Colby Chiang
Colby Chiang
Washington University School of Medicine
Verified email at wustl.edu
TitleCited byYear
Genetic effects on gene expression across human tissues
GTEx Consortium
Nature 550 (7675), 204, 2017
6092017
LUMPY: a probabilistic framework for structural variant discovery
RM Layer, C Chiang, AR Quinlan, IM Hall
Genome biology 15 (6), R84, 2014
4582014
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
ME Talkowski, JA Rosenfeld, I Blumenthal, V Pillalamarri, C Chiang, ...
Cell 149 (3), 525-537, 2012
4422012
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
C Chiang, JC Jacobsen, C Ernst, C Hanscom, A Heilbut, I Blumenthal, ...
Nature genetics 44 (4), 390, 2012
1902012
Assessment of 2q23. 1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
ME Talkowski, SV Mullegama, JA Rosenfeld, BWM Van Bon, Y Shen, ...
The American Journal of Human Genetics 89 (4), 551-563, 2011
1582011
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research
ME Talkowski, C Ernst, A Heilbut, C Chiang, C Hanscom, A Lindgren, ...
The American Journal of Human Genetics 88 (4), 469-481, 2011
1512011
SpeedSeq: ultra-fast personal genome analysis and interpretation
C Chiang, RM Layer, GG Faust, MR Lindberg, DB Rose, EP Garrison, ...
Nature methods 12 (10), 966-968, 2015
1432015
Dynamic landscape and regulation of RNA editing in mammals
MH Tan, Q Li, R Shanmugam, R Piskol, J Kohler, AN Young, KI Liu, ...
Nature 550 (7675), 249, 2017
1142017
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ...
The American Journal of Human Genetics 92 (2), 210-220, 2013
1002013
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36, 2017
982017
The impact of rare variation on gene expression across tissues
X Li, Y Kim, EK Tsang, JR Davis, FN Damani, C Chiang, GT Hess, ...
Nature 550 (7675), 239, 2017
802017
The impact of structural variation on human gene expression
C Chiang, AJ Scott, JR Davis, EK Tsang, X Li, Y Kim, T Hadzic, ...
Nature genetics 49 (5), 692, 2017
712017
Mutations in DCHS1 cause mitral valve prolapse
R Durst, K Sauls, DS Peal, A Devlaming, K Toomer, M Leyne, M Salani, ...
Nature 525 (7567), 109, 2015
612015
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ...
Nature genetics 49 (2), 238, 2017
602017
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities
ME Talkowski, G Maussion, L Crapper, JA Rosenfeld, I Blumenthal, ...
The American Journal of Human Genetics 91 (6), 1128-1134, 2012
532012
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
A Saha, Y Kim, ADH Gewirtz, B Jo, C Gao, IC McDowell, BE Engelhardt, ...
Genome research 27 (11), 1843-1858, 2017
482017
The genome of the vervet (Chlorocebus aethiops sabaeus)
WC Warren, AJ Jasinska, R García-Pérez, H Svardal, C Tomlinson, ...
Genome research 25 (12), 1921-1933, 2015
442015
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
AM Lindgren, T Hoyos, ME Talkowski, C Hanscom, I Blumenthal, ...
Human genetics 132 (5), 537-552, 2013
432013
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs
X Chen, Y Shen, F Zhang, C Chiang, V Pillalamarri, I Blumenthal, ...
The American Journal of Human Genetics 92 (3), 375-386, 2013
432013
Mechanisms for Structural Variation in the Human Genome
BB Currall, C Chiang, ME Talkowski, CC Morton
Current Genetic Medicine Reports 1 (2), 81-90, 2013
202013
The system can't perform the operation now. Try again later.
Articles 1–20