Colby Chiang
Colby Chiang
Boston Children's Hospital
Potvrđena adresa e-pošte na
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ...
Nature 550 (7675), 204-213, 2017
LUMPY: a probabilistic framework for structural variant discovery
RM Layer, C Chiang, AR Quinlan, IM Hall
Genome biology 15 (6), 1-19, 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
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), 249-254, 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), 692-699, 2017
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
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), 390-397, 2012
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
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
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
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
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), 238-248, 2017
Mapping and characterization of structural variation in 17,795 human genomes
HJ Abel, DE Larson, AA Regier, C Chiang, I Das, KL Kanchi, RM Layer, ...
Nature 583 (7814), 83-89, 2020
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
Exome sequencing of Finnish isolates enhances rare-variant association power
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, ...
Nature 572 (7769), 323-328, 2019
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, 537-552, 2013
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
Sustav trenutno ne može provesti ovu radnju. Pokušajte ponovo kasnije.
Članci 1–20