Susanne Roosing

Susanne Roosing

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Susanne Roosing

Susanne Roosing

Publications by authors named "Susanne Roosing"

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Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Hum Mutat 2019 Dec 3;40(12):2365-2376. Epub 2019 Sep 3.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.23890DOI Listing
December 2019

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.

Orphanet J Rare Dis 2019 Nov 12;14(1):249. Epub 2019 Nov 12.

Erasmus MC, Center for Lysosomal and Metabolic disease, Department of Internal Medicine, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-019-1232-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852993PMC
November 2019

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.

Mol Genet Genomic Med 2019 Jun 4;7(6):e660. Epub 2019 Apr 4.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.660
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http://dx.doi.org/10.1002/mgg3.660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565574PMC
June 2019

Identification and Analysis of Genes Associated with Inherited Retinal Diseases.

Methods Mol Biol 2019 ;1834:3-27

Department of Human Genetics, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://link.springer.com/10.1007/978-1-4939-8669-9_1
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http://dx.doi.org/10.1007/978-1-4939-8669-9_1DOI Listing
April 2019

Homozygous variants in , encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

J Med Genet 2018 10 17;55(10):705-712. Epub 2018 Aug 17.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2018-105364DOI Listing
October 2018

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Am J Hum Genet 2017 Sep 17;101(3):441-450. Epub 2017 Aug 17.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590949PMC
September 2017

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

Hum Genet 2016 08 31;135(8):919-921. Epub 2016 May 31.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1007/s00439-016-1689-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955754PMC
August 2016

Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.

Eur J Hum Genet 2015 Dec 15;23(12). Epub 2015 Apr 15.

Department of Ophthalmology, University Vita Salute San Raffaele, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2015.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795210PMC
December 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

Causes and consequences of inherited cone disorders.

Prog Retin Eye Res 2014 Sep 22;42:1-26. Epub 2014 May 22.

Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2014.05.001DOI Listing
September 2014

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

Am J Hum Genet 2014 Aug 10;95(2):131-42. Epub 2014 Jul 10.

Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129401PMC
August 2014

Prenylation defects in inherited retinal diseases.

J Med Genet 2014 Mar 8;51(3):143-51. Epub 2014 Jan 8.

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

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http://dx.doi.org/10.1136/jmedgenet-2013-102138DOI Listing
March 2014

Salmonella induces prominent gene expression in the rat colon.

BMC Microbiol 2007 Sep 12;7:84. Epub 2007 Sep 12.

TI Food and Nutrition, PO Box 557, 6700 AN, Wageningen, The Netherlands.

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http://dx.doi.org/10.1186/1471-2180-7-84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2048963PMC
September 2007