Erik Sistermans

Erik Sistermans

UNVERIFIED PROFILE

Are you Erik Sistermans?   Register this Author

Register author
Erik Sistermans

Erik Sistermans

Publications by authors named "Erik Sistermans"

Are you Erik Sistermans?   Register this Author

80Publications

2037Reads

42Profile Views

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Guidelines for diagnostic next-generation sequencing.

Eur J Hum Genet 2016 Jan 28;24(1):2-5. Epub 2015 Oct 28.

University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2015.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226PMC
January 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.

View Article

Download full-text PDF

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

Maternal Malignancies Detected With Noninvasive Prenatal Testing.

JAMA 2015 Nov;314(20):2192

Radboud University Medical Centre, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jama.2015.12922DOI Listing
November 2015

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Eur J Hum Genet 2015 Sep 24;23(9):1151-7. Epub 2014 Dec 24.

1] Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands [2] Department of Functional Genomics, Center for Neurogenomics and Cognition Research, VU University, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538208PMC
September 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.

View Article

Download full-text PDF

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

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Neurology 2014 Nov 22;83(21):1898-905. Epub 2014 Oct 22.

From the Departments of Child Neurology (N.I.F., M.B., M.S.v.d.K.), Clinical Genetics (R.M.L.v.S., E.S.), and Pathology (M.B.), Neuroscience Campus (N.I.F., M.B., M.S.v.d.K.), and the Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; the Center for Genetic Medicine Research, Department of Neurology (A.V., A.P.), Children's National Medical Center, Washington, DC; the Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; the Departments of Neurology and Neurosurgery and Human Genetics (B.B.), Montreal Neurological Institute, Canada; the Department of Paediatric Neurology (C.C.-B.), Erasmus University Hospital-Sophia Children's Hospital; the Department of Pathology (J.M.K.), Erasmus Medical Center, Rotterdam, the Netherlands; the Neuroradiology Department (P.S.P.), Centro Hospitalar do Porto, Portugal; the Division of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Canada; the Department of Paediatric Neurology (S.T.), Royal Belfast Hospital for Sick Children, UK; the Department of Clinical Neurosciences for Children (P.S.), Oslo University Hospital, Ullevål; University of Oslo (P.S.), Norway; the Department of Neurology (T.d.G.), Cincinnati School of Medicine and Cincinnati Children's Hospital Medical Center, OH; INSERM-IECB (S.F.), Pessac, France; the Department of Pediatric Neurology (M.D.), University of British Columbia and British Columbia Children's Hospital, Vancouver, Canada; Kennedy Krieger Institute/Johns Hopkins Medical Institutions (S.N.), Baltimore, MD; and the Departments of Pediatrics, Neurology, and Neurosurgery, Division of Pediatric Neurology (K.G., G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248461PMC
November 2014

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.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.1586/14737159.2014.91
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Smoothing waves in array CGH tumor profiles.

Bioinformatics 2009 May 10;25(9):1099-104. Epub 2009 Mar 10.

Department of Epidemiology & Biostatistics, VU University Medical Center, PO Box 7057, 1007MB Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/bioinformatics/btp132DOI Listing
May 2009

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

Hum Mutat 2009 Mar;30(3):283-92

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/humu.20883
Publisher Site
http://dx.doi.org/10.1002/humu.20883DOI Listing
March 2009

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Presenile cataract: consider cholestanol.

Arch Ophthalmol 2006 Oct;124(10):1490-2

Department of Medical Genetics and Child Develoment, University of Pécs, Hungary.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archopht.124.10.1490DOI Listing
October 2006

Germline KRAS mutations cause Noonan syndrome.

Nat Genet 2006 Mar 12;38(3):331-6. Epub 2006 Feb 12.

Department of Pediatrics, University of California, 513 Parnassus Avenue, San Francisco, California 94143, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1748DOI Listing
March 2006

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.

Hum Mutat 2006 Jan;27(1):69-77

Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Nemours Children's Clinic, Wilmington, Delaware, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/humu.20276
Publisher Site
http://dx.doi.org/10.1002/humu.20276DOI Listing
January 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.

View Article

Download full-text PDF

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

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

Am J Med Genet A 2005 Dec;139A(2):114-7

Department of Neurology, Rouen University Hospital, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30797DOI 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/5201080
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
February 2002