Associated Papers
Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation.
Wang Y et al.
Journal of Assisted Reproduction and Genetics, 2020
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.
Ellis JR et al.
Genes, Chromosomes & Cancer, 2011
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.
Sestini R et al.
Genetic Testing, 2008
Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.
Wallace AJ et al.
Genetic Testing, 2004
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