Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Por Verdonschot, Job A. J., Robinson, Emma L., James, Kiely N., Mohamed, Mohamed W., Claes, Godelieve R. F., Casas, Kari, Vanhoutte, Els K., Hazebroek, Mark R., Kringlen, Gabriel, Pasierb, Michele M., van den Wijngaard, Arthur, Glatz, Jan F. C., Heymans, Stephane R. B., Krapels, Ingrid P. C., Nahas, Shareef, Brunner, Han G., Szklarczyk, Radek
Publicado no Mol Genet Genomic Med (2019)

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Por Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Uysal, Betül, Schwarz, Niklas, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Kruer, Michael C., Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xin, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Haan, Eric, Smith, Nicholas, Corbett, Mark A., MacLennan, Alastair H., Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H., Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Casas, Kari, El Achkar, Christelle M., Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Helbig, Ingo, Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.
Publicado no Am J Hum Genet (2018)

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Por Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Uysal, Betül, Schwarz, Niklas, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Kruer, Michael C., Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E., Katsanis, Nicholas, Corbett, Mark A., MacLennan, Alastair H., Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H., Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Casas, Kari, El Achkar, Christelle M., Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Helbig, Ingo, Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.
Publicado no Am J Hum Genet (2019)