Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia
- 30 May 2013
- journal article
- Published by American Society of Hematology in Blood
- Vol. 121 (22), e138-e148
- https://doi.org/10.1182/blood-2012-12-474585
Abstract
Key Points Application of capturing/sequencing, copy number, and RNA analysis technologies ensures comprehensive molecular diagnosis of Fanconi anemia.This publication has 23 references indexed in Scilit:
- Regulation of DNA cross-link repair by the Fanconi anemia/BRCA pathwayGenes & Development, 2012
- Diagnosis of Fanconi anemia in patients with bone marrow failureHaematologica, 2009
- Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencingNature Biotechnology, 2009
- Genome-wide in situ exon capture for selective resequencingNature Genetics, 2007
- Direct selection of human genomic loci by microarray hybridizationNature Methods, 2007
- Multiplex amplification of large sets of human exonsNature Methods, 2007
- Microarray-based genomic selection for high-throughput resequencingNature Methods, 2007
- Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe PhenotypeAmerican Journal of Human Genetics, 2007
- Genetic subtyping of Fanconi anemia by comprehensive mutation screeningHuman Mutation, 2007
- A novel ubiquitin ligase is deficient in Fanconi anemiaNature Genetics, 2003