Colby Chiang
Boston Children's Hospital(US)Boston Children's Museum(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genomics and Chromatin Dynamics, Genetic Associations and Epidemiology
Most-Cited Works
- → LUMPY: a probabilistic framework for structural variant discovery(2014)1,733 cited
- → Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics(2018)1,189 cited
- → SpeedSeq: ultra-fast personal genome analysis and interpretation(2015)647 cited
- → Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries(2012)594 cited
- → The impact of structural variation on human gene expression(2017)531 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → Mapping and characterization of structural variation in 17,795 human genomes(2020)348 cited
- → The impact of rare variation on gene expression across tissues(2017)289 cited
- → Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration(2012)259 cited
- → Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder(2011)246 cited