Publications by authors named "Colby Chiang"

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Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection.
Martin Jinye Zhang, Arun Durvasula, Colby Chiang, Evan M Koch, Benjamin J Strober

medRxiv· December 2023

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Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection.
Martin Jinye Zhang, Arun Durvasula, Colby Chiang, Evan M Koch, Benjamin J Strober

Res Sq· December 2023

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Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes.
Alexandra J Scott, Colby Chiang, Ira M Hall

Genome Res· December 2021

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Association of structural variation with cardiometabolic traits in Finns.
Lei Chen, Haley J Abel, Indraniel Das, David E Larson, Liron Ganel, Colby Chiang, Charleston W K Chiang

Am J Hum Genet· April 2021

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Mapping and characterization of structural variation in 17,795 human genomes.
Haley J Abel, David E Larson, Allison A Regier, Colby Chiang, Indraniel Das

Nature· July 2020

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svtools: population-scale analysis of structural variation.
David E Larson, Haley J Abel, Colby Chiang, Abhijit Badve, Indraniel Das

Bioinformatics· November 2019

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Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.
Adam E Locke, Karyn Meltz Steinberg, Charleston W K Chiang, Susan K Service, Aki S Havulinna, Colby C Chiang

Nature· November 2019

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Exome sequencing of Finnish isolates enhances rare-variant association power.
Adam E Locke, Karyn Meltz Steinberg, Charleston W K Chiang, Susan K Service, Aki S Havulinna, Colby C Chiang

Nature· August 2019

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Identification of Drivers of Aneuploidy in Breast Tumors.
Katherine Pfister, Justyna L Pipka, Colby Chiang, Yunxian Liu, Royden A Clark

Cell Rep· May 2018

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The impact of rare variation on gene expression across tissues.
Xin Li, Yungil Kim, Emily K Tsang, Joe R Davis, Farhan N Damani, Colby Chiang

Nature· October 2017

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The impact of structural variation on human gene expression.
Colby Chiang, Alexandra J Scott, Joe R Davis, Emily K Tsang, Xin Li

Nat Genet· May 2017

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Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Colby Chiang

Nat Genet· May 2017

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Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Colby Chiang

Am J Med Genet A· February 2017

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Colby Chiang

Nat Genet· February 2017

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Colby Chiang

Nat Genet· January 2017

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Potential molecular consequences of transgene integration: The R6/2 mouse example.
Jessie C Jacobsen, Serkan Erdin, Colby Chiang, Carrie Hanscom, Renee R Handley

Sci Rep· January 2017

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The genome of the vervet (Chlorocebus aethiops sabaeus).
Wesley C Warren, Anna J Jasinska, Raquel García-Pérez, Hannes Svardal, Chad Tomlinson, Colby Chiang

Genome Res· December 2015

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SpeedSeq: ultra-fast personal genome analysis and interpretation.
Colby Chiang, Ryan M Layer, Gregory G Faust, Michael R Lindberg, David B Rose

Nat Methods· October 2015

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Mutations in DCHS1 cause mitral valve prolapse.
Ronen Durst, Kimberly Sauls, David S Peal, Annemarieke deVlaming, Katelynn Toomer, Colby Chiang

Nature· September 2015

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LUMPY: a probabilistic framework for structural variant discovery.
Ryan M Layer, Colby Chiang, Aaron R Quinlan, Ira M Hall

Genome Biol· June 2014

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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.
Amelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang

Hum Genet· May 2013

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Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.
Xiaoli Chen, Yiping Shen, Feng Zhang, Colby Chiang, Vamsee Pillalamarri

Am J Hum Genet· March 2013

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Samira Bahl, Colby Chiang, Roberta L Beauchamp, Benjamin M Neale, Mark J Daly

Mol Autism· March 2013

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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, Colby Chiang

Am J Hum Genet· February 2013

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Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Michael E Talkowski, Gilles Maussion, Liam Crapper, Jill A Rosenfeld, Ian Blumenthal, Colby Chiang

Am J Hum Genet· December 2012

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