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

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.230-235

2014

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

Human mutation, 2015-03, Vol.36 (3), p.379-387

2015

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Rapid and Sensitive Detection of BRCA1/2 Mutations in a Diagnostic Setting: Comparison of Two High-Resolution Melting Platforms

Clinical chemistry (Baltimore, Md.), 2008-06, Vol.54 (6), p.982-989

2008

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

Clinical chemistry (Baltimore, Md.), 2014-02, Vol.60 (2), p.341-352

2014

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Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus

Investigative ophthalmology & visual science, 2015-02, Vol.56 (3), p.1701-1710

2015

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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

Cancer letters, 2018-07, Vol.425, p.125-133

2018

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Variant Ataxia Telangiectasia: Clinical and Molecular Findings and Evaluation of Radiosensitive Phenotypes in a Patient and Relatives

Neuromolecular medicine, 2013-09, Vol.15 (3), p.447-457

2013

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

Human mutation, 2018-12, Vol.39 (12), p.2025-2039

2018

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

PloS one, 2011-09, Vol.6 (9), p.e25531-e25531

2011

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

BMC bioinformatics, 2010-05, Vol.11 (1), p.269-269, Article 269

2010

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Non Coding RNA Molecules as Potential Biomarkers in Breast Cancer

Advances in experimental medicine and biology, 2015, Vol.867, p.263

2015

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Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer

Cancers, 2020-08, Vol.12 (8), p.2151

2020

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Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

Gastroenterology (New York, N.Y. 1943), 2022-12, Vol.163 (6), p.1691-1694.e7

2022

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

Proceedings of the National Academy of Sciences - PNAS, 2021-11, Vol.118 (47), p.1

2021

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

Oncology reports, 2017-03, Vol.37 (3), p.1379-1386

2017

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

Molecular diagnosis & therapy, 2022-07, Vol.26 (4), p.411-419

2022

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

Human mutation, 2011-03, Vol.32 (3), p.335-344

2011

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

DNA repair, 2018-01, Vol.61, p.17-24

2018

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Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Breast cancer research : BCR, 2016-05, Vol.18 (1), p.52-52, Article 52

2016

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

Human mutation, 2011-09, Vol.32 (9), p.1053-1062

2011

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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

Breast cancer research and treatment, 2012-02, Vol.132 (1), p.87-95

2012

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

Methods in molecular biology (Clifton, N.J.), 2014, Vol.1167, p.303

2014

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

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

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

Rapid and Sensitive Detection of BRCA1/2 Mutations in a Diagnostic Setting: Comparison of Two High-Resolution Melting Platforms

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

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus

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

Variant Ataxia Telangiectasia: Clinical and Molecular Findings and Evaluation of Radiosensitive Phenotypes in a Patient and Relatives

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

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients

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

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

Non Coding RNA Molecules as Potential Biomarkers in Breast Cancer

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer

Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

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

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

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

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

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

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

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

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

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

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

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