Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation

by Choi, Jinmyung, Shooshtari, Parisa, Samocha, Kaitlin E., Daly, Mark J., Cotsapas, Chris
Published 2016

Autosomal monoallelic expression in the mouse

by Zwemer, Lillian M, Zak, Alexander, Thompson, Benjamin R, Kirby, Andrew, Daly, Mark J, Chess, Andrew, Gimelbrant, Alexander A
Published 2012

Genetic mapping of a modifier locus affecting hypertension in soluble guanylate cyclase α1 deficient mice

by Buys, Emmanuel S, Raher, Michael J, Kirby, Andrew, Hayton, Sarah R, Tainsh, Laurel T, Sips, Patrick Y, Brouckaert, Peter, Daly, Mark J, Bloch, Kenneth D
Published 2011

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

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

by Ruderfer, Douglas M., Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J., Kavanagh, David, Samocha, Kaitlin E., Daly, Mark J., MacArthur, Daniel G., Fromer, Menachem, Purcell, Shaun M.
Published 2016

Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD

by Wagner, Erin K., Raychaudhuri, Soumya, Villalonga, Mercedes B., Java, Anuja, Triebwasser, Michael P., Daly, Mark J., Atkinson, John P., Seddon, Johanna M.
Published 2016

Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels

by Kavanagh, David, Yu, Yi, Schramm, Elizabeth C., Triebwasser, Michael, Wagner, Erin K., Raychaudhuri, Soumya, Daly, Mark J., Atkinson, John P., Seddon, Johanna M.
Published 2015

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

by Raychaudhuri, Soumya, Iartchouk, Oleg, Chin, Kimberly, Tan, Perciliz L., Tai, Albert, Ripke, Stephan, Gowrisankar, Sivakumar, Vemuri, Soumya, Montgomery, Kate, Yu, Yi, Reynolds, Robyn, Zack, Donald J., Campochiaro, Betsy, Campochiaro, Peter, Katsanis, Nicholas, Daly, Mark J., Seddon, Johanna M.
Published 2011

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

by He, Xin, Sanders, Stephan J., Liu, Li, De Rubeis, Silvia, Lim, Elaine T., Sutcliffe, James S., Schellenberg, Gerard D., Gibbs, Richard A., Daly, Mark J., Buxbaum, Joseph D., State, Matthew W., Devlin, Bernie, Roeder, Kathryn
Published 2013

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

by Seddon, Johanna M., Yu, Yi, Miller, Elizabeth C., Reynolds, Robyn, Tan, Perciliz L., Gowrisankar, Sivakumar, Goldstein, Jacqueline I., Triebwasser, Michael, Anderson, Holly E., Zerbib, Jennyfer, Kavanagh, David, Souied, Eric, Katsanis, Nicholas, Daly, Mark J., Atkinson, John, Raychaudhuri, Soumya
Published 2013

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

by Grimm, Dominik G., Azencott, Chloé‐Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David N., Stenson, Peter D., Daly, Mark J., Smoller, Jordan W., Duncan, Laramie E., Borgwardt, Karsten M.
Published 2015

An Atlas of Genetic Correlations across Human Diseases and Traits

by Bulik-Sullivan, Brendan, Finucane, Hilary K, Anttila, Verneri, Gusev, Alexander, Day, Felix R., Loh, Po-Ru, Duncan, Laramie, Perry, John R.B., Patterson, Nick, Robinson, Elise B., Daly, Mark J., Price, Alkes L., Neale, Benjamin M.
Published 2015

The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort

by Robinson, Elise B., Kirby, Andrew, Ruparel, Kosha, Yang, Jian, McGrath, Lauren, Anttila, Verneri, Neale, Benjamin M., Merikangas, Kathleen, Lehner, Thomas, Sleiman, Patrick M.A., Daly, Mark J., Gur, Ruben, Gur, Raquel, Hakonarson, Hakon
Published 2014

Pervasive Sharing of Genetic Effects in Autoimmune Disease

by Cotsapas, Chris, Voight, Benjamin F., Rossin, Elizabeth, Lage, Kasper, Neale, Benjamin M., Wallace, Chris, Abecasis, Gonçalo R., Barrett, Jeffrey C., Behrens, Timothy, Cho, Judy, De Jager, Philip L., Elder, James T., Graham, Robert R., Gregersen, Peter, Klareskog, Lars, Siminovitch, Katherine A., van Heel, David A., Wijmenga, Cisca, Worthington, Jane, Todd, John A., Hafler, David A., Rich, Stephen S., Daly, Mark J.
Published 2011

Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches

by Pinto, Ricardo Mouro, Dragileva, Ella, Kirby, Andrew, Lloret, Alejandro, Lopez, Edith, St. Claire, Jason, Panigrahi, Gagan B., Hou, Caixia, Holloway, Kim, Gillis, Tammy, Guide, Jolene R., Cohen, Paula E., Li, Guo-Min, Pearson, Christopher E., Daly, Mark J., Wheeler, Vanessa C.
Published 2013

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders

by Gupta, Abha R, Pirruccello, Michelle, Cheng, Feng, Kang, Hyo Jung, Fernandez, Thomas V, Baskin, Jeremy M, Choi, Murim, Liu, Li, Ercan-Sencicek, Adife Gulhan, Murdoch, John D, Klei, Lambertus, Neale, Benjamin M, Franjic, Daniel, Daly, Mark J, Lifton, Richard P, De Camilli, Pietro, Zhao, Hongyu, Šestan, Nenad, State, Matthew W
Published 2014

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

by Robinson, Elise B., St. Pourcain, Beate, Anttila, Verneri, Kosmicki, Jack A., Bulik-Sullivan, Brendan, Grove, Jakob, Maller, Julian, Samocha, Kaitlin E., Sanders, Stephan J., Ripke, Stephan, Martin, Joanna, Hollegaard, Mads V., Werge, Thomas, Hougaard, David M., Neale, Benjamin M., Evans, David M., Skuse, David, Mortensen, Preben Bo, Børglum, Anders D., Ronald, Angelica, Smith, George Davey, Daly, Mark J.
Published 2016

Androgen-sensitive hypertension associated with soluble guanylate cyclase alpha1 deficiency is mediated by 20-HETE

by Vandenwijngaert, Sara, Dordea, Ana C, Garcia, Victor, Tainsh, Robert E, Nathan, Daniel I, Raher, Michael J, Allen, Kaitlin, Zhang, Fan, Lieb, Wolfgang S, Mikelman, Sarah, Kirby, Andrew, Stevens, Christine, Thoonen, Robrecht, Hindle, Allyson, Sips, Patrick Y, Malhotra, Rajeev, Daly, Mark J, Brouckaert, Peter, Bloch, Kenneth D, Schwartzman, Michal, Buys, Emmanuel S
Published 2015

Schizophrenia risk from complex variation of complement component 4

by Sekar, Aswin, Bialas, Allison R., de Rivera, Heather, Davis, Avery, Hammond, Timothy R., Kamitaki, Nolan, Tooley, Katherine, Presumey, Jessy, Baum, Matthew, Van Doren, Vanessa, Genovese, Giulio, Rose, Samuel A., Handsaker, Robert E., Daly, Mark J., Carroll, Michael C., Stevens, Beth, McCarroll, Steven A.
Published 2016

Integrated Genomics of Crohn’s Disease Risk Variant Identifies a Role for CLEC12A in Antibacterial Autophagy

by Begun, Jakob, Lassen, Kara G., Jijon, Humberto B., Baxt, Leigh A., Goel, Gautam, Heath, Robert J., Ng, Aylwin, Tam, Jenny M., Kuo, Szu-Yu, Villablanca, Eduardo J., Fagbami, Lola, Oosting, Marije, Kumar, Vinod, Schenone, Monica, Carr, Steven A., Joosten, Leo A.B., Vyas, Jatin M., Daly, Mark J., Netea, Mihai G., Brown, Gordon D., Wijmenga, Cisca, Xavier, Ramnik J.
Published 2015