Genetics and genomic medicine in Ecuador

por Paz‐y‐Miño, César, Guillen Sacoto, María J., Leone, Paola E.
Publicado 2015

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

por Guillen Sacoto, Maria J., Chapman, Kimberly A., Heath, Deneen, Seprish, Mary Beth, Zand, Dina J.
Publicado 2015

Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy

por Efthymiou, Stephanie, Dutra‐Clarke, Marina, Maroofian, Reza, Kaiyrzhanov, Rauan, Scala, Marcello, Reza Alvi, Javeria, Sultan, Tipu, Christoforou, Marilena, Tuyet Mai Nguyen, Thi, Mankad, Kshitij, Vona, Barbara, Rad, Aboulfazl, Striano, Pasquale, Salpietro, Vincenzo, Guillen Sacoto, Maria J., Zaki, Maha S., Gleeson, Joseph G., Campeau, Philippe M., Russell, Bianca E., Houlden, Henry
Publicado 2021

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

por Weiss, Karin, Kruszka, Paul, Guillen Sacoto, Maria J, Addissie, Yonit A, Hadley, Donald W, Hadsall, Casey K, Stokes, Bethany, Hu, Ping, Roessler, Erich, Solomon, Beth, Wiggs, Edythe, Thurm, Audrey, Hufnagel, Robert B, Zein, Wadih M, Hahn, Jin S, Stashinko, Elaine, Levey, Eric, Baldwin, Debbie, Clegg, Nancy J, Delgado, Mauricio R, Muenke, Maximilian
Publicado 2018

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

por McMillan, Hugh J., Telegrafi, Aida, Singleton, Amanda, Cho, Megan T., Lelli, Daniel, Lynn, Francis C., Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E., Koolen, David A., Haaxma, Charlotte A., Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J., Henderson, Lindsay B., McLaughlin, Heather, Molday, Laurie L., Molday, Robert S., Yoon, Grace
Publicado 2018

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

por Li, Dong, Wang, Qin, Gong, Naihua N., Kurolap, Alina, Feldman, Hagit Baris, Boy, Nikolas, Brugger, Melanie, Grand, Katheryn, McWalter, Kirsty, Guillen Sacoto, Maria J., Wakeling, Emma, Hurst, Jane, March, Michael E., Bhoj, Elizabeth J., Nowaczyk, Małgorzata J. M., Gonzaga-Jauregui, Claudia, Mathew, Mariam, Dava-Wala, Ashita, Siemon, Amy, Bartholomew, Dennis, Huang, Yue, Lee, Hane, Martinez-Agosto, Julian A., Schwaibold, Eva M. C., Brunet, Theresa, Choukair, Daniela, Pais, Lynn S., White, Susan M., Christodoulou, John, Brown, Dana, Lindstrom, Kristin, Grebe, Theresa, Tiosano, Dov, Kayser, Matthew S., Tan, Tiong Yang, Deardorff, Matthew A., Song, Yuanquan, Hakonarson, Hakon
Publicado 2021

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

por Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P. N., van Lint, Alida E. M., Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L., Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V., Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A., Macnamara, Ellen F., Wolfe, Lynne, Waisfisz, Quinten, Zwijnenburg, Petra J. G., Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C., van Kampen, Antoine H. C., Wanders, Ronald J. A., Waterham, Hans R., Cassiman, David, Vaz, Frédéric M.
Publicado 2020

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

por van Woerden, Geeske M., Bos, Melanie, de Konink, Charlotte, Distel, Ben, Avagliano Trezza, Rossella, Shur, Natasha E., Barañano, Kristin, Mahida, Sonal, Chassevent, Anna, Schreiber, Allison, Erwin, Angelika L., Gripp, Karen W., Rehman, Fatima, Brulleman, Saskia, McCormack, Róisín, de Geus, Gwynna, Kalsner, Louisa, Sorlin, Arthur, Bruel, Ange‐Line, Koolen, David A., Gabriel, Melissa K., Rossi, Mari, Fitzpatrick, David R., Wilkie, Andrew O.M., Calpena, Eduardo, Johnson, David, Brooks, Alice, van Slegtenhorst, Marjon, Fleischer, Julie, Groepper, Daniel, Lindstrom, Kristin, Innes, A. Micheil, Goodwin, Allison, Humberson, Jennifer, Noyes, Amanda, Langley, Katherine G., Telegrafi, Aida, Blevins, Amy, Hoffman, Jessica, Guillen Sacoto, Maria J., Juusola, Jane, Monaghan, Kristin G., Punj, Sumit, Simon, Marleen, Pfundt, Rolph, Elgersma, Ype, Kleefstra, Tjitske
Publicado 2021

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

por Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P. N., van Lint, Alida E. M., Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L., Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V., Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A., Macnamara, Ellen F., Wolfe, Lynne, Waisfisz, Quinten, Zwijnenburg, Petra J. G., Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C., van Kampen, Antoine H. C., Wanders, Ronald J. A., Waterham, Hans R., Cassiman, David, Vaz, Frédéric M.
Publicado 2021

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

por Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.
Publicado 2022