Research Explorer

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Researcher

Jan Hellemans

Publications & Research Data

Awards & Distinctions

46 Results

2025

Cost-effective multiplex digital PCR quantification using universal Rainbow detection probes

Gertjan WilsEmma JacobsAmber DeclercqPeter Natividad D. CeulemansJan HellemansFrauke CoppietersSteve LefeverJo Vandesompele

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2017

A unified censored normal regression model for qPCR differential gene expression analysis

Peter PipelersLieven ClementMatthijs VynckJan HellemansJo VandesompeleOlivier Thas

A1 Journal Article in PLOS ONE

High-throughput PCR assay design for targeted resequencing using primerXL

Steve LefeverFilip PattynBram De WildeFrauke CoppietersSarah De KeulenaerJan HellemansJo Vandesompele

A1 Journal Article in BMC BIOINFORMATICS

2016

Benchmarking of RNA-sequencing analysis workflows using whole-transcriptome RT-qPCR expression data

Celine EveraertAriane De GanckJan HellemansJo VandesompelePieter Mestdagh

2015

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

2014

Selection of reliable reference genes for RT-qPCR analysis

Jan HellemansJo Vandesompele

Bookchapter in Qualntitative real-time PCR : methods and protocols

2013

Evaluation of qPCR curve analysis methods for reliable biomarker discovery: bias, resolution, precision, and implications

Jan M RuijterMichael W PfafflSheng ZhaoAndrej N SpiessGregory BoggyJochen BlomRobert G RutledgeDavide SistiAntoon LievensKatleen De Preter et al.

A1 Journal Article in METHODS

Single-nucleotide polymorphisms and other mismatches reduce performance of quantitative PCR assays

Steve LefeverFilip PattynJan HellemansJo Vandesompele

A1 Journal Article in CLINICAL CHEMISTRY

The digital MIQE guidelines : minimum information for publication of quantitative digital PCR experiments

Jim F HuggettCarole A FoyVladimir BenesKerry EmslieJeremy A GarsonRoss HaynesJan HellemansMikael KubistaReinhold D MuellerTania Nolan et al.

A1 Journal Article in CLINICAL CHEMISTRY

2012

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

Frauke CoppietersBram De WildeSteve LefeverEllen De MeesterNina De RockerCaroline Van CauwenberghFilip PattynFrançoise MeireBart LeroyJan Hellemans et al.

A1 Journal Article in GENETICS IN MEDICINE

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

Sarah De KeulenaerJan HellemansSteve LefeverJean-Pierre RenardJoachim De SchrijverHendrik Van de VoordeMohammad Amin TabatabaiefarFilip Van NieuwerburghDaisy FlamezFilip Pattyn et al.

A1 Journal Article in BMC MEDICAL GENOMICS

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

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

Measurable impact of RNA quality on gene expression results from quantitative PCR

Joëlle VermeulenKatleen De PreterSteve LefeverJustine NuytensFanny De VloedStefaan DerveauxJan HellemansFranki SpelemanJo Vandesompele

A1 Journal Article in NUCLEIC ACIDS RESEARCH

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

Primer sequence disclosure : a clarification of the MIQE guidelines

Stephen A BustinVladimir BenesJeremy A GarsonJan HellemansJim HuggettMikael KubistaReinhold MuellerTania NolanMichael W PfafflGregory L Shipley et al.

A1 Journal Article in CLINICAL CHEMISTRY

2010

Accurate and objective copy number profiling using real-time quantitative PCR

B D'haeneJo VandesompeleJan Hellemans

A1 Journal Article in METHODS

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

How to do successful gene expression analysis using real-time PCR

Stefaan DerveauxJo VandesompeleJan Hellemans

A1 Journal Article in METHODS

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1

B D'haeneJan HellemansMargarita CraenJean De SchepperK DevriendtJP FrynsK KeymolenEveline DebalsA de KleinEM de Jong et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Meeting report from the second 'Minimum Information for Biological and Biomedical Investigations' (MIBBI) workshop

Carsten KettnerDawn FieldSusanna-Assunta SansoneChris TaylorJan AertsNigel BinnsAndrew BlakeCedrik M BrittenArio de MarcoJennifer Fostel et al.

Next generation sequencing: (r)evolutie in DNA sequenering en haar rol in de moderne geneeskunde

Jan HellemansSofie BekaertJo VandesompelePaul CouckeAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)

Delfien SyxFransiska MalfaitLut Van LaerJan HellemansT Hermanns-LeAndy WillaertA BenmansourAnne De PaepeA Verloes

A1 Journal Article in HUMAN GENETICS

2009

External oligonucleotide standards enable cross laboratory comparison and exchange of real-time quantitative PCR data

Joëlle VermeulenFilip PattynKatleen De PreterLiesbeth VercruysseStefaan DerveauxPieter MestdaghSteve LefeverJan HellemansFranki SpelemanJo Vandesompele

A1 Journal Article in NUCLEIC ACIDS RESEARCH

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia

Jan HellemansMarleen SimonAnnelies DheedeneYasemin AlanayErcan MihciLaila RifaiAbdelaziz SefianiYolande van BeverMorteza MeradjiAndrea Superti-Furga et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Predicting outcomes for children with neuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study

Joëlle VermeulenKatleen De PreterArlene NaranjoLiesbeth VercruysseNadine Van RoyJan HellemansKatrien SwertsSophie BravoPaolo ScaruffiGian Paolo Tonini et al.

A1 Journal Article in LANCET ONCOLOGY

RDML : structured language and reporting guidelines for real-time quantitative PCR data

Steve LefeverJan HellemansFilip PattynDaniel R PrzybylskiChris TaylorRené GeurtsAndreas UntergasserJo Vandesompele

A1 Journal Article in NUCLEIC ACIDS RESEARCH

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height

Karen BuysseWilliam ReardonLakshmi MehtaTeresa CostaCarrie FagerstromDaniel J KingsburyGeorge AnadiotisBarbara C McGillivrayJan HellemansNicole de Leeuw et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

The heterozygous Lemd3+/GT mouse is not a murine model for osteopoikilosis in humans

Annelies DheedeneSteven DeleyeJan HellemansSteven StaelensStefaan VandenbergheGeert Mortier

A1 Journal Article in CALCIFIED TISSUE INTERNATIONAL

The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments

SA BustinV BenesJA GarsonJan HellemansJ HuggettM KubistaR MuellerT NolanMW PfafflGL Shipley et al.

A1 Journal Article in CLINICAL CHEMISTRY

ZnT3 mRNA levels are reduced in Alzheimer's disease post-mortem brain

N BeyerDTR CoulsonS HeggartyR RavidGB IrvineJan HellemansJA Johnston

A1 Journal Article in MOLECULAR NEURODEGENERATION

2008

Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene

Julia GassJan HellemansGeert MortierMeryl GriffithsNigel P Burrows

A1 Journal Article in JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

IHH and acrocapitofemoral dysplasia and brachydactyly A1

Jan HellemansGeert Mortier

Bookchapter in Inborn errors of development : the molecular basis of clinical disorders of morphogenesis

LEDMD3 and osteopoikilosis, the Buschke-Ollendorf syndrome and melorheostosis

Jan HellemansGeert Mortier

Bookchapter in Inborn errors of development : the molecular basis of clinical disorders of morphogenesis

The heterozygous Lemd3 knock-out mouse: a murine model for osteopoikilosis in humans?

Annelies DheedeneSteven DeleyeJan HellemansSteven StaelensStefaan VandenbergheGeert Mortier

2007

Identification and analysis of genes involved in skeletal dysplasias affecting growth and bone homeostasis

Jan HellemansG Mortier

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Björn MentenKaren BuysseF ZAHIRJan HellemansSJ HAMILTONT COSTAC FAGERSTROMG ANADIOTISD KINGSBURYBC MCGILLIVRAY et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

Jan HellemansGeert MortierAnne De PaepeFranki SpelemanJo Vandesompele

A1 Journal Article in GENOME BIOLOGY

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

Frauke CoppietersBart LeroyDIANE BEYSENJan HellemansKarolien De BosscherGuy HaegemanKIRSTEN ROBBERECHTWim WuytsPaul CouckeElfride De Baere

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2006

Buschke-Ollendorff syndrome with LEMD3 mutation but no loss of heterozygosity in localised asymmetric skin plaque

PW PRESTONJan HellemansGeert MortierC MOSS

Buschke-Ollendorff syndrome: a manifestation of LEMD3 mutation

J GASSM GRIFFITHSJan HellemansGeert MortierN BURROWS

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

Jan HellemansPhilippe DebeerMichael WrightAndreas JaneckeKlaus W KjaerPeter VerdonkRavi SavarirayanLina BaselCelia MossJohannes Roth et al.

A2 Journal Article in HUMAN MUTATION

2005

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart LoeysJJ CHENER NEPTUNEDP JUDGEM PODOWSKIT HOLMJ MEYERSCC LEITCHN KATSANISN SHARIFI et al.

A1 Journal Article in NATURE GENETICS

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

EA OTTOB LOEYSH KHANNAJan HellemansR SUDBRAKSL FANU MUERBJF O'TOOLEJ HELOUM ATTANASIO et al.

A1 Journal Article in NATURE GENETICS

2004

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Jan HellemansO PREOBRAZHENSKAAndy WillaertP DEBEERPETER VERDONKT COSTAK JANSSENSBjörn MentenNadine Van RoyStefan Vermeulen et al.

A1 Journal Article in NATURE GENETICS

2003

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone- shaped epiphyses in hands and hips

Jan HellemansPaul CouckeA GIEDIONAnne De PaepeP KRAMERF BEEMERGeert Mortier

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS