Colby Chiang
Colby Chiang
Boston Children's Hospital
Verified email at childrens.harvard.edu
Title
Cited by
Cited by
Year
Genetic effects on gene expression across human tissues
GTEx Consortium
Nature 550 (7675), 204-213, 2017
11472017
LUMPY: a probabilistic framework for structural variant discovery
RM Layer, C Chiang, AR Quinlan, IM Hall
Genome biology 15 (6), R84, 2014
6142014
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
4892012
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
2172015
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
2112012
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
1772011
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), 249-254, 2017
1762017
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
1612011
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), 36-45, 2017
1372017
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), 239-243, 2017
1232017
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
1132013
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), 692-699, 2017
1122017
Mutations in DCHS1 cause mitral valve prolapse
R Durst, K Sauls, DS Peal, A Devlaming, K Toomer, M Leyne, M Salani, ...
Nature 525 (7567), 109-113, 2015
832015
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
782017
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
752017
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
642015
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
562012
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
512013
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
482013
Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis
F Yang, J Wang, BL Pierce, LS Chen, F Aguet, KG Ardlie, BB Cummings, ...
Genome research 27 (11), 1859-1871, 2017
272017
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