by Streff, Haley, Uhles, Crescenda L., Fisher, Heather, Franciskovich, Rachel, Littlejohn, Rebecca O., Gerard, Amanda, Hudnall, Julianna, Smith, Hadley Stevens
Published in Genetics in medicine (01.03.2023)

by Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.
Published in American journal of human genetics (01.09.2016)

by Smith, Hadley Stevens, Franciskovich, Rachel, Lewis, Andrea M., Gerard, Amanda, Littlejohn, Rebecca O., Nugent, Kimberly, Rodriguez, Janah, Streff, Haley
Published in Genetics in medicine (01.05.2021)

by Zarate, Yuri A., Bosanko, Katherine A., Caffrey, Aisling R., Bernstein, Jonathan A., Martin, Donna M., Williams, Marc S., Berry‐Kravis, Elizabeth M., Mark, Paul R., Manning, Melanie A., Bhambhani, Vikas, Vargas, Marcelo, Seeley, Andrea H., Estrada‐Veras, Juvianee I., Dooren, Marieke F., Schwab, Maria, Vanderver, Adeline, Melis, Daniela, Alsadah, Adnan, Sadler, Laurie, Esch, Hilde, Callewaert, Bert, Oostra, Ann, Maclean, Jane, Dentici, Maria Lisa, Orlando, Valeria, Lipson, Mark, Sparagana, Steven P., Maarup, Timothy J., Alsters, Suzanne IM, Brautbar, Ariel, Kovitch, Eliana, Naidu, Sakkubai, Lees, Melissa, Smith, Douglas M., Turner, Lesley, Raggio, Víctor, Spangenberg, Lucía, Garcia‐Miñaúr, Sixto, Roeder, Elizabeth R., Littlejohn, Rebecca O., Grange, Dorothy, Pfotenhauer, Jean, Jones, Marilyn C., Balasubramanian, Meena, Martinez‐Monseny, Antonio, Blok, Lot Snijders, Gavrilova, Ralitza, Fish, Jennifer L.
Published in Human mutation (01.08.2019)

by Santiago-Sim, Teresa, Burrage, Lindsay C., Ebstein, Frédéric, Tokita, Mari J., Miller, Marcus, Bi, Weimin, Braxton, Alicia A., Rosenfeld, Jill A., Shahrour, Maher, Lehmann, Andrea, Cogné, Benjamin, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Bézieau, Stéphane, Hazart, Isabelle, Nagakura, Honey, Immken, LaDonna L., Littlejohn, Rebecca O., Roeder, Elizabeth, Afawi, Zaid, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Craiu, Dana, De Jonghe, Peter, Guerrero-Lopez, Rosa, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, José, Sterbová, Katalin, Suls, Arvid, Moller, Rikke S., Striano, Pasquale, Weber, Yvonne, Zara, Federico, Kara, Bulent, Hardies, Katia, Weckhuysen, Sarah, May, Patrick, Lemke, Johannes R., Elpeleg, Orly, Abu-Libdeh, Bassam, James, Kiely N., Silhavy, Jennifer L., Issa, Mahmoud Y., Zaki, Maha S., Gleeson, Joseph G., Seavitt, John R., Dickinson, Mary E., Ljungberg, M. Cecilia, Wells, Sara, Johnson, Sara J., Teboul, Lydia, Eng, Christine M., Yang, Yaping, Kloetzel, Peter-Michael, Heaney, Jason D., Walkiewicz, Magdalena A.
Published in American journal of human genetics (06.04.2017)

by Assia Batzir, Nurit, Kishor Bhagwat, Pranjali, Larson, Austin, Coban Akdemir, Zeynep, Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Enchautegui Colon, Yazmin, Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C. E., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Mar Fan, Helen, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld‐Adams, James, Wells, Katerina O., Posey, Jennifer E., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.
Published in Human mutation (01.03.2020)

by Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., Littlejohn, Rebecca O., Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander P.A., Kant, Sarina G., McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid M.A., Douzgou, Sofia, Wall, Steven A., Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J., Twigg, Stephen R.F., Mathijssen, Irene M.J., Nellaker, Christoffer, Brunner, Han G., Wilkie, Andrew O.M.
Published in American journal of human genetics (07.06.2018)

by Spinelli, Egidio, Christensen, Kyle R, Bryant, Emily, Schneider, Amy, Rakotomamonjy, Jennifer, Muir, Alison M, Giannelli, Jessica, Littlejohn, Rebecca O, Roeder, Elizabeth R, Schmidt, Berkley, Wilson, William G, Marco, Elysa J, Iwama, Kazuhiro, Kumada, Satoko, Pisano, Tiziana, Barba, Carmen, Vetro, Annalisa, Brilstra, Eva H, van Jaarsveld, Richard H, Matsumoto, Naomichi, Goldberg-Stern, Hadassa, Carney, Patrick W, Andrews, P Ian, El Achkar, Christelle M, Berkovic, Sam, Rodan, Lance H, McWalter, Kirsty, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Mandelstam, Simone, Laux, Linda, Millichap, John J, Guemez-Gamboa, Alicia, Nairn, Angus C, Carvill, Gemma L
Published in Annals of neurology (01.08.2021)

by Ford, Cara P., Littlejohn, Rebecca O., German, Ryan, Vuocolo, Blake, Aceves, Jose, Vossaert, Liesbeth, Owen, Nichole, Wangler, Michael, Schmid, Carrie A.
Published in Molecular genetics & genomic medicine (01.12.2023)

by Szafranski, Przemyslaw, Kośmider, Ewelina, Liu, Qian, Karolak, Justyna A., Currie, Lauren, Parkash, Sandhya, Kahler, Stephen G., Roeder, Elizabeth, Littlejohn, Rebecca O., DeNapoli, Thomas S., Shardonofsky, Felix R., Henderson, Cody, Powers, George, Poisson, Virginie, Bérubé, Denis, Oligny, Luc, Michaud, Jacques L., Janssens, Sandra, Coen, Kris, Dorpe, Jo, Dheedene, Annelies, Harting, Matthew T., Weaver, Matthew D., Khan, Amir M., Tatevian, Nina, Wambach, Jennifer, Gibbs, Kathleen A., Popek, Edwina, Gambin, Anna, Stankiewicz, Paweł
Published in Human mutation (01.12.2018)

by Ortega, Veronica, Louie, Raymond J, Jones, Melanie A, Chaubey, Alka, DuPont, Barbara R, Britt, Allison, Ray, Joseph, McLean, Scott D, Littlejohn, Rebecca O, Velagaleti, Gopalrao
Published in Molecular cytogenetics (14.07.2021)

by Chilton, Ilana, Okur, Volkan, Vitiello, Giuseppina, Selicorni, Angelo, Mariani, Milena, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lichtenbelt, Klaske D., Gassen, Koen, Steinraths, Michelle, Rice, Jennifer, Roeder, Elizabeth R., Littlejohn, Rebecca O., Srour, Myriam, Sebire, Guillaume, Accogli, Andrea, Héron, Delphine, Heide, Solveig, Nava, Caroline, Depienne, Christel, Larson, Austin, Niyazov, Dmitriy, Azage, Meron, Hoganson, George, Burton, Jennifer, Rush, Eric T., Jenkins, Janda L., Saunders, Carol J., Thiffault, Isabelle, Alaimo, Joseph T., Fleischer, Julie, Groepper, Daniel, Gripp, Karen W., Chung, Wendy K.
Published in American journal of medical genetics. Part A (01.05.2020)

by Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, Jr, J Lloyd, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
Published in Genome medicine (28.02.2019)

by Vuocolo, Blake, German, Ryan, Bacino, Carlos, Murali, Chaya, Lalani, Seema, Baskin, Stephanie, Roeder, Elizabeth, Schmid, Carrie, McLean, Scott, Littlejohn, Rebecca, Juarez, Olivia, Stuebben, Melissa, Vossaert, Liesbeth, Owen, Nichole, Eng, Christine, Liu, Pengfei, Liu, Zhandong, Mao, Dongxue, Kim, Seon Young, Pasupuleti, Sasidhar, Yamamoto, Shinya, Bellen, Hugo, Wangler, Michael
Published in Genetics in Medicine Open (2024)

by Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao
Published in American journal of human genetics (05.01.2017)

by Davids, Mariska, Menezes, Minal, Guo, Yiran, McLean, Scott D., Hakonarson, Hakon, Collins, Felicity, Worgan, Lisa, Billington, Charles J., Maric, Irina, Littlejohn, Rebecca Okashah, Onyekweli, Tito, Members of the UDN, Adams, David R., Tifft, Cynthia J., Gahl, William A., Wolfe, Lynne A., Christodoulou, John, Malicdan, May Christine V.
Published in Molecular genetics and metabolism (01.05.2020)

by Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder, Jr, J, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
Published in Genome medicine (25.03.2019)

by von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio D J, Sisodiya, Sanjay M, Helbig, Ingo
Published in Neurology (25.07.2017)

by Bi, Weimin, Yuan, Bo, Liu, Pengfei, Murry, Jaclyn B, Qin, Xiang, Xia, Fan, Quach, Thao, Cooper, Lance M, Wiszniewska, Joanna, Hixson, Patricia, Peacock, Sandra, Tonk, Vijay S, Huff, Robert W, Ortega, Veronica, Lupski, James R, Scherer, Steven E, Littlejohn, Rebecca Okashah, Velagaleti, Gopalrao V N, Roeder, Elizabeth R, Cheung, Sau Wai
Published in Journal of medical genetics (01.06.2023)

by Serey-Gaut, Margaux, Cortes, Marisol, Makrythanasis, Periklis, Suri, Mohnish, Taylor, Alexander M.R., Sullivan, Jennifer A., Asleh, Ayat N., Mitra, Jaba, Dar, Mohamad A., McNamara, Amy, Shashi, Vandana, Dugan, Sarah, Song, Xiaofei, Rosenfeld, Jill A., Cabrol, Christelle, Iwaszkiewicz, Justyna, Zoete, Vincent, Pehlivan, Davut, Akdemir, Zeynep Coban, Roeder, Elizabeth R., Littlejohn, Rebecca Okashah, Dibra, Harpreet K., Byrd, Philip J., Stewart, Grant S., Geckinli, Bilgen B., Posey, Jennifer, Westman, Rachel, Jungbluth, Chelsy, Eason, Jacqueline, Sachdev, Rani, Evans, Carey-Anne, Lemire, Gabrielle, VanNoy, Grace E., O’Donnell-Luria, Anne, Mau-Them, Frédéric Tran, Juven, Aurélien, Piard, Juliette, Nixon, Cheng Yee, Zhu, Ying, Ha, Taekjip, Buckley, Michael F., Thauvin, Christel, Essien Umanah, George K., Van Maldergem, Lionel, Lupski, James R., Roscioli, Tony, Dawson, Valina L., Dawson, Ted M., Antonarakis, Stylianos E.
Published in American journal of human genetics (02.03.2023)