Poison exons in neurodevelopment and disease von Carvill, Gemma L, Mefford, Heather C

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Recent advances in epilepsy genomics and genetic testing [version 1; peer review: 2 approved] von Hebbar, Malavika, Mefford, Heather C

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Duplication hotspots, rare genomic disorders, and common disease von Mefford, Heather C, Eichler, Evan E

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The Genetics of Microdeletion and Microduplication Syndromes: An Update von Watson, Corey T, Tomas, Marques-Bonet, Sharp, Andrew J, Mefford, Heather C

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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders von O'Roak, Brian J., Vives, Laura, Fu, Wenqing, Egertson, Jarrett D., Stanaway, Ian B., Phelps, Ian G., Carvill, Gemma, Kumar, Akash, Lee, Choli, Ankenman, Katy, Munson, Jeff, Hiatt, Joseph B., Turner, Emily H., Levy, Roie, O'Day, Diana R., Krumm, Niklas, Coe, Bradley P., Martin, Beth K., Borenstein, Elhanan, Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Akey, Joshua M., Bernier, Raphael, Eichler, Evan E., Shendure, Jay

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SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) von Abrahams, Brett S, Arking, Dan E, Campbell, Daniel B, Mefford, Heather C, Morrow, Eric M, Weiss, Lauren A, Menashe, Idan, Wadkins, Tim, Banerjee-Basu, Sharmila, Packer, Alan

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Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures von Carvill, Gemma L., McMahon, Jacinta M., Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Federico, Specchio, Nicola, Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Weckhuysen, Sarah, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome von LaCroix, Amy J., Stabley, Deborah, Sahraoui, Rebecca, Adam, Margaret P., Mehaffey, Michele, Kernan, Kelly, Myers, Candace T., Fagerstrom, Carrie, Anadiotis, George, Akkari, Yassmine M., Robbins, Katherine M., Gripp, Karen W., Baratela, Wagner A.R., Bober, Michael B., Duker, Angela L., Doherty, Dan, Dempsey, Jennifer C., Miller, Daniel G., Kircher, Martin, Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Sol-Church, Katia

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STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci von Dashnow, Harriet, Pedersen, Brent S, Hiatt, Laurel, Brown, Joe, Beecroft, Sarah J, Ravenscroft, Gianina, LaCroix, Amy J, Lamont, Phillipa, Roxburgh, Richard H, Rodrigues, Miriam J, Davis, Mark, Mefford, Heather C, Laing, Nigel G, Quinlan, Aaron R

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Somatic mutation: The hidden genetics of brain malformations and focal epilepsies von Ye, Zimeng, McQuillan, Lara, Poduri, Annapurna, Green, Timothy E., Matsumoto, Naomichi, Mefford, Heather C., Scheffer, Ingrid E., Berkovic, Samuel F., Hildebrand, Michael S.

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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies von Mefford, Heather C, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Buysse, Karen, Baker, Carl, Franke, Andre, Malafosse, Alain, Genton, Pierre, Thomas, Pierre, Gurnett, Christina A, Schreiber, Stefan, Bassuk, Alexander G, Guipponi, Michel, Stephani, Ulrich, Helbig, Ingo, Eichler, Evan E

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The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children von Freed, Amanda S., Clowes Candadai, Sarah V., Sikes, Megan C., Thies, Jenny, Byers, Heather M., Dines, Jennifer N., Ndugga-Kabuye, Mesaki Kenneth, Smith, Mallory B., Fogus, Katie, Mefford, Heather C., Lam, Christina, Adam, Margaret P., Sun, Angela, McGuire, John K., DiGeronimo, Robert, Dipple, Katrina M., Deutsch, Gail H., Billimoria, Zeenia C., Bennett, James T.

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SCN8A encephalopathy: Research progress and prospects von Meisler, Miriam H., Helman, Guy, Hammer, Michael F., Fureman, Brandy E., Gaillard, William D., Goldin, Alan L., Hirose, Shinichi, Ishii, Atsushi, Kroner, Barbara L., Lossin, Christoph, Mefford, Heather C., Parent, Jack M., Patel, Manoj, Schreiber, John, Stewart, Randall, Whittemore, Vicky, Wilcox, Karen, Wagnon, Jacy L, Pearl, Phillip L., Vanderver, Adeline, Scheffer, Ingrid E.

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Rare copy number variants are an important cause of epileptic encephalopathies von Mefford, Heather C., Yendle, Simone C., Hsu, Cynthia, Cook, Joseph, Geraghty, Eileen, McMahon, Jacinta M., Eeg-Olofsson, Orvar, Sadleir, Lynette G., Gill, Deepak, Ben-Zeev, Bruria, Lerman-Sagie, Tally, Mackay, Mark, Freeman, Jeremy L., Andermann, Eva, Pelakanos, James T., Andrews, Ian, Wallace, Geoffrey, Eichler, Evan E., Berkovic, Samuel F., Scheffer, Ingrid E.

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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy von Mefford, Heather C., Clauin, Séverine, Sharp, Andrew J., Moller, Rikke S., Ullmann, Reinhard, Kapur, Raj, Pinkel, Dan, Cooper, Gregory M., Ventura, Mario, Ropers, H. Hilger, Tommerup, Niels, Eichler, Evan E., Bellanne-Chantelot, Christine

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Clinical phenotype of ASD-associated DYRK1A haploinsufficiency von Earl, Rachel K, Turner, Tychele N, Mefford, Heather C, Hudac, Caitlin M, Gerdts, Jennifer, Eichler, Evan E, Bernier, Raphael A

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Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics von Helbig, Ingo, Heinzen, Erin L., Mefford, Heather C., Berkovic, Samuel F., Lowenstein, Daniel H., Kato, Mitsuhiro, Cross, J. Helen, Satishchandra, P., De Jonghe, Peter, Jiang, Yuwu, Goldman, Alicia, Petrou, Steve, Tan, Nigel C. K.

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Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor von Jiang, Bingcheng, Murray, Cameron, Cole, Bonnie L., Glover, J. N. Mark, Chan, Gordon K., Deschenes, Jean, Mani, Rajam S., Subedi, Sudip, Nerva, John D., Wang, Anthony C., Lockwood, Christina M., Mefford, Heather C., Leary, Sarah E. S., Ojemann, Jeffery G., Weinfeld, Michael, Ene, Chibawanye I.

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Prospective investigation of FOXP1 syndrome von Siper, Paige M, De Rubeis, Silvia, Trelles, Maria Del Pilar, Durkin, Allison, Di Marino, Daniele, Muratet, François, Frank, Yitzchak, Lozano, Reymundo, Eichler, Evan E, Kelly, Morgan, Beighley, Jennifer, Gerdts, Jennifer, Wallace, Arianne S, Mefford, Heather C, Bernier, Raphael A, Kolevzon, Alexander, Buxbaum, Joseph D

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Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase von Paemka, Lily, Mahajan, Vinit B, Ehaideb, Salleh N, Skeie, Jessica M, Tan, Men Chee, Wu, Shu, Cox, Allison J, Sowers, Levi P, Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J, Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather C, El-Shanti, Hatem, Wood, Stephen A, Manak, J Robert, Bassuk, Alexander G

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