Sigrid M Swagemakers

Sigrid M A Swagemakers

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Sigrid M Swagemakers

Sigrid M A Swagemakers

Publications by authors named "Sigrid M A Swagemakers"

36Publications

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1PubMed Central Citations

Combined cellular and soluble mediator analysis for improved diagnosis of vitreoretinal lymphoma.

Acta Ophthalmol 2019 Sep 27;97(6):626-632. Epub 2019 Jan 27.

Department of Immunology, Laboratory Medical Immunology, Erasmus MC, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1111/aos.14036DOI Listing
September 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Maternal diabetes causes developmental delay and death in early-somite mouse embryos.

Sci Rep 2017 09 15;7(1):11714. Epub 2017 Sep 15.

Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, Netherlands.

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http://dx.doi.org/10.1038/s41598-017-11696-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601907PMC
September 2017

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.

Am J Med Genet B Neuropsychiatr Genet 2016 12 6;171(8):1049-1056. Epub 2016 Jul 6.

Department of Bioinformatics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.32473DOI Listing
December 2016

A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.

Photodermatol Photoimmunol Photomed 2016 Jul 30;32(4):174-80. Epub 2016 Jun 30.

Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1111/phpp.12240DOI Listing
July 2016

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Am J Hum Genet 2015 Sep;97(3):378-88

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564895PMC
September 2015

Retinal pigment epithelial cells display specific transcriptional responses upon TNF-α stimulation.

Br J Ophthalmol 2015 May 13;99(5):700-4. Epub 2015 Feb 13.

Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center Rotterdam, The Netherlands.

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http://bjo.bmj.com/content/99/5/700.full.pdf
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http://bjo.bmj.com/cgi/doi/10.1136/bjophthalmol-2014-306309
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http://dx.doi.org/10.1136/bjophthalmol-2014-306309DOI Listing
May 2015

A novel mutation in FGFR2.

Am J Med Genet A 2015 Jan 25;167A(1):123-7. Epub 2014 Nov 25.

Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, the Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.36827
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http://dx.doi.org/10.1002/ajmg.a.36827DOI Listing
January 2015

Pollitt syndrome patients carry mutation in TTDN1.

Meta Gene 2014 Dec 30;2:616-8. Epub 2014 Aug 30.

Department of Bioinformatics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.mgene.2014.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287846PMC
December 2014

A new strategy to identify and annotate human RPE-specific gene expression.

PLoS One 2010 Mar 9;5(5):e9341. Epub 2010 Mar 9.

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0009341PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2866542PMC
March 2010

Physiological thyroid hormone levels regulate numerous skeletal muscle transcripts.

J Clin Endocrinol Metab 2009 Sep 30;94(9):3487-96. Epub 2009 Jun 30.

Erasmus University Medical Center, Department of Internal Medicine, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2009-0782DOI Listing
September 2009

Functional annotation of the human retinal pigment epithelium transcriptome.

BMC Genomics 2009 Apr 20;10:164. Epub 2009 Apr 20.

Department of Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience (NIN), Amsterdam, the Netherlands.

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http://dx.doi.org/10.1186/1471-2164-10-164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2679759PMC
April 2009

Gene expression profiles associated with treatment response in oligodendrogliomas.

Cancer Res 2005 Dec;65(24):11335-44

Department of Neurology, Cancer Genomics Center, Erasmus Medical Center, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1158/0008-5472.CAN-05-1886DOI Listing
December 2005