Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions-Reference-Cited by-同舟云学术

Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

Published:2014-09-10 Issue:10 Volume:35 Page:1249-1259
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sharma Neeraj¹,Sosnay Patrick R.¹²,Ramalho Anabela S.³,Douville Christopher⁴,Franca Arianna¹,Gottschalk Laura B.¹,Park Jeenah¹,Lee Melissa¹,Vecchio-Pagan Briana¹,Raraigh Karen S.¹,Amaral Margarida D.³,Karchin Rachel²,Cutting Garry R.¹⁵

Affiliation:

1. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

2. Department of Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

3. Faculty of Sciences, BioFIG - Centre for Biodiversity, Functional and Integrative Genomics; University of Lisboa; Lisboa Portugal

4. Department of Biomedical Engineering, Institute for Computational Medicine; Johns Hopkins University; Baltimore Maryland

5. Department of Pediatrics; Johns Hopkins University School of Medicine; Baltimore Maryland

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

US CF Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference59 articles.

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2. Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level;Aissat;Hum Mutat,2013

3. NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region;Baralle;FEBS Lett,2006

4. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene;Bonnet;J Med Genet,2008

5. Isolation of CF cell lines corrected at DeltaF508-CFTR locus by SFHR-mediated targeting;Bruscia;Gene Ther,2002

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