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C. Chiang · SciRah

Researcher profile · Semantic Scholar

C. Chiang

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C. Chiang — researcher profile on SciRah

h-index: 25
Works: 43
Citations: 6,998

Most-cited papers

LUMPY: a probabilistic framework for structural variant discovery
R. Layer, C. Chiang, A. Quinlan, Ira M. Hall
2012Genome Biology1,468 citations Open access
Semantic Scholar
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
A. Barbeira, Scott P. Dickinson, Rodrigo Bonazzola, Jiamao Zheng +241 more
2016Nature Communications1,077 citations Open access
Semantic Scholar
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
M. Talkowski, J. Rosenfeld, Ian Blumenthal, V. Pillalamarri +31 more
2012Cell594 citations Open access
Semantic Scholar
SpeedSeq: Ultra-fast personal genome analysis and interpretation
C. Chiang, R. Layer, G. Faust, Michael R. Lindberg +5 more
2014Nature Methods548 citations Open access
Semantic Scholar
The impact of structural variation on human gene expression
C. Chiang, A. Scott, Joe R. Davis, Emily K. Tsang +9 more
2016Nature Genetics446 citations Open access
Semantic Scholar
The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies
C. Redin, H. Brand, Ryan L. Collins, T. Kammin +145 more
2016Nature Genetics290 citations Open access
Semantic Scholar
Mapping and characterization of structural variation in 17,795 human genomes
H. Abel, D. Larson, Allison A. Regier, C. Chiang +15 more
2020Nature253 citations Open access
Semantic Scholar
The impact of rare variation on gene expression across tissues
Xin Li, Yungil Kim, Emily K. Tsang, Joe R. Davis +71 more
2016Nature253 citations Open access
Semantic Scholar
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
C. Chiang, J. Jacobsen, Carl Ernst, C. Hanscom +21 more
2012Nature Genetics253 citations Open access
Semantic Scholar
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
M. Talkowski, S. Mullegama, J. Rosenfeld, B. V. van Bon +31 more
2011American Journal of Human Genetics208 citations Open access
Semantic Scholar
Mutations in DCHS1 Cause Mitral Valve Prolapse
R. Durst, Kimberly Sauls, David S. Peal, Annemarieke deVlaming +46 more
2015Nature187 citations Open access
Semantic Scholar
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
M. Talkowski, Carl Ernst, Adrian Heilbut, C. Chiang +11 more
2011American Journal of Human Genetics179 citations Open access
Semantic Scholar
Exome sequencing of Finnish isolates enhances rare-variant association power
A. Locke, K. Steinberg, Charleston W. K. Chiang, S. Service +38 more
2019Nature169 citations Open access
Semantic Scholar
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, L. Pardo +59 more
2013American Journal of Human Genetics168 citations Open access
Semantic Scholar
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
N. Shaw, H. Brand, Zachary A. Kupchinsky, Hemant Bengani +74 more
2017Nature Genetics148 citations Open access
Semantic Scholar
The genome of the vervet (Chlorocebus aethiops sabaeus)
W. Warren, A. Jasinska, Raquel García-Pérez, H. Svardal +54 more
2015Genome Research126 citations Open access
Semantic Scholar
Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes
A. Scott, C. Chiang, Ira M. Hall
2021bioRxiv106 citations Open access
Semantic Scholar
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
Amelia M. Lindgren, Tatiana Hoyos, M. Talkowski, C. Hanscom +16 more
2013Human Genetics73 citations Open access
Semantic Scholar
svtools: population-scale analysis of structural variation
D. Larson, H. Abel, C. Chiang, A. Badve +4 more
2018bioRxiv61 citations Open access
Semantic Scholar
Identification of Drivers of Aneuploidy in Breast Tumors
K. Pfister, Justyna L. Pipka, C. Chiang, Yun-Xian Liu +6 more
2018Cell Reports51 citations Open access
Semantic Scholar
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.
Xiao-Li Chen, Yi-Ping Shen, Feng Zhang, C. Chiang +5 more
2013American Journal of Human Genetics49 citations Open access
Semantic Scholar
Disruption of a Large Intergenic Noncoding Rna in Subjects with Neurodevelopmental Disabilities Accessed Terms of Use Detailed Terms
Citation Talkowski, M. E, G. Maussion, L. Crapper +4 more
45 citations
Semantic Scholar
Implication of LRRC4C and DPP6 in neurodevelopmental disorders
G. Maussion, C. Cruceanu, J. Rosenfeld, Scott C. Bell +28 more
2016American Journal of Medical Genetics. Part A44 citations Open access
Semantic Scholar
Mechanisms for Structural Variation in the Human Genome
Benjamin B. Currall, C. Chiang, M. Talkowski, C. Morton
2013Current Genetic Medicine Reports43 citations Open access
Semantic Scholar
Association of Structural Variation with Cardiometabolic Traits in Finns
Lei Chen, H. Abel, I. Das, D. Larson +22 more
2020bioRxiv31 citations Open access
Semantic Scholar
Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes
H. Abel, D. Larson, C. Chiang, I. Das +13 more
2018bioRxiv25 citations Open access
Semantic Scholar
Highly penetrant alterations of a critical region including BDNF contribute to human psychopathology
Carl Ernst, C. Marshall, Yi-Ping Shen, K. Metcalfe +25 more
2012Archives of General Psychiatry24 citations Open access
Semantic Scholar
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
M. Talkowski, Gilles Maussion, L. Crapper, J. A. Rosenfeld +28 more
2012American Journal of Human Genetics21 citations Open access
Semantic Scholar
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder
S. Bahl, C. Chiang, R. Beauchamp, B. Neale +4 more
2013Molecular Autism20 citations Open access
Semantic Scholar
Disruption of a Large Intergenic Noncoding Rna in Subjects with Neurodevelopmental Disabilities
M. Talkowski, Gilles Maussion, L. Crapper, J. A. Rosenfeld +28 more
20 citations
Semantic Scholar
Potential molecular consequences of transgene integration: The R6/2 mouse example
J. Jacobsen, S. Erdin, C. Chiang, C. Hanscom +11 more
2017Scientific Reports12 citations Open access
Semantic Scholar
Identification of drivers of aneuploidy in breast tumors Identification of drivers of aneuploidy in breast tumors
K. Pfister, Justyna L. Pipka, C. Chiang, Michael J. Guertin +6 more
8 citations
Semantic Scholar
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
N. Shaw, H. Brand, Zachary A. Kupchinsky, Hemant Bengani +74 more
2017Nature Genetics4 citations Open access
Semantic Scholar
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power
A. Locke, K. Steinberg, Charleston W. K. Chiang, S. Service +38 more
2019Nature3 citations Open access
Semantic Scholar
Exploring the Phenotypic Consequences of Tissue Specific Gene Exploring the Phenotypic Consequences of Tissue Specific Gene Expression Variation Inferred from GWAS Summary Statistics Expression Variation Inferred from GWAS Summary Statistics
F. Aguet, K. Ardlie, B. Cummings, E. Gelfand +92 more
20211 citations
Semantic Scholar
Exome sequencing identifies high-impact trait-associated alleles enriched in Finns
A. Locke, Karyn Meltz Steinberg, C. Chiang, S. Service +38 more
20181 citations Open access
Semantic Scholar
LUMPY: a probabilistic framework for structural variant discovery
R. Layer, C. Chiang, A. Quinlan, Ira M. Hall
2014Genome Biology1 citations Open access
Semantic Scholar
Correlations between causal effect sizes of proximal SNPs vary with functional annotations and implicate stabilizing selection
M. Zhang, Arun Durvasula, C. Chiang, E. Koch +9 more
2026Nature Genetics0 citations Open access
Semantic Scholar
Cover Image, Volume 173A, Number 2, February 2017.
G. Maussion, C. Cruceanu, J. Rosenfeld, Scott C. Bell +28 more
2017American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
A framework for predicting tissue-specific 1 effects of rare genetic variants 2
Farhan N. Damani, Yungil Kim, Xin Li, Emily K. Tsang +10 more
20170 citations
Semantic Scholar
The impact of rare variation on gene expression across tissues 1
Xin Li, Yungil Kim, Emily K. Tsang, Joe R. Davis +10 more
20160 citations
Semantic Scholar
Erratum to: Mechanisms for Structural Variation in the Human Genome
Benjamin B. Currall, C. Chiang, M. Talkowski, C. Morton
2013Current Genetic Medicine Reports0 citations Open access
Semantic Scholar

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