Research Explorer

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Researcher

Kim De Leeneer

Publications & Research Data

Awards & Distinctions

86 Results

2025

DNA sample tracking for diagnostic exome sequencing - a 1-year experience

Peter N. D. CeulemansMatthias De SmetTom SanteGertjan WilsThalia Van LaethemMauro Alessio MilazzoJo VandesompeleFrauke CoppietersSteve LefeverBrecht Guillemyn et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2024

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

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.

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

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.

2023

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

BeSolveRD : the Belgian genome resource to resolve rare diseases

Mathilde GeysensWouter BossuytElfride De BaereKim De LeeneerKoenraad DevriendtAnnelies DheedeneAime LumakaJeroen LuytenGert MatthijsBjörn Menten et al.

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

2022

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

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

Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow

Gertjan WilsCeline HelsmoortelPieter-Jan VoldersInge VereeckeMauro Alessio MilazzoJo VandesompeleFrauke CoppietersKim De LeeneerSteve Lefever

U Journal Article in MOLECULAR DIAGNOSIS & THERAPY

2021

CRISPR-SID : identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping

Thomas NaertDieter TulkensTom Van NieuwenhuysenJoanna PrzybylSuzan DemuynckMatt van de RijnMushriq Al-JazraweBenjamin A. AlmanPaul CouckeKim De Leeneer et al.

A1 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dealing with pseudogenes in in the next generation sequencing era

Kathleen ClaesToon RosseelKim De Leeneer

Bookchapter in Pseudogenes

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

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

2020

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

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

2019

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam BauwensAlejandro GarantoRiccardo SangermanoSarah NaessensNicole WeisschuhJulie De ZaeytijdMubeen KhanFrançoise SadlerIrina BalikovaCaroline Van Cauwenbergh et al.

A1 Journal Article in GENETICS IN MEDICINE

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

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

2018

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

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

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

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

2017

A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa

Annelies De JaegherSarah De JaegereToon RosseelSteve LefeverFrauke CoppietersKim De LeeneerElfride De Baere

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

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

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.

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

2016

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

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

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 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

Targeted resequencing and variant validation using pxlence PCR assays

Frauke CoppietersKimberly VerniersKim De LeeneerJo VandesompeleSteve Lefever

A2 Journal Article in BIOMOLECULAR DETECTION AND QUANTIFICATION

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 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

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

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

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

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

Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus

Basamat Almoallem MohammedMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdPhilippe KestelynFrançoise MeireSandra JanssensCaroline Van CauwenberghHannah Verdin et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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

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

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

Hannah VerdinAna Fernández-MiñánKim De LeeneerLiza BormsSandra JanssensBert CallewaertFransiska MalfaitAriana KariminejadKATHLEEN DE WAELEInge François et al.

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

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

Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

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

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

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

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

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

Machteld BaetensLut Van LaerKim De LeeneerJan HellemansJoachim De SchrijverHendrik Van de VoordeMarjolijn RenardHal DietzRonald V LacroBjörn Menten et al.

A1 Journal Article in HUMAN MUTATION

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

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

2010

Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline

Joachim De SchrijverKim De LeeneerSteve LefeverNick SabbeFilip PattynFilip Van NieuwerburghPaul CouckeDieter DeforceJo VandesompeleSofie Bekaert et al.

A1 Journal Article in BMC BIOINFORMATICS

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

2009

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

2008

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