Publications by authors named "Lonneke Haer-Wigman"

24Publications

1 in 38 individuals at risk of a dominant medically actionable disease.

Eur J Hum Genet 2019 02 5;27(2):325-330. Epub 2018 Oct 5.

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

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http://www.nature.com/articles/s41431-018-0284-2
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http://dx.doi.org/10.1038/s41431-018-0284-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336841PMC
February 2019

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Hum Mutat 2018 02 26;39(2):177-186. Epub 2017 Dec 26.

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

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http://dx.doi.org/10.1002/humu.23371DOI Listing
February 2018

Identification of a novel frequent RHCE*ce308T variant allele in Chinese D- individuals, resulting in a C+c- phenotype.

Transfusion 2016 09 24;56(9):2314-21. Epub 2016 Jun 24.

Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/trf.13709DOI Listing
September 2016

Frequency and characterization of known and novel RHD variant alleles in 37 782 Dutch D-negative pregnant women.

Br J Haematol 2016 05 27;173(3):469-79. Epub 2016 Mar 27.

Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/bjh.13960DOI Listing
May 2016

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

PLoS One 2015 16;10(3):e0119806. Epub 2015 Mar 16.

Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Molecular Life sciences, Radboud University Nijmegen, Nijmegen, the Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119806PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361598PMC
January 2016

Impact of genetic variation in the SMIM1 gene on Vel expression levels.

Transfusion 2015 Jun 3;55(6 Pt 2):1457-66. Epub 2015 Feb 3.

Sanquin Research, Amsterdam and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

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http://doi.wiley.com/10.1111/trf.13014
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http://dx.doi.org/10.1111/trf.13014DOI Listing
June 2015

Novel alleles at the Kell blood group locus that lead to Kell variant phenotype in the Dutch population.

Transfusion 2015 Feb 25;55(2):413-21. Epub 2014 Aug 25.

Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Institute of Clinical Blood Transfusion, Guangzhou Blood Center, Guangzhou, People's Republic of China.

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http://dx.doi.org/10.1111/trf.12838DOI Listing
February 2015

Molecular analysis of immunized Jr(a-) or Lan- patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a-) and Lan- phenotypes.

Transfusion 2014 Jul 24;54(7):1836-46. Epub 2014 Jan 24.

Sanquin Research, Amsterdam and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1111/trf.12544DOI Listing
July 2014

Comprehensive genotyping for 18 blood group systems using a multiplex ligation-dependent probe amplification assay shows a high degree of accuracy.

Transfusion 2013 Nov 29;53(11 Suppl 2):2899-909. Epub 2013 Aug 29.

Sanquin Research, Amsterdam and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1111/trf.12410DOI Listing
November 2013

Serologic and molecular investigations of DAR1 (weak D Type 4.2), DAR1.2, DAR1.3, DAR2 (DARE), and DARA.

Transfusion 2013 Nov 31;53(11 Suppl 2):3000-8. Epub 2013 Jul 31.

Blood Transfusion Service SRC Berne Ltd, Berne, Switzerland.

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http://dx.doi.org/10.1111/trf.12363DOI Listing
November 2013

RHD and RHCE variant and zygosity genotyping via multiplex ligation-dependent probe amplification.

Transfusion 2013 Jul 9;53(7):1559-74. Epub 2012 Oct 9.

Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, and MRC-Holland, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1111/j.1537-2995.2012.03919.xDOI Listing
July 2013