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	1.	Discovery of rare variants for complex phenotypes. [electronic resource] by Kosmicki, Jack A Churchhouse, Claire L Rivas, Manuel A Neale, Benjamin M Producer: 20170621 In: Human genetics vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans. [electronic resource] by Weghorn, Donate Balick, Daniel J Cassa, Christopher Kosmicki, Jack A Daly, Mark J Beier, David R Sunyaev, Shamil R Producer: 20200203 In: Molecular biology and evolution vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. [electronic resource] by Robinson, Elise B Samocha, Kaitlin E Kosmicki, Jack A McGrath, Lauren Neale, Benjamin M Perlis, Roy H Daly, Mark J Producer: 20150424 In: Proceedings of the National Academy of Sciences of the United States of America vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Author Correction: Predicting the clinical impact of human mutation with deep neural networks. [electronic resource] by 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 Publication details: Nature genetics 02 2019 In: Nature genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Predicting the clinical impact of human mutation with deep neural networks. [electronic resource] by 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 Producer: 20190424 In: Nature genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. [electronic resource] by 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 Producer: 20170905 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Predicting Splicing from Primary Sequence with Deep Learning. [electronic resource] by Jaganathan, Kishore Kyriazopoulou Panagiotopoulou, Sofia McRae, Jeremy F Darbandi, Siavash Fazel Knowles, David Li, Yang I Kosmicki, Jack A Arbelaez, Juan Cui, Wenwu Schwartz, Grace B Chow, Eric D Kanterakis, Efstathios Gao, Hong Kia, Amirali Batzoglou, Serafim Sanders, Stephan J Farh, Kyle Kai-How Producer: 20191126 In: Cell vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. [electronic resource] by 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 Producer: 20150729 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. [electronic resource] 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 Producer: 20170530 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. [electronic resource] by 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 Bo Mortensen, Preben Neale, Benjamin M Børglum, Anders D Daly, Mark J Producer: 20200131 In: Nature neuroscience vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Paternal-age-related de novo mutations and risk for five disorders. [electronic resource] by 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 Producer: 20191021 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. [electronic resource] by Weiner, Daniel J Wigdor, Emilie M Ripke, Stephan Walters, Raymond K Kosmicki, Jack A Grove, Jakob Samocha, Kaitlin E Goldstein, Jacqueline I 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 Producer: 20171004 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations. [electronic resource] by 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 Producer: 20200413 In: Nature neuroscience vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A framework for the interpretation of de novo mutation in human disease. [electronic resource] by 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 Producer: 20150115 In: Nature genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	De novo variants in neurodevelopmental disorders with epilepsy. [electronic resource] by Heyne, Henrike O Singh, Tarjinder Stamberger, Hannah Abou Jamra, Rami Caglayan, Hande Craiu, Dana De Jonghe, Peter Guerrini, Renzo Helbig, Katherine L Koeleman, Bobby P C Kosmicki, Jack A Linnankivi, Tarja May, Patrick Muhle, Hiltrud Møller, Rikke S Neubauer, Bernd A Palotie, Aarno Pendziwiat, Manuela Striano, Pasquale Tang, Sha Wu, Sitao Poduri, Annapurna Weber, Yvonne G Weckhuysen, Sarah Sisodiya, Sanjay M Daly, Mark J Helbig, Ingo Lal, Dennis Lemke, Johannes R Producer: 20190424 In: Nature genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. [electronic resource] by 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 Producer: 20210104 In: Genome medicine vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. [electronic resource] by 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 Producer: 20200821 In: Cell vol. 180 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Analysis of protein-coding genetic variation in 60,706 humans. [electronic resource] by Lek, Monkol Karczewski, Konrad J Minikel, Eric V Samocha, Kaitlin E Banks, Eric Fennell, Timothy O'Donnell-Luria, Anne H Ware, James S Hill, Andrew J Cummings, Beryl B Tukiainen, Taru Birnbaum, Daniel P Kosmicki, Jack A Duncan, Laramie E Estrada, Karol Zhao, Fengmei Zou, James Pierce-Hoffman, Emma Berghout, Joanne Cooper, David N Deflaux, Nicole DePristo, Mark Do, Ron Flannick, Jason Fromer, Menachem Gauthier, Laura Goldstein, Jackie Gupta, Namrata Howrigan, Daniel Kiezun, Adam Kurki, Mitja I Moonshine, Ami Levy Natarajan, Pradeep Orozco, Lorena Peloso, Gina M Poplin, Ryan Rivas, Manuel A Ruano-Rubio, Valentin Rose, Samuel A Ruderfer, Douglas M Shakir, Khalid Stenson, Peter D Stevens, Christine Thomas, Brett P Tiao, Grace Tusie-Luna, Maria T Weisburd, Ben Won, Hong-Hee Yu, Dongmei Altshuler, David M Ardissino, Diego Boehnke, Michael Danesh, John Donnelly, Stacey Elosua, Roberto Florez, Jose C Gabriel, Stacey B Getz, Gad Glatt, Stephen J Hultman, Christina M Kathiresan, Sekar Laakso, Markku McCarroll, Steven McCarthy, Mark I McGovern, Dermot McPherson, Ruth Neale, Benjamin M Palotie, Aarno Purcell, Shaun M Saleheen, Danish Scharf, Jeremiah M Sklar, Pamela Sullivan, Patrick F Tuomilehto, Jaakko Tsuang, Ming T Watkins, Hugh C Wilson, James G Daly, Mark J MacArthur, Daniel G Producer: 20160913 In: Nature vol. 536 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)