Search Results - "Almanza Fuerte, Edith P."

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement by LaFlamme, Christy W., Rastin, Cassandra, Sengupta, Soham, Pennington, Helen E., Russ-Hall, Sophie J., Schneider, Amy L., Bonkowski, Emily S., Almanza Fuerte, Edith P., Allan, Talia J., Zalusky, Miranda Perez-Galey, Goffena, Joy, Gibson, Sophia B., Nyaga, Denis M., Lieffering, Nico, Hebbar, Malavika, Walker, Emily V., Darnell, Daniel, Olsen, Scott R., Kolekar, Pandurang, Djekidel, Mohamed Nadhir, Rosikiewicz, Wojciech, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A., Relator, Raissa, Lev, Dorit, Lerman-Sagie, Tally, Park, Kristen L., Alders, Marielle, Cappuccio, Gerarda, Chatron, Nicolas, Demain, Leigh, Genevieve, David, Lesca, Gaetan, Roscioli, Tony, Sanlaville, Damien, Tedder, Matthew L., Gupta, Sachin, Jones, Elizabeth A., Weisz-Hubshman, Monika, Ketkar, Shamika, Dai, Hongzheng, Worley, Kim C., Rosenfeld, Jill A., Chao, Hsiao-Tuan, Neale, Geoffrey, Carvill, Gemma L., Wang, Zhaoming, Berkovic, Samuel F., Sadleir, Lynette G., Miller, Danny E., Scheffer, Ingrid E., Sadikovic, Bekim, Mefford, Heather C.

“…Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes…”
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns by Stamberger, Hannah, Hammer, Trine B., Gardella, Elena, Vlaskamp, Danique R. M., Bertelsen, Birgitte, Mandelstam, Simone, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid, Almanza Fuerte, Edith P., Andrade, Danielle M., Balcik, Yunus, Ben Zeev, Bruria, Bennett, Mark F., Berkovic, Samuel F., Isidor, Bertrand, Bouman, Arjan, Brilstra, Eva, Busk, Øyvind L., Cairns, Anita, Caumes, Roseline, Chatron, Nicolas, Dale, Russell C., de Geus, Christa, Edery, Patrick, Gill, Deepak, Granild-Jensen, Jacob Bie, Gunderson, Lauren, Gunning, Boudewijn, Heimer, Gali, Helle, Johan R., Hildebrand, Michael S., Hollingsworth, Georgie, Kharytonov, Volodymyr, Klee, Eric W., Koeleman, Bobby P. C., Koolen, David A., Korff, Christian, Küry, Sébastien, Lesca, Gaetan, Lev, Dorit, Leventer, Richard J., Mackay, Mark T., Macke, Erica L., McEntagart, Meriel, Mohammad, Shekeeb S., Monin, Pauline, Montomoli, Martino, Morava, Eva, Moutton, Sebastien, Muir, Alison M., Parrini, Elena, Procopis, Peter, Ranza, Emmanuelle, Reed, Laura, Reif, Philipp S., Rosenow, Felix, Rossi, Massimiliano, Sadleir, Lynette G., Sadoway, Tara, Schelhaas, Helenius J., Schneider, Amy L., Shah, Krati, Shalev, Ruth, Sisodiya, Sanjay M., Smol, Thomas, Stumpel, Connie T. R. M., Stuurman, Kyra, Symonds, Joseph D., Mau-Them, Frederic Tran, Verbeek, Nienke, Verhoeven, Judith S., Wallace, Geoffrey, Yosovich, Keren, Zarate, Yuri A., Zerem, Ayelet, Zuberi, Sameer M., Guerrini, Renzo, Mefford, Heather C., Patel, Chirag, Zhang, Yue-Hua, Møller, Rikke S., Scheffer, Ingrid E.

“…Purpose Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022 ) are associated with intellectual disability (ID), autism spectrum disorder, and…”
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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly by Tsai, Meng-Han, Muir, Alison M., Wang, Won-Jing, Kang, Yi-Ning, Yang, Kun-Chuan, Chao, Nian-Hsin, Wu, Mei-Feng, Chang, Ying-Chao, Porter, Brenda E., Jansen, Laura A., Sebire, Guillaume, Deconinck, Nicolas, Fan, Wen-Lang, Su, Shih-Chi, Chung, Wen-Hung, Almanza Fuerte, Edith P., Mehaffey, Michele G., Ng, Ching-Ching, Chan, Chung-Kin, Lim, Kheng-Seang, Leventer, Richard J., Lockhart, Paul J., Riney, Kate, Damiano, John A., Hildebrand, Michael S., Mirzaa, Ghayda M., Dobyns, William B., Berkovic, Samuel F., Scheffer, Ingrid E., Tsai, Jin-Wu, Mefford, Heather C.

“…Lissencephaly (LIS), denoting a “smooth brain,” is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness…”
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Targeted long-read sequencing identifies missing disease-causing variation by Miller, Danny E., Sulovari, Arvis, Wang, Tianyun, Loucks, Hailey, Hoekzema, Kendra, Munson, Katherine M., Lewis, Alexandra P., Fuerte, Edith P. Almanza, Paschal, Catherine R., Walsh, Tom, Thies, Jenny, Bennett, James T., Glass, Ian, Dipple, Katrina M., Patterson, Karynne, Bonkowski, Emily S., Nelson, Zoe, Squire, Audrey, Sikes, Megan, Beckman, Erika, Bennett, Robin L., Earl, Dawn, Lee, Winston, Allikmets, Rando, Perlman, Seth J., Chow, Penny, Hing, Anne V., Wenger, Tara L., Adam, Margaret P., Sun, Angela, Lam, Christina, Chang, Irene, Zou, Xue, Austin, Stephanie L., Huggins, Erin, Safi, Alexias, Iyengar, Apoorva K., Reddy, Timothy E., Majoros, William H., Allen, Andrew S., Crawford, Gregory E., Kishnani, Priya S., King, Mary-Claire, Cherry, Tim, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Eichler, Evan E.

“…Despite widespread clinical genetic testing, many individuals with suspected genetic conditions lack a precise diagnosis, limiting their opportunity to take…”
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The role of copy number variants in the genetic architecture of common familial epilepsies by Almanza Fuerte, Edith P., Nguyen, John, Mehaffey, Michelle, Sulovari, Arvis, Wang, Tianyun, Galey, Miranda, Miller, Danny E., Eichler, Evan E., Mefford, Heather C., Abou‐Khalil, Bassel, Afawi, Zaid Afawi, Allen, Andrew S., Amrom, Dina, Andermann, Eva, Bautista, Jocelyn F., Bellows, Susannah T., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alexis, Burgess, Rosemary, Cascino, Gregory D., Chung, Seo‐Kyung, Consalvo, Damian, Cossette, Patrick, Crompton, Douglas E., Crumrine, Patricia, Curtis, Sarah W., Delanty, Norman, Devinsky, Orrin, Dlugos, Dennis, Ellis, Colin A., Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., Freyer, Catharine, Friedman, Dan, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Harris, Rebekah V., Haut, Sheryl, Heinzen, Erin L., Helmers, Sandra, Henry, Olivia J., Joshi, Sucheta, Kirsch, Heidi E., Kivity, Sara, Knowlton, Robert C., Kossoff, Eric, Kuzniecky, Ruben, Loeb, Rebecca, Lowenstein, Daniel H., Marson, Anthony G., McCormack, Mark, McGuire, Shannon M., McKenna, Kevin, Motika, Paul V., Mullen, Saul A., Novotny, Edward J., O’Brien, Terence J., Oliver, Karen L., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack M., Park, Kristen L., Paterson, Sarah J., Petrovski, Slave, Pickrell, William O., Poduri, Annapurna, Rees, Mark I., Sadleir, Lynette G., Scheffer, Ingrid E., Shellhaas, Renee A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Singh, Rani K., Sirven, Joseph, Smith, Michael C., Smith, Philip E. M., Sperling, Michael R., Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith, Widdess‐Walsh, Peter, Winawer, Melodie R.

“…Objective Copy number variants (CNVs) contribute to genetic risk and genetic etiology of both rare and common epilepsies. Whereas many studies have explored…”
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