List of works - Colby Chiang

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

scientific article

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

scientific article

Cover Image, Volume 173A, Number 2, February 2017

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

scientific article

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

scientific article published on 25 January 2013

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

scientific article published on December 2012

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

scientific article published on 19 October 2016

LUMPY: a probabilistic framework for structural variant discovery.

scientific article

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

scientific article published on 20 March 2013

Mapping and characterization of structural variation in 17,795 human genomes

scientific article published on 27 May 2020

Mechanisms for Structural Variation in the Human Genome

scientific article

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

scientific article published on March 2013

Mutations in DCHS1 cause mitral valve prolapse

scientific journal article

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

scientific article

Potential molecular consequences of transgene integration: The R6/2 mouse example

scientific article published on 25 January 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

scientific article published on 19 April 2012

SpeedSeq: ultra-fast personal genome analysis and interpretation

scientific article

The genome of the vervet (Chlorocebus aethiops sabaeus)

scientific article published on 16 September 2015

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The impact of structural variation on human gene expression

scientific article published on 3 April 2017

List of works by Colby Chiang

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Cover Image, Volume 173A, Number 2, February 2017

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

LUMPY: a probabilistic framework for structural variant discovery.

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

Mapping and characterization of structural variation in 17,795 human genomes

Mechanisms for Structural Variation in the Human Genome

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

Mutations in DCHS1 cause mitral valve prolapse

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

Potential molecular consequences of transgene integration: The R6/2 mouse example

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

SpeedSeq: ultra-fast personal genome analysis and interpretation

The genome of the vervet (Chlorocebus aethiops sabaeus)

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The impact of structural variation on human gene expression