by Oaks, Zachary, Jimah, John, Grossman, Craig C., Beckford, Miguel, Kelly, Ryan, Banerjee, Sanjay, Niland, Brian, Miklossy, Gabriella, Kuloglu, Zarife, Kansu, Aydan, Lee, William, Szonyi, Laszlo, Banki, Katalin, Perl, Andras
Published in Journal of inherited metabolic disease (01.05.2020)

by Imamura, Ikumi, Kiyama, Ryoiti
Published in Biochimica et biophysica acta. General subjects (01.08.2024)

by Afzali, Behdad, Grönholm, Juha, Vandrovcova, Jana, O'Brien, Charlotte, Sun, Hong-Wei, Vanderleyden, Ine, Davis, Fred P, Khoder, Ahmad, Zhang, Yu, Hegazy, Ahmed N, Villarino, Alejandro V, Palmer, Ira W, Kaufman, Joshua, Watts, Norman R, Kazemian, Majid, Kamenyeva, Olena, Keith, Julia, Sayed, Anwar, Kasperaviciute, Dalia, Mueller, Michael, Hughes, Jason D, Fuss, Ivan J, Sadiyah, Mohammed F, Montgomery-Recht, Kim, McElwee, Joshua, Restifo, Nicholas P, Strober, Warren, Linterman, Michelle A, Wingfield, Paul T, Uhlig, Holm H, Roychoudhuri, Rahul, Aitman, Timothy J, Kelleher, Peter, Lenardo, Michael J, O'Shea, John J, Cooper, Nichola, Laurence, Arian D J
Published in Nature immunology (01.07.2017)

by Amenta, Simona, Frangella, Silvia, Marangi, Giuseppe, Lattante, Serena, Ricciardi, Stefania, Doronzio, Paolo Niccolò, Orteschi, Daniela, Veredice, Chiara, Contaldo, Ilaria, Zampino, Giuseppe, Gentile, Mattia, Scarano, Emanuela, Graziano, Claudio, Zollino, Marcella
Published in Journal of medical genetics (01.02.2022)

by Rossetti, Linda Z., Glinton, Kevin, Yuan, Bo, Liu, Pengfei, Pillai, Nishitha, Mizerik, Elizabeth, Magoulas, Pilar, Rosenfeld, Jill A., Karaviti, Lefkothea, Sutton, Vernon R., Lalani, Seema R., Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.07.2019)

by Ghosh, Rajarshi, Bosticardo, Marita, Singh, Sunita, Similuk, Morgan, Delmonte, Ottavia M., Pala, Francesca, Peng, Christine, Jodarski, Colleen, Keller, Michael D., Chinn, Ivan K., Groves, Andrew K., Notarangelo, Luigi D., Walkiewicz, Magdalena A., Chinen, Javier, Bundy, Vanessa
Published in Journal of allergy and clinical immunology (01.12.2022)

by Schanze, Ina, Bunt, Jens, Lim, Jonathan W.C., Schanze, Denny, Dean, Ryan J., Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven, Boppudi, Sangamitra, Bridges, Caitlin J., Cho, Megan T., Dobyns, William B., Donnai, Dian, Douglas, Jessica, Earl, Dawn L., Edwards, Timothy J., Faivre, Laurence, Fregeau, Brieana, Genevieve, David, Gérard, Marion, Gatinois, Vincent, Holder-Espinasse, Muriel, Huth, Samuel F., Izumi, Kosuke, Kerr, Bronwyn, Lacaze, Elodie, Lakeman, Phillis, Mahida, Sonal, Mirzaa, Ghayda M., Morgan, Sian M., Nowak, Catherine, Peeters, Hilde, Petit, Florence, Pilz, Daniela T., Puechberty, Jacques, Reinstein, Eyal, Rivière, Jean-Baptiste, Santani, Avni B., Schneider, Anouck, Sherr, Elliott H., Smith-Hicks, Constance, Wieland, Ilse, Zackai, Elaine, Zhao, Xiaonan, Gronostajski, Richard M., Zenker, Martin, Richards, Linda J.
Published in American journal of human genetics (01.11.2018)

by Bolze, Alexandre, Mahlaoui, Nizar, Byun, Minji, Turner, Bridget, Trede, Nikolaus, Ellis, Steven R., Abhyankar, Avinash, Itan, Yuval, Patin, Etienne, Brebner, Samuel, Sackstein, Paul, Puel, Anne, Picard, Capucine, Abel, Laurent, Quintana-Murci, Lluis, Faust, Saul N., Williams, Anthony P., Baretto, Richard, Duddridge, Michael, Kini, Usha, Pollard, Andrew J., Gaud, Catherine, Frange, Pierre, Orbach, Daniel, Emile, Jean-Francois, Stephan, Jean-Louis, Sorensen, Ricardo, Plebani, Alessandro, Hammarstrom, Lennart, Conley, Mary Ellen, Selleri, Licia, Casanova, Jean-Laurent
Published in Science (American Association for the Advancement of Science) (24.05.2013)

by Guérin, Antoine, Kerner, Gaspard, Marr, Nico, Markle, Janet G, Fenollar, Florence, Wong, Natalie, Boughorbel, Sabri, Avery, Danielle T, Ma, Cindy S, Bougarn, Salim, Bouaziz, Matthieu, Béziat, Vivien, Della Mina, Erika, Oleaga-Quintas, Carmen, Lazarov, Tomi, Worley, Lisa, Nguyen, Tina, Patin, Etienne, Deswarte, Caroline, Martinez-Barricarte, Rubén, Boucherit, Soraya, Ayral, Xavier, Edouard, Sophie, Boisson-Dupuis, Stéphanie, Rattina, Vimel, Bigio, Benedetta, Vogt, Guillaume, Geissmann, Frédéric, Quintana-Murci, Lluis, Chaussabel, Damien, Tangye, Stuart G, Raoult, Didier, Abel, Laurent, Bustamante, Jacinta, Casanova, Jean-Laurent
Published in eLife (14.03.2018)

by Konno, Takuya, Tada, Masayoshi, Tada, Mari, Koyama, Akihide, Nozaki, Hiroaki, Harigaya, Yasuo, Nishimiya, Jin, Matsunaga, Akiko, Yoshikura, Nobuaki, Ishihara, Kenji, Arakawa, Musashi, Isami, Aiko, Okazaki, Kenichi, Yokoo, Hideaki, Itoh, Kyoko, Yoneda, Makoto, Kawamura, Mitsuru, Inuzuka, Takashi, Takahashi, Hitoshi, Nishizawa, Masatoyo, Onodera, Osamu, Kakita, Akiyoshi, Ikeuchi, Takeshi
Published in Neurology (14.01.2014)

by Ortiz-Cruz, Carlos Alberto, Marquez, Emiliano Jimenez, Linares-García, Carlos Iván, Perera-Murcia, Gerardo Rodrigo, Ramiro-Cortés, Yazmín
Published in Scientific reports (23.12.2022)

by Riga, Maurizio S, Pérez-Fernández, Mercedes, Miquel-Rio, Lluis, Paz, Verónica, Campa, Leticia, Martínez-Losa, Magdalena, Esteban, Francisco J, Callado, Luis F, Meana, Javier, Artigas, Francesc, Bortolozzi, Analía, Álvarez-Dolado, Manuel
Published in Brain (London, England : 1878) (03.12.2024)

by Oleaga-Quintas, Carmen, de Oliveira-Júnior, Edgar Borges, Rosain, Jérémie, Rapaport, Franck, Deswarte, Caroline, Guérin, Antoine, Sajjath, Sairaj Munavar, Zhou, Yu Jerry, Marot, Stéphane, Lozano, Claire, Branco, Lidia, Fernández-Hidalgo, Nuria, Lew, Dukhee Betty, Brunel, Anne-Sophie, Thomas, Caroline, Launay, Elise, Arias, Andrés Augusto, Cuffel, Alexis, Monjo, Vanesa Cunill, Neehus, Anna-Lena, Marques, Laura, Roynard, Manon, Moncada-Vélez, Marcela, Gerçeker, Bengü, Colobran, Roger, Vigué, Marie-Gabrielle, Lopez-Herrera, Gabriela, Berron-Ruiz, Laura, Méndez, Nora Hilda Segura, O’Farrill Romanillos, Patricia, Le Voyer, Tom, Puel, Anne, Bellanné-Chantelot, Christine, Ramirez, Kacy A., Lorenzo-Diaz, Lazaro, Alejo, Noé Ramirez, de Diego, Rebeca Pérez, Condino-Neto, Antonio, Mellouli, Fethi, Rodriguez-Gallego, Carlos, Witte, Torsten, Restrepo, José Franco, Jobim, Mariana, Boisson-Dupuis, Stéphanie, Jeziorski, Eric, Fieschi, Claire, Vogt, Guillaume, Donadieu, Jean, Pasquet, Marlène, Vasconcelos, Julia, Ardeniz, Fatma Omur, Martínez-Gallo, Mónica, Campos, Regis A., Jobim, Luiz Fernando, Martínez-Barricarte, Rubén, Liu, Kang, Cobat, Aurélie, Abel, Laurent, Casanova, Jean-Laurent, Bustamante, Jacinta
Published in Journal of clinical immunology (01.04.2021)

by Lai, Y. W., Tan, J., Thong, B. Y. H., Lim, Y. L., Lee, J., Chua, C. G., Lim, X. R.
Published in Annals of the rheumatic diseases (01.06.2023)

by Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.
Published in American journal of human genetics (06.07.2017)

by Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S.V., Taylor, Edward J., Collinson, Claire S., Ruddy, Deborah, Snape, Katie M., Dallapiccola, Bruno, Tolmie, John L., Joss, Shelagh, Brancati, Francesco, Digilio, Maria Cristina, Graul-Neumann, Luitgard M., Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D., Trembath, Richard C.
Published in Circulation. Cardiovascular genetics (01.08.2015)

by Dentici, Maria Lisa, Barresi, Sabina, Niceta, Marcello, Pantaleoni, Francesca, Pizzi, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Digilio, Maria Cristina
Published in Clinical genetics (01.02.2018)

by Ji, Jianling, Lee, Hane, Argiropoulos, Bob, Dorrani, Naghmeh, Mann, John, Martinez-Agosto, Julian A, Gomez-Ospina, Natalia, Gallant, Natalie, Bernstein, Jonathan A, Hudgins, Louanne, Slattery, Leah, Isidor, Bertrand, Le Caignec, Cédric, David, Albert, Obersztyn, Ewa, Wiśniowiecka-Kowalnik, Barbara, Fox, Michelle, Deignan, Joshua L, Vilain, Eric, Hendricks, Emily, Horton Harr, Margaret, Noon, Sarah E, Jackson, Jessi R, Wilkens, Alisha, Mirzaa, Ghayda, Salamon, Noriko, Abramson, Jeff, Zackai, Elaine H, Krantz, Ian, Innes, A Micheil, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola
Published in European journal of human genetics : EJHG (01.11.2015)

by Sapio, Matthew R., Iadarola, Michael J., LaPaglia, Danielle M., Lehky, Tanya, Thurm, Audrey E., Danley, Kristen M., Fuhr, Shannon R., Lee, Mark D., Huey, Amanda E., Sharp, Stephen J., Tsao, Jack W., Yanovski, Jack A., Mannes, Andrew J., Han, Joan C.
Published in Pain (Amsterdam) (01.05.2019)

by Traverso, Monica, Baratto, Serena, Iacomino, Michele, Di Duca, Marco, Panicucci, Chiara, Casalini, Sara, Grandis, Marina, Falace, Antonio, Torella, Annalaura, Picillo, Esther, Onore, Maria Elena, Politano, Luisa, Nigro, Vincenzo, Innes, A. Micheil, Barresi, Rita, Bruno, Claudio, Zara, Federico, Fiorillo, Chiara, Scala, Marcello
Published in European journal of human genetics : EJHG (01.03.2024)