Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

Unclassified variants identified inBRCA1exon 11: Consequences on splicing

(2008) Olga Anczuków et al.   GENES CHROMOSOMES & CANCER

Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk

(2008) Xiaowei Chen et al.   HUMAN MOLECULAR GENETICS

Nature and mRNA effect of 282 differentNF1point mutations: focus on splicing alterations

(2008) Eva Pros et al.   HUMAN MUTATION

Patterns of missplicing caused byRB1gene mutations in patients with retinoblastoma and association with phenotypic expression

(2008) Katherine Zhang et al.   HUMAN MUTATION

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer et al.   HUMAN MUTATION

Germline Allele-Specific Expression of TGFBR1 Confers an Increased Risk of Colorectal Cancer

(2008) L. Valle et al.   SCIENCE

Differential Allelic Expression in the Human Genome: A Robust Approach To Identify Genetic and Epigenetic Cis-Acting Mechanisms Regulating Gene Expression

(2008) David Serre et al.   PLoS Genetics

Genetic Variants of Uncertain Significance: Flies in the Ointment

(2007) Susan Domchek et al.   JOURNAL OF CLINICAL ONCOLOGY