Stephanie S Cornelis

Stephanie S Cornelis

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Stephanie S Cornelis

Stephanie S Cornelis

Publications by authors named "Stephanie S Cornelis"

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11Publications

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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Genet Med 2020 Apr 20. Epub 2020 Apr 20.

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

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http://dx.doi.org/10.1038/s41436-020-0787-4DOI Listing
April 2020

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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http://dx.doi.org/10.1002/humu.23890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899986PMC
December 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

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.

Invest Ophthalmol Vis Sci 2018 11;59(13):5566-5568

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

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http://dx.doi.org/10.1167/iovs.18-25944DOI Listing
November 2018

midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Res 2018 01 21;28(1):100-110. Epub 2017 Nov 21.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1101/gr.226621.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749174PMC
January 2018

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.

Hum Mutat 2017 04 3;38(4):400-408. Epub 2017 Feb 3.

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

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http://dx.doi.org/10.1002/humu.23165DOI Listing
April 2017