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High-Resolution Melting Analysis (HRMA)--More than just sequence variant screening

Human mutation, 2009-06, Vol.30 (6), p.860-866

2009

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Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms

Nucleic acids research, 2008-12, Vol.36 (21), p.e141-e141

2008

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Genotyping DNA Variants with High-Resolution Melting Analysis

Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1492, p.17

Vossen, Rolf H A M

2017

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Quantitative DNA Analysis Using Droplet Digital PCR

Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1492, p.167

2017

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Flexible and Scalable Full‐Length CYP2D6 Long Amplicon PacBio Sequencing

Human mutation, 2017-03, Vol.38 (3), p.310-316

2017

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Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data

Science translational medicine, 2021-07, Vol.13 (603)

2021

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Resolving the complete genome of Kuenenia stuttgartiensis from a membrane bioreactor enrichment using Single-Molecule Real-Time sequencing

Scientific reports, 2018-03, Vol.8 (1), p.4580-10, Article 4580

2018

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Loss of maternal EED results in postnatal overgrowth

Clinical epigenetics, 2018-07, Vol.10 (1), p.95-95, Article 95

2018

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Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

Human mutation, 2010-10, Vol.31 (10), p.1125-1133

2010

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Clostridioides difficile infection with isolates of cryptic clade C-II: a genomic analysis of polymerase chain reaction ribotype 151

Clinical microbiology and infection, 2023-04, Vol.29 (4), p.538.e1-538.e6

2023

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Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing

Human mutation, 2017-03, Vol.38 (3), p.310-316

2017

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Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing

Human mutation, 2017-07, Vol.38 (7), p.870-879

2017

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Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies

Frontiers in neurology, 2021-12, Vol.12, p.718396-718396

2021

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Full-Length Mitochondrial-DNA Sequencing on the PacBio RSII

Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1492, p.179

2017

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Carriage of three plasmids in a single human clinical isolate of Clostridioides difficile

Plasmid, 2023-01, Vol.125, p.102669-102669, Article 102669

2023

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Generation and Characterization of Transgenic Mice with the Full-length Human DMD Gene

The Journal of biological chemistry, 2008-02, Vol.283 (9), p.5899-5907

2008

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Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

British journal of cancer, 2017-10, Vol.117 (8), p.1215-1223

2017

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Transcriptional profiling of human familial longevity indicates a role for ASF1A and IL7R

PloS one, 2012-01, Vol.7 (1), p.e27759-e27759

2012

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Simultaneous pancreas–kidney transplantation in patients with type 1 diabetes reverses elevated MBL levels in association with MBL2 genotype and VEGF expression

Diabetologia, 2016-04, Vol.59 (4), p.853-858

2016

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TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes

Bioinformatics (Oxford, England), 2014-06, Vol.30 (12), p.1651-1659

2014

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Deletion and duplication screening in the DMD gene using MLPA

European journal of human genetics : EJHG, 2005-11, Vol.13 (11), p.1231-1234

2005

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Single-nucleotide polymorphisms in the Toll-like receptor pathway increase susceptibility to infections in severely injured trauma patients

The journal of trauma and acute care surgery, 2013-03, Vol.74 (3), p.862-870

2013

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Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy

Laboratory investigation, 2010-09, Vol.90 (9), p.1396-1402

2010

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High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis

Human mutation, 2010-04, Vol.31 (4), p.E1286-E1293

2010

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High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations

Familial cancer, 2015-06, Vol.14 (2), p.247-257

2015

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High-Resolution Melting Analysis (HRMA)--More than just sequence variant screening

Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms

Genotyping DNA Variants with High-Resolution Melting Analysis

Quantitative DNA Analysis Using Droplet Digital PCR

Flexible and Scalable Full‐Length CYP2D6 Long Amplicon PacBio Sequencing

Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data

Resolving the complete genome of Kuenenia stuttgartiensis from a membrane bioreactor enrichment using Single-Molecule Real-Time sequencing

Loss of maternal EED results in postnatal overgrowth

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

Clostridioides difficile infection with isolates of cryptic clade C-II: a genomic analysis of polymerase chain reaction ribotype 151

Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing

Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing

Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies

Full-Length Mitochondrial-DNA Sequencing on the PacBio RSII

Carriage of three plasmids in a single human clinical isolate of Clostridioides difficile

Generation and Characterization of Transgenic Mice with the Full-length Human DMD Gene

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

Transcriptional profiling of human familial longevity indicates a role for ASF1A and IL7R

Simultaneous pancreas–kidney transplantation in patients with type 1 diabetes reverses elevated MBL levels in association with MBL2 genotype and VEGF expression

TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes

Deletion and duplication screening in the DMD gene using MLPA

Single-nucleotide polymorphisms in the Toll-like receptor pathway increase susceptibility to infections in severely injured trauma patients

Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy

High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations

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