Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene

Spectrum ofRB1mutations identified in 403 retinoblastoma patients

(2013) Elizabeth A Price et al.   JOURNAL OF MEDICAL GENETICS

Retinoblastoma

(2012) Helen Dimaras et al.   LANCET

LINE-1 Elements in Structural Variation and Disease

(2011) Christine R. Beck et al.   Annual Review of Genomics and Human Genetics

An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family

(2011) L. Samuelov et al.   BRITISH JOURNAL OF DERMATOLOGY

Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma

(2011) Vidya Latha Parsam et al.   JOURNAL OF BIOSCIENCES

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

(2011) Katharina Wimmer et al.   PLoS Genetics

A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma

(2010) Vidya Latha Parsam et al.   JOURNAL OF GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH