Discovery of rare variants for complex phenotypes

Yazar: Kosmicki, Jack A., Churchhouse, Claire L., Rivas, Manuel A., Neale, Benjamin M.
Yayımlandı Hum Genet (2016)

Applicability of the Mutation–Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans

Yazar: Weghorn, Donate, Balick, Daniel J, Cassa, Christopher, Kosmicki, Jack A, Daly, Mark J, Beier, David R, Sunyaev, Shamil R
Yayımlandı Mol Biol Evol (2019)

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences

Yazar: Robinson, Elise B., Samocha, Kaitlin E., Kosmicki, Jack A., McGrath, Lauren, Neale, Benjamin M., Perlis, Roy H., Daly, Mark J.
Baskı/Yayın Bilgisi 2014

Predicting the clinical impact of human mutation with deep neural networks

Yazar: Sundaram, Laksshman, Gao, Hong, Padigepati, Samskruthi Reddy, McRae, Jeremy F., Li, Yanjun, Kosmicki, Jack A., Fritzilas, Nondas, Hakenberg, Jörg, Dutta, Anindita, Shon, John, Xu, Jinbo, Batzoglou, Serafim, Li, Xiaolin, Farh, Kyle Kai-How
Yayımlandı Nat Genet (2018)

Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities

Yazar: Nichols, Caitlin A., Gibson, William J., Brown, Meredith S., Kosmicki, Jack A., Busanovich, John P., Wei, Hope, Urbanski, Laura M., Curimjee, Naomi, Berger, Ashton C., Gao, Galen F., Cherniack, Andrew D., Dhe-Paganon, Sirano, Paolella, Brenton R., Beroukhim, Rameen
Yayımlandı Nat Commun (2020)

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

Yazar: Kosmicki, Jack A., Samocha, Kaitlin E., Howrigan, Daniel P., Sanders, Stephan J., Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J., Cutler, David J., Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D., Neale, Benjamin M., MacArthur, Daniel G., Wall, Dennis P., Robinson, Elise B., Daly, Mark J.
Yayımlandı Nat Genet (2017)

Transcript expression-aware annotation improves rare variant interpretation

Yazar: Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Daly, Mark J., MacArthur, Daniel G.
Yayımlandı Nature (2020)

Author Correction: Transcript expression-aware annotation improves rare variant interpretation

Yazar: Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Daly, Mark J., MacArthur, Daniel G.
Yayımlandı Nature (2021)

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Yazar: Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C., Harewood, Louise, Kosmicki, Jack A., Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M., Alfaiz, Ali Abdullah, van Haelst, Mieke M., Andrieux, Joris, Gusella, James F., Daly, Mark J., Beckmann, Jacques S., Jacquemont, Sébastien, Talkowski, Michael E., Katsanis, Nicholas, Reymond, Alexandre
Yayımlandı Am J Hum Genet (2015)

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

Yazar: 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.
Yayımlandı Nat Genet (2016)

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Yazar: Weiner, Daniel J., Wigdor, Emilie M., Ripke, Stephan, Walters, Raymond K., Kosmicki, Jack A., Grove, Jakob, Samocha, Kaitlin E., Goldstein, Jacqueline, Okbay, Aysu, Bybjerg-Grauholm, Jonas, Werge, Thomas, Hougaard, David M., Taylor, Jacob, Skuse, David, Devlin, Bernie, Anney, Richard, Sanders, Stephan J., Bishop, Somer, Mortensen, Preben Bo, Børglum, Anders D., Smith, George Davey, Daly, Mark J., Robinson, Elise B.
Yayımlandı Nat Genet (2017)

Paternal-age-related de novo mutations and risk for five disorders

Yazar: Taylor, Jacob L., Debost, Jean-Christophe P. G., Morton, Sarah U., Wigdor, Emilie M., Heyne, Henrike O., Lal, Dennis, Howrigan, Daniel P., Bloemendal, Alex, Larsen, Janne T., Kosmicki, Jack A., Weiner, Daniel J., Homsy, Jason, Seidman, Jonathan G., Seidman, Christine E., Agerbo, Esben, McGrath, John J., Mortensen, Preben Bo, Petersen, Liselotte, Daly, Mark J., Robinson, Elise B.
Yayımlandı Nat Commun (2019)

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants

Yazar: Satterstrom, F. Kyle, Walters, Raymond K., Singh, Tarjinder, Wigdor, Emilie M., Lescai, Francesco, Demontis, Ditte, Kosmicki, Jack A., Grove, Jakob, Stevens, Christine, Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Marie, Palmer, Duncan S., Maller, Julian B., Nordentoft, Merete, Mors, Ole, Robinson, Elise B., Hougaard, David M., Werge, Thomas M., Mortensen, Preben Bo, Neale, Benjamin M., Børglum, Anders D., Daly, Mark J.
Yayımlandı Nat Neurosci (2019)

Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations

Yazar: Howrigan, Daniel P., Rose, Samuel A., Samocha, Kaitlin E., Fromer, Menachem, Cerrato, Felecia, Chen, Wei J., Churchhouse, Claire, Chambert, Kimberly, Chandler, Sharon D., Daly, Mark J., Dumont, Ashley, Genovese, Giulio, Hwu, Hai-Gwo, Laird, Nan, Kosmicki, Jack A., Moran, Jennifer L., Roe, Cheryl, Singh, Tarjinder, Wang, Shi-Heng, Faraone, Stephen V., Glatt, Stephen J., McCarroll, Steven A., Tsuang, Ming, Neale, Benjamin M.
Yayımlandı Nat Neurosci (2020)

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Yazar: Surakka, Ida, Fritsche, Lars G., Zhou, Wei, Backman, Joshua, Kosmicki, Jack A., Lu, Haocheng, Brumpton, Ben, Nielsen, Jonas B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Wolford, Brooke, Graham, Sarah E., Chen, Y. Eugene, Lee, Seunggeun, Kang, Hyun Min, Langhammer, Arnulf, Forsmo, Siri, Åsvold, Bjørn O., Styrkarsdottir, Unnur, Holm, Hilma, Gudbjartsson, Daniel, Stefansson, Kari, Baras, Aris, Abecasis, Goncalo R., Hveem, Kristian, Willer, Cristen J.
Yayımlandı Nat Commun (2020)

A framework for the interpretation of de novo mutation in human disease

Yazar: Samocha, Kaitlin E., Robinson, Elise B., Sanders, Stephan J., Stevens, Christine, Sabo, Aniko, McGrath, Lauren M., Kosmicki, Jack A., Rehnström, Karola, Mallick, Swapan, Kirby, Andrew, Wall, Dennis P., MacArthur, Daniel G., Gabriel, Stacey B., dePristo, Mark, Purcell, Shaun M., Palotie, Aarno, Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Gibbs, Richard A., Schellenberg, Gerard D., Sutcliffe, James S., Devlin, Bernie, Roeder, Kathryn, Neale, Benjamin M., Daly, Mark J.
Yayımlandı Nat Genet (2014)

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Yazar: Lal, Dennis, May, Patrick, Perez-Palma, Eduardo, Samocha, Kaitlin E., Kosmicki, Jack A., Robinson, Elise B., Møller, Rikke S., Krause, Roland, Nürnberg, Peter, Weckhuysen, Sarah, De Jonghe, Peter, Guerrini, Renzo, Niestroj, Lisa M., Du, Juliana, Marini, Carla, Ware, James S., Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A., Koeleman, Bobby P. C., Helbig, Katherine L., Weber, Yvonne G., Helbig, Ingo, Majithia, Amit R., Palotie, Aarno, Daly, Mark J.
Yayımlandı Genome Med (2020)

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Yazar: Satterstrom, F. Kyle, Kosmicki, Jack A., Wang, Jiebiao, Breen, Michael S., De Rubeis, Silvia, An, Joon-Yong, Peng, Minshi, Collins, Ryan, Grove, Jakob, Klei, Lambertus, Stevens, Christine, Reichert, Jennifer, Mulhern, Maureen S., Artomov, Mykyta, Gerges, Sherif, Sheppard, Brooke, Xu, Xinyi, Bhaduri, Aparna, Norman, Utku, Brand, Harrison, Schwartz, Grace, Nguyen, Rachel, Guerrero, Elizabeth E., Dias, Caroline, Betancur, Catalina, Cook, Edwin H., Gallagher, Louise, Gill, Michael, Sutcliffe, James S., Thurm, Audrey, Zwick, Michael E., Børglum, Anders D., State, Matthew W., Cicek, A. Ercument, Talkowski, Michael E., Cutler, David J., Devlin, Bernie, Sanders, Stephan J., Roeder, Kathryn, Daly, Mark J., Buxbaum, Joseph D.
Yayımlandı Cell (2020)

The mutational constraint spectrum quantified from variation in 141,456 humans

Yazar: Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.
Yayımlandı Nature (2020)

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

Yazar: Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.
Yayımlandı Nature (2021)