Publications by authors named "Birgit Sikkema-Raddatz"

46Publications

Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing.

Clin Chem 2020 Aug;66(8):1084-1092

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1093/clinchem/hvaa119DOI Listing
August 2020

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.

BMC Bioinformatics 2018 Dec 17;19(1):531. Epub 2018 Dec 17.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1186/s12859-018-2557-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296037PMC
December 2018

GAVIN: Gene-Aware Variant INterpretation for medical sequencing.

Genome Biol 2017 01 16;18(1). Epub 2017 Jan 16.

University of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, The Netherlands.

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http://dx.doi.org/10.1186/s13059-016-1141-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240400PMC
January 2017

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.

Hum Mutat 2016 May 24;37(5):457-64. Epub 2016 Feb 24.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22969DOI Listing
May 2016

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

Eur J Paediatr Neurol 2016 May 8;20(3):489-92. Epub 2016 Jan 8.

University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejpn.2015.12.014DOI Listing
May 2016

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Eur J Med Genet 2015 Dec 6;58(12):642-9. Epub 2015 Nov 6.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.001DOI Listing
December 2015

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.

Expert Rev Mol Diagn 2015 Jan 4;15(1):61-70. Epub 2014 Nov 4.

University of Groningen, University Medical Center Groningen, Department of Genetics, CB 50, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://www.tandfonline.com/doi/full/10.1586/14737159.2015.97
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http://dx.doi.org/10.1586/14737159.2015.976555DOI Listing
January 2015

Central 22q11.2 deletions.

Am J Med Genet A 2014 Nov 14;164A(11):2707-23. Epub 2014 Aug 14.

University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36711DOI Listing
November 2014

Temporal and developmental-stage variation in the occurrence of mitotic errors in tripronuclear human preimplantation embryos.

Biol Reprod 2013 Aug 22;89(2):42. Epub 2013 Aug 22.

Center for Reproductive Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1095/biolreprod.113.107946DOI Listing
August 2013

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.

Hum Mutat 2013 Jul 29;34(7):1035-42. Epub 2013 Apr 29.

Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22332DOI Listing
July 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

Genome-wide arrays in routine diagnostics of hematological malignancies.

Hum Mutat 2012 Jun 9;33(6):941-8. Epub 2012 Apr 9.

Laboratory of Tumor Genetics, Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://doi.wiley.com/10.1002/humu.22057
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http://dx.doi.org/10.1002/humu.22057DOI Listing
June 2012

Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent.

Hum Mutat 2012 Jun 4;33(6):916-22. Epub 2012 Apr 4.

Department of Health, Ethics and Society, CAPHRI and GROW Research Schools, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/humu.22068DOI Listing
June 2012

Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.

Am J Med Genet A 2011 Oct 9;155A(10):2566-70. Epub 2011 Sep 9.

Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.34218DOI Listing
October 2011

Chromosomal mosaicism in human preimplantation embryos: a systematic review.

Hum Reprod Update 2011 Sep-Oct;17(5):620-7. Epub 2011 Apr 29.

Section of Reproductive Medicine, Department of Obstetrics and Gynaecology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1093/humupd/dmr014DOI Listing
December 2011

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

Eur J Med Genet 2010 Sep-Oct;53(5):344-6. Epub 2010 May 27.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100004
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http://dx.doi.org/10.1016/j.ejmg.2010.05.003DOI Listing
January 2011

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

Eur J Med Genet 2009 Mar-Jun;52(2-3):116-9

Department of Genetics, CB50, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.005DOI Listing
September 2009

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Eur J Med Genet 2009 Jul-Aug;52(4):161-9. Epub 2009 Apr 9.

Department of Biomedical Genetics, University Medical Centre Utrecht, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.03.015DOI Listing
November 2009

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Eur J Med Genet 2009 Mar-Jun;52(2-3):140-4. Epub 2009 Mar 26.

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900026
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http://dx.doi.org/10.1016/j.ejmg.2009.03.011DOI Listing
September 2009

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female.

Eur J Med Genet 2009 Mar-Jun;52(2-3):157-60. Epub 2009 Mar 6.

Department of Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.02.009DOI Listing
September 2009

In vitro fertilization with preimplantation genetic screening.

N Engl J Med 2007 Jul 4;357(1):9-17. Epub 2007 Jul 4.

Center for Reproductive Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1056/NEJMoa067744DOI Listing
July 2007

An absolute procedure to test the growth potential of medium and the influence of decreased oxygen tension in primary amniotic fluid cell cultures.

Prenat Diagn 2006 Sep;26(9):855-60

Department of Medical Genetics, University Medical Center Groningen, Postbus 30 001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1002/pd.1522DOI Listing
September 2006

Quality aspects of prenatal cytogenetic diagnosis: determining the effect of various factors involved in handling amniotic fluid and chorionic villus material for cytogenetic diagnosis.

Prenat Diagn 2006 Sep;26(9):791-800

Department of Medical Genetics, University Medical Center Groningen, Postbus 300001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1002/pd.1505DOI Listing
September 2006

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

Eur J Med Genet 2005 Jul-Sep;48(3):250-62

Department of Clinical Genetics, University Medical Centre Groningen, Antonius Deusinglaan 4, 9713 AW Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.007DOI Listing
November 2005