Michela Raponi

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Jacquelyn Bond, Emma Roberts, Kelly Springell et al. · Nature Genetics · 2005 · 567 citations

Life Sciences, Molecular Genetics, Neuroscience +6

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution

Michela Raponi, Francisco E. Baralle · Proceedings of the National Academy of Sciences · 2005 · 247 citations · Full text

Life Sciences, Evolutionary Biology, Genetics +14

Prediction of single‐nucleotide substitutions that result in exon skipping: identification of a splicing silencer in<i>BRCA1</i>exon 6

Michela Raponi, Jana Královičová, Ellen Copson et al. · Human Mutation · 2011 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Miguel de la Hoya, Omar Soukarieh, Irene López‐Perolio et al. · Human Molecular Genetics · 2016 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Phillip J Whiley, Miguel de la Hoya, Mads Thomassen et al. · Clinical Chemistry · 2013 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17