LUMPY: a probabilistic framework for structural variant discovery

by Layer, Ryan M, Chiang, Colby, Quinlan, Aaron R, Hall, Ira M
Published 2014

Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs

by Chen, Xiaoli, Shen, Yiping, Zhang, Feng, Chiang, Colby, Pillalamarri, Vamsee, Blumenthal, Ian, Talkowski, Michael, Wu, Bai-Lin, Gusella, James F.
Published 2013

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

by Bahl, Samira, Chiang, Colby, Beauchamp, Roberta L, Neale, Benjamin M, Daly, Mark J, Gusella, James F, Talkowski, Michael E, Ramesh, Vijaya
Published 2013

svtools: population-scale analysis of structural variation

by Larson, David E, Abel, Haley J, Chiang, Colby, Badve, Abhijit, Das, Indraniel, Eldred, James M, Layer, Ryan M, Hall, Ira M
Published in Bioinformatics (2019)

SpeedSeq: Ultra-fast personal genome analysis and interpretation

by Chiang, Colby, Layer, Ryan M., Faust, Gregory G., Lindberg, Michael R., Rose, David B., Garrison, Erik P., Marth, Gabor T., Quinlan, Aaron R., Hall, Ira M.
Published in Nat Methods (2015)

Identification of Drivers of Aneuploidy in Breast Tumors

by Pfister, Katherine, Pipka, Justyna L., Chiang, Colby, Liu, Yunxian, Clark, Royden A., Keller, Ray, Skoglund, Paul, Guertin, Michael J., Hall, Ira M., Stukenberg, P. Todd
Published in Cell Rep (2018)

The impact of structural variation on human gene expression

by Chiang, Colby, Scott, Alexandra J., Davis, Joe R., Tsang, Emily K., Li, Xin, Kim, Yungil, Hadzic, Tarik, Damani, Farhan N., Ganel, Liron, Montgomery, Stephen B., Battle, Alexis, Conrad, Donald F., Hall, Ira M.
Published in Nat Genet (2017)

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

by Talkowski, Michael E., Ernst, Carl, Heilbut, Adrian, Chiang, Colby, Hanscom, Carrie, Lindgren, Amelia, Kirby, Andrew, Liu, Shangtao, Muddukrishna, Bhavana, Ohsumi, Toshiro K., Shen, Yiping, Borowsky, Mark, Daly, Mark J., Morton, Cynthia C., Gusella, James F.
Published 2011

Potential molecular consequences of transgene integration: The R6/2 mouse example

by Jacobsen, Jessie C., Erdin, Serkan, Chiang, Colby, Hanscom, Carrie, Handley, Renee R., Barker, Douglas D., Stortchevoi, Alex, Blumenthal, Ian, Reid, Suzanne J., Snell, Russell G., MacDonald, Marcy E., Morton, A. Jennifer, Ernst, Carl, Gusella, James F., Talkowski, Michael E.
Published in Sci Rep (2017)

The impact of rare variation on gene expression across tissues

by Li, Xin, Kim, Yungil, Tsang, Emily K., Davis, Joe R., Damani, Farhan N., Chiang, Colby, Hess, Gaelen T., Zappala, Zachary, Strober, Benjamin J., Scott, Alexandra J., Li, Amy, Ganna, Andrea, Bassik, Michael C., Merker, Jason D., Hall, Ira M., Battle, Alexis, Montgomery, Stephen B.
Published in Nature (2017)

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

by Lindgren, Amelia M., Hoyos, Tatiana, Talkowski, Michael E., Hanscom, Carrie, Blumenthal, Ian, Chiang, Colby, Ernst, Carl, Pereira, Shahrin, Ordulu, Zehra, Clericuzio, Carol, Drautz, Joanne M., Rosenfeld, Jill A., Shaffer, Lisa G., Velsher, Lea, Pynn, Tania, Vermeesch, Joris, Harris, David J., Gusella, James F., Liao, Eric C., Morton, Cynthia C.
Published 2013

Mapping and characterization of structural variation in 17,795 human genomes

by Abel, Haley J., Larson, David E., Regier, Allison A., Chiang, Colby, Das, Indraniel, Kanchi, Krishna L., Layer, Ryan M., Neale, Benjamin M., Salerno, William J., Reeves, Catherine, Buyske, Steven, Matise, Tara C., Muzny, Donna M., Zody, Michael C., Lander, Eric S., Dutcher, Susan K., Stitziel, Nathan O., Hall, Ira M.
Published in Nature (2020)

Association of structural variation with cardiometabolic traits in Finns

by Chen, Lei, Abel, Haley J., Das, Indraniel, Larson, David E., Ganel, Liron, Kanchi, Krishna L., Regier, Allison A., Young, Erica P., Kang, Chul Joo, Scott, Alexandra J., Chiang, Colby, Wang, Xinxin, Lu, Shuangjia, Christ, Ryan, Service, Susan K., Chiang, Charleston W.K., Havulinna, Aki S., Kuusisto, Johanna, Boehnke, Michael, Laakso, Markku, Palotie, Aarno, Ripatti, Samuli, Freimer, Nelson B., Locke, Adam E., Stitziel, Nathan O., Hall, Ira M.
Published in Am J Hum Genet (2021)

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

by Chiang, Colby, Jacobsen, Jessie C., Ernst, Carl, Hanscom, Carrie, Heilbut, Adrian, Blumenthal, Ian, Mills, Ryan E., Kirby, Andrew, Lindgren, Amelia M., Rudiger, Skye R., McLaughlan, Clive J., Bawden, C. Simon, Reid, Suzanne J., Faull, Richard L. M., Snell, Russell G., Hall, Ira M., Shen, Yiping, Ohsumi, Toshiro K., Borowsky, Mark L., Daly, Mark J., Lee, Charles, Morton, Cynthia C., MacDonald, Marcy E., Gusella, James F., Talkowski, Michael E.
Published 2012

Highly penetrant alterations of a critical region including BDNF contribute to human psychopathology

by Ernst, Carl, Marshall, Christian R., Shen, Yiping, Metcalfe, Kay, Rosenfeld, Jill, Hodge, Jennelle C., Torres, Alcy, Blumenthal, Ian, Chiang, Colby, Pillalamarri, Vamsee, Crapper, Liam, Diallo, Alpha B., Ruderfer, Douglas, Pereira, Shahrin, Sklar, Pamela, Purcell, Shaun, Wildin, Robert S., Spencer, Anne C., Quade, Bradley F., Harris, David J., Lemyre, Emanuelle, Wu, Bailin, Stavropoulos, Dimitri J., Geraghty, Michael T., Shaffer, Lisa G., Morton, Cynthia C, Scherer, Stephen W., Gusella, James F., Talkowski, Michael E.
Published 2012

Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

by Talkowski, Michael E., Maussion, Gilles, Crapper, Liam, Rosenfeld, Jill A., Blumenthal, Ian, Hanscom, Carrie, Chiang, Colby, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Diallo, Alpha B., Lopez, Juan Pablo, Turecki, Gustavo, Chen, Elizabeth S., Gigek, Carolina, Harris, David J., Lip, Va, An, Yu, Biagioli, Marta, MacDonald, Marcy E., Lin, Michael, Haggarty, Stephen J., Sklar, Pamela, Purcell, Shaun, Kellis, Manolis, Schwartz, Stuart, Shaffer, Lisa G., Natowicz, Marvin R., Shen, Yiping, Morton, Cynthia C., Gusella, James F., Ernst, Carl
Published 2012

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

by Maussion, Gilles, Cruceanu, Cristiana, Rosenfeld, Jill A., Bell, Scott C., Jollant, Fabrice, Szatkiewicz, Jin, Collins, Ryan L., Hanscom, Carrie, Kolobova, Ilaria, de Champfleur, Nicolas Menjot, Blumenthal, Ian, Chiang, Colby, Ota, Vanessa, Hultman, Christina, O’Dushlaine, Colm, McCarroll, Steve, Alda, Martin, Jacquemont, Sebastien, Ordulu, Zehra, Marshall, Christian R., Carter, Melissa T., Shaffer, Lisa G., Sklar, Pamela, Girirajan, Santhosh, Morton, Cynthia C., Gusella, James F., Turecki, Gustavo, Stavropoulos, D. J., Sullivan, Patrick F., Scherer, Stephen W., Talkowski, Michael E., Ernst, Carl
Published in Am J Med Genet A (2016)

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries

by Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David, Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.
Published 2012

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

by Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.
Published 2011

Exome sequencing of Finnish isolates enhances rare-variant association power

by Locke, Adam E, Steinberg, Karyn Meltz, Chiang, Charleston WK, Service, Susan K, Havulinna, Aki S, Stell, Laurel, Pirinen, Matti, Abel, Haley J, Chiang, Colby C, Fulton, Robert S, Jackson, Anne U, Kang, Chul Joo, Kanchi, Krishna L, Koboldt, Daniel C, Larson, David E, Nelson, Joanne, Nicholas, Thomas J, Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J, Stringham, Heather M, Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G, Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K, Stitziel, Nathan O, Wilson, Richard K, Hall, Ira M, Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, Freimer, Nelson B
Published in Nature (2019)