Colby Chiang, MD, PhD
Attending Physician, Division of Genetics and Genomics
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Colby Chiang, MD, PhD
Attending Physician, Division of Genetics and Genomics
Medical Services
Languages
English
Education
Undergraduate School
Dartmouth College
2010
Hanover
NH
Graduate School
Washington University in St. Louis
2019
St. Louis
MO
Medical School
Washington University in St. Louis
2019
St. Louis
MO
Residency
Pediatrics
Boston Combined Residency Program (BCRP)
2022
Boston
MA
Fellowship
Medical Genetics and Genomics
Boston Children's Hospital
2025
Boston
AK
Certifications
American Board of Pediatrics (General)
Publications
Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection. View Abstract
Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection. View Abstract
Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes. View Abstract
Association of structural variation with cardiometabolic traits in Finns. View Abstract
Mapping and characterization of structural variation in 17,795 human genomes. View Abstract
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power. View Abstract
svtools: population-scale analysis of structural variation. View Abstract
Exome sequencing of Finnish isolates enhances rare-variant association power. View Abstract
Identification of Drivers of Aneuploidy in Breast Tumors. View Abstract
The impact of rare variation on gene expression across tissues. View Abstract
The impact of structural variation on human gene expression. View Abstract
Potential molecular consequences of transgene integration: The R6/2 mouse example. View Abstract
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. View Abstract
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. View Abstract
The genome of the vervet (Chlorocebus aethiops sabaeus). View Abstract
Mutations in DCHS1 cause mitral valve prolapse. View Abstract
SpeedSeq: ultra-fast personal genome analysis and interpretation. View Abstract
LUMPY: a probabilistic framework for structural variant discovery. View Abstract
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. View Abstract
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. View Abstract
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. View Abstract
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. View Abstract
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. View Abstract
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. View Abstract
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. View Abstract
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. View Abstract