A Case of True Hermaphroditism Presenting as a Testicular Tumour

por Ceci, Michelle, Calleja, Edward, Said, Edith, Gatt, Noel
Publicado no Case Rep Urol (2015)

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

por Said, Edith, Chong, Jessica X., Hempel, Maja, Denecke, Jonas, Soler, Paul, Strom, Tim, Nickerson, Deborah A., Kubisch, Christian, Bamshad, Michael, Lessel, Davor
Publicado no Am J Med Genet A (2017)

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

por Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna
Publicado no Eur J Hum Genet (2019)

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

por Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna
Publicado no Eur J Hum Genet (2019)

Eight previously unidentified mutations found in the OA1 ocular albinism gene

por Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, Bonneau, Dominique, Munier, Francis L, Schorderet, Daniel F, Levin, Alex V, Héon, Elise, Sutherland, Joanne, Lacombe, Didier, Said, Edith, Mezer, Eedy, Kaplan, Josseline, Dufier, Jean-Louis, Marsac, Cécile, Menasche, Maurice, Abitbol, Marc
Publicado em 2006

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

por Johari, Mridul, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Savarese, Marco, Jokela, Manu, Torella, Annalaura, Piluso, Giulio, Said, Edith, Vella, Norbert, Cauchi, Marija, Magot, Armelle, Magri, Francesca, Mauri, Eleonora, Kornblum, Cornelia, Reimann, Jens, Stojkovic, Tanya, Romero, Norma B., Luque, Helena, Huovinen, Sanna, Lahermo, Päivi, Donner, Kati, Comi, Giacomo Pietro, Nigro, Vincenzo, Hackman, Peter, Udd, Bjarne
Publicado no Acta Neuropathol (2021)

International consensus recommendations on the diagnostic work-up for malformations of cortical development

por Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., Di Donato, Nataliya
Publicado no Nat Rev Neurol (2020)

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

por Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabińska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina
Publicado no Am J Hum Genet (2021)

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

por Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
Publicado no Nat Genet (2014)

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

por Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz
Publicado no Brain (2016)