988, Human Genetics.

Polymorphisms in NAT2, CYP2D6, CYP2C19 and GSTP1 and their association with prostate cancer.

C. Wadelius, J. Johansson, C. Wolf, 1999, Pharmacogenetics.

Analysis of subcellular location of bestrophin in transfected RPE cell lines

C. Wadelius, F. Hallböök, R. Mayordomo, 2000 .

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.

C. Wadelius, U. Pettersson, G. Annéren, 1989, American journal of human genetics.

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.

C. Wadelius, K. Gustavson, M. Friis, 1997, American journal of medical genetics.

Hyperkalemic periodic paralysis

E. Hoffman, C. Wadelius, R. Conwit, 1993, Neurology.

Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity

C. Wadelius, C. Graff, T. Jerndal, 1995, Human Genetics.

A Multi-Omics Approach to Liver Diseases: Integration of Single Nuclei Transcriptomics with Proteomics and HiCap Bulk Data in Human Liver

M. Mann, J. Komorowski, C. Wadelius, 2020, Omics : a journal of integrative biology.

Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene

C. Wadelius, G. Annéren, A. Larsson, 1997, Human Genetics.

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome.

C. Wadelius, K. Gustavson, M. Pigg, 1999, Acta dermato-venereologica.

Analysis of the Glutathione S-transferase M1 gene using pyrosequencing and multiplex PCR--no evidence of association to glaucoma.

C. Wadelius, L. Larsson, M. Jansson, 2003, Experimental eye research.

The Sjögren-Larsson Syndrome gene is close to D17S805 as determined by linkage analysis and allelic association

J. Weissenbach, C. Wadelius, K. Gustavson, 1994, Nature Genetics.

No evidence of association between GT/CA-repeat polymorphism in the GLC1A gene promoter and primary open-angle or exfoliation glaucoma.

C. Wadelius, L. Larsson, A. Sjöstrand, 2002, Acta ophthalmologica Scandinavica.

Venous thrombosis: factor V G1691A genotyping related to APC resistance as measured by 2 methods

C. Wadelius, A. Siegbahn, A. Alderborn, 1997, European journal of haematology.

Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease

C. Wadelius, M. Rask-Andersen, Å. Johansson, 2019, Nature Medicine.

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

C. Wadelius, S. Kenwrick, A. Fryer, 1995, American journal of human genetics.

Common VKORC1 and GGCX polymorphisms associated with warfarin dose

S. Hunt, D. Bentley, K. Downes, 2005, The Pharmacogenomics Journal.

Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy.

S. Yusuf, M. Ezekowitz, S. Connolly, 2016, Pharmacogenomics.

Association of warfarin dose with genes involved in its action and metabolism

P. Deloukas, S. Bumpstead, R. McGinnis, 2006, Human Genetics.

Autoimmune Polyglandular Disease Type I

L. Peltonen, C. Wadelius, A. Palotie, 1993, European journal of human genetics : EJHG.

Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma

Kari Stefansson, Gudmar Thorleifsson, Hreinn Stefansson, 2007, Science.

Lamotrigine and toxic epidermal necrolysis

C. Wadelius, M. Wadelius, A. Rane, 1996, The Lancet.

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.

Jan Komorowski, Philipp Kapranov, Thomas R Gingeras, 2008, Genome research.

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

Jun Yu, Chen Hong, Ken Chen, 2020, Nature.

The mutation spectrum of the bestrophin protein – functional implications

C. Wadelius, O. Sandgren, T. Rosenberg, 1999, Human Genetics.

Progress in a genome scan for linkage in schizophrenia in a large Swedish kindred.

L. Bierut, A. Pakstis, C. Wadelius, 1994, American journal of medical genetics.

Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq

Jan Komorowski, Kevin J McKernan, Adam Ameur, 2009, Genome Biology.

Integrating the Genome and Epigenome in Human Disease

C. Wadelius, 2009 .

BIOINFORMATICS ORIGINAL PAPER doi:10.1093/bioinformatics/btm486 Data and text mining Monte Carlo

Jan Komorowski, Jacek Koronacki, Michal Draminski, 2022 .

Patterns of somatic structural variation in human cancer genomes

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2020, Nature.

Multifaceted regulation of hepatic lipid metabolism by YY1

J. Komorowski, C. Wadelius, K. Diamanti, 2021, Life Science Alliance.

Identification of the gene responsible for Best macular dystrophy

M. Metzker, C. Wadelius, C. Austin, 1998, Nature Genetics.

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene.

C. Wadelius, B. Ehinger, V. Ponjavic, 1999, Ophthalmic genetics.

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

H. Stefánsson, A. Sigurdsson, A. Jonasdottir, 2010, Nature Genetics.

Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing

Jan Komorowski, Stefan Enroth, Claes Wadelius, 2009, Nucleic acids research.

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2020, Nature Communications.

Detailed Functional Characterization of a Waist-Hip Ratio Locus in 7p15.2 Defines an Enhancer Controlling Adipocyte Differentiation

C. Wadelius, E. Ingelsson, E. Arner, 2019, iScience.

Centrotemporal spikes in families with rolandic epilepsy

C. Wadelius, U. Stephani, K. Tedroff, 1998, Neurology.

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

A. Chapelle, C. Wadelius, O. Mäkitie, 1993, Nature Genetics.

Cancer associated epigenetic transitions identified by genome-wide histone methylation binding profiles in human colorectal cancer samples and paired normal mucosa

L. Påhlman, J. Komorowski, Stefan Enroth, 2011, BMC Cancer.

Integrative pathway enrichment analysis of multivariate omics data

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2018, bioRxiv.

Transcription response in the TGF-beta

O. Wallerman, C. Wadelius, 2008 .

Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression

O. Wallerman, C. Wadelius, L. Rönnblom, 2016, Human Genetics.

Novel regulatory variant detected on the VKORC1 haplotype that is associated with warfarin dose.

C. Wadelius, N. Eriksson, M. Cavalli, 2016, Pharmacogenomics.

Mechanisms of p53-mediated Intrinsic and Extrinsic Tumor Suppression

C. Wadelius, G. Selivanova, Regina Elena, 2014 .

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

I. Dunham, J. Komorowski, Christoph M. Koch, 2009, The FEBS journal.

Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation.

C. Wadelius, G. Annéren, A. Sillén, 1998, American journal of medical genetics.

ORegAnno: an open-access community-driven resource for regulatory annotation

Obi L. Griffith, Steven J. M. Jones, Enrique Blanco, 2007, Nucleic Acids Res..

Prostate cancer associated with CYP17 genotype.

C. Wadelius, J. Johansson, S. Andersson, 1999, Pharmacogenetics.

Warfarin sensitivity related to CYP2C9, CYP3A5, ABCB1 (MDR1) and other factors

O. Wallerman, C. Wadelius, H. Melhus, 2004, The Pharmacogenomics Journal.

PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c

A. Ameur, Stefan Enroth, C. Wadelius, 2016, Nucleic acids research.

Binding sites for metabolic disease related transcription factors inferred at base pair resolution by chromatin immunoprecipitation and genomic microarrays.

Jan Komorowski, Ian Dunham, Kenneth Wester, 2005, Human molecular genetics.

Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough: a genome-wide association study in a Swedish population.

C. Wadelius, N. Eriksson, P. Magnusson, 2017, Pharmacogenomics.

scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation

C. Wadelius, M. Cavalli, C. Bergin, 2021, Scientific Reports.

Hemophilia B in a 46,XX female probably caused by non‐random X inactivation

C. Wadelius, M. Anvret, N. Egberg, 1993, Clinical genetics.

Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment

C. Wadelius, N. Eriksson, A. Syvänen, 2020, The Pharmacogenomics Journal.

Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in pathology and forensics.

C. Wadelius, P. Magnusson, U. Gyllensten, 1996, Genome research.

Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel

C. Wadelius, C. Graff, T. Jerndal, 1997, Human Genetics.

Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (norrbottnian type)

C. Wadelius, G. Annéren, N. Dahl, 1992, Prenatal diagnosis.

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren‐Larsson syndrome

C. Wadelius, C. Ayuso, C. Kraus, 1998, Human mutation.

First prenatal diagnosis by mutation analysis in a family with Sjögren–Larsson syndrome

C. Wadelius, G. Holmgren, A. Sillén, 1997, Prenatal diagnosis.

Integrative epigenomic and genomic analysis of malignant pheochromocytoma

J. Komorowski, Stefan Enroth, C. Wadelius, 2010, Experimental & Molecular Medicine.

SICTIN: Rapid footprinting of massively parallel sequencing data

Jan Komorowski, Robin Andersson, Claes Wadelius, 2010, BioData Mining.

Machine Learning-Based Analysis of Glioma Grades Reveals Co-Enrichment

J. Komorowski, C. Wadelius, F. Barrenäs, 2022, Cancers.

A strand specific high resolution normalization method for chip-sequencing data employing multiple experimental control measurements

Robin Andersson, Jan Komorowski, Claes R Andersson, 2012, Algorithms for Molecular Biology.

The Thioesterase ACOT1 as a Regulator of Lipid Metabolism in Type 2 Diabetes Detected in a Multi-Omics Study of Human Liver

C. Wadelius, K. Diamanti, M. Cavalli, 2021, Omics : a journal of integrative biology.

Organ-specific metabolic pathways distinguish prediabetes, type 2 diabetes, and normal tissues

M. Mann, J. Komorowski, C. Wadelius, 2021, bioRxiv.

Some microsatellites may act as novel polymorphic cis-regulatory elements through transcription factor binding.

C. Wadelius, Ellen Kindlund, M. Tammi, 2004, Gene.

In vitro analysis of DNA–protein interactions by proximity ligation

C. Wadelius, U. Landegren, S. Gústafsdóttir, 2007, Proceedings of the National Academy of Sciences.

Two polypyrimidine tracts in the nitric oxide synthase 2 gene: similar regulatory sequences with different properties

C. Wadelius, Á. Rada-Iglesias, G. Westin, 2010, Molecular Biology Reports.

Functional annotation of noncoding mutations in cancer

Husen M. Umer, J. Komorowski, C. Wadelius, 2021, Life Science Alliance.

Histone H3 lysine 27 trimethylation in adult differentiated colon associated to cancer DNA hypermethylation

L. Påhlman, J. Komorowski, Stefan Enroth, 2009, Epigenetics.

ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer

J. Komorowski, O. Wallerman, C. Wadelius, 2013, BMC Medical Genomics.

Butyrate mediates decrease of histone acetylation centered on transcription start sites and down-regulation of associated genes.

C. Langford, I. Dunham, J. Komorowski, 2007, Genome research.

A high resolution normalization strategy of chip-sequencing data using (multiple) experimental control measurements

Jan Komorowski, Robin Andersson, Mats Gustavsson, 2010 .

Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels

C. Wadelius, M. Cavalli, G. Pan, 2016, Lipids in Health and Disease.

Author Correction: Integrative pathway enrichment analysis of multivariate omics data

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2020, Nature Communications.

Linkage mapping of a severe X-linked mental retardation syndrome.

C. Wadelius, M. Sundvall, U. Pettersson, 1993, American journal of human genetics.

Evaluation of DNA-based diagnosis for haemophilia A.

M. Blombäck, C. Wadelius, U. Pettersson, 1991, Scandinavian journal of clinical and laboratory investigation.

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

C. Wadelius, C. Graff, G. Holmgren, 1992, Clinical genetics.

Genetic mapping using fluorescent quantification of allele frequencies in pooled DNA loaded by solid support

C. Wadelius, A. Persson, C. Graff, 1997, Clinical genetics.

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).

C. Wadelius, E. Stone, R. Mullins, 2007, Experimental eye research.

Expression of bestrophin‐1, the product of the VMD2 gene, modulates voltage‐dependent Ca2+ channels in retinal pigment epithelial cells

C. Wadelius, N. Peachey, R. Rosenthal, 2006, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

A model of best vitelliform macular dystrophy in rats.

C. Wadelius, N. Peachey, A. Marmorstein, 2004, Investigative ophthalmology & visual science.

Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids

C. Wadelius, C. Graff, G. Holmgren, 1997, Human Genetics.

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

C. Wadelius, C. Frennesson, S. Nilsson, 2014, Acta ophthalmologica.

Bestrophin modulates activity of L–type Ca2+ channels in RPE cells

C. Wadelius, N. Peachey, R. Rosenthal, 2004 .

Still no evidence for heterogeneity in Best's vitelliform macular dystrophy.

C. Wadelius, C. Graff, 1996, Journal of medical genetics.

Comprehensive molecular characterization of mitochondrial genomes in human cancers

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2017, bioRxiv.

Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p.

C. Wadelius, G. Annéren, R. Saalman, 2003, Annales de genetique.

Author Correction: Pan-cancer analysis of whole genomes

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2023, Nature.

Polymorphisms rs55710213 and rs56334587 regulate SCD1 expression by modulating HNF4A binding.

C. Wadelius, M. Cavalli, G. Pan, 2021, Biochimica et biophysica acta. Gene regulatory mechanisms.

Sex differences in oncogenic mutational processes

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2019, Nature Communications.

rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression

C. Wadelius, Chanchal Kumar, M. Cavalli, 2020, iScience.

Functional role of P‐glycoprotein in the human blood‐placental barrier

Kari Laine, Claes Wadelius, Mia Wadelius, 2005, Clinical pharmacology and therapeutics.

Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels

C. Wadelius, M. Cavalli, G. Pan, 2016, Lipids in Health and Disease.

Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes

M. Grabherr, J. Komorowski, C. Wadelius, 2018, Scientific Reports.

Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism

C. Wadelius, G. Annéren, A. Larsson, 2002, Human Genetics.

Lowe's oculocerebrorenal syndrome ‐ variation in lens changes in the carrier state

C. Wadelius, G. Annéren, P. Fagerholm, 1991, Acta ophthalmologica.

Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome

C. Wadelius, G. Holmgren, G. Ommen, 1989, Human Genetics.

Analysis of Rare Variants and Common Haplotypes in the Optineurin Gene in Swedish Glaucoma Cases

C. Wadelius, T. Rezaie, M. Sarfarazi, 2005, Ophthalmic genetics.

Different distribution of histone modifications in genes with unidirectional and bidirectional transcription and a role of CTCF and cohesin in directing transcription

J. Komorowski, C. Wadelius, S. Bornelöv, 2015, BMC Genomics.

Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2.

C. Wadelius, A. Alderborn, M. Pigg, 2004, Hereditas.

Achondroplasia in Sweden caused by the G1 138A mutation in FGFR3

C. Wadelius, A. Alderborn, M. Anvret, 1996, Acta paediatrica.

Genome-wide association study of liver enzyme elevation in rheumatoid arthritis patients starting methotrexate.

C. Wadelius, N. Eriksson, P. Hallberg, 2021, Pharmacogenomics.

Linkage analysis in properdin deficiency families: refined location in proximal Xp

C. Wadelius, A. Sjöholm, M. Sundvall, 1992, Clinical genetics.

Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene.

C. Wadelius, U. Pettersson, A. Larsson, 1993, Genomics.

The promoter of inducible nitric oxide synthase implicated in glaucoma based on genetic analysis and nuclear factor binding.

C. Wadelius, Á. Rada-Iglesias, M. Jansson, 2005, Molecular vision.

The Heart of the Matter - New Insights into the Genetics of Cardiomyopathy

C. Wadelius, 2000, Scandinavian Cardiovascular Journal.

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden

C. Wadelius, A. Sillén, S. Jagell, 1997, Human Genetics.

Genetic causes of male infertility.

C. Wadelius, 1998 .

Genetic prevention of hepatitis C virus‐induced liver fibrosis by allele‐specific downregulation of MERTK

O. Wallerman, C. Wadelius, M. Cavalli, 2016, Hepatology research : the official journal of the Japan Society of Hepatology.

Cancer associated epigenetic transitions identified by genome-wide histone methylation binding profiles in human colorectal cancer samples and paired normal mucosa

L. Påhlman, J. Komorowski, Stefan Enroth, 2011, BMC Cancer.

Allele specific chromatin signals, 3D interactions, and motif predictions for immune and B cell related diseases

Ioana M. Lemnian, Jan Grau, J. Komorowski, 2019, Scientific Reports.

Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype.

J. Korenberg, C. Wadelius, L. Zech, 1996, American journal of medical genetics.

Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression

O. Wallerman, C. Wadelius, L. Rönnblom, 2016, Human Genetics.

A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns

Nuno A. Fonseca, Benjamin J. Raphael, Allison P. Heath, 2020, Nature Communications.

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

Nuno A. Fonseca, Gary D Bader, Benjamin J. Raphael, 2020, Nature.

Monte Carlo Feature Selection for Supervised Classification: a Statistical Supplement

J. Komorowski, Stefan Enroth, C. Wadelius, 2022 .

Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy.

S. Yusuf, M. Ezekowitz, S. Connolly, 2016, Pharmacogenomics.

lobChIP: from cells to sequencing ready ChIP libraries in a single day

O. Wallerman, C. Wadelius, H. Nord, 2015, Epigenetics & Chromatin.

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

C. Wadelius, C. Frennesson, S. Nilsson, 2014, Acta ophthalmologica.

A SWEDISH FAMILY WITH BEST’S VITELLIFORM MACULAR DYSTROPHY (VMD). GENETIC ANALYSIS AND PHOTODYNAMIC TREATMENT (PDT) OF NEOVASCULARIZATION IN A YOUNG BOY.

C. Wadelius, C. Frennesson, S. Nilsson, 2004 .

New algorithm and ChIP-analysis identifies candidate functional SNPs

J. Komorowski, A. Ameur, C. Wadelius, 2008 .

Monte Carlo feature selection for supervised classification

J. Komorowski, Stefan Enroth, C. Wadelius, 2008, Bioinform..

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome.

C. Wadelius, M. Pigg, C. Braun‐Quentin, 1999, Acta dermato-venereologica.

A strand specific high resolution normalization method for chip-sequencing data employing multiple experimental control measurements

Claes R. Andersson, J. Komorowski, Stefan Enroth, 2012, Algorithms for Molecular Biology.

Chromosome 17. In: Cooper DN (ed.) Nature Encyclopedia of the Human Genome

C. Wadelius, 2003 .

A regulatory element associated to NAFLD in the promoter of DIO1 controls LDL-C, HDL-C and triglycerides in hepatic cells

C. Wadelius, M. Cavalli, C. Castillejo-López, 2024, Lipids in health and disease.