Research Explorer

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Researcher

Kathleen Claes

Publications & Research Data

Awards & Distinctions

302 Results

2026

ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum

Kevin Van CompernolleJacques Van HuysseKathleen ClaesEllen DenayerMarie BexAnnick Van den Bruel

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2025

Cracking rare disorders : a new minimally invasive RNA-seq protocol

Laurenz De CockErika D'haenensLies VantommeLynn BackersAude BeyensKathleen ClaesGriet De ClercqRobin de PutterCandy KumpsNika Schuermans et al.

A1 Journal Article in NPJ GENOMIC MEDICINE

EMT‐associated bias in the Parsortix® system observed with pancreatic cancer cell lines

Nele VandenbusscheRenske ImschootBéatrice LintermansLode DenolfJoachim TaminauCharlotte FieuwsGeert BerxKris GevaertKathleen Claes

A1 Journal Article in MOLECULAR ONCOLOGY

Evaluation of the AmplideX® SMA Plus Kit for comprehensive SMN1/SMN2 analysis in Spinal Muscular Atrophy

Liesbeth ClaeysAnnelies De JaegherJennifer AnckaertXenia LeroyTjoïlina ReyniersMelek YorukElfride De BaereKathleen Claes

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Exploring cfDNA copy number profiles to monitor tumor dynamics in pancreatic adenocarcinoma

Nele VandenbusscheLUIS ABREU DE CARVALHOGreet WiemeBram PartonBéatrice LintermansSuzane Moura RibeiroAnne HoorensKaren GeboesFrederik BerrevoetKathleen Claes

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Family-level impact of germline genetic testing in childhood cancer : a multi family member interview analysis

Sophie Van HoyweghenKathleen ClaesRobin de PutterClaire E. WakefieldMarie Van PouckeMarieke Van SchoorsSabine HellemansLesley Verhofstadt

A1 Journal Article in CANCERS

Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene

Manon BouckaertFilip Van Den BroeckM. GhazviniAlfredo Dueñas ReyHanne LenaertsAnnelies DheedeneKathleen ClaesElfride De BaereBart LeroyJulie De Zaeytijd et al.

A1 Journal Article in STEM CELL RESEARCH

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

Daniel R. BarnesJonathan P. TyrerJoe DennisGoska LeslieManjeet K. BollaMichael LushAmber M. AeiltsKristiina AittomaekiNadine AndrieuIrene L. Andrulis et al.

U Journal Article in NPJ GENOMIC MEDICINE

Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond

Elien BeylsEvi DuthooLynn BackersKarlien Claes[missing] RAPID CliniciansTessa KerreB. LambrechtLevi HosteB. MeertensT. Van Genechten et al.

A1 Journal Article in JOURNAL OF CLINICAL IMMUNOLOGY

Multiple European children born with cancer predisposition following recurrent sperm donation from a mosaic TP53 carrier

Edwige KasperRobin de PutterSvetlana LagercrantzMette JorgensenVerena Steinke-LangeStephanie Baert-DesurmontVirginie BubienByrjalsen AnnaKathleen ClaesMargaux Clement Le Choismier et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Prediction of surgical resectability after FOLFIRINOX chemotherapy for borderline resectable and locally advanced pancreatic cancer (PeRFormanCe) : a multicenter prospective trial-trial protocol

LUIS ABREU DE CARVALHOFilip GryspeerdtWim CeelenKaren GeboesSuzane Moura RibeiroAnne HoorensNele VandenbusscheKathleen ClaesClarisse LecluyseAliaksandr Anisau et al.

A1 Journal Article in BMC SURGERY

Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish

Michiel VanhooydonckElyne De NeefHanna De SaffelAnnekatrien BoelAndy WillaertBert CallewaertKathleen Claes

Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish

Michiel VanhooydonckElyne De NeefHanna De SaffelAnnekatrien BoelAndy WillaertBert CallewaertKathleen Claes

A1 Journal Article in LAB ANIMAL

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

Evi DuthooElien BeylsLynn BackersThorkell GudjónssonPeiquan HuangLeander JonckheereSebastian RiemannBram PartonLikun DuVeronique Debacker et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

2024

Advances in CRISPR-mediated knock-in of disease- and cancer-related variants in zebrafish

Elyne De NeefMichiel VanhooydonckHanna De SaffelBéatrice LintermansAndy WillaertBert CallewaertAnne VralKathleen Claes

Advances in CRISPR-mediated knock-in of disease-related variants in zebrafish

Elyne De NeefMichiel VanhooydonckHanna De SaffelBéatrice LintermansAndy WillaertBert CallewaertAnne VralKathleen Claes

Asymmetric kidney cysts in a patient with negative family history

Othmane MohibSuzanne VanhauwaertLisanne De BoeckKathleen ClaesPeter Janssens

Editorial material

Closing the gap: overcoming the challenges of RPGR ORF15 sequencing, a target for gene therapy of X-linked retinitis pigmentosa

Stijn Van de SompeleMarieke De BruyneMattias Van HeetveldeToon RosseelBart LeroyJulie De ZaeytijdBrecht GuillemynKathleen ClaesKim De LeeneerMiriam Bauwens et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

EMQN best practice guideline update for genetic testing in hereditary breast and ovarian cancer

Stacey HumeTrudi McDevittMiranda DurkieNorbert ArnoldGeorge BurghelSamantha ButlerKathleen ClaesPeter LoganRachell RobinsonKatie Sheils et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

Trudi McDevittMiranda DurkieNorbert ArnoldGeorge J. BurghelSamantha ButlerKathleen ClaesPeter LoganRachel RobinsonKatie SheilsNicola Wolstenholme et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer (vol 32, pg 479, 2024)

Trudi McDevittMiranda DurkieNorbert ArnoldGeorge J. BurghelSamantha ButlerKathleen ClaesPeter LoganRachel RobinsonKatie SheilsNicola Wolstenholme et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Enhancing molecular diagnosis of neurofibromatosis type 1: cultured melanocytes unveil somatic mosaicism in patients screened negative in blood samples

Annelies De JaegherSuzanne VanhauwaertNathalie GoderisHélène VerhaegheAude BeyensKathleen Claes

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding molecular and clinical phenotype of Seckel syndrome : ATRIP deficient patient reveals novel insights in ATR signalling pathway

Kathleen ClaesLynn BackersElien BeylsEvi DuthooBram PartonVeronique DebackerKim De LeeneerMarieke De BruyneLevi HosteAns Baeyens et al.

Fishing for personalized ovarian cancer therapy

Charlotte FieuwsKathleen ClaesKoen Van de VijverHannelore Denys

Gebruik van farmacogenetische tests in België

Yolyce BourgeoisElena CostaCarl DevosFrank HulstaertJanis LuytenSien OmbeletNancy ThiryKathleen Claes

Harnessing cDNA analysis to enhance variant classification in cancer predisposition genes

Liesbeth ClaeysSuzanne VanhauwaertAnnelies De JaegherKim De LeeneerBram PartonIlse CoeneMartine De BleeckereKatia De PauwArne De VisscherElke D'Haese et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of potentially actionable genetic variants in epithelial ovarian cancer : a retrospective cohort study

Charlotte FieuwsJoni Van der MeulenKristiaan ProesmansEmiel De JaeghereSiebe LoontiensJo Van DorpePhilippe TummersHannelore DenysKoen Van de VijverKathleen Claes

A1 Journal Article in NPJ PRECISION ONCOLOGY

Immunogenomics solves missing heritability and ends the diagnostic odyssey in RAG1-SCID

Marieke De BruyneLore PottieStijn Van de SompeleNancy De CabooterDelfien BogaertLevi HosteToon RosseelKim De LeeneerVictoria BordonJana Neirinck et al.

In memory of Ludwine Messiaen, Ph.D. (1956-2024)

Elfride De BaereEric LegiusReiner A. VeitiaKathleen Claes

Knock-in of disease-related variants in the zebrafish model organism

Michiel VanhooydonckElyne De NeefHanna De SaffelAnnekatrien BoelKathleen ClaesAndy WillaertBert Callewaert

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations

Eva VanbelleghemTim Van DammeAude BeyensSofie SymoensKathleen ClaesJulie De BackerIlse MeerschautFloris VanommeslaegheSigurd DelangheJenneke van den Ende et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

Eva VanbelleghemTim Van DammeAude BeyensSofie SymoensKathleen ClaesJulie De BackerIlse MeerschautFloris VanommeslaegheSigurd E. DelangheJenneke van den Ende et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Prime editing outperforms optimized homology-directed repair as a tool for knock-in generation in zebrafish

Elyne De NeefMichiel VanhooydonckHanna De SaffelAnne VralAndy WillaertBert CallewaertKathleen Claes

Prime editing outperforms optimized homology-directed repair as a tool for knock-in generation in zebrafish

Elyne De NeefMichiel VanhooydonckKathleen ClaesBert CallewaertHanna De SaffelBéatrice LintermansAndy WillaertAnne Vral

The clinical use of exome sequencing to diagnose PCD patients

Lore PottieSofie SymoensElfride De BaereKathleen Claes

The psychological impact of genetic testing in childhood cancer : a systematic review

Sophie Van HoyweghenKathleen ClaesRobin de PutterClaire WakefieldMarieke Van SchoorsSabine HellemansLesley Verhofstadt

A1 Journal Article in PSYCHO-ONCOLOGY

Towards improved Parsortix® efficiency for circulating tumor cell enrichment in pancreatic cancer

Nele VandenbusscheBéatrice LintermansTijs MerckaertCharlotte FieuwsKris GevaertKathleen Claes

Zebrafish avatars : toward functional precision medicine in low-grade serous ovarian cancer

Charlotte FieuwsJan Willem BekBram PartonElyne De NeefOlivier De WeverMilena HoorneMarta F. EstradaJo Van DorpeHannelore DenysKoen Van de Vijver et al.

A1 Journal Article in CANCERS

2023

A preclinical platform for assessing long-term drug efficacy exploiting mechanically tunable scaffolds colonized by a three-dimensional tumor microenvironment

Elly De VlieghereKoen Van de VijverEva BlondeelNathan CarpentierRouba GhobeiraJarne PauwelsSebastian RiemannManon MinsartCharlotte FieuwsJohanna Mestach et al.

A1 Journal Article in BIOMATERIALS RESEARCH

Assessing recovery rates of mesenchymal and epithelial pancreatic tumor cells using the Parsortix system

Nele VandenbusscheBram PartonTijs MerckaertCharlotte FieuwsLUIS ABREU DE CARVALHOFrederik BerrevoetKris GevaertKathleen Claes

Atm deficient zebrafish model reveals conservation of the tumour suppressor function and a role in fertility

Jeroen VierstraeteCharlotte FieuwsDavid CreytensJo Van DorpeAndy WillaertAnne VralKathleen Claes

Editorial material

ATRIP-deficient patient expands molecular and clinical spectrum of Seckel syndrome

Lynn BackersSimon J. TavernierMattias Van HeetveldeBram PartonRia RoelandtEvi DuthooElien BeylsMarieke De BruyneKim De LeeneerAns Baeyens et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

CLINICAL CHARACTERISTICS AND OUTCOME OF PATIENTS WITH ATYPICAL HEMOLYTIC UREMIC SYNDROME: BELGIUM COHORT OF THE GLOBAL AHUS REGISTRY

Johan Van de WalleLaurent WeekersKathleen ClaesBroeders NiluferEvelien SnauwaertDjalila MekahliEric GoffinCollard LaureGodfroid NathalieAdams Brigitte et al.

U Journal Article in PEDIATRIC NEPHROLOGY

Clinical presentation of sporadic and hereditary pheochromocytoma/paraganglioma

Sofia Maria Lider BurciulescuCaren RandonFréderic DuprezWouter HuvenneDavid CreytensKathleen ClaesRobin de PutterGuy T'SjoenCorin BadiuBruno Lapauw

A2 Journal Article in ENDOCRINE ONCOLOGY

ENIGMA CHEK2gether Project : a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk

Lenka StolarovaPetra KleiblovaPetra ZemankovaBarbora StastnaMarketa JanatovaJana SoukupovaMaria Isabel AchatzChristine AmbrosoneParaskevi ApostolouBanu K. Arun et al.

A1 Journal Article in CLINICAL CANCER RESEARCH

ENIGMA effort to standardize the classification of variants disrupting splicing of in-frame exons using BRCA1 exon 18 as an example

Joanna Domenech-VivoHelene TubeufRomy L. S. MesmanAurelie DrouetMelanie GirardiMaria Concepcion Alonso-CerezoDiana BaralleNadia Boutry-KryzaDave BunyanHelen J. Byers et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects

Aude BeyensCharlotte LietaerKathleen ClaesElfride De BaereMarleen GoeteynBob LerutHannes SyrynOlivier VanakkerJoni Van der MeulenLieve Vanwalleghem et al.

A1 Journal Article in CLINICAL GENETICS

Implementation of dihydropyrimidine dehydrogenase deficiency testing in Europe

M. de WithA. SadlonE. CecchinV. HaufroidF. ThomasM. JoergerR.H.N. van SchaikR.H.J. MathijssenC.R. LargiadèrKathleen Claes et al.

A1 Journal Article in ESMO OPEN

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Denise G. O’MahonySusan J. RamusMelissa C. SoutheyNicola S. MeagherAndreas HadjisavvasEsther M. JohnUte HamannEvgeny N. ImyanitovIrene L. AndrulisPriyanka Sharma et al.

A1 Journal Article in BRITISH JOURNAL OF CANCER

2022

Application of an ultrasensitive NGS-based blood test for the diagnosis of early-stage lung cancer : sensitivity, a hurdle still difficult to overcome

Malaïka Van der LindenBram Van GaeverLennart RamanKarim VermaelenIngel DemedtsVeerle SurmontUlrike HimpeYolande LievensLiesbeth FerdinandeFranceska Dedeurwaerdere et al.

A1 Journal Article in CANCERS

Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases

Josephine LantoineAnne BrysseVinciane DidebergKathleen ClaesSofie SymoensWim CouckeValerie BenoitSonia RomboutMartine De RyckeSara Seneca et al.

Breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers using polygenic risk scores

Daniel R BarnesValentina SilvestriGoska LeslieLesley McGuffogJoe DennisXin YangJulian AdlardBjarni A AgnarssonMunaza AhmedKristiina Aittomäki et al.

A1 Journal Article in JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach

M ThomassenRLS MesmanTVO HansenM MenendezM RossingA Esteban-SánchezE TudiniT TörngrenMT ParsonsIS Pedersen et al.

A1 Journal Article in HUMAN MUTATION

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Christopher HakkaartJohn F. PearsonLouise MarquartJoe DennisGeorge A. R. WigginsDaniel R. BarnesBridget A. RobinsonPeter D. MaceKristiina AittomäkiIrene L. Andrulis et al.

A1 Journal Article in COMMUNICATIONS BIOLOGY

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Linda A. J. HendricksNicoline HoogerbruggeHanka VenselaarStefan AretzIsabel SpierEric LegiusHilde BremsRobin de PutterKathleen ClaesGareth Evans et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Joint Belgian recommendation on screening for DPD-deficiency in patients treated with 5-FU, capecitabine (and tegafur)

Veerle CasneufIvan BorbathMarc Van den EyndeYolanda VerheezenWim DemeyAlain VerstraeteKathleen ClaesVincent HaufroidKaren Geboes

A1 Journal Article in ACTA CLINICA BELGICA

Liquid biopsies for integrated cancer (differential) diagnosis : from whole-genome to targeted and from genomics to epigenomics

Malaïka Van der LindenJo Van DorpeBjörn MentenKathleen Claes

Liquid biopsies to predict surgical resectability after FOLFIRINOX chemotherapy in patients with locally advanced and borderline resectable pancreatic ductal adenocarcinoma

Nele VandenbusscheLuis Abreu De CarvalhoKris GevaertFrederik BerrevoetKathleen Claes

Noncoding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in Lynch syndrome

Iris B.A.W. Te PaskeArjen R. MensenkampKornelia NevelingNicoline HoogerbruggeMarjolijn J.L. LigtenbergRicharda M. De VoerStéphanie Baert-DesurmontKathleen ClaesKim De LeeneerLisa Elze et al.

A1 Journal Article in GASTROENTEROLOGY

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Elisa V. BanderaKathleen ClaesRobin de Putter

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Practical guidance for molecular testing in metastatic prostate cancer : a Belgian perspective

Sofie VerbekeS VerschuereM-D Martin-MartinezBart LelieLouis LibbrechtM BaldewijnsS RoriveG BeniugaJ EbenM-A Van Caillie et al.

A2 Journal Article in BELGIAN JOURNAL OF MEDICAL ONCOLOGY

PRECISION : the Belgian molecular profiling program of metastatic cancer for clinical decision and treatment assignment

J. ThouveninC. Van MarckeL. DecosterG. RaicevicK. PunieM. VandenbulckeR. SalgadoE. Van ValckenborghB. MaesS. Joris et al.

A1 Journal Article in ESMO OPEN

Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis : a standardized approach with underappreciated potential

Lennart RamanMalaïka Van der LindenCiel De VriendtBliede Van den BroeckKristoff MuylleDries DeerenFranceska DedeurwaerdereSofie VerbekeAmélie DendoovenKatrien De Grove et al.

A1 Journal Article in HAEMATOLOGICA

Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis: a standardized approach with underappreciated potential

Lennart RamanMalaïka Van Der LindenCiel De VriendtBliede Van den BroeckKristoff MuylleDries DeerenFranceska DedeurwaerdereSofie VerbekeAmélie DendoovenKatrien De Grove et al.

U Journal Article in Haematologica

TIM3+ TRBV11-2 T cells and IFNγ signature in patrolling monocytes and CD16+ NK cells delineate MIS-C

Levi HosteLisa RoelsLeslie NaesensVictor BosteelsStijn VanheeSam DupontCedric BosteelsRobin BrowaeysNiels VandammeKevin Verstaen et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

2021

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette CoignardMichael LushJonathan BeesleyTracy A. O'MaraJoe DennisJonathan P. TyrerDaniel R. BarnesLesley McGuffogGoska LeslieManjeet K. Bolla et al.

A1 Journal Article in NATURE COMMUNICATIONS

Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer

Franceska DedeurwaerdereKathleen ClaesJo Van DorpeIsabelle RottiersJoni Van der MeulenJoke BreyneKoen SwaertsGeert Martens

A1 Journal Article in SCIENTIFIC REPORTS

Dealing with pseudogenes in in the next generation sequencing era

Kathleen ClaesToon RosseelKim De Leeneer

Bookchapter in Pseudogenes

Enhanced MCP-1 release in early autosomal dominant polycystic kidney disease

Peter JanssensJean-Paul DecuypereStephanie De RechterLuc BreysemDorien Van GielJaak BillenAn HindryckxLuc De CatteMarcella BaldewijnsKathleen Claes et al.

A1 Journal Article in KIDNEY INTERNATIONAL REPORTS

Frequency of participation in external quality assessment programs focused on rare diseases : Belgian guidelines for human genetics centers

Josephine LantoineAnne BrysseVinciane DidebergKathleen ClaesSofie SymoensWim CouckeValerie BenoitSonia RomboutMartine De RyckeSara Seneca et al.

A1 Journal Article in JMIR MEDICAL INFORMATICS

Genetic testing in prostate cancer in clinical practice

Robin de PutterBram De LaerePiet OstKathleen Claes

A2 Journal Article in BELGIAN JOURNAL OF MEDICAL ONCOLOGY

Hereditary syndromes and pancreatic cancer

Kathleen ClaesLaura PölslerJohannes Zschocke

Bookchapter in Textbook of pancreatic cancer : principles and practice of surgical oncology

Integration of genomics and transcriptomics allows the identification of rare DNA damage defects in PID patients with a cancer predisposition

Lynn BackersBram PartonMattias Van HeetveldeMarieke De BruyneKim De LeeneerSimon TavernierAnne VralFilomeen HaerynckKathleen Claes

Integration of genomics and transcriptomics to identify DNA damage defects in PID patients prone to cancer

Lynn BackersBram PartonMattias Van HeetveldeMarieke De BruyneKim De LeeneerAnne VralFilomeen HaerynckKathleen Claes

Integration of genomics and transcriptomics to identify DNAdamage defects in PID patients with a cancer predisposition

Lynn BackersBram PartonMattias Van HeetveldeMarieke De BruyneKim De LeeneerAnne VralFilomeen HaerynckKathleen Claes

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

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

A1 Journal Article in CLINICAL GENETICS

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

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

Myxoid hepatocellular adenoma, a rare variant of hepatocellular adenoma with distinct imaging features : a case report with immunohistochemical and molecular analysis and literature review

Nicolas De VosJoni Van der MeulenMalaïka Van der LindenKathleen ClaesAnn-Sophie CandaeleAude VanlanderRoberto TroisiHans Van VlierberghePeter SmeetsJo Van Dorpe et al.

A1 Journal Article in CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

R. KosterR. D. BrandaoD. TserpelisC. E. P. van RoozendaalC. N. van OosterhoudKathleen ClaesA. D. C. PaulussenM. SinnemaM. VreeburgV van der Schoot et al.

A1 Journal Article in NPJ GENOMIC MEDICINE

Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Greet WiemeJan KralToon RosseelPetra ZemankovaBram PartonMichal VockaMattias Van HeetveldePetra KleiblovaBettina BlaumeiserJana Soukupova et al.

Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Greet WiemeJan KralToon RosseelPetra ZemankovaBram PartonMichal VockaMattias Van HeetveldePetra KleiblovaBettina BlaumeiserJana Soukupova et al.

A1 Journal Article in CANCERS

Somatic mosaics in hereditary tumor predisposition syndromes

Verena Steinke-LangeRobin de PutterElke Holinski-FederKathleen Claes

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Inge M. M. LakemanAlexandra J. van den BroekJulien A. M. VosDaniel R. BarnesJulian AdlardIrene L. AndrulisAdalgeir ArasonNorbert ArnoldBanu K. ArunJudith Balmana et al.

A1 Journal Article in GENETICS IN MEDICINE

Timing of blood sampling for butyrylcholinesterase phenotyping in patients with prolonged neuromuscular block after mivacurium or suxamethonium

Nesse MintjensRoy BrummansFiliep SoetensKathleen ClaesLuc E. Vanlinthout

A1 Journal Article in ACTA ANAESTHESIOLOGICA SCANDINAVICA

Zebrafish as an in vivo screening tool to establish PARP inhibitor efficacy

Jeroen VierstraeteCharlotte FieuwsAndy WillaertAnne VralKathleen Claes

A1 Journal Article in DNA REPAIR

2020

Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

Vivek L. PatelEvan L. BuschTara M. FriebelAngel CroninGoska LeslieLesley McGuffogJulian AdlardSimona AgataBjarni A. AgnarssonMunaza Ahmed et al.

A1 Journal Article in CANCER RESEARCH

Atm deficient zebrafish model reveals conservation of the tumour suppressor function

Jeroen VierstraeteCharlotte FieuwsDavid CreytensJo Van DorpeAndy WillaertAnne VralKathleen Claes

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Xin YangGoska LeslieAlicja DoroszukSandra SchneiderJamie AllenBrennan DeckerAlison M. DunningJames RedmanJames ScarthInga Plaskocinska et al.

A1 Journal Article in Journal of Clinical Oncology

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Marc TischkowitzChrystelle ColasSjaak PouwelsNicoline Hoogerbruggeon behalf of European Reference Network GENTURIon behalf of PHTS Guideline Dev GrpKathleen ClaesBruce PoppeRobin de Putter

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

cDNA and targeted RNA sequencing to unravel hidden genetic defects in PID patients with only one-disease related variant in genes with recessive inheritance

Lynn BackersMarieke De BruyneSimon TavernierFilomeen HaerynckKathleen Claes

Characterization of the cancer spectrum in men with germline BRCA1 and BRCA2 pathogenic variants : results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Valentina SilvestriGoska LeslieDaniel R. BarnesBjarni A. AgnarssonKristiina AittomäkiElisa AlducciIrene L. AndrulisRosa B. BarkardottirAlicia BarrosoDaniel Barrowdale et al.

A1 Journal Article in JAMA ONCOLOGY

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

Magdalena KoczkowskaTom CallensYunjia ChenAlicia GomesAlesha D. HicksAngela SharpEric JohnsKim Armfield UhasLinlea ArmstrongKatherine Armstrong Bosanko et al.

A1 Journal Article in HUMAN MUTATION

Decreased DNA double‑strand break repair and enhanced chromosomal radiosensitivity in irradiated non‑tumorigenic human breast epithelial cells with a partial BRCA1 or BRCA2 knockdown

Annelot BaertMaria PalermoMattias Van HeetveldeBram VerstraeteJulie DepuydtJeroen VierstraeteJan PhilippéAnna SablinaGianpaolo PerlettiKathleen Claes et al.

A2 Journal Article in WORLD ACADEMY OF SCIENCES JOURNAL

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet WiemeFrederik BerrevoetAude VanlanderJo Van DorpeAnne HoorensBram PartonJurgen van LimmenANN DE BRUYNEMarc De ManKaren Geboes et al.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Vivien BéziatSimon TavernierYin-Huai ChenCindy S. MaMarie MaternaArian LaurenceJens StaalDominik AschenbrennerLisa RoelsLisa Worley et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

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

Laura FachalHugues AschardJonathan BeesleyDaniel R. BarnesJamie AllenSiddhartha KarKaren A. PooleyJoe DennisKyriaki MichailidouConstance Turman et al.

A1 Journal Article in NATURE GENETICS

First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

Lynn BackersBram PartonStephanie VermeulenMarieke De BruyneSimon TavernierKris Van Den BogaertAnne VralAns BaeyensFilomeen HaerynckBart Lambrecht et al.

First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

Lynn BackersBram PartonStephanie VermeulenMarieke De BruyneKris Van Den BogaertAnne VralAns BaeyensSimon TavernierFilomeen HaerynckKathleen Claes

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

Haoyu ZhangThomas U. AhearnJulie LecarpentierDaniel BarnesJonathan BeesleyGuanghao QiXia JiangTracy A. O’MaraNi ZhaoManjeet K. Bolla et al.

A1 Journal Article in NATURE GENETICS

Germline genetic findings which may impact therapeutic decisions in families with a presumed predisposition for hereditary breast and ovarian cancer

Carolina VelázquezKim De LeeneerEva M. Esteban-CardeñosaFrancisco Avila CobosEnrique LastraLuis E. AbellaVirginia de la CruzCarmen D. LobatónKathleen ClaesMercedes Durán et al.

A1 Journal Article in CANCERS

Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes

Thierry FrebourgSvetlana Bajalica LagercrantzCarla OliveiraRita MagenheimD. Gareth Evanson behalf of European Reference Network GENTURIKathleen ClaesBruce PoppeRobin de Putter

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Isolation and engraftment of circulating tumor cells into zebrafish embryos to predict tumor response of ovarian cancer patients

Charlotte FieuwsJeroen VierstraeteKoen Van de VijverHannelore DenysKathleen Claes

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

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

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

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. BarnesMatti A. RookusLesley McGuffogGoska LeslieThea M. MooijJoe DennisNasim MavaddatJulian AdlardMunaza AhmedKristiina Aittomäki et al.

A1 Journal Article in GENETICS IN MEDICINE

Shallow whole-genome sequencing of cell-free DNA for B-cell lymphoma diagnosis and disease monitoring : a standardized approach with underappreciated potential

Malaïka Van der LindenLennart RamanCiel De VriendtBliede Van den BroeckKristoff MuylleDries DeerenKathleen ClaesBjörn MentenFritz OffnerJo Van Dorpe

Shallow whole-genome sequencing of cell-free DNA for B-cell lymphoma diagnosis and disease monitoring: a standardized approach with underappreciated potential

Malaïka Van der LindenLennart RamanCiel De VriendtBliede Van den BroeckKristoff MuylleDries DeerenKathleen ClaesBjörn MentenFritz OffnerJo Van Dorpe

Shallow whole-genome sequencing of plasma cell-free DNA accurately differentiates small from non-small cell lung carcinoma

Lennart RamanMalaïka Van der LindenKim Van der EeckenKarim VermaelenIngel DemedtsVeerle SurmontUlrike HimpeFranceska DedeurwaerdereLiesbeth FerdinandeYolande Lievens et al.

A1 Journal Article in GENOME MEDICINE

Surveillance recommendations for patients with Lynch syndrome and FAP : a monocentric study

Lieselot BaertKathleen ClaesMarc De ManDavid TateKaren Geboes

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Helian FengAlexander GusevBogdan PasaniucLang WuJirong LongZomoroda Abu-fullKristiina AittomakiIrene L. AndrulisHoda Anton-CulverAntonis C. Antoniou et al.

A1 Journal Article in GENETIC EPIDEMIOLOGY

Zebrafish as a model to study DNA repair and developmental defects following loss of Brca2 or Atm

Jeroen VierstraeteKathleen ClaesAnne Vral

2019

Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel

Greet WiemeToon RosseelBram PartonBettina BlaumeiserSabine TejparBruce PoppeKim De LeeneerKathleen Claes

Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel

Greet WiemeToon RosseelBram PartonBettina BlaumeiserJenneke van den EndeSabine TejparBruce PoppeKim De LeeneerKathleen Claes

Application of a custom designed broad cancer predisposition gene panel for the analysis of patients with a personal and/or family history of pancreatic cancer

Greet WiemeToon RosseelBram PartonBettina BlaumeiserJenneke van den EndeSabine TejparBruce PoppeKim De LeeneerKathleen Claes

Assessment of radiation sensitivity in patients with a primary immunodeficiency disease

Anne VralAns BaeyensKathleen ClaesCarolien BonroyVictoria BonroyElien BeylsEvi DuthooLynn BackersStephanie VermeulenFilomeen Haerynck

Boosting care and knowledge about hereditary cancer : European Reference Network on Genetic Tumour Risk Syndromes

Janet R VosLisette GiepmansClaas RöhlNicoline GeverinkNicoline Hoogerbruggeon behalf of ERN GenturisBruce PoppeKathleen Claes

A1 Journal Article in FAMILIAL CANCER

cDNA and targeted RNA sequencing to unravel hidden genetic defects in PID patients with only one-disease related variant in genes with recessive inheritance

Lynn BackersMarieke De BruyneSimon TavernierFilomeen HaerynckKathleen Claes

Chromosomal radiosensitivity of triple negative breast cancer patients

Flavia Zita FranciesOlivia HerdAlan CairnsSarah NietzMarshall MurdochJacobus SlabbertKathleen ClaesAnne VralAns Baeyens

A1 Journal Article in INTERNATIONAL JOURNAL OF RADIATION BIOLOGY

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

Magdalena KoczkowskaTom CallensAlicia GomesAngela SharpYunjia ChenAlesha D. HicksArthur S. AylsworthAmedeo A. AziziDonald G. BaselGary Bellus et al.

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet WiemeFrederik BerrevoetAude VanlanderJo Van DorpeAnne HoorensMalaïka Van der LindenBram PartonJurgen van LimmenANN DE BRUYNEMarc De Man et al.

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet WiemeFrederik BerrevoetAude VanlanderJo Van DorpeAnne HoorensMalaïka Van der LindenBram PartonJurgen van LimmenANN DE BRUYNEMarc De Man et al.

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet WiemeFrederik BerrevoetAude VanlanderJo Van DorpeAnne HoorensMalaïka Van der LindenBram PartonJurgen van LimmenANN DE BRUYNEMarc De Man et al.

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet WiemeFrederik BerrevoetAude VanlanderJo Van DorpeAnne HoorensMalaïka Van der LindenBram PartonJurgen van LimmenANN DE BRUYNEMarc De Man et al.

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet WiemeFrederik BerrevoetAude VanlanderJo Van DorpeAnne HoorensMalaïka Van der LindenBram PartonJurgen van LimmenANN DE BRUYNEMarc De Man et al.

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

Magdalena KoczkowskaTom CallensAlicia GomesAngela SharpYunjia ChenAlesha D HicksArthur S AylsworthAmedeo A AziziDonald G BaselGary Bellus et al.

A1 Journal Article in GENETICS IN MEDICINE

Faithfully recapitulating PARP inhibitor efficacy in zebrafish

Jeroen VierstraeteCharlotte FieuwsAndy WillaertAnne VralKathleen Claes

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Manuel A FerreiraEric R GamazonFares Al-EjehKristiina AittomakiIrene L AndrulisHoda Anton-CulverAdalgeir ArasonVolker ArndtKristan J AronsonBanu K Arun et al.

A1 Journal Article in NATURE COMMUNICATIONS

Height and body mass index as modifiers of breast cancer risk in BRCA1/2 mutation carriers : a Mendelian randomization study

Frank QianShengfeng WangJonathan MitchellLesley McGuffogDaniel BarrowdaleGoska LeslieJan C OosterwijkWendy K ChungD Gareth EvansChristoph Engel et al.

A1 Journal Article in JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

Long term response on Regorafenib in non-V600E BRAF mutated colon cancer: a case report

Eduard CalleboutSuzane Moura RibeiroStéphanie LaurentMarc De ManLiesbeth FerdinandeKathleen ClaesJoni Van der MeulenKaren Geboes

A1 Journal Article in BMC CANCER

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Frank QianMatti A RookusGoska LeslieHarvey A RischMark H GreeneCora M AalfsMuriel A AdankJulian AdlardBjarni A AgnarssonMunaza Ahmed et al.

A1 Journal Article in BRITISH JOURNAL OF CANCER

miRNA expression profiles in BRCA1-associated breast cancers reveal upregulation of specific miRNAs in tumors lacking a clear second hit in a large proportion of the tumour

Mattias Van HeetveldeMieke R Van BockstalJo Van DorpeKim De LeeneerAnne VralKathleen Claes

PCR based target enrichment for variant confirmation, gene panels and multiplex PCR sample tracking in a whole exome sequencing workflow

Frauke CoppietersThalia Van LaethemMatthias De SmetPaul CouckeElfride De BaereKathleen ClaesBjörn MentenJo VandesompeleSteve Lefever

Radiosensitivity analysis in patients with a primary immunodeficiency disease

Anne VralAns BaeyensKathleen ClaesCarolien BonroyVictoria BordonElien BeylsEvi DuthooLynn BackersStephanie VermeulenFilomeen Haerynck

Second hits in BRCA1- and BRCA2-associated breast and ovarian cancer : connecting coding to non-coding mechanisms of inactivation

Mattias Van HeetveldeKathleen ClaesAnne VralKim De Leeneer

Shared heritability and functional enrichment across six solid cancers

Xia JiangHilary K FinucaneFredrick R SchumacherStephanie L SchmitJonathan P TyrerYounghun HanKyriaki MichailidouCorina LesseurKaroline B KuchenbaeckerJoe Dennis et al.

A1 Journal Article in NATURE COMMUNICATIONS

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

Gisella FiglioliMassimo BoglioloIrene CatucciLaura CalecaSandra Viz LasherasRoser PujolJohanna I KiiskiTaru A MuranenDaniel R BarnesJoe Dennis et al.

A1 Journal Article in NPJ BREAST CANCER

The zebrafish as an emerging model to study DNA damage in aging, cancer and other diseases

Maria Luisa CayuelaKathleen ClaesMiguel Godinho FerreiraCatarina Martins HenriquesFredericus van EedenMáté VargaJeroen VierstraeteMaria Caterina Mione

A1 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants

E MachackovaKathleen ClaesM MikovaJ HazovaE Stahlova HrabincovaP VasickovaM TrbusekM NavratilovaM SvobodaL Foretova

A2 Journal Article in KLINICKÁ ONKOLOGIE

2018

A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk

Yingchang LuAlicia Beeghly-FadielLang WuXingyi GuoBingshan LiJoellen M SchildkrautHae Kyung ImYian A ChenJennifer B PermuthBrett M Reid et al.

A1 Journal Article in CANCER RESEARCH

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

Mattias Van HeetveldeMieke Van BockstalBruce PoppeKathleen LambeinToon RosseelLilit AtanesyanDieter DeforceIvo Van Den BergheKim De LeeneerJo Van Dorpe et al.

A1 Journal Article in CANCER LETTERS

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

Leslie J BurkeJan SevcikGaetana GambinoEmma TudiniEliseos J MucakiBen C ShirleyPhillip WhileyMichael T ParsonsKim De LeeneerSara Gutiérrez-Enríquez et al.

A1 Journal Article in HUMAN MUTATION

Chromosomal radiosensitivity and instability in triple negative and/or young breast cancer and Fanconi Anaemia patients in South Africa

Flavia Zita FranciesAns BaeyensKathleen ClaesAnne Vral

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

Flavia Zita FranciesRosalind WainwrightJanet PooleKim De LeeneerIlse CoeneGreet WiemeHélène A PoirelBénédicte BrichardStephanie VermeulenAnne Vral et al.

A1 Journal Article in DNA REPAIR

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

Anna SummererVictor-Felix MautnerMeena UpadhyayaKathleen ClaesJosef HögelDavid N CooperLudwine MessiaenHildegard Kehrer-Sawatzki

A1 Journal Article in HUMAN GENETICS

Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

Magdalena KoczkowskaYunjia ChenTom CallensAlicia GomesAngela SharpSherrell JohnsonMeng-Chang HsiaoZhenbin ChenMeena BalasubramanianChristopher P Barnett et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet WiemeToon RosseelBettina BlaumeiserJenneke van den EndeSabine TejparBruce PoppeKim De LeeneerKathleen Claes

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet WiemeBruce PoppeToon RosseelKim De LeeneerKathleen Claes

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet WiemeToon RosseelBettina BlaumeiserJenneke van den EndeSabine TejparBruce PoppeKim De LeeneerKathleen Claes

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet WiemeToon RosseelBettina BlaumeiserJenneke van den EndeSabine TejparBruce PoppeKim De LeeneerKathleen Claes

miRNA expression profiles in BRCA1-associated breast cancers reveal upregulation of specific miRNAs in tumours lacking a clear second hit in a large proportion of the tumour cells

Mattias Van HeetveldeMieke R Van BockstalJo Van DorpeKim De LeeneerAnne VralKathleen Claes

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Timothy R RebbeckTara M FriebelEitan FriedmanUte HamannDezheng HuoAva KwongEdith OlahOlufunmilayo I. OlopadeAngela R SolanoSoo-Hwang Teo et al.

A1 Journal Article in HUMAN MUTATION

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

Setareh MoghadasiHuong D MeeksMaaike PG VreeswijkLinda AM JanssenAke BorgHans EhrencronaYlva Paulsson-KarlssonBarbara WappenschmidtChristoph EngelAndrea Gehrig et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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

Annelot BaertEva MachackovaIlse CoeneCarol CreminKristin TurnerCheryl Portigal-ToddMarie Jill AsratJennifer NukAllison MindlinSean Young et al.

A1 Journal Article in HUMAN MUTATION

Uncovering the role of atm in zebrafish

Jeroen VierstraeteAnne VralPaul CouckeAndy WillaertKathleen Claes

Uncovering the role of zebrafish in atm

Jeroen VierstraeteAndy WillaertPaul CouckeAnne VralKathleen Claes

Uncovering the role of zebrafish in atm

Jeroen VierstraeteAndy WillaertPaul CouckeAnne VralKathleen Claes

2017

Accurate quantification of homologous recombination : a zebrafish brca2-/- model

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

Accurate quantification of homologous recombination : a zebrafish BRCA2-/- model

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

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

Jeroen VierstraeteAndy WillaertPetra VermassenPaul CouckeAnne VralKathleen Claes

A1 Journal Article in SCIENTIFIC REPORTS

Accurate Quantification of Homologous Recombination in Zebrafish: brca2 deficiency as a paradigm

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersAnne VralKathleen Claes

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

Annelot BaertJulie DepuydtTom Van MaerkenBruce PoppeFransiska MalfaitTim Van DammeSylvia De NobeleGianpaolo PerlettiKim De LeeneerKathleen Claes et al.

A1 Journal Article in ONCOLOGY REPORTS

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3

Yosr HamdiPenny SoucyKaroline B. KuchenbaekerTomi PastinenArnaud DroitAudrey LemaconJulian AdlardKristiina AittomakiIrene L. AndrulisAdalgeir Arason et al.

A1 Journal Article in BREAST CANCER RESEARCH AND TREATMENT

BRCA2 hypomorphic missense variants confer moderate risks of breast cancer

Hermela ShimelisRomy LS MesmanCatharina Von NicolaiAsa EhlenLucia GuidugliCharlotte MartinFabienne MGR CalléjaHuong MeeksEmily HallbergJamie Hinton et al.

A1 Journal Article in CANCER RESEARCH

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Karoline B KuchenbaeckerLesley McGuffogDaniel BarrowdaleAndrew LeePenny SoucySue HealeyJoe DennisMichael LushMark RobsonAmanda B Spurdle et al.

A1 Journal Article in JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

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

Mattias Van HeetveldeWouter Van LoockeWim TrypsteenAnnelot BaertKatrien VanderheydenBrecht CrombezJo VandesompeleKim De LeeneerKathleen Claes

A2 Journal Article in BIOMOLECULAR DETECTION AND QUANTIFICATION

From human genetics to radiobiology : in vitro radiosensitivity in individuals with a germline defect in DNA damage response genes

Annelot BaertAnne VralKathleen Claes

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Catherine M PhelanKaroline B KuchenbaeckerJonathan P TyrerSiddhartha P KarKate LawrensonStacey J WinhamJoe DennisAilith PirieMarjorie J RigganGanna Chornokur et al.

A1 Journal Article in NATURE GENETICS

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Roger L MilneKaroline B KuchenbaeckerKyriaki MichailidouJonathan BeesleySiddhartha KarSara LindströmShirley HuiAudrey LemaçonPenny SoucyJoe Dennis et al.

A1 Journal Article in NATURE GENETICS

In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations

Joni Van der MeulenBarbara DenysElien De LatterSteve LefeverToon RosseelWouter SteyaertGRETA VAN DER CRUYSSENIsabelle RottiersDavid CreytensJo Van Dorpe et al.

In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations

Joni Van der MeulenBarbara DenysElien De LatterSteve LefeverToon RosseelWouter SteyaertGRETA VAN DER CRUYSSENIsabelle RottiersDavid CreytensJo Van Dorpe et al.

Incorporating PARP-inhibitors into clinical routine : a tailored treatment strategy to tackle ovarian cancer

Emiel De JaeghereKatrien VandecasteeleKathleen ClaesAmin MakarPhilippe TummersVeronique CocquytHannelore Denys

A1 Journal Article in ACTA CLINICA BELGICA

Pancreatic cancer : hope to improve prognosis through thorough analysis of DNA and RNA biomarkers for detection and therapy monitoring in liquid biopsies

Greet WiemeFrederik BerrevoetAude VanlanderMarc De ManKaren GeboesJo Van DorpeAnne HoorensMalaïka Van der LindenJurgen van LimmenANN DE BRUYNE et al.

Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores

Julie LecarpentierValentina SilvestriKaroline B KuchenbaeckerDaniel BarrowdaleJoe DennisLesley McGuffogPenny SoucyGoska LesliePiera RizzoloAnna Sara Navazio et al.

A1 Journal Article in JOURNAL OF CLINICAL ONCOLOGY

Second hit landscape in BRCA-associated breast cancer

Mattias Van HeetveldeMieke Van BockstalTrees LepezSteve LefeverLeen PietersKathleen LambeinMarleen PraetIvo Van Den BergheFrauke CoppietersNadine Van Roy et al.

Second hit landscape in BRCA1/2-associated breast cancer

Mattias Van HeetveldeMieke Van BockstalTrees LepezKathleen LambeinDieter DeforceAnne VralBruce PoppeKim De LeeneerJo Van DorpeKathleen Claes

Study of homologous recombination repair in BRCA2 knockout zebrafish embryos

Jeroen VierstraeteAndy WillaertPaul CouckeAnne VralKathleen Claes

Study of homologous recombination repair in BRCA2 knockout zebrafish embryos

Jeroen VierstraeteAndy WillaertPaul CouckeAnne VralKathleen Claes

2016

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

Dana Madorsky-FeldmanMiri Sklair-LevyTamar PerriYael LaitmanShani Paluch-ShimonRita SchmutzlerKerstin RhiemJenny LesterBeth Y KarlanChristian F Singer et al.

A1 Journal Article in BREAST CANCER RESEARCH AND TREATMENT

BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers

Huong D MeeksHonglin SongKyriaki MichailidouManjeet K BollaJoe DennisQin WangDaniel BarrowdaleDebra FrostLesley McGuffogSteve Ellis et al.

A1 Journal Article in JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Alison M DunningKyriaki MichailidouKaroline B KuchenbaeckerDeborah ThompsonJuliet D FrenchJonathan BeesleyCatherine S HealeySiddhartha KarKaren A PooleyElena Lopez-Knowles et al.

A1 Journal Article in NATURE GENETICS

Development of a blood test for selection of lung cancer patients who could benefit from immunotherapy.

Malaïka Van der LindenKarim VermaelenIngel DemedtsVeerle SurmontKathleen ClaesBjörn MentenJo Van Dorpe

DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Manou SommenIsabelle SchrauwenGeert VandeweyerNele BoeckxJason J CorneveauxJenneke van den EndeAn BoudewynsEls De LeenheerSandra JanssensKathleen Claes et al.

A1 Journal Article in HUMAN MUTATION

Evaluation of the role of germline RECQL variants in Belgian patients referred for genetic testing in the context of familial breast/ovarian cancer

Greet WiemeIlse CoeneLiselotte VergoteBruce PoppeFransiska MalfaitTom Van MaerkenKim De LeeneerKathleen Claes

Fine-scale mapping at 9p22.2 identifies candidate causal variants that modify ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

E VigoritoKB KuchenbaeckerJ BeesleyJ AdlardBA AgnarssonIL AndrulisBK ArunL BarjhouxM BelottiJ Benitez et al.

A1 Journal Article in PLOS ONE

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

K LawrensonS KarK McCueK KuchenbaekerK MichailidouJ TyrerJ BeesleySJ RamusQY LiMK Delgado et al.

A1 Journal Article in NATURE COMMUNICATIONS

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

FJ CouchKB KuchenbaeckerK MichailidouGA Mendoza-FandinoS NordJ LilyquistC OlswoldE HallbergS AgataH Ahsan et al.

A1 Journal Article in NATURE COMMUNICATIONS

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

C ZengXY GuoJR LongKB KuchenbaeckerA DroitK MichailidouM GhoussainiS KarA FreemanJL Hopper et al.

A1 Journal Article in BREAST CANCER RESEARCH

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Annelot BaertJulie DepuydtTom Van MaerkenBruce PoppeFransiska MalfaitKatrien StormJenneke van den EndeTim Van DammeSylvia De NobeleGianpaolo Perletti et al.

A1 Journal Article in BREAST CANCER RESEARCH

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Timothy R RebbeckTara M FriebelNandita MitraFei WanStephanie ChenIrene L AndrulisParaskevi ApostolouNorbert ArnoldBanu K ArunDaniel Barrowdale et al.

A1 Journal Article in BREAST CANCER RESEARCH

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Valentina SilvestriDaniel BarrowdaleAnna Marie MulliganSusan L NeuhausenStephen FoxBeth Y KarlanGillian MitchellPaul JamesDarcy L ThullKristin K Zorn et al.

A1 Journal Article in BREAST CANCER RESEARCH

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Antoinette HollestelleFrederieke H van der BaanAndrew BerchuckSharon E JohnattyKatja K AbenBjarni A AgnarssonKristiina AittomäkiElisa AlducciIrene L AndrulisHoda Anton-Culver et al.

A1 Journal Article in GYNECOLOGIC ONCOLOGY

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

Melissa SoutheyDavid E GoldgarRobert WinqvistKatri PylkäsFergus CouchMarc TischkowitzWilliam D FoulkesJoe DennisKyriaki MichailidouElizabeth J van Rensburg et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants

Jeroen VierstraeteAndy WillaertKris VleminckxPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants identified in breast/ovarian cancer patients

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants identified in breast/ovarian cancer patients

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants identified in breast/ovarian cancer patients

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

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

Marco SavareseGiuseppina Di FruscioAnnalaura TorellaChiara FiorilloFrancesca MagriMarina FaninLucia RuggieroGiulia RicciGuja AstreaLuigia Passamano et al.

A1 Journal Article in NEUROLOGY

Thorough second hit analysis in BRCA1/2 associated breast cancer

Mattias Van HeetveldeTrees LepezLeen PietersSteve LefeverJo Van DorpeKathleen LambeinMarleen Praetivo Van Den BergheFrauke CoppietersJo Vandesompele et al.

Thorough second-hit analysis in BRCA1/2-associated breast cancer

Mattias Van HeetveldeTrees LepezLeen PietersSteve LefeverJo Van DorpeKathleen LambeinMarleen PraetIvo Van Den BergheFrauke CoppietersJo Vandesompele et al.

2015

Accurate quantification of transcripts : a RT-qPCR versus ddPCR comparison

Mattias Van HeetveldeWouter Van LoockeKim De LeeneerBrecht CrombezAnnelot BaertKatrien VanderheydenKathleen Claes

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

Sigurd E DelangheJan DierickThomas MaenhoutLennart ZabeauJan TavernierKathleen ClaesJoris BleyenJoris Delanghe

A1 Journal Article in CLINICA CHIMICA ACTA

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

Sophie BleinClaire BardelVincent DanjeanLesley McGuffogSue HealeyDaniel BarrowdaleAndrew LeeJoe DennisKaroline B KuchenbaeckerPenny Soucy et al.

A1 Journal Article in BREAST CANCER RESEARCH

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

Ignacio BlancoKaroline KuchenbaeckerDaniel CuadrasXianshu WangDaniel BarrowdaleGorka Ruiz de GaribayPablo LibradoAlejandro Sánchez-GraciaJulio RozasNúria Bonifaci et al.

A1 Journal Article in PLOS ONE

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

Timothy R RebbeckNandita MitraFei WanOlga M SinilnikovaSue HealeyLesley McGuffogSylvie MazoyerGeorgia Chenevix-TrenchDouglas F EastonAntonis C Antoniou et al.

A1 Journal Article in JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

FZ FranciesT WainsteinKim De LeeneerA CairnsM MurdochS NietzH CubaschBruce PoppeTom Van MaerkenBrecht Crombez et al.

A1 Journal Article in BMC CANCER

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

P PeterlongoJ Chang-ClaudeKB MoysichA RudolphRK SchmutzlerJ SimardP SoucyRA EelesDF EastonU Hamann et al.

A1 Journal Article in CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Decoding NF1 intragenic copy-number variations

Meng-Chang HsiaoArkadiusz PiotrowskiTom CallensChuanhua FuKatharina WimmerKathleen ClaesLudwine Messiaen

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Kim De LeeneerJan HellemansWouter SteyaertSteve LefeverInge VereeckeEveline DebalsBrecht CrombezMachteld BaetensMattias Van HeetveldeFrauke Coppieters et al.

A1 Journal Article in HUMAN MUTATION

Focus on 16p13.3 Locus in colon cancer

Evi MampaeyAnnelies FieuwThalia Van LaethemLiesbeth FerdinandeKathleen ClaesWim CeelenYves Van NieuwenhovePiet PattynMarc De ManKim De Ruyck et al.

A1 Journal Article in PLOS ONE

High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

Kitiwan RojnueangnitJing XieAlicia GomesAngela SharpTom CallensYunjia ChenYing LiuMeagan CochranMary-Alice AbbottJoan Atkin et al.

A1 Journal Article in HUMAN MUTATION

Huge variability in a huge gene: TTN variants identified in a large NGS-resequencing project

M SavareseA EvilaG Di FruscioA ViholaA TorellaG TascaF MagriSandra JanssensL RuggieroKathleen Claes et al.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

KB KuchenbaeckerSJ RamusJ TyrerA LeeHC ShenJ BeesleyK LawrensonL McGuffogS HealeyJM Lee et al.

A1 Journal Article in NATURE GENETICS

Mucoviscidose en congenitale bilaterale afwezigheid van vas deferens: één ziekte met twee gezichten?

Hanne DebunneSandra JanssensKathleen ClaesJan Gerris

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

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

Marco SavareseGiuseppina Di FruscioGiorgio TascaLucia RuggieroSandra JanssensJan De BleeckerMarc DelpechOlimpia MusumeciAntonio ToscanoCorrado Angelini et al.

A1 Journal Article in NEUROMUSCULAR DISORDERS

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

Osama EssawiMohammad A FarrajKim De LeeneerWouter SteyaertKatia De PauwAnne De PaepeKathleen ClaesTamer EssawiPaul Coucke

A1 Journal Article in DISEASE MARKERS

Non coding RNA molecules as potential biomarkers in breast cancer

Kim De LeeneerKathleen Claes

A1 Journal Article in Advances in Experimental Medicine and Biology

Oncogenetic testing and follow-up for women with familial breast/ovarian cancer, Li-Fraumeni syndrome and Cowden syndrome

Jo RobaysSabine StordeurFrank HulstaertTom Van MaerkenKathleen ClaesNicolas JaninGert MatthijsDaphné 't Kint de RoodenbekeMartine BerlièreHans Wildiers et al.

Oncogenetic testing for persons with hereditary endocrine cancer syndromes

Joan VlayenMarie BexBert BravenboerKathleen ClaesBruno LapauwAlexandre PersuKris PoppeUrielle UllmanTom Van MaerkenLaurent Vroonen et al.

Oncogenetic testing, diagnosis and follow-up in Birt-Hogg-Dubé syndrome, familial atypical multiple mole melanoma syndrome and neurofibromatosis 1 and 2

Jo RobaysSabine StordeurFrank HulstaertJean-François BaurainLieve BrochezTeofila CaplanusiKathleen ClaesEric LegiusSylvie RotteyDirk Schrijvers et al.

The G2 micronucleus-assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 mutation

Annelot BaertJulie DepuydtBruce PoppeTom Van MaerkenFransiska MalfaitTim Van DammeSylvia De NobeleKim De LeeneerKathleen ClaesAnne Vral

2014

A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome

Linde De KeyzerEls De LeenheerKathleen ClaesSandra Janssens

A1 Journal Article in GENETIC COUNSELING

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

Karoline B KuchenbaeckerSusan L NeuhausenMark RobsonDaniel BarrowdaleLesley McGuffogAnna Marie MulliganIrene L AndrulisAmanda B SpurdleMarjanka K SchmidtRita K Schmutzler et al.

A1 Journal Article in BREAST CANCER RESEARCH

Breast-cancer risk in families with mutations in PALB2

AC AntoniouS CasadeiT HeikkinenD BarrowdaleK PylkäsJ RobertsA LeeD SubramanianKim De LeeneerF Fostira et al.

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

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

Phillip J WhileyMiguel de la HoyaMads ThomassenAlexandra BeckerRita BrandãoInge Sokilde PedersenMarco MontagnaMireia MenéndezFrancisco QuilesSara Gutiérrez-Enríquez et al.

A1 Journal Article in CLINICAL CHEMISTRY

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

Kathleen ClaesKim De Leeneer

Bookchapter in Pseudogenes : functions and protocols

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

Ana OsorioRoger L MilneKaroline KuchenbaeckerTereza VaclováGuillermo PitaRosario AlonsoPaolo PeterlongoIgnacio BlancoMiguel de la HoyaMercedes Duran et al.

A1 Journal Article in PLOS GENETICS

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

Douglas R StewartHilde BremsAlicia G GomesSarah L RuppertTom CallensJennifer WilliamsKathleen ClaesMichael B BoberRachel HachenLeonard B Kaban et al.

A1 Journal Article in GENETICS IN MEDICINE

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

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMarkus J van RoosmalenKaren Duran et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

Meng-Chang HsiaoArkadiusz PiotrowskiJohn AlexanderTom CallensChuanhua FuFady M MikhailKathleen ClaesLudwine Messiaen

A1 Journal Article in HUMAN MUTATION

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

Julia VogtKathrin BengesserKathleen ClaesKatharina WimmerVictor-Felix MautnerRick van MinkelenEric LegiusHilde BremsMeena UpadhyayaJosef Högel et al.

A1 Journal Article in GENOME BIOLOGY

The G2 micronucleus assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 or BRCA2 mutation

Annelot BaertJulie DepuydtBruce PoppeTom Van MaerkenFransiska MalfaitTim Van DammeSylvia De NobeleKim De LeeneerKathleen ClaesAnne Vral

The G2-micronucleus assay for the detection of in vitro chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers

Annelot BaertJulie DepuydtBruce PoppeTom Van MaerkenFransiska MalfaitTim Van DammeKim De LeeneerKathleen ClaesAnne Vral

2013

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

Isabelle SchrauwenManou SommenJason J CorneveauxRebecca A ReimanNicole J HackettCharlotte ClaesKathleen ClaesMaria Bitner-GlindziczPaul CouckeGuy Van Camp et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Janine L BakkerSaskia van MilGerry CrossanNelly SabbaghianKim De LeeneerBruce PoppeMuriel AdankHans GilleHenk VergeulHanne Meijers-Heijboer et al.

A1 Journal Article in HUMAN MUTATION

Development of an S-G2 micronucleus assay for the detection of in vitro chromosomal radiosensitivity in high-risk women subjected to early mammography screening for breast cancer

Anne VralJulie DepuydtAnnelot BaertBruce PoppeTom Van MaerkenFransiska MalfaitKim De LeeneerMarc D'HoogheKathleen Claes

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

Fergus J CouchXianshu WangLesley McGuffogAndrew LeeCurtis OlswoldKaroline B KuchenbaeckerPenny SoucyZachary FredericksenDaniel BarrowdaleJoe Dennis et al.

A1 Journal Article in PLOS GENETICS

Lhermitte-Duclos disease with obstructive hydrocephalus : an illustrative case treated with endoscopic ventriculo-cisternostomy

C-A SibilleM TriffauxKathleen ClaesY SznajerM Gille

A1 Journal Article in REVUE NEUROLOGIQUE

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMJ Van RoosmalenK Duran et al.

Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT

Wim TerrynRaymond VanholderDimitri HemelsoetBart LeroyWim Van BiesenG De SchoenmakereBrigitte WuytsKathleen ClaesJulie De BackerAnne De Paepe et al.

Bookchapter in JIMD reports : case and research reports 2012/5

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

Stéphanie BlockhuysBart Van RompayeRiet De RyckeKathleen LambeinKathleen ClaesMarc BrackeCarlos De WagterOlivier De Wever

A1 Journal Article in RADIOTHERAPY AND ONCOLOGY

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

Kathleen ClaesJulie DepuydtA Malcolm R TaylorJames I LastAnnelot BaertPeter SchietecatteVeerle VandersickelBruce PoppeKim De LeeneerMarc D'Hooghe et al.

A1 Journal Article in NEUROMOLECULAR MEDICINE

2012

Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

A JakubowskaD RozkrutA AntoniouU HamannRJ ScottL McGuffogS HealyOM SinilnikovaG RennertF Lejbkowicz et al.

A1 Journal Article in BRITISH JOURNAL OF CANCER

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions

Antje M ZicklerStephanie HamppLudwine MessiaenKathrin BengesserTanja MussotterAngelika C RoehlKatharina WimmerVictor-Felix MautnerLan KluweMeena Upadhyaya et al.

A1 Journal Article in HUMAN MUTATION

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

Kim De LeeneerMieke Van BockstalSara De BrouwerNATALIA SWIETEKPeter SchietecatteN SabbaghianJ Van den EndeS WillocxK StormB Blaumeiser et al.

A1 Journal Article in BREAST CANCER RESEARCH AND TREATMENT

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

Julia VogtTanja MussotterKathrin BengesserKathleen ClaesJosef HögelNadia ChuzhanovaChuanhua FuJenneke van den EndeVictor-Felix MautnerDavid N Cooper et al.

A1 Journal Article in HUMAN MUTATION

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMJ Van RoosmalenK Duran et al.

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

Douglas R StewartAlexander PemovEline BaertHilde BremsRaf SciotKathleen ClaesEvgenia PakAmalia DutraChyi-Chia Richard LeeEric Legius

A1 Journal Article in GENES CHROMOSOMES & CANCER

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

D Babovic-VuksanovicLudwine MessiaenChristoph NagelHilde BremsBernd ScheithauerEllen DenayerRong MaoRalf SciotKaren M JanowskiMartin U Schuhmann et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

DJ OsherKim De LeeneerG MichilsN HamelE TomiakBruce PoppeK LeunenE LegiusA ShuenE Smith et al.

A1 Journal Article in BRITISH JOURNAL OF CANCER

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

Filomeen HaerynckKristel Van SteenT CattaertBart LoeysSabine Van daelePetra SchelstraeteKathleen ClaesM Van ThielenI De CanckJM Mahachie John et al.

A1 Journal Article in HUMAN IMMUNOLOGY

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

Kim De LeeneerIlse CoeneBrecht CrombezJustine SimkensRudy Van den BroeckeAlain BolsBarbara StragierIlse VanhoutteAnne De PaepeBruce Poppe et al.

A1 Journal Article in BREAST CANCER RESEARCH AND TREATMENT

2011

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

Lara Bossini-CastilloJasper CA BroenCarmen P SimeonLorenzo BerettaMadelon C VonkNorberto Ortego-CentenoGerard EspinosaPatricia CarreiraMaría Teresa CampsNuria Navarette et al.

A1 Journal Article in ANNALS OF THE RHEUMATIC DISEASES

Combined effect of polymorphisms in Rad51 and XRCC3 on breast cancer risk and chromosomal radiosensitivity

Anne VralPetra WillemsKathleen ClaesBruce PoppeAns BaeyensGianpaolo PerlettiHubert Thierens

A1 Journal Article in MOLECULAR MEDICINE REPORTS

Evaluation of RAD51C as a new breast cancer suceptibility gene in Belgian/Dutch population

Kim De LeeneerM Van BockstaelNATALIA SWIETEKJ Van den EndeK StormB BlaumeiserK LeunensCJ van AsperenJT WijnenE Legius et al.

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

Kim De LeeneerJan HellemansJoachim De SchrijverMachteld BaetensBruce PoppeWim Van CriekingeAnne De PaepePaul CouckeKathleen Claes

A1 Journal Article in HUMAN MUTATION

Objective assessment of nasality in Flemish adults with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensKathleen ClaesJohn Van Borsel

Objective assessment of nasality in Flemish adults with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensKathleen ClaesJohn Van Borsel

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Kim De LeeneerJoachim De SchrijverLieven ClementMachteld BaetensSteve LefeverSarah De KeulenaerWim Van CriekingeDieter DeforceFilip Van NieuwerburghSofie Bekaert et al.

A1 Journal Article in PLOS ONE

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

Mafalda BarbosaMartinha HenriqueJorge Pinto-BastoKathleen ClaesGabriela Soares

A1 Journal Article in CANCER GENETICS

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

Kathleen ClaesKarin DahanS TejparAnne De PaepeMaryse BonduelleMarc AbramowiczChristine VerellenDenis FranchimontEric Van CutsemAlex Kartheuser

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA

2010

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

Antonio C AntoniouJonathan BeesleyLesley McGuffogOlga M SinilnikovaSue HealeySusan L NeuhausenYuan Chung DingTimothy R RebbeckJeffrey N WeitzelHenry T Lynch et al.

A1 Journal Article in CANCER RESEARCH

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

XianShu WangV Shane PankratzZachary FredericksenRobert TarrellMary KarausLesley McGuffogPaul D PharaohBruce A PonderAlison M DunningSusan Peock et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign

L DesmyterM GhassibeN RevencuO BouteM LeesG FrançoisC Verellen-DumoulinY SznajerA MonclaH Benateau et al.

A2 Journal Article in MOLECULAR SYNDROMOLOGY

Kanker en erfelijkheid : van moleculaire diagnostiek tot psychologische begeleiding

Philippe De WildeKathleen ClaesKim De LeeneerBruce PoppeAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Leiden open variation database of the MUTYH gene

Astrid A OutCari MJ TopsMaartje NielsenMarjan M WeissIvonne JHM van MinderhoutIvo FAC FokkemaMarie-Pierre BuisineKathleen ClaesChrystelle ColasRiccardo Fodde et al.

A1 Journal Article in HUMAN MUTATION

2009

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

Joke WerbrouckKim De RuyckFréderic DuprezLiv VeldemanKathleen ClaesMarc Van EijkerenTom BoterbergPetra WillemsAnne VralWilfried De Neve et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

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

AC AntoniouOM SinilnikovaL McGuffogS HealeyH NevanlinnaT HeikkinenJ SimardAB SpurdleJ BeesleyXQ Chen et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

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)

A OsorioRL MilneG PitaP PeterlongoT HeikkinenJ SimardG Chenevix-TrenchAB SpurdleJ BeesleyX Chen et al.

A1 Journal Article in BRITISH JOURNAL OF CANCER

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

Li LL LiKajal BiswasLaura Anne HabibSergey G KuznetsovNancy HamelTomas KirchhoffNora WongSusan ArmelGeorge ChongSA Narod et al.

A1 Journal Article in HUMAN MUTATION

Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes A Supplement to HRMCA Mutation Scanning, Allowing the Strong Reduction of Sequencing Burden

Kim De LeeneerIlse CoeneBruce PoppeAnne De PaepeKathleen Claes

A1 Journal Article in JOURNAL OF MOLECULAR DIAGNOSTICS

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

Hilde BremsCaroline ParkOphélia MaertensAlexander PemovLudwine MessiaMeena UpadhyayaKathleen ClaesEline BeertKristel PeetersVictor Mautner et al.

A1 Journal Article in CANCER RESEARCH

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association (vol 69, pg 7393, 2009)

Hilde BremsCaroline ParkOphélia MaertensAlexander PemovLudwine MessiaenMeena UpadhyayaKathleen ClaesEline BeertKristel PeetersVictor Mautner et al.

2008

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

V DESCHOOLMEESTERNancy Van DammeM BAAYKathleen ClaesE VAN MARCKF BAERTW WUYTSM CABOOTERJ WEYLERP VERMEULEN et al.

A1 Journal Article in European Journal of Cancer

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

Petra WillemsKathleen ClaesAns BaeyensVeerle VandersickelJoke WerbrouckKim De RuyckBruce PoppeRudy Van den BroeckeAmin MakarEmanuela Marras et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

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

Kim De LeeneerIlse CoeneBruce PoppeAnne De PaepeKathleen Claes

A1 Journal Article in CLINICAL CHEMISTRY

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

E MACHACKOVAL FORETOVAM LUKESOVAP VASICKOVAM NAVRATILOVAIlse CoeneH PAVLUV KOSINOVAJ KUKLOVAKathleen Claes

A1 Journal Article in BMC CANCER

Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population

W TERRYNBruce PoppeB WUYTSKathleen ClaesB MAESD VERBEELENRaymond VanholderK DE BOECKNorbert LameireAnne De Paepe et al.

A1 Journal Article in NEPHROLOGY DIALYSIS TRANSPLANTATION

Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients

Gert De SchoenmakereBruce PoppeBirgitte WuytsKathleen ClaesDavid CassimanBart MaesDierik VerbeelenRaymond VanholderDirk R. KuypersNorbert Lameire et al.

A1 Journal Article in NEPHROLOGY DIALYSIS TRANSPLANTATION

2007

Benign retroperitoneal schwannoma presenting as colitis: A case report

Gary FassDidier HosseyMichel NystDirk SmetsEsmail Najar SalighehRuth DuttmannKathleen ClaesPierre Mendes da Costa

A1 Journal Article in WORLD JOURNAL OF GASTROENTEROLOGY

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

Kim De RuyckMarcin SzaumkesselIsabelle De RudderANNELORE DEHOORNEAnne VralKathleen ClaesAnja VelgheJan Van MeerbeeckHubert Thierens

A1 Journal Article in MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

2006

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

K WIMMERS YAOKathleen ClaesH KEHRER-SAWATZKIS TINSCHERTT DE RAEDTE LEGIUST CALLENSH BEIGLBOCKOphélia Maertens et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

TGF beta 1 polymorphisms and late clinical radiosensitivity in patients treated for gynecologic tumors

Kim De RuyckMarc Van EijkerenKathleen ClaesKlaus BacherAnne VralWilfried De NeveHubert Thierens

A1 Journal Article in INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

2005

Chromosomal radio sensitivity of breast cancer with a CHEK2 mutation

Ans BaeyensKathleen ClaesPetra WillemsKim De RuyckHubert ThierensAnne Vral

A1 Journal Article in CANCER GENETICS AND CYTOGENETICS

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

Kim De RuyckMarc Van EijkerenKathleen ClaesR MORTHIERAnne De PaepeAnne VralLeo De RidderHubert Thierens

A1 Journal Article in INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

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

Jasmien HoebeeckR VAN DER LUIJTBruce PoppeEls De SmetNurten YigitKathleen ClaesR ZEWALDGJ DE JONGAnne De PaepeFranki Speleman et al.

A1 Journal Article in LABORATORY INVESTIGATION

Recente moleculaire inzichten in erfelijke borst- en ovariumkanker in België

Kathleen ClaesBruce PoppeIlse CoeneL MESSIAENAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

2004

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

Fred H MenkoGertjan L KaspersGerrit A MeijerKathleen ClaesJohanna M van HagenJohan JP Gille

A2 Journal Article in FAMILIAL CANCER

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

Kathleen ClaesBruce PoppeIlse CoeneAnne De PaepeLudwine Messiaen

A1 Journal Article in BRITISH JOURNAL OF CANCER

Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers

Ans BaeyensHubert ThierensKathleen ClaesBruce PoppeLeo De RidderAnne Vral

A1 Journal Article in INTERNATIONAL JOURNAL OF RADIATION BIOLOGY

Routine microsatellite instability testing in sporadic colorectal tumours

Nancy Van DammePieter DemetterKathleen ClaesBruce PoppeF BAERTJ ROELENSAnne De PaepeClaude CuvelierMarc Peeters

2003

BRCA1/2 mutation spectrum and frequencies in Belgian breast/ovarian cancer families

Kathleen ClaesBruce PoppeIlse CoeneAnne De PaepeLudwine Messiaen

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

Kathleen ClaesBruce PoppeE MACHACKOVAIlse CoeneL FORETOVAAnne De PaepeLudwine Messiaen

A1 Journal Article in GENES CHROMOSOMES & CANCER

2002

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

Ans BaeyensHubert ThierensKathleen ClaesBruce PoppeLudwine MessiaenLeo De RidderAnne Vral

A1 Journal Article in BRITISH JOURNAL OF CANCER

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.

Kathleen ClaesJo VandesompeleBruce PoppeK DAHANI COENEAnne De PaepeLudwine Messiaen

A1 Journal Article in ONCOGENE

2001

Genetisch advies bij het familiaal voorkomen van borstkanker

Bruce PoppeI MEIREI DELVAUXKathleen ClaesL MESSIAENAnne De Paepe

A4 Journal Article in Guneikeïa

2000

Identification and characterisation of a founder mutation in the Belgian breast/ovarian cancer population

Kathleen ClaesBruce PoppePETRA SCHEIRM De VosI DelveauxIlse CoeneAnne De PaepeLudwine Messiaen

Nieuwe inzichten in de moleculaire oorzaken van familiale borst- en ovariumkanker

Kathleen ClaesAnne De PaepeLudwine Messiaen

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

1999

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

M De VosBruce PoppeIsabelle DelvauxGeert MortierKathleen ClaesLudwine MessiaenAnne De Paepe

A1 Journal Article in DISEASE MARKERS

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

Kathleen ClaesE MachackovaMartine De VosBruce PoppeAnne De PaepeLudwine Messiaen

A1 Journal Article in DISEASE MARKERS

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish patients with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease

Kathleen ClaesEva MachackovaMichel De VosGeert MortierAnne De PaepeLudwine Messiaen

A2 Journal Article in HUMAN MUTATION

1998

Improved conditions for PTT-analysis of the BRCA1, BRCA2, NF1 and APC genes

Kathleen ClaesEva MachackovaTOM CALLENSGRETA VAN DER CRUYSSENLudwine Messiaen

A2 Journal Article in TECHNICAL TIPS ONLINE

1996

Immunolocalization of microtubules in root tips of Arabidopsis thaliana.

Kathleen ClaesWiny MessensPatric Van Oostveldt