|Genetic effects on gene expression across human tissues|
Nature 550 (7675), 204, 2017
|LUMPY: a probabilistic framework for structural variant discovery|
RM Layer, C Chiang, AR Quinlan, IM Hall
Genome biology 15 (6), R84, 2014
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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