Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

gan Fry, Andrew E., Marra, Christopher, Derrick, Anna V., Pickrell, William O., Higgins, Adam T., te Water Naude, Johann, McClatchey, Martin A., Davies, Sally J., Metcalfe, Kay A., Tan, Hui Jeen, Mohanraj, Rajiv, Avula, Shivaram, Williams, Denise, Brady, Lauren I., Mesterman, Ronit, Tarnopolsky, Mark A., Zhang, Yuehua, Yang, Ying, Wang, Xiaodong, Rees, Mark I., Goldfarb, Mitchell, Chung, Seo-Kyung
Cyhoeddwyd yn Am J Hum Genet (2021)

Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia

gan Broix, Loïc, Jagline, Hélène, Ivanova, Ekaterina, Schmucker, Stéphane, Drouot, Nathalie, Clayton-Smith, Jill, Pagnamenta, Alistair T., Metcalfe, Kay.A., Isidor, Bertrand, Louvier, Ulrike Walther, Poduri, Annapurna, Taylor, Jenny C., Tilly, Peggy, Poirier, Karine, Saillour, Yoann, Lebrun, Nicolas, Stemmelen, Tristan, Rudolf, Gabrielle, Muraca, Giuseppe, Saintpierre, Benjamin, Elmorjani, Adrienne, Moïse, Martin, Weirauch, Nathalie Bednarek, Guerrini, Renzo, Boland, Anne, Olaso, Robert, Masson, Cecile, Tripathy, Ratna, Keays, David, Beldjord, Cherif, Nguyen, Laurent, Godin, Juliette, Kini, Usha, Nischké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Sumara, Izabela, Hinckelmann, Maria-Victoria, Chelly, Jamel
Cyhoeddwyd yn Nat Genet (2016)

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

gan Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S., Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E., Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A., Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O’Connell, Susan M., Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A., Sherlock, Mark, Syverson, Erin, White, Perrin C., Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B., Semple, Robert K., Boulton, Simon J., Rios, Jonathan J., Jackson, Andrew P.
Cyhoeddwyd yn Am J Hum Genet (2018)