De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

Tekijä Usmani, Muhammad A., Ahmed, Zubair M., Magini, Pamela, Pienkowski, Victor Murcia, Rasmussen, Kristen J., Hernan, Rebecca, Rasheed, Faiza, Hussain, Mureed, Shahzad, Mohsin, Lanpher, Brendan C., Niu, Zhiyv, Lim, Foong-Yen, Pippucci, Tommaso, Ploski, Rafal, Kraus, Verena, Matuszewska, Karolina, Palombo, Flavia, Kianmahd, Jessica, Martinez-Agosto, Julian A., Lee, Hane, Colao, Emma, Motazacker, M. Mahdi, Brigatti, Karlla W., Puffenberger, Erik G., Riazuddin, S. Amer, Gonzaga-Jauregui, Claudia, Chung, Wendy K., Wagner, Matias, Schultz, Matthew J., Seri, Marco, Kievit, Anneke J.A., Perrotti, Nicola, Klein Wassink-Ruiter, J.S., van Bokhoven, Hans, Riazuddin, Sheikh, Riazuddin, Saima
Julkaisussa Am J Hum Genet (2021)

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Tekijä Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Julkaisussa Eur J Hum Genet (2020)