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SELECTED PUBLICATIONS

Molecular Genetics & Genomic Medicine, 2022 Aug 01, doi: 10.1002/mgg3.2016
Array genotyping as diagnostic approach in medical genetics

Front. Genet. 2018 April 30; doi 10.3389/fgene.2018.00152
Multiplexed Nanopore Sequencing of HLA-B Locus in Māori and Pacific Island Samples

J Mol Diagn. 2017 Nov;19(6):809-816. doi: 10.1016/j.jmoldx.2017.07.003. Epub 2017 Aug 17.
Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow.

J Mol Diagn. 2016 Sep 13. pii: S1525-1578(16)30141-6. doi: 10.1016/j.jmoldx.2016.06.010. [Epub ahead of print]
Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags.

Sci Rep. 2015 Sep 11;5:14060. doi: 10.1038/srep14060. PubMed PMID: 26358404; PubMed Central PMCID: PMC4566092
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.

Clin Chem. 2014 Oct 1. pii: clinchem.2014.225250. [Epub ahead of print]
Translating Sanger-Based Routine DNA Diagnostics into Generic Massive Parallel Ion Semiconductor Sequencing.

Tissue Antigens. 2014 Jan;83(1):59-60. doi: 10.1111/tan.12250. Epub 2013 Nov 28
Identification of a novel HLA-B allele, B*56:43, by sequence-based typing in a Lithuanian bone marrow donor.

PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

J Mol Diagn. 2013 Jul;15(4):473-84. doi: 10.1016/j.jmoldx.2013.03.003. Epub 2013 May 14.
Robustness of amplicon deep sequencing underlines its utility in clinical applications.

Orphanet J Rare Dis. 2013 Apr 15;8:59. doi: 10.1186/1750-1172-8-59.
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.

BMJ Open 2013 Mar 18,3(3). pii: e001917. doi:10.1136/bmjopen-2012-001917
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.

PLoS Genet. 2013;9(3):e1003365. doi: 10.1371/journal.pgen.1003365. Epub 2013 Mar 14
Rare copy number variants are a common cause of short stature.

J. Mol. Diagn. 2012 Nov;14(6):623-30. doi: 10.1016/j.jmoldx.2012.05.006. Epub 2012 Sep 30.
Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing.

Am J Hum Genet. 2012 Sep 7;91(3):527-32. Epub 2012 Aug 16.
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

Eur J Hum Genet. 2012 Jun;20(6):705-8. doi: 10.1038/ejhg.2011.264. Epub 2012 Jan 18.
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

J Med Genet 2012 May,49(5):327-31. doi: 10.1136/jmedgenet-2012-100750.
Mutations in WNT10A are present in more than half of isolated hypodontia cases.

Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Semin Oncol. 2012 Feb;39(1):26-36. doi: 10.1053/j.seminoncol.2011.11.008
Integration of next-generation sequencing into clinical practice: are we there yet?

Leukemia 2011 Dec. 25(12):1840-8. doi: 10.1038/leu.2011.155. Epub 2011 Jun 17
The Interlaboratory Robustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories.

Oncogene. 2011 Dec 15;30(50):4977-89. doi: 10.1038/onc.2011.201. Epub 2011 Jun 6.
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

Invest Ophthalmol Vis Sci 2011 Nov 25;52(12):9053-60. doi: 10.1167/iovs. 11-7978.
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

J Clin Invest. 2011 Sep;121(9):3479-91. doi: 10.1172/JCI43428. Epub 2011 Aug 1.
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.

Hum Mol Genet. 2010 Dec 1;19(23):4694-704. doi: 10.1093/hmg/ddq399. Epub 2010 Sep 15.
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).

Eur J Hum Genet. 2010 Oct;18(10):1100-6. doi: 10.1038/ejhg.2010.79. Epub 2010 May 26.
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Mol Syndromol. Sep 2010; 1(3): 99-112. doi: 10.1159/000319859
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.

Breast Cancer Res. Treat. 2010 Jul;122(1):287-97. doi: 10.1007/s10549-009-0639-z. Epub 2009 Nov 26.
High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.

Arthritis Rheum. 2010 May;62(5):1469-77. doi: 10.1002/art.27367.
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20.
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

ESHG, Glasgow, Scotland, June 2015 / Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands / Department of Genome Sciences, University of Washington, Seattle, USA
Molecular Inversion Probe based BRCA1 and BRCA2 re-sequencing in a clinical setting

ASHG, San Diego, CA, October 2014 / Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands / Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands / Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands / Department of Experimental Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands / Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Extended genetic diagnosis of Familial Hypercholesterolemia (FH) using next-generation sequencing

ASHG, San Diego, CA, October 2014 / Endocrine Practice, Heidelberg, Germany / Agilent Technologies Sales & Services GmbH & Co. KG, Germany
Simultaneous dectection of copy number variation (CNV) and point mutations with next generation sequencing (NGS) using Agilent HaloPlex custom designs

German Society of Human Genetics Annual Meeting, Dresden, March 2013 / Institute of Cell and Molecular Pathology, Hannover Medical School, Germany
Moving on to the next generation – first experiences with the Roche GS Junior in BRCA1/2 diagnostics

Next Generation Thinking in Molecular Diagnostics, Freising-Weihenstephan, March 2013/ Center for Human Genetics and Laboratory Medicine, Martinsried, Germany; Hamilton Robotics GmbH, Martinsried, Germany; Hamilton Bonaduz AG, Bonaduz, Switzerland
High Resolution HLA Typing of Blood Stem Cell Donors by Next Generation Sequencing

United States & Canadian Academy of Pathology Annual Meeting, Baltimore, March 2013 / Quest Diagnostics Nichols Institute, Chantilly, USA
Added value of High-Troughput Sequencing of Myoeloid-associated Gene Mutations in Diagnosing Myeloproliferative Neoplasms

ACMG Annual Clinical Genetics Meeting, Vancouver, March 2011 / City of Hope, Duarte, USA
SEQNEXT: Evaluation of data analysis software for next generation sequencing in a clinical laborytory

European Human Genetics Conference, Amsterdam,  May 2011 / Endocrine Practice and Medical Genetics Laboratory, Heidelberg, Germany
Parallel copy number variation and sequence variation detection with next generation sequencing (NGS)

European Human Genetics Conference, Amsterdam,  May 2011 / MVZ genteQ GmbH, Hamburg, Germany
Amplicon Resequencing of the CFTR gene using multiplexing

European Human Genetics Conference,Gothenburg, June 2010 / Center for Human Genetics, University Hospital Leuven, Belgium
Evaluation of variant identification software tools by testing BRCA1/2 mutations