Poison exons in neurodevelopment and disease
Carvill, Gemma L, Mefford, Heather C
Published in Current opinion in genetics & development (01.12.2020)
Published in Current opinion in genetics & development (01.12.2020)
Get full text
Journal Article
Duplication hotspots, rare genomic disorders, and common disease
Mefford, Heather C, Eichler, Evan E
Published in Current opinion in genetics & development (01.06.2009)
Published in Current opinion in genetics & development (01.06.2009)
Get full text
Journal Article
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
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
Published in Science (American Association for the Advancement of Science) (21.12.2012)
Published in Science (American Association for the Advancement of Science) (21.12.2012)
Get full text
Journal Article
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
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
Published in Molecular autism (03.10.2013)
Published in Molecular autism (03.10.2013)
Get full text
Journal Article
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures
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.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
Get full text
Journal Article
Somatic mutation: The hidden genetics of brain malformations and focal epilepsies
Ye, Zimeng, McQuillan, Lara, Poduri, Annapurna, Green, Timothy E., Matsumoto, Naomichi, Mefford, Heather C., Scheffer, Ingrid E., Berkovic, Samuel F., Hildebrand, Michael S.
Published in Epilepsy research (01.09.2019)
Published in Epilepsy research (01.09.2019)
Get full text
Journal Article
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
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
Published in American journal of human genetics (03.01.2019)
Published in American journal of human genetics (03.01.2019)
Get full text
Journal Article
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
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
Published in PLoS genetics (20.05.2010)
Published in PLoS genetics (20.05.2010)
Get full text
Journal Article
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
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
Published in Genome Biology (14.12.2022)
Published in Genome Biology (14.12.2022)
Get full text
Journal Article
SCN8A encephalopathy: Research progress and prospects
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.
Published in Epilepsia (Copenhagen) (01.07.2016)
Published in Epilepsia (Copenhagen) (01.07.2016)
Get full text
Journal Article
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children
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.
Published in The Journal of pediatrics (01.11.2020)
Published in The Journal of pediatrics (01.11.2020)
Get full text
Journal Article
Rare copy number variants are an important cause of epileptic encephalopathies
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.
Published in Annals of neurology (01.12.2011)
Published in Annals of neurology (01.12.2011)
Get full text
Journal Article
Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy
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
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
Get full text
Journal Article
Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics
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.
Published in Epilepsia (Copenhagen) (01.06.2018)
Published in Epilepsia (Copenhagen) (01.06.2018)
Get full text
Journal Article
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
Earl, Rachel K, Turner, Tychele N, Mefford, Heather C, Hudac, Caitlin M, Gerdts, Jennifer, Eichler, Evan E, Bernier, Raphael A
Published in Molecular autism (05.10.2017)
Published in Molecular autism (05.10.2017)
Get full text
Journal Article
Prospective investigation of FOXP1 syndrome
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
Published in Molecular autism (24.10.2017)
Published in Molecular autism (24.10.2017)
Get full text
Journal Article
Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor
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.
Published in Scientific reports (30.03.2022)
Published in Scientific reports (30.03.2022)
Get full text
Journal Article
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase
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
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
Get full text
Journal Article