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

por Choi, Jinmyung, Shooshtari, Parisa, Samocha, Kaitlin E., Daly, Mark J., Cotsapas, Chris
Publicado 2016

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

por Zhang, Sidi, Samocha, Kaitlin E., Rivas, Manuel A., Karczewski, Konrad J., Daly, Emma, Schmandt, Ben, Neale, Benjamin M., MacArthur, Daniel G., Daly, Mark J.
Publicado 2018

Genetic risk factors have a substantial impact on healthy life years

por Jukarainen, Sakari, Kiiskinen, Tuomo, Kuitunen, Sara, Havulinna, Aki S., Karjalainen, Juha, Cordioli, Mattia, Rämö, Joel T., Mars, Nina, Samocha, Kaitlin E., Ollila, Hanna M., Pirinen, Matti, Ganna, Andrea
Publicado 2022

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

por 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.
Publicado 2016

The ExAC browser: displaying reference data information from over 60 000 exomes

por Karczewski, Konrad J., Weisburd, Ben, Thomas, Brett, Solomonson, Matthew, Ruderfer, Douglas M., Kavanagh, David, Hamamsy, Tymor, Lek, Monkol, Samocha, Kaitlin E., Cummings, Beryl B., Birnbaum, Daniel, Daly, Mark J., MacArthur, Daniel G.
Publicado 2017

A framework for the detection of de novo mutations in family-based sequencing data

por Francioli, Laurent C, Cretu-Stancu, Mircea, Garimella, Kiran V, Fromer, Menachem, Kloosterman, Wigard P, Samocha, Kaitlin E, Neale, Benjamin M, Daly, Mark J, Banks, Eric, DePristo, Mark A, de Bakker, Paul IW
Publicado 2017

Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data

por Cassa, Christopher A., Weghorn, Donate, Balick, Daniel J., Jordan, Daniel M., Nusinow, David, Samocha, Kaitlin E., O’Donnell-Luria, Anne, MacArthur, Daniel G., Daly, Mark J., Beier, David R., Sunyaev, Shamil R.
Publicado 2017

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

por 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.
Publicado 2015

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

por 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.
Publicado 2017

Contribution of retrotransposition to developmental disorders

por Gardner, Eugene J., Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E., Handsaker, Juliet, Gerety, Sebastian S., Ironfield, Holly, Short, Patrick J., Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E., Clement, Emma, Lachlan, Katherine L., Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Publicado 2019

The contribution of X-linked coding variation to severe developmental disorders

por Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Publicado 2021

Inferring compound heterozygosity from large-scale exome sequencing data

por Guo, Michael H., Francioli, Laurent C., Stenton, Sarah L., Goodrich, Julia K., Watts, Nicholas A., Singer-Berk, Moriel, Groopman, Emily, Darnowsky, Philip W., Solomonson, Matthew, Baxter, Samantha, Tiao, Grace, Neale, Benjamin M., Hirschhorn, Joel N., Rehm, Heidi L., Daly, Mark J., O’Donnell-Luria, Anne, Karczewski, Konrad J., MacArthur, Daniel G., Samocha, Kaitlin E.
Publicado 2023

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

por 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.
Publicado 2016

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

por 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.
Publicado 2017

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

por 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.
Publicado 2020

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

por 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.
Publicado 2014

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

por 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.
Publicado 2020

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

por Liu, Li, Sabo, Aniko, Neale, Benjamin M., Nagaswamy, Uma, Stevens, Christine, Lim, Elaine, Bodea, Corneliu A., Muzny, Donna, Reid, Jeffrey G., Banks, Eric, Coon, Hillary, DePristo, Mark, Dinh, Huyen, Fennel, Tim, Flannick, Jason, Gabriel, Stacey, Garimella, Kiran, Gross, Shannon, Hawes, Alicia, Lewis, Lora, Makarov, Vladimir, Maguire, Jared, Newsham, Irene, Poplin, Ryan, Ripke, Stephan, Shakir, Khalid, Samocha, Kaitlin E., Wu, Yuanqing, Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Devlin, Bernie, Schellenberg, Gerard D., Sutcliffe, James S., Daly, Mark J., Gibbs, Richard A., Roeder, Kathryn
Publicado 2013

Evidence for 28 genetic disorders discovered by combining healthcare and research data

por Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle
Publicado 2020

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

por Saleheen, Danish, Natarajan, Pradeep, Armean, Irina M., Zhao, Wei, Rasheed, Asif, Khetarpal, Sumeet, Won, Hong-Hee, Karczewski, Konrad J., O’Donnell-Luria, Anne H., Samocha, Kaitlin E., Weisburd, Benjamin, Gupta, Namrata, Zaidi, Mozzam, Samuel, Maria, Imran, Atif, Abbas, Shahid, Majeed, Faisal, Ishaq, Madiha, Akhtar, Saba, Trindade, Kevin, Mucksavage, Megan, Qamar, Nadeem, Zaman, Khan Shah, Yaqoob, Zia, Saghir, Tahir, Rizvi, Syed Nadeem Hasan, Memon, Anis, Mallick, Nadeem Hayyat, Ishaq, Mohammad, Rasheed, Syed Zahed, Memon, Fazal-ur-Rehman, Mahmood, Khalid, Ahmed, Naveeduddin, Do, Ron, Krauss, Ronald M., MacArthur, Daniel G., Gabriel, Stacey, Lander, Eric S., Daly, Mark J., Frossard, Philippe, Danesh, John, Rader, Daniel J., Kathiresan, Sekar
Publicado 2017