by Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay, Thomas
Published in American journal of human genetics (01.09.2022)

by Engelen, Marc, van Ballegoij, Wouter J C, Mallack, Eric James, Van Haren, Keith P, Köhler, Wolfgang, Salsano, Ettore, van Trotsenburg, A S P, Mochel, Fanny, Sevin, Caroline, Regelmann, Molly O, Tritos, Nicholas A, Halper, Alyssa, Lachmann, Robin H, Davison, James, Raymond, Gerald V, Lund, Troy C, Orchard, Paul J, Kuehl, Joern-Sven, Lindemans, Caroline A, Caruso, Paul, Turk, Bela Rui, Moser, Ann B, Vaz, Frédéric M, Ferdinandusse, Sacha, Kemp, Stephan, Fatemi, Ali, Eichler, Florian S, Huffnagel, Irene C
Published in Neurology (22.11.2022)

by Sharp, Seth A., Rich, Stephen S., Wood, Andrew R., Jones, Samuel E., Beaumont, Robin N., Harrison, James W., Schneider, Darius A., Locke, Jonathan M., Tyrrell, Jess, Weedon, Michael N., Hagopian, William A., Oram, Richard A.
Published in Diabetes care (01.02.2019)

by Mendell, Jerry R., Shilling, Chris, Leslie, Nancy D., Flanigan, Kevin M., al-Dahhak, Roula, Gastier-Foster, Julie, Kneile, Kelley, Dunn, Diane M., Duval, Brett, Aoyagi, Alexander, Hamil, Cindy, Mahmoud, Maha, Roush, Kandice, Bird, Lauren, Rankin, Chelsea, Lilly, Heather, Street, Natalie, Chandrasekar, Ram, Weiss, Robert B.
Published in Annals of neurology (01.03.2012)

by Nunziato, Marcella, Starnone, Flavio, Giordano, Sonia, D'Antonio, Marcella, Scognamiglio, Domenico, Esposito, Maria Valeria, Correra, Antonio, Di Maggio, Federica, D'Argenio, Valeria, Luca Scaglione, Giovanni, Castaldo, Giuseppe, Salvatore, Francesco
Published in Clinica chimica acta (01.01.2024)

by Bhutani, Vinod K., Stark, Ann R., Lazzeroni, Laura C., Poland, Ronald, Gourley, Glenn R., Kazmierczak, Steve, Meloy, Linda, Burgos, Anthony E., Hall, Judith Y., Stevenson, David K.
Published in The Journal of pediatrics (01.03.2013)

by Mendell, Jerry R., Lloyd-Puryear, Michele
Published in Muscle & nerve (01.07.2013)

by Terlizzi, Vito, Fevola, Cristina, Presti, Santiago, Claut, Laura, Ambroni, Maura, Calderazzo, Maria Adelaide, Esposito, Irene, Fabrizzi, Benedetta, Leonetti, Giuseppina, Lombardo, Mariangela, Maschio, Massimo, Palladino, Nicola, Pauro, Francesca, Pisi, Giovanna, Ripani, Pietro, Ros, Mirco, Rotolo, Novella, Salvatore, Donatello, Sepe, Angela, Termini, Lisa, Timpano, Silviana, Troiani, Patrizia, Vitullo, Pamela, Zanda, Maurizio, Blasi, Francesco, Castellani, Carlo
Published in Pediatric pulmonology (01.01.2025)

by Kingsmore, Stephen F., Wright, Meredith, Olsen, Lauren, Schultz, Brandan, Protopsaltis, Liana, Averbuj, Dan, Blincow, Eric, Carroll, Jeanne, Caylor, Sara, Defay, Thomas, Ellsworth, Katarzyna, Feigenbaum, Annette, Gover, Mia, Guidugli, Lucia, Hansen, Christian, Van Der Kraan, Lucita, Kunard, Chris M., Kwon, Hugh, Madhavrao, Lakshminarasimha, Leipzig, Jeremy, Liang, Yupu, Mardach, Rebecca, Mowrey, William R., Nguyen, Hung, Niemi, Anna-Kaisa, Oh, Danny, Saad, Muhammed, Scharer, Gunter, Schleit, Jennifer, Mehtalia, Shyamal S., Sanford, Erica, Smith, Laurie D., Willis, Mary J., Wigby, Kristen, Reimers, Rebecca
Published in American journal of human genetics (05.12.2024)

by Mütze, Ulrike, Scharré, Svenja, Schnabel-Besson, Elena, Kuseyri Hübschmann, Oya, Höster, Friederike, Tuncel, Ali Tunҫ, Kölker, Stefan, Opladen, Thomas
Published in European journal of paediatric neurology (01.05.2025)

by Zaki, Umaima, Qazi, Saqib Hamid, Shamim, Urooj, Fatima, Shibrah, Das, Jai K., Bhutta, Zulfiqar A.
Published in Neonatology (Basel, Switzerland) (01.03.2025)

by Weber, Jennifer, Vadasz-Chates, Nataly, Wade, Christine, Micetic, Becky, Gerkin, Richard, Rao, Suma
Published in American journal of perinatology (01.05.2023)

by Phanguphangu, Mukovhe, Ross, Andrew John
Published in International journal of pediatric otorhinolaryngology (01.08.2025)

by Izquierdo, Giannina, Farfan, Mauricio J, Villavicencio, Leonel, Montecinos, Luisa, Tarque, Felipe, Acevedo, William, Reyes, Roberto, Guerra, Carolina, Araya, Leslie, Sepúlveda, Belén, Cabrera, Camila, Medina, Pamela, Mendez, Jocelyn, Mardones, Elieder, Torres, Juan P
Published in European journal of pediatrics (01.11.2023)

by Snyder, Matthew T., Divin, Kristian, Liu, Ning, Sun, Qin, Wang, Yue, Luo, Xi, Ben-Moshe, Yishay, Burrage, Lindsay C., Sutton, V. Reid
Published in Molecular genetics and metabolism (01.08.2025)

by Miras Aguilar, Isabel, Fidalgo Marrón, Laura, Pangua Gómez, María, Olteanu Olteanu, Filip Camil, Gilarte Herrera, Cristina Eugenia, Sevilla Ramos, Pilar, Mateo Martínez, Gonzalo, Montes Martín, Laura, Ortigado Matamala, Alfonso
Published in European journal of pediatrics (01.11.2024)

by Millington, David, Norton, Scott, Singh, Raj, Sista, Rama, Srinivasan, Vijay, Pamula, Vamsee
Published in Expert review of molecular diagnostics (03.08.2018)

by Hall, Patricia L., Marquardt, Gregg, McHugh, David M.S., Currier, Robert J., Tang, Hao, Stoway, Stephanie D., Rinaldo, Piero
Published in Genetics in medicine (01.12.2014)

by Scarcella, Melania, Fecarotta, Simona, Alagia, Marianna, Barretta, Ferdinando, Uomo, Fabiana, De Pasquale, Valeria, Patel, Hari S., Strisciuglio, Pietro, Parenti, Giancarlo, Frisso, Giulia, Pavone, Luigi Michele, Ruoppolo, Margherita
Published in Molecular genetics and metabolism (01.02.2025)

by Paton, Robin W.
Published in The surgeon (Edinburgh) (01.10.2017)