J. Hellemans

发表

A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control consortium

David P. Kreil, Todd M. Smith, Thomas M. Blomquist, 2014, Nature Biotechnology.

The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments.

V. Beneš, J. Vandesompele, J. Hellemans, 2009, Clinical chemistry.

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

G. Mortier, F. Speleman, J. Vandesompele, 2007, Genome Biology.

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

Filip Pattyn, Jan Hellemans, Steve Lefever, 2013, Clinical chemistry.

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

Jan Hellemans, Davide Sisti, Jo Vandesompele, 2013, Methods.

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

Ruth Ladenstein, Gudrun Schleiermacher, Gian Paolo Tonini, 2009, The Lancet. Oncology.

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

F. Speleman, J. Vandesompele, J. Hellemans, 2011, Nucleic acids research.

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

Jan Hellemans, Jo Vandesompele, J. Vandesompele, 2010, Methods.

The Digital MIQE Guidelines

V. Beneš, J. Vandesompele, J. Hellemans, 2013 .

Guidelines for Minimum Information for Publication of Quantitative Digital PCR Experiments

V. Beneš, J. Vandesompele, J. Hellemans, 2013 .

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

J. Hellemans, A. Verloes, A. Willaert, 2010, Human Genetics.

Target enrichment using parallel nanoliter quantitative PCR amplification

J. Vandesompele, J. Hellemans, B. de Wilde, 2014, BMC Genomics.

Reliable and Scalable SARS-CoV-2 qPCR Testing at a High Sample Throughput: Lessons Learned from the Belgian Initiative

S. van Vooren, J. Vandesompele, J. Hellemans, 2022, Life.

Evaluation of efficiency and sensitivity of 1D and 2D sample pooling strategies for SARS-CoV-2 RT-qPCR screening purposes

J. Vandesompele, J. Hellemans, P. Mestdagh, 2022, Scientific Reports.

Evaluating Diagnostic Accuracy of Saliva Sampling Methods for Severe Acute Respiratory Syndrome Coronavirus 2 Reveals Differential Sensitivity and Association with Viral Load

J. Vandesompele, J. Hellemans, E. André, 2021, The Journal of Molecular Diagnostics.

Q uantitative Real-Time PCR E xperiments

V. Beneš, J. Vandesompele, J. Hellemans, 2009 .

Outcome Prediction of Children with Neuroblastoma using a Multigene Expression Signature, a Retrospective SIOPEN/COG/ GPOH Study

A. Naranjo, F. Speleman, J. Vandesompele, 2011 .

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

G. Mortier, J. Hellemans, A. Superti-Furga, 2009, American journal of human genetics.

The Heterozygous Lemd3+/GT Mouse Is Not a Murine Model for Osteopoikilosis in Humans

G. Mortier, J. Hellemans, S. Vandenberghe, 2009, Calcified Tissue International.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

G. Mortier, J. Hellemans, A. De Paepe, 2006, Human mutation.

Primer sequence disclosure: a clarification of the MIQE guidelines.

V. Beneš, J. Vandesompele, J. Hellemans, 2011, Clinical chemistry.

PrimePCR TM Assays : Meeting the MIQE Guidelines by Full Wet-Lab Validation

J. Vandesompele, J. Hellemans, Samuel A. Ropp, 2012 .

Removal of between-run variation in a multi-plate qPCR experiment

J. Ruijter, J. Hellemans, A. Untergasser, 2015, Biomolecular detection and quantification.

1 qPCR data analysis – unlocking the secret to successful results

J. Vandesompele, J. Hellemans, 2013 .

A Year in the Life of the EU-CardioRNA COST Action: CA17129 Catalysing Transcriptomics Research in Cardiovascular Disease

B. Schroen, J. Hellemans, Y. Devaux, 2020, Non-coding RNA.

Practical Tools to Implement Massive Parallel Pyrosequencing of PCR Products in Next Generation Molecular Diagnostics

J. Vandesompele, J. Hellemans, L. Clement, 2011, PloS one.

Selection of reliable reference genes for RT-qPCR analysis.

J. Vandesompele, J. Hellemans, 2014, Methods in molecular biology.

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

Philippe Debeer, Frank Speleman, Jan Hellemans, 2004, Nature Genetics.

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

Wolfram Kress, Julie De Backer, Jan Hellemans, 2005, Nature Genetics.

Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice

J. Vandesompele, J. Hellemans, E. Baere, 2015, Human mutation.

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

J. Hellemans, R. Ravid, J. Johnston, 2009, Molecular Neurodegeneration.

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

J. Hellemans, K. Claes, A. De Paepe, 2011, Human mutation.

The digital MIQE guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments.

Tania Nolan, Jim F Huggett, Jan Hellemans, 2013, Clinical chemistry.

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

M. Marra, K. Buysse, G. Mortier, 2007, Journal of Medical Genetics.

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

R. Reinhardt, J. Hellemans, A. Swaroop, 2005, Nature Genetics.

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

Quek Xiu Cheng, J. Hellemans, M. Dinger, 2017, Scientific Reports.

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

J. Vandesompele, J. Hellemans, D. Deforce, 2012, BMC Medical Genomics.

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

Jan Hellemans, Jo Vandesompele, Barbara D'haene, 2010, Methods.

The need for transparency and good practices in the qPCR literature

Erik Willems, Jo Vandesompele, Jim Huggett, 2013, Nature Methods.

High-throughput PCR assay design for targeted resequencing using primerXL

Jo Vandesompele, Filip Pattyn, Steve Lefever, 2017, BMC Bioinformatics.

Meeting Report from the Second “Minimum Information for Biological and Biomedical Investigations” (MIBBI) workshop

Nigel W. Hardy, Chris F. Taylor, Henning Hermjakob, 2010, Standards in genomic sciences.

Catalyzing Transcriptomics Research in Cardiovascular Disease: The CardioRNA COST Action CA17129

M. Vinciguerra, A. Buil, S. Heymans, 2019, Non-coding RNA.

Consensus guidelines for the validation of qRT-PCR assays in clinical research by the CardioRNA consortium

A. Scherer, J. Hellemans, Y. Devaux, 2022, Molecular therapy. Methods & clinical development.

miRNA expression profiling: from reference genes to global mean normalization.

Jan Hellemans, Pieter Mestdagh, Jo Vandesompele, 2012, Methods in molecular biology.

Long non-coding RNA expression profiling in the NCI60 cancer cell line panel using high-throughput RT-qPCR

J. Vandesompele, J. Hellemans, P. Mestdagh, 2016, Scientific Data.

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

G. Mortier, J. Hellemans, A. De Paepe, 2003, American journal of human genetics.

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

N. de Leeuw, B. D. de Vries, W. Reardon, 2009, European journal of medical genetics.

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

G. Mortier, J. Hellemans, N. Burrows, 2008, Journal of the American Academy of Dermatology.

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

J. Vandesompele, J. Hellemans, F. Pattyn, 2012, Genetics in Medicine.

mRNA levels of BACE1 and its interacting proteins, RTN3 and PPIL2, correlate in human post mortem brain tissue

J. Hellemans, R. Ravid, J. Johnston, 2014, Neuroscience.

Zinc transporter mRNA levels in Alzheimer's disease postmortem brain.

Jan Hellemans, J. Hellemans, R. Ravid, 2012, Journal of Alzheimer's disease : JAD.

The Importance of Quality Control During qPCR Data Analysis

J. Hellemans, D. Ph., 2010 .

Target enrichment using parallel nanoliter quantitative PCR amplification

J. Vandesompele, J. Hellemans, B. de Wilde, 2014, BMC Genomics.

Cost-effective and robust genotyping using double-mismatch allele-specific quantitative PCR

Filip Pattyn, Jan Hellemans, Steve Lefever, 2019, Scientific Reports.

MANGANESE deficiency.

E. Zackai, G. Reifenberger, T. Dierks, 2022, Journal of the American Veterinary Medical Association.

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

J. Hellemans, G. Haegeman, D. Beysen, 2007, American journal of human genetics.

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

Chris F. Taylor, Jo Vandesompele, Jan Hellemans, 2009, Nucleic acids research.

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

Olivier Thas, Jan Hellemans, Lieven Clement, 2017, PloS one.

BACE1 mRNA expression in Alzheimer's disease postmortem brain tissue.

J. Hellemans, R. Ravid, J. Johnston, 2011, Journal of Alzheimer's disease : JAD.

α-Synuclein mRNA and soluble α-synuclein protein levels in post-mortem brain from patients with Parkinson's disease, dementia with Lewy bodies, and Alzheimer's disease

J. Hellemans, R. Ravid, J. Johnston, 2012, Brain Research.

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

K. Devriendt, G. Mortier, J. Vandesompele, 2010, The Journal of clinical endocrinology and metabolism.

Evaluation of saliva sampling procedures for SARS-CoV-2 diagnostics reveals differential sensitivity and association with viral load

J. Vandesompele, J. Hellemans, E. André, 2020, medRxiv.

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

B. Menten, J. Hellemans, A. De Paepe, 2011, Human mutation.

High-throughput PCR assay design for targeted resequencing using primerXL

J. Vandesompele, J. Hellemans, F. Pattyn, 2017, BMC Bioinformatics.

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

Jo Vandesompele, Dieter Deforce, Sofie Bekaert, 2010, BMC Bioinformatics.

Maternal uniparental disomy for chromosome 14.

E. Zackai, G. Reifenberger, T. Dierks, 1991, Journal of medical genetics.

Evaluation of efficiency and sensitivity of 1D and 2D sample pooling strategies for diagnostic screening purposes

J. Verwilt, P. Mestdagh, J. Vandesompele, 2020, medRxiv.

Disclosing quantitative RT‐PCR raw data during manuscript submission: a call for action

Thomas D. Schmittgen, J. Ruijter, K. Mimori, 2023, Molecular oncology.

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

Marcel E Dinger, Jan Hellemans, Celine Everaert, 2017, Scientific Reports.

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

J. Hellemans, R. Ravid, J. Johnston, 2009, Molecular Neurodegeneration.

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

G. Mortier, F. Speleman, J. Vandesompele, 2007, Genome Biology.

Micronutrient Deficiencies

T. Dierks, I. Harting, J. Hellemans, 2010 .