Reassessing carrier status for dystrophinopathies

by Newcomb, Tara M., Flanigan, Kevin M.
Published 2016

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

by Bend, Eric G., Si, Yue, Stevenson, David A., Bayrak-Toydemir, Pinar, Newcomb, Tara M., Jorgensen, Erik M., Swoboda, Kathryn J.
Published 2016

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

by Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J., Newcomb, Tara M., Reyna, Sandra P., Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L., Brown, Candida, Brunkow, Mary E., Chugani, Harry T., Cheyette, Sarah R., Collins, Abigail, DeBrosse, Suzanne D., Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B., King, Mary D., LaSalle, Bernie, Leventer, Richard J., Lewelt, Aga J., Massart, Mylynda B., Mérida, Mario R., Ptáček, Louis J., Roach, Jared C., Rust, Robert S., Renault, Francis, Sanger, Terry D., Sotero de Menezes, Marcio A., Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J.
Published 2015

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

by Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J., Newcomb, Tara M., Reyna, Sandra P., Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L., Brown, Candida, Brunkow, Mary E., Chugani, Harry T., Cheyette, Sarah R., Collins, Abigail, DeBrosse, Suzanne D., Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B., King, Mary D., LaSalle, Bernie, Leventer, Richard J., Lewelt, Aga J., Massart, Mylynda B., Mérida, Mario R., Ptáček, Louis J., Roach, Jared C., Rust, Robert S., Renault, Francis, Sanger, Terry D., Sotero de Menezes, Marcio A., Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J.
Published 2015

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

by Heinzen, Erin L., Swoboda, Kathryn J., Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F. Danilo, Fontaine, Bertrand, Walley, Nicole M., Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T., Newcomb, Tara M., Viollet, Louis, Huff, Chad, Jorde, Lynn B., Reyna, Sandra P., Murphy, Kelley J., Shianna, Kevin V., Gumbs, Curtis E., Little, Latasha, Silver, Kenneth, Ptác̆ek, Louis J., Haan, Joost, Ferrari, Michel D., Bye, Ann M., Herkes, Geoffrey K., Whitelaw, Charlotte M., Webb, David, Lynch, Bryan J., Uldall, Peter, King, Mary D., Scheffer, Ingrid E., Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M.J.M., Sisodiya, Sanjay M., Mikati, Mohamad A., Goldstein, David B., Nicole, Sophie, Gurrieri, Fiorella, Neri, Giovanni, de Vries, Boukje, Koelewijn, Stephany, Kamphorst, Jessica, Geilenkirchen, Marije, Pelzer, Nadine, Laan, Laura, Haan, Joost, Ferrari, Michel, van den Maagdenberg, Arn, Zucca, Claudio, Bassi, Maria Teresa, Franchini, Filippo, Vavassori, Rosaria, Giannotta, Melania, Gobbi, Giuseppe, Granata, Tiziana, Nardocci, Nardo, De Grandis, Elisa, Veneselli, Edvige, Stagnaro, Michela, Gurrieri, Fiorella, Neri, Giovanni, Vigevano, Federico, Panagiotakaki, Eleni, Oechsler, Claudia, Arzimanoglou, Alexis, Nicole, Sophie, Giannotta, Melania, Gobbi, Giuseppe, Ninan, Miriam, Neville, Brian, Ebinger, Friedrich, Fons, Carmen, Campistol, Jaume, Kemlink, David, Nevsimalova, Sona, Laan, Laura, Peeters-Scholte, Cacha, van den Maagdenberg, Arn, Casaer, Paul, Casari, Giorgio, Sange, Guenter, Spiel, Georg, Boneschi, Filippo Martinelli, Zucca, Claudio, Bassi, Maria Teresa, Schyns, Tsveta, Crawley, Francis, Poncelin, Dominique, Vavassori, Rosaria
Published 2012