A method to delineate de novo missense variants across pathways prioritizes genes linked to autism.

Niklas Krumm, Tychele N Turner, Carl Baker, Laura Vives, Kiana Mohajeri, Kali Witherspoon, Archana Raja, Bradley P Coe, Holly A Stessman, Zong-Xiao He, Suzanne M Leal, Raphael Bernier, Evan E Eichler, Excess of rare, inherited truncating mutations in autism. Nature Genetics. ,vol. 47, pp. 582- 588 ,(2015) , 10.1038/NG.3303

Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amron, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Samuel F. Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E. Eichler, Michael P. Epstein, Tracy Glauser, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Ruben Kuzniecky, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Ruth Ottman, Stephen Petrou, Slavé Petrovski, Annapurna Poduri, Elizabeth K. Ruzzo, Ingrid E. Scheffer, Elliott Sherr, De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies American Journal of Human Genetics. ,vol. 95, pp. 360- 370 ,(2014) , 10.1016/J.AJHG.2014.08.013

Panagiotis Katsonis, Amanda Koire, Stephen Joseph Wilson, Teng-Kuei Hsu, Rhonald C. Lua, Angela Dawn Wilkins, Olivier Lichtarge, Single nucleotide variations: Biological impact and theoretical interpretation Protein Science. ,vol. 23, pp. 1650- 1666 ,(2014) , 10.1002/PRO.2552

Lisa A. Miosge, Matthew A. Field, Yovina Sontani, Vicky Cho, Simon Johnson, Anna Palkova, Bhavani Balakishnan, Rong Liang, Yafei Zhang, Stephen Lyon, Bruce Beutler, Belinda Whittle, Edward M. Bertram, Anselm Enders, Christopher C. Goodnow, T. Daniel Andrews, Comparison of predicted and actual consequences of missense mutations Proceedings of the National Academy of Sciences of the United States of America. ,vol. 112, ,(2015) , 10.1073/PNAS.1511585112

Laurent C Francioli, Paz P Polak, Amnon Koren, Androniki Menelaou, Sung Chun, Ivo Renkens, Genome of the Netherlands Consortium, Cornelia M van Duijn, Morris Swertz, Cisca Wijmenga, Gertjan van Ommen, P Eline Slagboom, Dorret I Boomsma, Kai Ye, Victor Guryev, Peter F Arndt, Wigard P Kloosterman, Paul IW de Bakker, Shamil R Sunyaev, None, Genome-wide patterns and properties of de novo mutations in humans Nature Genetics. ,vol. 47, pp. 822- 826 ,(2015) , 10.1038/NG.3292

Slavé Petrovski, Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein, Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes PLoS Genetics. ,vol. 9, pp. e1003709- ,(2013) , 10.1371/JOURNAL.PGEN.1003709

Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler, Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Nature. ,vol. 485, pp. 246- 250 ,(2012) , 10.1038/NATURE10989

Catalina Betancur, Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting Brain Research. ,vol. 1380, pp. 42- 77 ,(2011) , 10.1016/J.BRAINRES.2010.11.078

David M. Neskey, Abdullah A. Osman, Thomas J. Ow, Panagiotis Katsonis, Thomas McDonald, Stephanie C. Hicks, Teng-Kuei Hsu, Curtis R. Pickering, Alexandra Ward, Ameeta Patel, John S. Yordy, Heath D. Skinner, Uma Giri, Daisuke Sano, Michael D. Story, Beth M. Beadle, Adel K. El-Naggar, Merrill S. Kies, William N. William, Carlos Caulin, Mitchell Frederick, Marek Kimmel, Jeffrey N. Myers, Olivier Lichtarge, Evolutionary Action Score of TP53 Identifies High-Risk Mutations Associated with Decreased Survival and Increased Distant Metastases in Head and Neck Cancer Cancer Research. ,vol. 75, pp. 1527- 1536 ,(2015) , 10.1158/0008-5472.CAN-14-2735

Elise B. Robinson, Kaitlin E. Samocha, Jack A. Kosmicki, Lauren McGrath, Benjamin M. Neale, Roy H. Perlis, Mark J. Daly, Autism spectrum disorder severity reflects the average contribution of de novo and familial influences Proceedings of the National Academy of Sciences of the United States of America. ,vol. 111, pp. 15161- 15165 ,(2014) , 10.1073/PNAS.1409204111