Egbert Bakker

Egbert Bakker

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Egbert Bakker

Egbert Bakker

Publications by authors named "Egbert Bakker"

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Development of a comprehensive noninvasive prenatal test.

Genet Mol Biol 2018 Jul/Sept.;41(3):545-554. Epub 2018 Jul 16.

Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2017-0177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136382PMC
July 2018

Toward health technology assessment of whole-genome sequencing diagnostic tests: challenges and solutions.

Per Med 2017 05 5;14(3):235-247. Epub 2017 May 5.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.2217/pme-2016-0089DOI Listing
May 2017

Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.

Hemoglobin 2015 13;39(2):107-10. Epub 2015 Feb 13.

Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman and.

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http://dx.doi.org/10.3109/03630269.2015.1009632DOI Listing
January 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.

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http://dx.doi.org/10.1038/ejhg.2015.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226PMC
January 2016

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.

Prenat Diagn 2015 Oct 5;35(10):945-9. Epub 2015 Apr 5.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/pd.4593
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http://dx.doi.org/10.1002/pd.4593DOI Listing
October 2015

Molecular spectrum of α-globin gene defects in the Omani population.

Hemoglobin 2014 5;38(6):422-6. Epub 2014 Nov 5.

Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman and.

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http://dx.doi.org/10.3109/03630269.2014.976414DOI Listing
July 2015

Known and new δ-globin gene mutations and other factors influencing Hb A2 measurement in the Omani population.

Hemoglobin 2014 2;38(4):299-302. Epub 2014 Jul 2.

Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman .

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http://dx.doi.org/10.3109/03630269.2014.928308DOI Listing
March 2015

Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasma.

PLoS One 2013 31;8(12):e84051. Epub 2013 Dec 31.

Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis (LDGA), Leiden University Medical Center, Leiden, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0084051PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877162PMC
September 2014

Population-based incidence and prevalence of facioscapulohumeral dystrophy.

Neurology 2014 Sep 13;83(12):1056-9. Epub 2014 Aug 13.

From the Department of Neurology (J.C.W.D., H.A., G.W.P., B.G.M.v.E.) and Department for Health Evidence (A.L.M.V.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Human Genetics (S.M.v.d.M.), Department of Neurology (J.J.G.M.V.), and Department of Clinical Genetics (E.B.), Leiden University Medical Center, Leiden, the Netherlands; and VU University Medical Center (S.S.W.), Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166358PMC
September 2014

Genetic epidemiology and preventive healthcare in multiethnic societies: the hemoglobinopathies.

Int J Environ Res Public Health 2014 Jun 11;11(6):6136-46. Epub 2014 Jun 11.

Human and Clinical Genetics Department, Leiden University Medical Center, P.O. Box 9600, Leiden 2333 ZC, The Netherlands.

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http://dx.doi.org/10.3390/ijerph110606136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078570PMC
June 2014

Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers.

J Bone Miner Res 2013 Apr;28(4):848-54

Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/jbmr.1794
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http://dx.doi.org/10.1002/jbmr.1794DOI Listing
April 2013

Successful noninvasive trisomy 18 detection using single molecule sequencing.

Clin Chem 2013 Apr 11;59(4):705-9. Epub 2013 Jan 11.

Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis (LDGA), Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2012.196212DOI Listing
April 2013

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.

Prenat Diagn 2012 Jun 20;32(6):578-87. Epub 2012 Apr 20.

Hemoglobinopathies Laboratory, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/pd.3864DOI Listing
June 2012

Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection.

Clin Chem 2012 Apr 25;58(4):699-706. Epub 2012 Jan 25.

Center for Human and Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1373/clinchem.2011.174698DOI Listing
April 2012

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements.

Hum Mutat 2012 Jan 31;33(1):272-80. Epub 2011 Oct 31.

Hemoglobinopathies Laboratory, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.21612DOI Listing
January 2012

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

Eur J Med Genet 2011 Jul-Aug;54(4):e409-12. Epub 2011 May 23.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2011.05.002DOI Listing
October 2011

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

J Clin Endocrinol Metab 2011 Feb 10;96(2):E356-9. Epub 2010 Nov 10.

Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2010-1505DOI Listing
February 2011

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Eur J Med Genet 2010 Sep-Oct;53(5):227-33. Epub 2010 Jun 11.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.003DOI Listing
January 2011

Experiences with array-based sequence capture; toward clinical applications.

Eur J Hum Genet 2011 Jan 24;19(1):50-5. Epub 2010 Nov 24.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/ejhg2010145
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http://dx.doi.org/10.1038/ejhg.2010.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039511PMC
January 2011

Pre- and postsynaptic neuromuscular junction abnormalities in musk myasthenia.

Muscle Nerve 2010 Aug;42(2):283-8

Department of Neurology, Leiden University Medical Center, K5Q-114, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1002/mus.21642DOI Listing
August 2010

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.

Neuromuscul Disord 2009 Jun 5;19(6):383-90. Epub 2009 May 5.

Center for Human and Clinical Genetics, LUMC, Einthovenweg 20, Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.nmd.2009.03.004DOI Listing
June 2009

Identification of copy number variants associated with BPES-like phenotypes.

Hum Genet 2008 Dec 25;124(5):489-98. Epub 2008 Oct 25.

Center for Human and Clinical Genetics, Leiden University Medical Center, Postzone S-6-P, Einthovenweg 20, 2333 CZ, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-008-0574-9DOI Listing
December 2008

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

Eur J Med Genet 2008 Sep-Oct;51(5):479-87. Epub 2008 May 3.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, Postzone S-6-P, 2333 CZ Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.04.003DOI Listing
November 2008

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

Blood Cells Mol Dis 2008 May-Jun;40(3):334-8. Epub 2007 Nov 26.

Department of Clinical Chemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S10799796070022
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http://dx.doi.org/10.1016/j.bcmd.2007.10.003DOI Listing
August 2008

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Eur J Hum Genet 2007 Oct 13;15(10):1034-42. Epub 2007 Jun 13.

Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201871DOI Listing
October 2007

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Eur J Hum Genet 2007 Jul 18;15(7):743-51. Epub 2007 Apr 18.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201833DOI Listing
July 2007

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Hum Genet 2007 Jun 22;121(5):591-9. Epub 2007 Mar 22.

Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1007/s00439-007-0341-3DOI Listing
June 2007

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

Eur J Hum Genet 2007 May 7;15(5):548-55. Epub 2007 Mar 7.

Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201807DOI Listing
May 2007

Haplotypes encoding the factor VIII 1241 Glu variation, factor VIII levels and the risk of venous thrombosis.

Thromb Haemost 2006 Jun;95(6):942-8

Department of Haematology, C2-R, Leiden University Medical Center, P. O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://www.thieme-connect.de/DOI/DOI?10.1160/TH06-01-0024
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http://dx.doi.org/10.1160/TH06-01-0024DOI Listing
June 2006

Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy.

Neurology 2005 Dec;65(12):1984-6

Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1212/01.wnl.0000188909.89849.59DOI Listing
December 2005

Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients.

Haematologica 2004 Oct;89(10):1172-8

Thalassemia Medical Center, Medical Faculty, Bandar Abbas University, Iran.

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October 2004

Somatic mosaicism in FSHD often goes undetected.

Ann Neurol 2004 Jun;55(6):845-50

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/ana.20106DOI Listing
June 2004

Duchenne and Becker muscular dystrophy.

Methods Mol Med 2004 ;92:311-41

Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands.

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http://dx.doi.org/10.1385/1-59259-432-8:311DOI Listing
April 2004