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Authors whose works are in public domain in at least one jurisdiction

List of works by Kathleen Claes

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

scientific article published on 01 January 2004

A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with Systemic Sclerosis in a large European cohort.

scientific article

A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort

scientific article published on 27 December 2010

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

scientific article

Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits.

scientific article published on 23 March 2018

Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm.

scientific article published on 28 November 2017

Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes.

scientific article published on March 2009

An abnormally glycosylated isoform of erythropoietin in hemangioblastoma is associated with polycythemia.

scientific article published on 19 September 2014

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

scientific article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay

scientific article published on 25 January 2017

Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases

scientific article published on 11 October 2012

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

scientific article published on 24 September 2018

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

scientific article published on March 2004

BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer

scientific article

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

Breast-Cancer Risk in Families With Mutations in PALB2

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

scientific article published on 09 December 2011

Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers.

scientific article published in October 2004

Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition

scientific article published on December 2002

Chromosomal radiosensitivity of breast cancer with a CHEK2 mutation

scientific article

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Combined effect of polymorphisms in Rad51 and Xrcc3 on breast cancer risk and chromosomal radiosensitivity

scientific article published in July 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

scientific article

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

article

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

scientific article published on 6 May 2016

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era.

scientific article

Decoding NF1 Intragenic Copy-Number Variations.

scientific article published on 16 July 2015

Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei

scientific article published on 8 November 2017

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

scientific article published on July 2003

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.

scientific article published on 28 February 2012

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

scientific article

Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR

scientific article published on 20 September 2017

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

scientific article published on 07 September 2018

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

scientific article published on 10 July 2018

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

scientific article published on March 2015

Focus on 16p13.3 Locus in Colon Cancer

scientific article published on 29 July 2015

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

scientific article published on 16 June 2020

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant

scientific article

Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach

scientific article published on October 1999

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

scientific article published on 21 December 2017

Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden

scientific article published on 30 July 2009

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association

scientific article published on 8 September 2009

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

scientific article published on 14 July 2015

High anti-double-stranded DNA antibodies and progressive multifocal leukoencephalopathy in a patient with systemic lupus erythematosus

scientific article

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

scientific article

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

scientific article published on 20 August 2012

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

scientific article published on 17 May 2016

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

scientific article published on 14 November 2013

Leiden Open Variation Database of the MUTYH gene

scientific article

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

scientific article published on 8 February 2011

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

scientific article published on 09 October 2013

Microsatellite instability in sporadic colon carcinomas has no independent prognostic value in a Belgian study population

article

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene

scientific article published on 09 October 2020

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors

scientific article published on 17 January 2012

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

scientific article

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

scientific article published on 13 March 2012

Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G

scientific article

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no.

scientific article published in January 1999

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

scientific article published on 30 March 2015

Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population

scientific article

Non Coding RNA Molecules as Potential Biomarkers in Breast Cancer.

scientific article published on January 2015

Objective assessment of nasality in flemish adults with neurofibromatosis type 1

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene

scientific article published on 21 May 2014

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene

scientific article

Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk.

scientific article published on 21 April 2007

Polymorphisms in nonhomologous end-joining genes associated with breast cancer risk and chromosomal radiosensitivity

scientific article published in February 2008

Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients.

scientific article published on 29 August 2012

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

scientific article

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing

scientific article

Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the PTEN gene

scientific article published on 01 April 2011

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

scientific article published on 29 July 2012

Radiation-induced damage to normal tissues after radiotherapy in patients treated for gynecologic tumors: association with single nucleotide polymorphisms in XRCC1, XRCC3, and OGG1 genes and in vitro chromosomal radiosensitivity in lymphocytes.

scientific article published in July 2005

Radiation-induced myosin IIA expression stimulates collagen type I matrix reorganization.

scientific article published on 3 June 2013

Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms

scientific article published on 10 April 2008

Rapid detection of VHL exon deletions using real-time quantitative PCR.

scientific article published in January 2005

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

scientific article

Shared heritability and functional enrichment across six solid cancers

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

scientific article published on 20 May 2008

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

scientific article published on 01 March 2006

TGFbeta1 polymorphisms and late clinical radiosensitivity in patients treated for gynecologic tumors.

scientific article published in July 2006

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

scientific article published on 10 May 2017

The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations

article

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The Zebrafish as an Emerging Model to Study DNA Damage in Aging, Cancer and Other Diseases

scientific article published on 01 January 2018

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)

scientific article published on September 1, 2011

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.

scientific article

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants

scientific article published on 01 January 2019

Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives

scientific article

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