Erik A Sistermans

Erik A Sistermans

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Erik A Sistermans

Erik A Sistermans

Publications by authors named "Erik A Sistermans"

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The Importance of Reliable Quality Control Materials for Noninvasive Prenatal Testing.

Clin Chem 2019 Jun 17;65(6):720-722. Epub 2019 Apr 17.

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1373/clinchem.2019.303701DOI Listing
June 2019

Fetal fraction evaluation in non-invasive prenatal screening (NIPS).

Eur J Hum Genet 2019 02 25;27(2):198-202. Epub 2018 Sep 25.

Department of Clinical Genetics, VU University Medical Center Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41431-018-0271-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336813PMC
February 2019

Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results.

Genet Med 2018 11 1;20(11):1472-1476. Epub 2018 Mar 1.

Department of Clinical Genetics, VU University Medical Center Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/gim.2018.32DOI Listing
November 2018

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.

Hum Mutat 2018 05 9;39(5):653-665. Epub 2018 Mar 9.

Department of Clinical Genetics, VU University Medical Center, Amsterdam Movement Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.23403DOI Listing
May 2018

WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data.

Eur J Hum Genet 2017 12 8;25(12):1354-1363. Epub 2017 Nov 8.

Clinical Genetics, VU University Medical Center Amsterdam, van der Boechorststraat 7 (BS7/J377), 1081 BT, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41431-017-0005-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865163PMC
December 2017

Comparing methods for fetal fraction determination and quality control of NIPT samples.

Prenat Diagn 2017 Aug 10;37(8):769-773. Epub 2017 Jul 10.

Department of Clinical Genetics, VU University Medical Center Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/pd.5079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5599991PMC
August 2017

Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion.

Prenat Diagn 2017 Jul 8;37(7):699-704. Epub 2017 Jun 8.

UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.5068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525582PMC
July 2017

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds.

Am J Med Genet B Neuropsychiatr Genet 2017 Apr 8;174(3):220-226. Epub 2016 Jun 8.

Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.32468DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363380PMC
April 2017

Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.

Adv Clin Chem 2016 21;74:63-102. Epub 2016 Jan 21.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/bs.acc.2015.12.004DOI Listing
August 2016

Noncoding RNA-regulated gain-of-function of STOX2 in Finnish pre-eclamptic families.

Sci Rep 2016 08 24;6:32129. Epub 2016 Aug 24.

Department of Clinical Chemistry, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1038/srep32129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995371PMC
August 2016

Calculating the fetal fraction for noninvasive prenatal testing based on genome-wide nucleosome profiles.

Prenat Diagn 2016 Jul 20;36(7):614-21. Epub 2016 May 20.

Department of Clinical Genetics, VU University Medical Center Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/pd.4816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111749PMC
July 2016

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22854DOI Listing
December 2015

First steps in exploring prospective exome sequencing of consanguineous couples.

Eur J Med Genet 2014 Nov-Dec;57(11-12):613-6. Epub 2014 Oct 2.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2014.09.003DOI Listing
July 2015

Introducing WISECONDOR for noninvasive prenatal diagnostics.

Expert Rev Mol Diagn 2014 Jun 16;14(5):513-5. Epub 2014 May 16.

Delft Bioinformatics Lab, Delft University of Technology, Mekelweg 4, 2628 CD Delft, The Netherlands.

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http://www.tandfonline.com/doi/full/10.1586/14737159.2014.91
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http://dx.doi.org/10.1586/14737159.2014.919855DOI Listing
June 2014

WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme.

Nucleic Acids Res 2014 Mar 28;42(5):e31. Epub 2013 Oct 28.

Delft Bioinformatics Lab, Delft University of Technology, Mekelweg 4, 2628 CD Delft, The Netherlands, Department of Clinical Genetics, VU University Medical Center Amsterdam, van der Boechorststraat 7 (BS7/J377), 1081 BT Amsterdam, The Netherlands and Department of Clinical Chemistry, VU University Medical Center Amsterdam, van der Boechorststraat 7 (BS7/J377), 1081 BT Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/nar/gkt992DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3950725PMC
March 2014

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.

Singapore Med J 2013 Mar;54(3):e72-5

Centre for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Dr Sutomo 14, Semarang, Indonesia.

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http://dx.doi.org/10.11622/smedj.2013055DOI Listing
March 2013

Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.

Anemia 2012 3;2012:132856. Epub 2012 Jun 3.

Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands.

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http://dx.doi.org/10.1155/2012/132856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374947PMC
August 2012

A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

Neuropediatrics 2012 Jun 19;43(3):159-61. Epub 2012 May 19.

Istanbul University, Cerrahpasa Medical Faculty, Department of Neurology, Division of Child Neurology, Istanbul, Turkey.

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http://dx.doi.org/10.1055/s-0032-1313912DOI Listing
June 2012

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Eur J Hum Genet 2012 Jan 10;20(1):11-9. Epub 2011 Aug 10.

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234509PMC
January 2012

Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers.

Ethn Health 2011 Aug-Oct;16(4-5):483-99

Biomedical Postgraduate Program on Genetic Counseling, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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http://dx.doi.org/10.1080/13557858.2011.564607DOI Listing
December 2011

LEOPARD syndrome with partly normal skin and sex chromosome mosaicism.

Am J Med Genet A 2007 Nov;143A(21):2612-5

Department of Clinical Genetics, Great Ormond Street Hospital for Children, UCL, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.31991DOI Listing
November 2007

L1 retrotransposition can occur early in human embryonic development.

Hum Mol Genet 2007 Jul 4;16(13):1587-92. Epub 2007 May 4.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddm108DOI Listing
July 2007

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

J Hum Genet 2006 25;51(8):721-6. Epub 2006 Jul 25.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.

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http://www.nature.com/doifinder/10.1007/s10038-006-0010-8
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http://dx.doi.org/10.1007/s10038-006-0010-8DOI Listing
October 2006

Spastin mutations in sporadic adult-onset upper motor neuron syndromes.

Ann Neurol 2005 Dec;58(6):865-9

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, G03.228, PO Box 85500, 3508 GA Utrecht, the Netherlands.

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http://dx.doi.org/10.1002/ana.20652DOI Listing
December 2005

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

Am J Med Genet A 2005 Apr;134A(2):165-70

Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30598DOI Listing
April 2005

Cerebrotendinous xanthomatosis: report of two Brazilian brothers.

Arq Neuropsiquiatr 2004 Dec 15;62(4):1085-9. Epub 2004 Dec 15.

Serviço de Neurologia, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2004000600028DOI Listing
December 2004

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Eur J Hum Genet 2004 Jan;12(1):24-8

Department of Human Genetics, University Medical Centre St Radboud, PO Box 9101, Nijmegen 6500 HB, The Netherlands.

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http://www.nature.com/articles/5201080
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http://dx.doi.org/10.1038/sj.ejhg.5201080DOI Listing
January 2004

CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

J Clin Endocrinol Metab 2003 Aug;88(8):3852-9

Department of Pediatric Endocrinology, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1210/jc.2002-021681DOI Listing
August 2003

Low frequency of MECP2 mutations in mentally retarded males.

Eur J Hum Genet 2002 Aug;10(8):487-90

Department of Human Genetics, University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5200836DOI Listing
August 2002

A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.

Int J Mol Med 2002 Feb;9(2):125-9

Department of Child Neurology, Second School of Medicine, Charles University and University Hospital Motol, Prague, 150 06 Prague 5, Czech Republic.

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February 2002