by Marta, Ana, Marques, João Pedro, Santos, Cristina, Coutinho-Santos, Luísa, Vaz-Pereira, Sara, Costa, José, Arede, Pedro, Félix, Raquel, Geada, Sara, Gouveia, Nuno, Silva, Rui, Baptista, Margarida, Lume, Miguel, Parreira, Ricardo, Azevedo Soares, Célia, Menéres, Maria João, Lemos, Carolina, Melo Beirão, João
Published in Orphanet journal of rare diseases (09.04.2024)

by Moye, Abigail R, Bedoni, Nicola, Cunningham, Jessica G, Sanzhaeva, Urikhan, Tucker, Eric S, Mathers, Peter, Peter, Virginie G, Quinodoz, Mathieu, Paris, Liliana P, Coutinho-Santos, Luísa, Camacho, Pedro, Purcell, Madeleine G, Winkelmann, Abbie C, Foster, James A, Pugacheva, Elena N, Rivolta, Carlo, Ramamurthy, Visvanathan
Published in PLoS genetics (19.08.2019)

by Quinodoz, Mathieu, Peter, Virginie G, Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Santos, Maria Luisa, Superti-Furga, Andrea, Rivolta, Carlo
Published in Nature communications (22.01.2021)

by Santos, Cristina, Almeida, Andreia, Pinto, Rita, Kaminska, Karolina, Peter, Virginie G., Sousa, Ana-Berta, Rivolta, Carlo, Coutinho-Santos, Luísa
Published in Ophthalmic genetics (04.07.2022)

by Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Coutinho Santos, Luisa, Damme, Markus, Rivolta, Carlo
Published in Human mutation (01.03.2021)

by Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Santos, Luisa Coutinho, Damme, Markus, Rivolta, Carlo
Published in Human mutation (01.12.2022)

by Cortinhal, Telmo, Santos, Cristina, Vaz-Pereira, Sara, Marta, Ana, Duarte, Lilianne, Miranda, Vitor, Costa, José, Sousa, Ana Berta, Peter, Virginie G., Kaminska, Karolina, Rivolta, Carlo, Carvalho, Ana Luísa, Saraiva, Jorge, Soares, Célia Azevedo, Silva, Rufino, Murta, Joaquim, Santos, Luísa Coutinho, Marques, João Pedro
Published in Graefe's archive for clinical and experimental ophthalmology (01.06.2024)

by Peter, Virginie G, Kaminska, Karolina, Santos, Cristina, Quinodoz, Mathieu, Cancellieri, Francesca, Cisarova, Katarina, Pescini Gobert, Rosanna, Rodrigues, Raquel, Custódio, Sónia, Paris, Liliana P, Sousa, Ana Berta, Coutinho Santos, Luisa, Rivolta, Carlo
Published in PNAS nexus (01.03.2023)

by Sundin, Olof H., Leppert, Gregory S., Silva, Eduardo D., Yang, Jun-Ming, Dharmaraj, Sharola, Maumenee, Irene H., Santos, Luisa Coutinho, Parsa, Cameron F., Traboulsi, Elias I., Broman, Karl W., DiBernardo, Cathy, Sunness, Janet S., Toy, Jeffrey, Weinberg, Ethan M., Nathans, Jeremy
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2005)

by Sangermano, Riccardo, Deitch, Iris, Peter, Virginie G., Ba-Abbad, Rola, Place, Emily M., Zampaglione, Erin, Wagner, Naomi E., Fulton, Anne B., Coutinho-Santos, Luisa, Rosin, Boris, Dunet, Vincent, AlTalbishi, Ala’a, Banin, Eyal, Sousa, Ana Berta, Neves, Mariana, Larson, Anna, Quinodoz, Mathieu, Michaelides, Michel, Ben-Yosef, Tamar, Pierce, Eric A., Rivolta, Carlo, Webster, Andrew R., Arno, Gavin, Sharon, Dror, Huckfeldt, Rachel M., Bujakowska, Kinga M.
Published in Npj genomic medicine (29.06.2021)

by GERBER, Sylvie, ROZET, Jean-Michel, JEANPIERRE, Marc, ROMANA, Serge, FREZAL, Jean, FERRAZ, Fernando, YU-UMESONO, Ruth, MUNNICH, Arnold, KAPLAN, Josseline, TAKEZAWAN, Shin-Ichiro, DOS SANTOS, Luisa Coutinho, LOPES, Lucilia, GRIBOUVAL, Olivier, PENET, Clotilde, PERRAULT, Isabelle, DUCROQ, Dominique, SOUIED, Eric
Published in Human genetics (01.09.2000)

by Iglesias-Romero, Ana Belén, Kaminska, Karolina, Quinodoz, Mathieu, Folcher, Marc, Lin, Siying, Arno, Gavin, Calado, Joaquim, Webster, Andrew R., Moulin, Alexandre, Sousa, Ana Berta, Coutinho-Santos, Luisa, Santos, Cristina, Rivolta, Carlo
Published in American journal of human genetics (03.10.2024)

by Quinodoz, Mathieu, Kaminska, Karolina, Cancellieri, Francesca, Han, Ji Hoon, Peter, Virginie G., Celik, Elifnaz, Janeschitz-Kriegl, Lucas, Schärer, Nils, Hauenstein, Daniela, György, Bence, Calzetti, Giacomo, Hahaut, Vincent, Custódio, Sónia, Sousa, Ana Cristina, Wada, Yuko, Murakami, Yusuke, Fernández, Almudena Avila, Hernández, Cristina Rodilla, Minguez, Pablo, Ayuso, Carmen, Nishiguchi, Koji M., Santos, Cristina, Santos, Luisa Coutinho, Tran, Viet H., Vaclavik, Veronika, Scholl, Hendrik P.N., Rivolta, Carlo
Published in American journal of human genetics (04.04.2024)

by Malka, Samantha, Biswas, Pooja, Berry, Anne-Marie, Sangermano, Riccardo, Ullah, Mukhtar, Lin, Siying, D’Antonio, Matteo, Jestin, Aleksandr, Jiao, Xiaodong, Quinodoz, Mathieu, Sullivan, Lori, Gardner, Jessica C., Place, Emily M., Michaelides, Michel, Kaminska, Karolina, Mahroo, Omar A., Schiff, Elena, Wright, Genevieve, Cancellieri, Francesca, Vaclavik, Veronika, Santos, Cristina, Rehman, Atta Ur, Mehrotra, Sudeep, Azhar Baig, Hafiz Muhammad, Iqbal, Muhammad, Ansar, Muhammad, Santos, Luisa Coutinho, Sousa, Ana Berta, Tran, Viet H., Matsui, Hiroko, Bhatia, Anjana, Naeem, Muhammad Asif, Akram, Shehla J., Akram, Javed, Riazuddin, Sheikh, Ayuso, Carmen, Pierce, Eric A., Hardcastle, Alison J., Riazuddin, S. Amer, Frazer, Kelly A., Hejtmancik, J. Fielding, Rivolta, Carlo, Bujakowska, Kinga M., Arno, Gavin, Webster, Andrew R., Ayyagari, Radha
Published in American journal of human genetics (05.09.2024)