The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

por Pinheiro, Franciele Cabral, Ligabue-Braun, Rodrigo, de Siqueira, Ana Cecília Menezes, Matuella, Camila, de Souza, Carolina Fischinger Moura, Monteiro, Fabíola Paoli, Kok, Fernando, Schwartz, Ida Vanessa Doederlein, Sperb-Ludwig, Fernanda
Publicado en Genet Mol Biol (2021)

Expanding the molecular and clinical phenotype of SSR4-CDG

por Ng, Bobby G., Raymond, Kimiyo, Kircher, Martin, Buckingham, Kati J., Wood, Tim, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Wong, Jonathan T.S., Monteiro, Fabiola Paoli, Graham, Brett H., Jackson, Sheryl, Sparkes, Rebecca, Scheuerle, Angela E., Cathey, Sara, Kok, Fernando, Gibson, James B., Freeze, Hudson H.
Publicado en Hum Mutat (2015)

Early role for a Na(+),K(+)-ATPase (ATP1A3) in brain development

por Smith, Richard S., Florio, Marta, Akula, Shyam K., Neil, Jennifer E., Wang, Yidi, Hill, R. Sean, Goldman, Melissa, Mullally, Christopher D., Reed, Nora, Bello-Espinosa, Luis, Flores-Sarnat, Laura, Monteiro, Fabiola Paoli, Erasmo, Casella B., Pinto e Vairo, Filippo, Morava, Eva, Barkovich, A. James, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A., McCarroll, Steven A., Walsh, Christopher A.
Publicado en Proc Natl Acad Sci U S A (2021)

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

por Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco
Publicado en Am J Hum Genet (2021)