Publications by authors named "Susanne Roosing"

41Publications

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 11 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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November 2019

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

Hum Mutat 2019 12 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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December 2019

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

Mol Genet Genomic Med 2019 06 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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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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April 2019

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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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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August 2016

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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August 2015

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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December 2015

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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August 2014

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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September 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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March 2014

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

Am J Hum Genet 2012 Sep 16;91(3):527-32. Epub 2012 Aug 16.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.

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September 2012

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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September 2007