by Travaglini, Lorena, Shalev, Stavit, Attié-Bitach, Tania, Alkindy, Adila, Sagie, Tally Lerman, Mazzotta, Annalisa, Lee, Ji Eun, Hildebrandt, Friedhelm, Lev, Dorit, Elkhartoufi, Nadia, Michelson, Marina, Inglehearn, Chris, Munnich, Arnold, Thomas, Sophie, Ben-Zeev, Bruria, Russ, Carsten, Dallapiccola, Bruno, Fede, Carmelo, Gleeson, Joseph G, Tolentino, Jerlyn C, Yaron, Yuval, Krause, Amanda, Mougou-Zerelli, Soumaya, Johnson, Colin A, Otto, Edgar A, Silhavy, Jennifer L, Cibulskis, Kristian, Salpietro, Carmelo D, Diplas, Bill H, Davis, Erica E, Sougnez, Carrie, Lee, Jeong Ho, Saad, Ali, Illi, Barbara, Swistun, Dominika, Saunier, Sophie, Boltshauser, Eugen, Vekemans, Michel, Gabriel, Stacey, Szymanska, Katarzyna, Adams, Matthew, Logan, Clare V, Romani, Sveva, Valente, Enza Maria, Brancati, Francesco, Mikula, Mario, Strom, Charles M, Katsanis, Nicholas, Iannicelli, Miriam, Roume, Joelle, Held, Susanne
Published in Nature genetics (01.07.2010)

by Lee, Ji Eun, Silhavy, Jennifer L, Zaki, Maha S, Schroth, Jana, Bielas, Stephanie L, Marsh, Sarah E, Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M, Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V, Glass, Ian A, Cluckey, Andrew, Louie, Carrie M, Lee, Jeong Ho, Raynes, Hilary R, Rapin, Isabelle, Castroviejo, Ignacio P, Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F, Hildebrandt, Friedhelm, Johnson, Colin A, Doherty, Daniel A, Valente, Enza Maria, Gleeson, Joseph G
Published in Nature genetics (01.02.2012)

by Brancati, Francesco, Fortugno, Paola, Bottillo, Irene, Lopez, Marc, Josselin, Emmanuelle, Boudghene-Stambouli, Omar, Agolini, Emanuele, Bernardini, Laura, Bellacchio, Emanuele, Iannicelli, Miriam, Rossi, Alfredo, Dib-Lachachi, Amina, Stuppia, Liborio, Palka, Giandomenico, Mundlos, Stefan, Stricker, Sigmar, Kornak, Uwe, Zambruno, Giovanna, Dallapiccola, Bruno
Published in American journal of human genetics (13.08.2010)

by Poretti, Andrea, Vitiello, Giuseppina, Hennekam, Raoul C M, Arrigoni, Filippo, Bertini, Enrico, Borgatti, Renato, Brancati, Francesco, D'Arrigo, Stefano, Faravelli, Francesca, Giordano, Lucio, Huisman, Thierry A G M, Iannicelli, Miriam, Kluger, Gerhard, Kyllerman, Marten, Landgren, Magnus, Lees, Melissa M, Pinelli, Lorenzo, Romaniello, Romina, Scheer, Ianina, Schwarz, Christoph E, Spiegel, Ronen, Tibussek, Daniel, Valente, Enza Maria, Boltshauser, Eugen
Published in Orphanet journal of rare diseases (11.01.2012)

by JEONG HO LEE, SILHAVY, Jennifer L, GABRIEL, Stacey B, RUSS, Carsten, LOGAN, Clare V, MALIK SHARIF, Saghira, BENNETT, Christopher P, ABE, Masumi, HILDEBRANDT, Friedhelm, DIPLAS, Bill H, ATTIE-BITACH, Tania, KATSANIS, Nicholas, JI EUN LEE, RAJAB, Anna, KOUL, Roshan, SZTRIHA, Laszlo, WATERS, Elizabeth R, FERRO-NOVICK, Susan, GEOFFREY WOODS, C, JOHNSON, Colin A, MARIA VALENCE, Enza, ZAKI, Maha S, GLEESON, Joseph G, AL-GAZALI, Lihadh, THOMAS, Sophie, DAVIS, Erica E, BIELAS, Stephanie L, HILL, Kiley J, LANNICELLI, Miriam, BRANCATI, Francesco
Published in Science (American Association for the Advancement of Science) (24.02.2012)

by Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Cilio, Maria Roberta, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria
Published in European journal of human genetics : EJHG (01.10.2013)

by Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Luigi Ardissino, Gian, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Penzien, Johannes, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G, Attie-Bitach, Tania, Valente, Enza Maria
Published in Human mutation (01.05.2010)

by Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Mazzotta, Annalisa, Bertini, Enrico, Boltshauser, Eugen, D'Arrigo, Stefano, Emma, Francesco, Fazzi, Elisa, Gallizzi, Romina, Gentile, Mattia, Loncarevic, Damir, Mejaski-Bosnjak, Vlatka, Pantaleoni, Chiara, Rigoli, Luciana, Salpietro, Carmelo D, Signorini, Sabrina, Stringini, Gilda Rita, Verloes, Alain, Zabloka, Dominika, Dallapiccola, Bruno, Gleeson, Joseph G, Valente, Enza Maria
Published in Human mutation (01.02.2009)

by SINIBALDI, L, HARIFI, G, BOTTILLO, I, IANNICELLI, M, EL HASSANI, S, BRANCATI, F, DALLAPICCOLA, B
Published in Clinical and experimental rheumatology (01.03.2010)

by Lee, Jeong Ho, Silhavy, Jennifer L., Lee, Ji Eun, Al-Gazali, Lihadh, Thomas, Sophie, Davis, Erica E., Bielas, Stephanie L., Hill, Kiley J., Iannicelli, Miriam, Brancati, Francesco, Gabriel, Stacey B., Russ, Carsten, Logan, Clare V., Sharif, Saghira Malik, Bennett, Christopher P., Abe, Masumi, Hildebrandt, Friedhelm, Diplas, Bill H., Attié-Bitach, Tania, Katsanis, Nicholas, Rajab, Anna, Koul, Roshan, Sztriha, Laszlo, Waters, Elizabeth R., Ferro-Novick, Susan, Woods, C. Geoffrey, Johnson, Colin A., Valente, Enza Maria, Zaki, Maha S., Gleeson, Joseph G.
Published in Science (American Association for the Advancement of Science) (24.02.2012)

by Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria
Published in American journal of medical genetics. Part A (01.10.2009)

by TRAVAGLINI, Lorena, BRANCATI, Francesco, ROZET, Jean-Michel, SWISTUN, Dominika, TOLENTINO, Jerlyn, DALLAPICCOLA, Bruno, GLEESON, Joseph G, VALENTE, Enza Maria, ATTIE-BITACH, Tania, AUDPLLENT, Sophie, BERTINI, Enrico, KAPLAN, Josseline, PERRAULT, Isabelle, IANNICELLI, Miriam, MANCUSO, Brunella, RIGOLI, Luciana
Published in American journal of medical genetics. Part A (2009)