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1. Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome

Author

Metry, Denise, primary, Copp, Hillary L., additional, Rialon, Kristy L., additional, Iacobas, Ionela, additional, Baselga, Eulalia, additional, Dobyns, William B., additional, Drolet, Beth, additional, Frieden, Ilona J., additional, Garzon, Maria, additional, Haggstrom, Anita, additional, Hanson, Darrell, additional, Hollenbach, Laura, additional, Keppler-Noreuil, Kim M., additional, Maheshwari, Mohit, additional, Siegel, Dawn H., additional, Waseem, Shamaila, additional, and Dias, Mark, additional

Published
2024
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2. List of Contributors

Author

Aaen, Gregory, primary, Abroms, Israel F., additional, Ådén, Ulrika, additional, Ahlsten, Gunnar, additional, Aird, Robert B., additional, Al-Zaidy, Samiah A., additional, Andermann, Fred, additional, Anlar, Banu, additional, Arzimanoglou, Alexis, additional, Ashwal, Stephen, additional, Augustine, Erika, additional, Ballaban-Gil, Karen, additional, Bamford, Nigel S., additional, Barlow, Charles F., additional, Bast, Thomas, additional, Bates, David, additional, Baumann, Robert J., additional, Bertini, Enrico, additional, Beya, Alidor, additional, Blaw, Michael, additional, Bodensteiner, John, additional, Bonthius, Daniel J., additional, Brin, Amy E., additional, Brockmann, Knut, additional, Brown, John Keith, additional, Brown, Stuart B., additional, Brumback, Audrey Christine, additional, Bureau, Michelle, additional, Burke, James R., additional, Bye, Annie, additional, Camfield, Carol, additional, Camfield, Peter, additional, Campistol Plana, Jaume, additional, Canale, Dee James, additional, Caneris, Onasis, additional, Caraballo, Roberto H., additional, Caviness, Alison Chantal, additional, Chao, Hsiao-Tuan, additional, Chapman, Catherine A., additional, Chaves-Carballo, Enrique, additional, Cho, Yoon-Jae, additional, Christen, Hans-Jürgen, additional, Chugani, Harry T., additional, Cioni, Giovanni, additional, Clark, David, additional, Cliff, Edward Robert Scheffer, additional, Cochran, Frederick B., additional, Cohen, Bruce H., additional, Cohen, Maynard M., additional, Collins, Kevin, additional, Covanis, Athanasios, additional, Critchley, Macdonald, additional, Cross, J. Helen, additional, Crumrine, Patricia K., additional, Curatolo, Paolo, additional, Davies, Pamela A., additional, deVeber, Gabrielle, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, De Waele, Liesbeth, additional, DeMyer, William, additional, Devlin, Anita, additional, Dobyns, William B., additional, Dodson, W. Edwin, additional, Donald, Kirsty, additional, Duffy, Frank H., additional, Dunn, David W., additional, Dunn, Henry G., additional, Dure, Leon S., additional, Dyken, Paul Richard, additional, Encha-Razavi, Férechté, additional, Erenberg, Gerald, additional, Estes, Melinda L., additional, Evrard, Philippe, additional, Ferriero, Donna, additional, Ferry, Peggy, additional, Fine, Archie, additional, Fine, Edward J., additional, Fine, John S., additional, Finkel, Richard S., additional, Fischer, Alain, additional, Fischer, Christine, additional, Fogan, Lance, additional, Fowler, Glenn W., additional, Frank, Yitzchak, additional, Fullerton, Heather J., additional, Furukawa, Tetsuo, additional, Gabriel, Ronald S., additional, Galanopoulou, Aristea S., additional, Gardner-Medwin, David, additional, Garg, Bhuwan, additional, Genton, Pierre, additional, George, Mark S., additional, Gineste, Thierry, additional, Giza, Christopher C., additional, Goemans, Nathalie, additional, Golden, Gerald S., additional, Golden, Jeffrey Alan, additional, Goldstein, Gary W., additional, Gomez, Christopher, additional, Gomez, Manuel R., additional, Gomez, Timothy, additional, Goodkin, Howard P., additional, Gordon, Neil, additional, Gressens, Pierre, additional, Groger, Helmut, additional, Guerrini, Renzo, additional, Gurnett, Christina A., additional, Gussoni, Emanuela, additional, Haas, Richard, additional, Hagberg, Bengt, additional, Haller, Jerome S., additional, Hartman, Adam L., additional, Haruda, Fred, additional, Hirtz, Deborah, additional, Hogan, Gwendolyn R., additional, Hunt, Guy M., additional, Iannaccone, Susan T., additional, Eleanor Inder, Terrie, additional, Ionasescu, Victor, additional, Jansen, Katrien, additional, Jiang, Yuwu, additional, Kaminski, Henry J., additional, Kamoshita, Shigehiko, additional, Kang, Peter B., additional, Kaufman, David M., additional, Kaufmann, Walter E., additional, Kaye, Edward M., additional, Kellaway, Peter, additional, Kelley, Rhona S., additional, Kennedy, Charles, additional, Kim, Young-Min, additional, Kirby, Michael, additional, Kirton, Adam, additional, Kobayashi, Eliane, additional, Kossoff, Eric H., additional, Koutroumanidis, Michail, additional, Krupp, Lauren, additional, Lange, Bernadette M., additional, Lanska, Douglas J., additional, Lanska, Mary Jo, additional, Larsen, Paul D., additional, Lassoff, Samuel J., additional, Laterra, John, additional, Lemieux, Bernard, additional, Lenn, Nicholas J., additional, Logan, William J., additional, Lomax, Elizabeth, additional, Longo, Lawrence D., additional, Lorris Betz, A., additional, Manyam, Bala V., additional, Marks, Warren A., additional, Massey, E. Wayne, additional, Mate, Laszlo J., additional, McKinlay, Ian, additional, McLean, William T., additional, McLellan, Ailsa, additional, Mehler, Mark F., additional, Melchior, Johannes C., additional, Michelson, David J., additional, Miller, Steven P., additional, Miller, Suzanne L., additional, Millichap, J. Gordon, additional, Minns, Robert A., additional, Mizrahi, Eli M., additional, Moser, Ann B., additional, Moshé, Solomon L., additional, Muhle, Hiltrud, additional, Muntoni, Francesco, additional, Naidu, Sakkubai, additional, Narayanan, Vinodh, additional, Nardocci, Nardo, additional, Neil, Jeffrey J., additional, Neumeyer, Ann, additional, Noetzel, Michael J., additional, Nomura, Yoshiko, additional, Nordli, Douglas R., additional, North, Kathryn, additional, Ohtsuka, Yoko, additional, O’Callaghan, Finbar J.K., additional, Packer, Roger J., additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearl, Phillip L., additional, Philippart, Michel, additional, Pihko, Helena S., additional, Piller, Gordon, additional, Platz, Thomas F., additional, Poduri, Annapurna, additional, Pollack, Michael A., additional, Porter, Brenda E., additional, Provis, Michèle, additional, Rating, Dietz, additional, Reich, Harold, additional, Remler, Bernd, additional, Rho, Jong M., additional, Richards, Peter, additional, Richardson, Edward P., additional, Richardson, Sylvia O., additional, Roach, E. Steve, additional, Rose, Arthur L., additional, Rozear, Marvin P., additional, Rubinstein, Lucien J., additional, Rust, Robert S., additional, Saini, Arushi Gahlot, additional, Saint-Anne Dargassies, Suzanne, additional, Sarnat, Harvey B., additional, Sarwar, Mohammad, additional, Satran, Richard, additional, Schneider, Sanford, additional, Schrank, Waltraud, additional, Scott, Rodney C., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Sestan, Nenad, additional, Shapiro, Steven, additional, Sherr, Elliott H., additional, Shevell, Michael, additional, Shield, Lloyd, additional, Sidman, Richard L., additional, Silverstein, Faye S., additional, Sinnreich, Michael, additional, Snead, O. Carter, additional, Solomons, Regan, additional, Soria-Duran, Emilio, additional, Stafstrom, Carl E., additional, Steven Roach, E., additional, Stevens, Harold, additional, Strassburg, Hans Michael, additional, Stumpf, David A., additional, Sullivan, Thomas, additional, Swick, Herbert M., additional, Swisher, Charles N., additional, Takahashi, Takao, additional, Tein, Ingrid, additional, Tochen, Laura, additional, Thomas, Eva E., additional, Thompson, Alan, additional, Toor, Svinder S., additional, Tyler, H. Richard, additional, Uldall, Peter, additional, Urion, David K., additional, Valappil, Ahsan Moosa Naduvil, additional, Van Toorn, Ronald, additional, Vermilion, Jennifer, additional, Vidaver, Doris, additional, Vohr, Betty R., additional, Vollmer, Brigitte, additional, Volpe, Joseph J., additional, Waber, Deborah P., additional, Wainwright, Mark S., additional, Waites, Lucius, additional, Walsh, Christopher, additional, Weindl, Adolf, additional, Whelan, Mary Anne, additional, White, Larry E., additional, Whittemore, Vicky Holets, additional, Wilmshurst, Jo, additional, Wirrell, Elaine, additional, Wolf, Nicole I., additional, Youssef, Paul, additional, Zempel, John, additional, Zoghbi, Huda Y., additional, Zuberi, Sameer M., additional, and Zupanc, Mary, additional

Published
2021
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6. Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta

Author

Caron, Véronique, primary, Chassaing, Nicolas, additional, Ragge, Nicola, additional, Boschann, Felix, additional, My-Hoa Ngu, Angelina, additional, Meloche, Elisabeth, additional, Chorfi, Sarah, additional, Lakhani, Saquib A., additional, Ji, Weizhen, additional, Steiner, Laurie, additional, Marcadier, Julien, additional, Jansen, Philip R., additional, van de Pol, Laura A., additional, van Hagen, Johanna M., additional, Russi, Alvaro Serrano, additional, Le Guyader, Gwenaël, additional, Nordenskjöld, Magnus, additional, Nordgren, Ann, additional, Anderlid, Britt-Marie, additional, Plaisancié, Julie, additional, Stoltenburg, Corinna, additional, Horn, Denise, additional, Drenckhahn, Anne, additional, Hamdan, Fadi F., additional, Lefebvre, Mathilde, additional, Attie-Bitach, Tania, additional, Forey, Peggy, additional, Smirnov, Vasily, additional, Ernould, Françoise, additional, Jacquemont, Marie-Line, additional, Grotto, Sarah, additional, Alcantud, Alberto, additional, Coret, Alicia, additional, Ferrer-Avargues, Rosario, additional, Srivastava, Siddharth, additional, Vincent-Delorme, Catherine, additional, Romoser, Shelby, additional, Safina, Nicole, additional, Saade, Dimah, additional, Lupski, James R., additional, Calame, Daniel G., additional, Geneviève, David, additional, Chatron, Nicolas, additional, Schluth-Bolard, Caroline, additional, Myers, Kenneth A., additional, Dobyns, William B., additional, Calvas, Patrick, additional, Salmon, Caroline, additional, Holt, Richard, additional, Elmslie, Frances, additional, Allaire, Marc, additional, Prigozhin, Daniil M., additional, Tremblay, André, additional, and Michaud, Jacques L., additional

Published
2023
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7. Joubert Syndrome

Author

Hevner, Robert F., primary, Dobyns, William B., additional, and Valente, Enza Maria, additional

Published
2018
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10. TMEM161B modulates radial glial scaffolding in neocortical development

Author

Wang, Lu, primary, Heffner, Caleb, additional, Vong, Keng loi, additional, Barrows, Chelsea, additional, Ha, Yoo-Jin, additional, Lee, Sangmoon, additional, Lara-Gonzalez, Pablo, additional, Jhamb, Ishani, additional, Van Der Meer, Dennis, additional, Loughnan, Robert, additional, Parker, Nadine, additional, Sievert, David, additional, Mittal, Swapnil, additional, Issa, Mahmoud Y., additional, Andreassen, Ole A., additional, Dale, Anders, additional, Dobyns, William B., additional, Zaki, Maha S., additional, Murray, Stephen A., additional, and Gleeson, Joseph G., additional

Published
2023
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11. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

Author

Khalaf-Nazzal, Reham, primary, Fasham, James, additional, Inskeep, Katherine A., additional, Blizzard, Lauren E., additional, Leslie, Joseph S., additional, Wakeling, Matthew N., additional, Ubeyratna, Nishanka, additional, Mitani, Tadahiro, additional, Griffith, Jennifer L., additional, Baker, Wisam, additional, Al-Hijawi, Fida’, additional, Keough, Karen C., additional, Gezdirici, Alper, additional, Pena, Loren, additional, Spaeth, Christine G., additional, Turnpenny, Peter D., additional, Walsh, Joseph R., additional, Ray, Randall, additional, Neilson, Amber, additional, Kouranova, Evguenia, additional, Cui, Xiaoxia, additional, Curiel, David T., additional, Pehlivan, Davut, additional, Akdemir, Zeynep Coban, additional, Posey, Jennifer E., additional, Lupski, James R., additional, Dobyns, William B., additional, Stottmann, Rolf W., additional, Crosby, Andrew H., additional, and Baple, Emma L., additional

Published
2022
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12. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Author

Holtz, Alexander M., primary, VanCoillie, Rachel, additional, Vansickle, Elizabeth A., additional, Carere, Deanna Alexis, additional, Withrow, Kara, additional, Torti, Erin, additional, Juusola, Jane, additional, Millan, Francisca, additional, Person, Richard, additional, Guillen Sacoto, Maria J., additional, Si, Yue, additional, Wentzensen, Ingrid M., additional, Pugh, Jada, additional, Vasileiou, Georgia, additional, Rieger, Melissa, additional, Reis, André, additional, Argilli, Emanuela, additional, Sherr, Elliott H., additional, Aldinger, Kimberly A., additional, Dobyns, William B., additional, Brunet, Theresa, additional, Hoefele, Julia, additional, Wagner, Matias, additional, Haber, Benjamin, additional, Kotzaeridou, Urania, additional, Keren, Boris, additional, Heron, Delphine, additional, Mignot, Cyril, additional, Heide, Solveig, additional, Courtin, Thomas, additional, Buratti, Julien, additional, Murugasen, Serini, additional, Donald, Kirsten A., additional, O’Heir, Emily, additional, Moody, Shade, additional, Kim, Katherine H., additional, Burton, Barbara K., additional, Yoon, Grace, additional, Campo, Miguel del, additional, Masser-Frye, Diane, additional, Kozenko, Mariya, additional, Parkinson, Christina, additional, Sell, Susan L., additional, Gordon, Patricia L., additional, Prokop, Jeremy W., additional, Karaa, Amel, additional, Bupp, Caleb, additional, and Raby, Benjamin A., additional

Published
2022
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14. Contributors

Author

Aaen, Gregory S., primary, Abend, Nicholas Scott, additional, Abou-Hamden, Amal, additional, Allen, Jeffrey C., additional, Amato, Anthony A., additional, Amlie-Lefond, Catherine, additional, Ashwal, Stephen, additional, Bailey, Russell C., additional, Bale, James F., additional, Banwell, Brenda, additional, Barañano, Kristin W., additional, Barkovich, A. James, additional, Barohn, Richard J., additional, Bartels, Ute K., additional, Bartnik-Olson, Brenda, additional, Barzilai, Ori, additional, Bassuk, Alexander, additional, Bearden, David R., additional, Ben-Sira, Liat, additional, Bernard, Timothy J., additional, Berry-Kravis, Elizabeth, additional, Beslow, Lauren A., additional, Biegel, Jaclyn A., additional, Billinghurst, Lori, additional, Birnbaum, Angela K., additional, Blackburn, Joanna S., additional, Bobowski, Nuala, additional, Boire, Adrienne, additional, Bönnemann, Carsten G., additional, Bonifacio, Sonia L., additional, Bonthius, Daniel J., additional, Borcherding, Breck, additional, Branchford, Brian R., additional, Brandsema, John, additional, Brennan, Kathryn M., additional, Brenton, J. Nicholas, additional, Brooks-Kayal, Amy R., additional, Brown, Lawrence W., additional, Buchalter, Jeffrey, additional, Camfield, Carol S., additional, Camfield, Peter R., additional, Campoy, Cristina, additional, Carpenter, Jessica L., additional, Chang, Taeun, additional, Chau, Vann, additional, Chi, Susan N., additional, Chiriboga, Claudia A., additional, Cho, Yoon-Jae, additional, Christian, Cindy W., additional, Chrestian, Nicholas, additional, Cilio, Maria Roberta, additional, Clark, Robin D., additional, Cohen, Bruce H., additional, Cohn, Ronald D., additional, Connolly, Anne M., additional, Constable, Todd, additional, Constantini, Shlomi, additional, Conway, Jeannine M., additional, Coulter, David L., additional, Cowan, Tina M., additional, Dale, Russell C., additional, Darbro, Benjamin, additional, Darras, Basil T., additional, Dastgir, Jahannaz, additional, De Meirleir, Linda, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, Deisch, Jeremy K., additional, Deltenre, Paul, additional, Desai, Jay, additional, Descartes, Maria, additional, deVeber, Gabrielle, additional, Dhamne, Sameer C., additional, Diaz, Jullianne, additional, DiMauro, Salvatore, additional, Dobyns, William B., additional, Doherty, Dan, additional, Donner, Elizabeth J., additional, Dosenbach, Nico U.F., additional, Dowling, James J., additional, Drake, James M., additional, Ejerskov, Cecile, additional, Engel, Andrew G., additional, Enns, Gregory M., additional, Escolano-Margarit, María Victoria, additional, Etzion, Iris, additional, Fatemi, S. Ali, additional, Fehlings, Darcy L., additional, Feinberg, Michelle Lauren, additional, Ferriero, Donna M., additional, Filipek, Pauline A., additional, Finkel, Richard S., additional, Fisher, Paul G., additional, Flanigan, Kevin, additional, Foreman, Nicholas K., additional, Franco, Israel, additional, Frank, Yitzchak, additional, Fredrick, Douglas R., additional, Freeze, Hudson H., additional, Fuente-Mora, Cristina, additional, Furman, Joseph M., additional, Gallagher, Renata C., additional, Garel, Catherine, additional, Gertsch, Emily, additional, Gilbert, Donald L., additional, Gilles, Elizabeth E., additional, Giza, Christopher C., additional, Glaser, Carol A., additional, Glass, Hannah C., additional, Glauser, Tracy, additional, Glykys, Joseph, additional, Goldstein, Amy, additional, Gonorazky, Hernan Dario, additional, Gonzalez, Rodolfo, additional, Goodkin, Howard P., additional, Graham, John M., additional, Greninger, Alexander L., additional, Gronseth, Gary, additional, Gropman, Andrea L., additional, Grundy, Richard, additional, Guerrini, Renzo, additional, Gupta, Nalin, additional, Hahn, Jin S., additional, Hamblin, Milton H., additional, Hani, Abeer J., additional, Hanmantgad, Sharyu, additional, Harbert, Mary J., additional, Harini, Chellamani, additional, Harriott, Andrea M., additional, Heatwole, Chad, additional, Hershey, Andrew D., additional, Hirtz, Deborah G., additional, Holmes, Gregory L., additional, Holshouser, Barbara A., additional, Hurwitz, Kathleen A., additional, Hwang, Eugene, additional, Ichord, Rebecca N., additional, Jafar-Nejad, Paymaan, additional, Jain, Sejal V., additional, Jordan, Lori, additional, Kabbouche, Marielle A., additional, Kacperski, Joanne, additional, Kang, Peter B., additional, Kariannis, Matthias A., additional, Kaufmann, Horacio, additional, Kaye, Harper L., additional, Keating, Robert, additional, Kennedy, Colin R., additional, Khakoo, Yasmin, additional, Kirton, Adam, additional, Kissel, John T., additional, Knupp, Kelly G., additional, Korf, Bruce R., additional, Kossoff, Eric H., additional, Kothare, Sanjeev V., additional, Kupfer, Oren, additional, LaFrance, W. Curt, additional, Latal, Beatrice, additional, Leber, Steven M., additional, Lee, Jean-Pyo, additional, Leppik, Ilo E., additional, Lerman-Sagie, Tally, additional, Lerner, Jason T., additional, Leventer, Richard J., additional, Licht, Daniel J., additional, Lichter-Konecki, Uta, additional, Lidar, Zvi, additional, Liem, Djin Gie, additional, Loddenkemper, Tobias, additional, Long, Roger K., additional, Luc, Quyen N., additional, Mackay, Mark, additional, Majnemer, Annette, additional, Makhani, Naila, additional, Malinger, Gustavo, additional, Mandelbaum, David E., additional, Maricich, Stephen M., additional, Maski, Kiran P., additional, Mathur, Mudit, additional, Matthews, Dennis J., additional, McMahon, Kelly, additional, DeMara-Hoth, Megan B., additional, Mendelsohn, Bryce, additional, Mennella, Julie A., additional, Ment, Laura R., additional, Mercuri, Eugenio, additional, Michelson, David J., additional, Mikati, Mohamad A., additional, Mikhail, Fady M., additional, Miller, Steven Paul, additional, Milunsky, Jeff M., additional, Mink, Jonathan W., additional, Mirzaa, Ghayda M., additional, Mitchell, Wendy G., additional, Mohan, Michael A., additional, Mohassel, Payam, additional, Moharir, Mahendranath, additional, Monani, Umrao R., additional, Monje Deisseroth, Michelle, additional, Moodley, Manikum, additional, Mower, Andrew, additional, Moxley, Richard T., additional, Mueller, Sabine, additional, Muotri, Alysson R., additional, Nagamani, Sandesh C.S., additional, Narayanan, Mohan J., additional, Narayanan, Vinodh, additional, Nass, Ruth D., additional, Neul, Jeffrey L., additional, Nevo, Yoram, additional, Ng, Bobby G., additional, Nickels, Katherine C., additional, Nimmo, Graeme A.M., additional, Noetzel, Michael J., additional, Norcliffe-Kaufmann, Lucy, additional, Nordli, Douglas R., additional, Nowak-Göttl, Ulrike, additional, O'Brien, Hope L., additional, Oleszek, Joyce, additional, Oskoui, Maryam, additional, Paciorkowski, Alex R., additional, Packer, Roger J., additional, Packman, Seymour, additional, Palma, Jose-Alberto, additional, Pardo, Andrea C., additional, Parsons, Julie A., additional, Partridge, John Colin, additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearce, William J., additional, Pearl, Phillip L., additional, Penner, Melanie, additional, Percival, Leila, additional, Pereira, Marcia, additional, Pfister, Stefan M., additional, Phillips, John, additional, Plecko, Barbara, additional, Plioplys, Sigita, additional, Poduri, Annapurna, additional, Poisson, Sharon, additional, Pomeroy, Scott L., additional, Poretti, Andrea, additional, Powers, Scott W., additional, Pranzatelli, Michael R., additional, Przekop, Allison, additional, Rabie, Malcolm, additional, Rangasamy, Sampathkumar, additional, Raymond, Gerald V., additional, Reddy, Alyssa T., additional, Rendleman, Rebecca L., additional, Rho, Jong M., additional, Rodan, Lance H., additional, Roddy, Sarah M., additional, Rogers, Elizabeth E., additional, Rosenthal, Stephen M., additional, Rosman, N. Paul, additional, Ross, M. Elizabeth, additional, Rotenberg, Alexander, additional, Rust, Robert S., additional, Sanchez, Cheryl P., additional, Sanchez, Pedro, additional, Sánchez Fernández, Iván, additional, Sands, Tristan T., additional, Sanger, Terence D., additional, Sannagowdara, Kumar, additional, Scheinost, Dustin, additional, Scher, Mark S., additional, Schor, Nina F., additional, Schrauwen, Isabelle, additional, Segal, Michael M., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Seltzer, Laurie E., additional, Semrud-Clikeman, Margaret, additional, Shaw, Dennis W., additional, Shaywitz, Bennett A., additional, Shaywitz, Sally E., additional, Shellhaas, Renée A., additional, Sherr, Elliott H., additional, Sheth, Rita D., additional, Shevell, Michael I., additional, Shinnar, Shlomo, additional, Shofty, Ben, additional, Shu, Stanford K., additional, Shy, Michael E., additional, Silveira Moriyama, Laura, additional, Silvestri, Nicholas J., additional, Sims, Katherine B., additional, Singer, Harvey S., additional, Singhal, Nilika Shah, additional, Smith, Craig M., additional, Smith, Edward, additional, Smith, Stephen A., additional, Snyder, Evan Y., additional, Soul, Janet, additional, Spalink, Christy L., additional, Spencer, Karen A., additional, Stafstrom, Carl E., additional, Steinfeld, Robert, additional, Strober, Jonathan B., additional, Sullivan, Joseph, additional, Swaiman, Kenneth F., additional, Swoboda, Kathryn J., additional, Tate, Elizabeth D., additional, Tatum, William O., additional, Tein, Ingrid, additional, Tekulve, Kristyn, additional, Tenney, Jeffrey R., additional, Thiele, Elizabeth A., additional, Thompson-Stone, Robert, additional, Tochen, Laura, additional, Tormoehlen, Laura M., additional, Tran, Lily, additional, Trauner, Doris A., additional, Turnacioglu, Sinan O., additional, Ullrich, Nicole J., additional, Urion, David K., additional, Van Camp, Guy, additional, Van Hirtum-Das, Michèle, additional, van Karnebeek, Clara D.M., additional, Van Maldergem, Lionel, additional, Vanderver, Adeline, additional, Vitanza, Nicholas A., additional, von Rhein, Michael, additional, von Scheven, Emily, additional, Wagner, Ann, additional, Wainwright, Mark S., additional, Walker, Melissa A., additional, Walkup, John T., additional, Walsh, Laurence, additional, Walters-Sen, Lauren C., additional, Wang, Raymond Y., additional, Warner, Thomas T., additional, Whelan, Harry T., additional, Weinberg, Geoffrey A., additional, Wells, Elizabeth M., additional, Wheless, James W., additional, Wirrell, Elaine C., additional, Wisoff, Jeffrey H., additional, Wolf, Nicole I., additional, Wolfe, Gil I., additional, Wright, F. Virginia, additional, Wycliffe, Nathaniel D., additional, Yang, Michele L., additional, Yuskaitis, Christopher J., additional, Zoghbi, Huda Y., additional, and Zupanc, Mary L., additional

Published
2017
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16. Neurogenetics in the Genome Era

Author

McMahon, Kelly, primary, Paciorkowski, Alex R., additional, Walters-Sen, Lauren C., additional, Milunsky, Jeff M., additional, Bassuk, Alexander, additional, Darbro, Benjamin, additional, Diaz, Jullianne, additional, Dobyns, William B., additional, and Gropman, Andrea, additional

Published
2017
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18. Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability

Author

Wei, Aguan D., primary, Wakenight, Paul, additional, Zwingman, Theresa A., additional, Bard, Angela M., additional, Sahai, Nikhil, additional, Willemsen, Marjolein H., additional, Schelhaas, Helenius J., additional, Stegmann, Alexander P. A., additional, Verhoeven, Judith S., additional, de Man, Stella A., additional, Wessels, Marja W., additional, Kleefstra, Tjitske, additional, Shinde, Deepali N., additional, Helbig, Katherine L., additional, Basinger, Alice, additional, Wagner, Victoria F., additional, Rodriguez-Buritica, David, additional, Bryant, Emily, additional, Millichap, John J., additional, Millen, Kathleen J., additional, Dobyns, William B., additional, Ramirez, Jan-Marino, additional, and Kalume, Franck K., additional

Published
2022
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19. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders

Author

Di Donato, Nataliya, primary, Guerrini, Renzo, additional, Billington, Charles J, additional, Barkovich, A James, additional, Dinkel, Philine, additional, Freri, Elena, additional, Heide, Michael, additional, Gershon, Elliot S, additional, Gertler, Tracy S, additional, Hopkin, Robert J, additional, Jacob, Suma, additional, Keedy, Sarah K, additional, Kooshavar, Daniz, additional, Lockhart, Paul J, additional, Lohmann, Dietmar R, additional, Mahmoud, Iman G, additional, Parrini, Elena, additional, Schrock, Evelin, additional, Severi, Giulia, additional, Timms, Andrew E, additional, Webster, Richard I, additional, Willis, Mary J H, additional, Zaki, Maha S, additional, Gleeson, Joseph G, additional, Leventer, Richard J, additional, and Dobyns, William B, additional

Published
2022
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20. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

Author

Pirozzi, Filomena, primary, Berkseth, Matthew, additional, Shear, Rylee, additional, Gonzalez, Lorenzo, additional, Timms, Andrew E, additional, Sulc, Josef, additional, Pao, Emily, additional, Oyama, Nora, additional, Forzano, Francesca, additional, Conti, Valerio, additional, Guerrini, Renzo, additional, Doherty, Emily S, additional, Saitta, Sulagna C, additional, Lockwood, Christina M, additional, Pritchard, Colin C, additional, Dobyns, William B, additional, Novotny, Edward, additional, Wright, Jason N N, additional, Saneto, Russell P, additional, Friedman, Seth, additional, Hauptman, Jason, additional, Ojemann, Jeffrey, additional, Kapur, Raj P, additional, and Mirzaa, Ghayda M, additional

Published
2022
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21. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Author

Schalk, Audrey, primary, Cousin, Margot A, additional, Dsouza, Nikita R, additional, Challman, Thomas D, additional, Wain, Karen E, additional, Powis, Zoe, additional, Minks, Kelly, additional, Trimouille, Aurélien, additional, Lasseaux, Eulalie, additional, Lacombe, Didier, additional, Angelini, Chloé, additional, Michaud, Vincent, additional, Van-Gils, Julien, additional, Spataro, Nino, additional, Ruiz, Anna, additional, Gabau, Elizabeth, additional, Stolerman, Elliot, additional, Washington, Camerun, additional, Louie, Ray, additional, Lanpher, Brendan C, additional, Kemppainen, Jennifer L, additional, Innes, Micheil, additional, Kooy, Frank, additional, Meuwissen, Marije, additional, Goldenberg, Alice, additional, Lecoquierre, Francois, additional, Vera, Gabriella, additional, Diderich, Karin E M, additional, Sheidley, Beth, additional, El Achkar, Christelle Moufawad, additional, Park, Meredith, additional, Hamdan, Fadi F, additional, Michaud, Jacques L, additional, Lewis, Ann J, additional, Zweier, Christiane, additional, Reis, André, additional, Wagner, Matias, additional, Weigand, Heike, additional, Journel, Hubert, additional, Keren, Boris, additional, Passemard, Sandrine, additional, Mignot, Cyril, additional, van Gassen, Koen, additional, Brilstra, Eva H, additional, Itzikowitz, Gina, additional, O'Heir, Emily, additional, Allen, Jake, additional, Donald, Kirsten A, additional, Korf, Bruce Richard, additional, Skelton, Tammi, additional, Thompson, Michelle, additional, Robin, Nathaniel H, additional, Rudy, Natasha L, additional, Dobyns, William B, additional, Foss, Kimberly, additional, Zarate, Yuri Alexander, additional, Bosanko, Katherine A, additional, Alembik, Yves, additional, Durand, Benjamin, additional, Tran Mau-them, Frederic, additional, Ranza, Emmanuelle, additional, Blanc, Xavier, additional, Antonarakis, Stylianos E, additional, McWalter, Kirsty, additional, Torti, Erin, additional, Millan, Francisca, additional, Dameron, Amy, additional, Tokita, Mari, additional, Zimmermann, Michael T, additional, Klee, Eric W, additional, Piton, Amelie, additional, and Gerard, Benedicte, additional

Published
2021
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23. Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist

Author

Mancini, Grazia M.S., primary, Smits, Daphne J., additional, Dekker, Jordy, additional, Schot, Rachel, additional, de Wit, Marie Claire Y., additional, Lequin, Maarten H., additional, Dremmen, Marjolein, additional, Brooks, Alice S., additional, van Ham, Tjakko, additional, Verheijen, Frans W., additional, Fornerod, Maarten, additional, Dobyns, William B., additional, and Wilke, Martina, additional

Published
2021
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24. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

Author

Liu, Sanxiong, primary, Aldinger, Kimberly A., additional, Cheng, Chi Vicky, additional, Kiyama, Takae, additional, Dave, Mitali, additional, McNamara, Hanna K., additional, Zhao, Wukui, additional, Stafford, James M., additional, Descostes, Nicolas, additional, Lee, Pedro, additional, Caraffi, Stefano G., additional, Ivanovski, Ivan, additional, Errichiello, Edoardo, additional, Zweier, Christiane, additional, Zuffardi, Orsetta, additional, Schneider, Michael, additional, Papavasiliou, Antigone S., additional, Perry, M. Scott, additional, Humberson, Jennifer, additional, Cho, Megan T., additional, Weber, Astrid, additional, Swale, Andrew, additional, Badea, Tudor C., additional, Mao, Chai-An, additional, Garavelli, Livia, additional, Dobyns, William B., additional, and Reinberg, Danny, additional

Published
2021
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25. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

Author

Liu, Sanxiong, primary, Aldinger, Kimberly A., additional, Cheng, Chi Vicky, additional, Kiyama, Takae, additional, Dave, Mitali, additional, McNamara, Hanna K., additional, Zhao, Wukui, additional, Stafford, James M., additional, Descostes, Nicolas, additional, Lee, Pedro, additional, Caraffi, Stefano G., additional, Ivanovski, Ivan, additional, Errichiello, Edoardo, additional, Zweier, Christiane, additional, Zuffardi, Orsetta, additional, Schneider, Michael, additional, Papavasiliou, Antigone S., additional, Perry, M. Scott, additional, Humberson, Jennifer, additional, Cho, Megan T., additional, Weber, Astrid, additional, Swale, Andrew, additional, Badea, Tudor C., additional, Mao, Chai-An, additional, Garavelli, Livia, additional, Dobyns, William B., additional, and Reinberg, Danny, additional

Published
2021
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26. Response to Hamosh et al.

Author

Biesecker, Leslie G., primary, Adam, Margaret P., additional, Alkuraya, Fowzan S., additional, Amemiya, Anne R., additional, Bamshad, Michael J., additional, Beck, Anita E., additional, Bennett, James T., additional, Bird, Lynne M., additional, Carey, John C., additional, Chung, Brian, additional, Clark, Robin D., additional, Cox, Timothy C., additional, Curry, Cynthia, additional, Dinulos, Mary Beth Palko, additional, Dobyns, William B., additional, Giampietro, Philip F., additional, Girisha, Katta M., additional, Glass, Ian A., additional, Graham, John M., additional, Gripp, Karen W., additional, Haldeman-Englert, Chad R., additional, Hall, Bryan D., additional, Innes, A. Micheil, additional, Kalish, Jennifer M., additional, Keppler-Noreuil, Kim M., additional, Kosaki, Kenjiro, additional, Kozel, Beth A., additional, Mirzaa, Ghayda M., additional, Mulvihill, John J., additional, Nowaczyk, Malgorzata J.M., additional, Pagon, Roberta A., additional, Retterer, Kyle, additional, Rope, Alan F., additional, Sanchez-Lara, Pedro A., additional, Seaver, Laurie H., additional, Shieh, Joseph T., additional, Slavotinek, Anne M., additional, Sobering, Andrew K., additional, Stevens, Cathy A., additional, Stevenson, David A., additional, Tan, Tiong Yang, additional, Tan, Wen-Hann, additional, Tsai, Anne C., additional, Weaver, David D., additional, Williams, Marc S., additional, Zackai, Elaine, additional, and Zarate, Yuri A., additional

Published
2021
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28. Expanding theKIF4A‐associated phenotype

Author

Kalantari, Silvia, primary, Carlston, Colleen, additional, Alsaleh, Norah, additional, Abdel‐Salam, Ghada M. H., additional, Alkuraya, Fowzan, additional, Kato, Mitsuhiro, additional, Matsumoto, Naomichi, additional, Miyatake, Satoko, additional, Yamamoto, Tatsuya, additional, Fares‐Taie, Lucas, additional, Rozet, Jean‐Michel, additional, Chassaing, Nicolas, additional, Vincent‐Delorme, Catherine, additional, Kang‐Bellin, Anjeung, additional, McWalter, Kirsty, additional, Bupp, Caleb, additional, Palen, Emily, additional, Wagner, Monisa D., additional, Niceta, Marcello, additional, Cesario, Claudia, additional, Milone, Roberta, additional, Kaplan, Julie, additional, Wadman, Erin, additional, Dobyns, William B., additional, and Filges, Isabel, additional

Published
2021
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29. Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights

Author

Pirozzi, Filomena, primary, Berkseth, Matthew, additional, Shear, Rylee, additional, Gonzalez, Lorenzo, additional, Timms, Andrew E., additional, Sulc, Josef, additional, Pao, Emily, additional, Oyama, Nora, additional, Forzano, Francesca, additional, Conti, Valerio, additional, Guerrini, Renzo, additional, Doherty, Emily S., additional, Saitta, Sulagna C., additional, Dobyns, William B., additional, Novotny, Edward, additional, Wright, Jason N.N., additional, Saneto, Russell P., additional, Friedman, Seth, additional, Hauptman, Jason, additional, Ojemann, Jeffrey, additional, Kapur, Raj P., additional, and Mirzaa, Ghayda M., additional

Published
2021
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30. Spatial and cell type transcriptional landscape of human cerebellar development

Author

Aldinger, Kimberly A., primary, Thomson, Zachary, additional, Phelps, Ian G., additional, Haldipur, Parthiv, additional, Deng, Mei, additional, Timms, Andrew E., additional, Hirano, Matthew, additional, Santpere, Gabriel, additional, Roco, Charles, additional, Rosenberg, Alexander B., additional, Lorente-Galdos, Belen, additional, Gulden, Forrest O., additional, O’Day, Diana, additional, Overman, Lynne M., additional, Lisgo, Steven N., additional, Alexandre, Paula, additional, Sestan, Nenad, additional, Doherty, Dan, additional, Dobyns, William B., additional, Seelig, Georg, additional, Glass, Ian A., additional, and Millen, Kathleen J., additional

Published
2021
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31. Proximal variants inCCND2associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

Author

Pirozzi, Filomena, primary, Lee, Benson, additional, Horsley, Nicole, additional, Burkardt, Deepika D., additional, Dobyns, William B., additional, Graham, John M., additional, Dentici, Maria L., additional, Cesario, Claudia, additional, Schallner, Jens, additional, Porrmann, Joseph, additional, Di Donato, Nataliya, additional, Sanchez‐Lara, Pedro A., additional, and Mirzaa, Ghayda M., additional

Published
2021
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32. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Author

Harris, Holly K., primary, Nakayama, Tojo, additional, Lai, Jenny, additional, Zhao, Boxun, additional, Argyrou, Nikoleta, additional, Gubbels, Cynthia S., additional, Soucy, Aubrie, additional, Genetti, Casie A., additional, Suslovitch, Victoria, additional, Rodan, Lance H., additional, Tiller, George E., additional, Lesca, Gaetan, additional, Gripp, Karen W., additional, Asadollahi, Reza, additional, Hamosh, Ada, additional, Applegate, Carolyn D., additional, Turnpenny, Peter D., additional, Simon, Marleen E.H., additional, Volker-Touw, Catharina M.L., additional, Gassen, Koen L.I. van, additional, Binsbergen, Ellen van, additional, Pfundt, Rolph, additional, Gardeitchik, Thatjana, additional, Vries, Bert B.A. de, additional, Immken, LaDonna L., additional, Buchanan, Catherine, additional, Willing, Marcia, additional, Toler, Tomi L., additional, Fassi, Emily, additional, Baker, Laura, additional, Vansenne, Fleur, additional, Wang, Xiadong, additional, Ambrus, Julian L., additional, Fannemel, Madeleine, additional, Posey, Jennifer E., additional, Agolini, Emanuele, additional, Novelli, Antonio, additional, Rauch, Anita, additional, Boonsawat, Paranchai, additional, Fagerberg, Christina R., additional, Larsen, Martin J., additional, Kibaek, Maria, additional, Labalme, Audrey, additional, Poisson, Alice, additional, Payne, Katelyn K., additional, Walsh, Laurence E., additional, Aldinger, Kimberly A., additional, Balciuniene, Jorune, additional, Skraban, Cara, additional, Gray, Christopher, additional, Murrell, Jill, additional, Bupp, Caleb P., additional, Pascolini, Giulia, additional, Grammatico, Paola, additional, Broly, Martin, additional, Küry, Sébastien, additional, Nizon, Mathilde, additional, Rasool, Iqra Ghulam, additional, Zahoor, Muhammad Yasir, additional, Kraus, Cornelia, additional, Reis, André, additional, Iqbal, Muhammad, additional, Uguen, Kevin, additional, Audebert-Bellanger, Severine, additional, Ferec, Claude, additional, Redon, Sylvia, additional, Baker, Janice, additional, Wu, Yunhong, additional, Zampino, Guiseppe, additional, Syrbe, Steffan, additional, Brosse, Ines, additional, Jamra, Rami Abou, additional, Dobyns, William B., additional, Cohen, Lilian L., additional, Blomhoff, Anne, additional, Mignot, Cyril, additional, Keren, Boris, additional, Courtin, Thomas, additional, Agrawal, Pankaj B., additional, Beggs, Alan H., additional, and Yu, Timothy W., additional

Published
2021
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33. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Author

Muir, Alison M., primary, Gardner, Jennifer F., additional, van Jaarsveld, Richard H., additional, de Lange, Iris M., additional, van der Smagt, Jasper J., additional, Wilson, Golder N., additional, Dubbs, Holly, additional, Goldberg, Ethan M., additional, Zitano, Lia, additional, Bupp, Caleb, additional, Martinez, Jose, additional, Srour, Myriam, additional, Accogli, Andrea, additional, Alhakeem, Afnan, additional, Meltzer, Meira, additional, Gropman, Andrea, additional, Brewer, Carole, additional, Caswell, Richard C., additional, Montgomery, Tara, additional, McKenna, Caoimhe, additional, McKee, Shane, additional, Powell, Corinna, additional, Vasudevan, Pradeep C., additional, Brady, Angela F., additional, Joss, Shelagh, additional, Tysoe, Carolyn, additional, Noh, Grace, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Zafar, Muhammad, additional, Schrier Vergano, Samantha A., additional, Murray, Brianna, additional, Sawyer, Lindsey, additional, Hainline, Bryan E., additional, Sapp, Katherine, additional, DeMarzo, Danielle, additional, Huismann, Darcy J., additional, Wentzensen, Ingrid M., additional, Schnur, Rhonda E., additional, Monaghan, Kristin G., additional, Juusola, Jane, additional, Rhodes, Lindsay, additional, Dobyns, William B., additional, Lecoquierre, Francois, additional, Goldenberg, Alice, additional, Polster, Tilman, additional, Axer-Schaefer, Susanne, additional, Platzer, Konrad, additional, Klöckner, Chiara, additional, Hoffman, Trevor L., additional, MacArthur, Daniel G., additional, O’Leary, Melanie C., additional, VanNoy, Grace E., additional, England, Eleina, additional, Varghese, Vinod C., additional, and Mefford, Heather C., additional

Published
2021
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34. DLG4-related synaptopathy: a new rare brain disorder

Author

Rodríguez-Palmero, Agustí, primary, Boerrigter, Melissa Maria, additional, Gómez-Andrés, David, additional, Aldinger, Kimberly A., additional, Marcos-Alcalde, Íñigo, additional, Popp, Bernt, additional, Everman, David B., additional, Lovgren, Alysia Kern, additional, Arpin, Stephanie, additional, Bahrambeigi, Vahid, additional, Beunders, Gea, additional, Bisgaard, Anne-Marie, additional, Bjerregaard, V.A., additional, Bruel, Ange-Line, additional, Challman, Thomas D., additional, Cogné, Benjamin, additional, Coubes, Christine, additional, de Man, Stella A., additional, Denommé-Pichon, Anne-Sophie, additional, Dye, Thomas J., additional, Elmslie, Frances, additional, Feuk, Lars, additional, García-Miñaúr, Sixto, additional, Gertler, Tracy, additional, Giorgio, Elisa, additional, Gruchy, Nicolas, additional, Haack, Tobias B., additional, Haldeman-Englert, Chad R., additional, Haukanes, Bjørn Ivar, additional, Hoyer, Juliane, additional, Hurst, Anna C.E., additional, Isidor, Bertrand, additional, Soller, Maria Johansson, additional, Kushary, Sulagna, additional, Kvarnung, Malin, additional, Landau, Yuval E., additional, Leppig, Kathleen A., additional, Lindstrand, Anna, additional, Kleinendorst, Lotte, additional, MacKenzie, Alex, additional, Mandrile, Giorgia, additional, Mendelsohn, Bryce A., additional, Moghadasi, Setareh, additional, Morton, Jenny E., additional, Moutton, Sebastien, additional, Müller, Amelie J., additional, O’Leary, Melanie, additional, Pacio-Míguez, Marta, additional, Palomares-Bralo, Maria, additional, Parikh, Sumit, additional, Pfundt, Rolph, additional, Pode-Shakked, Ben, additional, Rauch, Anita, additional, Repnikova, Elena, additional, Revah-Politi, Anya, additional, Ross, Meredith J., additional, Ruivenkamp, Claudia A.L., additional, Sarrazin, Elisabeth, additional, Savatt, Juliann M., additional, Schlüter, Agatha, additional, Schönewolf-Greulich, Bitten, additional, Shad, Zohra, additional, Shaw-Smith, Charles, additional, Shieh, Joseph T., additional, Shohat, Motti, additional, Spranger, Stephanie, additional, Thiese, Heidi, additional, Mau-Them, Frederic Tran, additional, van Bon, Bregje, additional, van de Burgt, Ineke, additional, van de Laar, Ingrid M.B.H., additional, van Drie, Esmée, additional, van Haelst, Mieke M., additional, van Ravenswaaij-Arts, Conny M., additional, Verdura, Edgard, additional, Vitobello, Antonio, additional, Waldmüller, Stephan, additional, Whiting, Sharon, additional, Zweier, Christiane, additional, Prada, Carlos E., additional, de Vries, Bert B.A., additional, Dobyns, William B., additional, Reiter, Simone F., additional, Gómez-Puertas, Paulino, additional, Pujol, Aurora, additional, and Tümer, Zeynep, additional

Published
2021
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35. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Author

Jeanne, Médéric, primary, Demory, Hélène, additional, Moutal, Aubin, additional, Vuillaume, Marie-Laure, additional, Blesson, Sophie, additional, Thépault, Rose-Anne, additional, Marouillat, Sylviane, additional, Halewa, Judith, additional, Maas, Saskia M., additional, Motazacker, M. Mahdi, additional, Mancini, Grazia M.S., additional, van Slegtenhorst, Marjon A., additional, Andreou, Avgi, additional, Cox, Helene, additional, Vogt, Julie, additional, Laufman, Jason, additional, Kostandyan, Natella, additional, Babikyan, Davit, additional, Hancarova, Miroslava, additional, Bendova, Sarka, additional, Sedlacek, Zdenek, additional, Aldinger, Kimberly A., additional, Sherr, Elliott H., additional, Argilli, Emanuela, additional, England, Eleina M., additional, Audebert-Bellanger, Séverine, additional, Bonneau, Dominique, additional, Colin, Estelle, additional, Denommé-Pichon, Anne-Sophie, additional, Gilbert-Dussardier, Brigitte, additional, Isidor, Bertrand, additional, Küry, Sébastien, additional, Odent, Sylvie, additional, Redon, Richard, additional, Khanna, Rajesh, additional, Dobyns, William B., additional, Bézieau, Stéphane, additional, Honnorat, Jérôme, additional, Lohkamp, Bernhard, additional, Toutain, Annick, additional, and Laumonnier, Frédéric, additional

Published
2021
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36. NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain

Author

Liu, Sanxiong, primary, Aldinger, Kimberly A, additional, Cheng, Chi Vicky, additional, Kiyama, Takae, additional, Dave, Mitali, additional, McNamara, Hanna K., additional, Caraffi, Stefano G, additional, Ivanovski, Ivan, additional, Errichiello, Edoardo, additional, Zweier, Christiane, additional, Zuffardi, Orsetta, additional, Schneider, Michael, additional, Papavasiliou, Antigone S., additional, Perry, M. Scott, additional, Cho, Megan T, additional, Weber, Astrid, additional, Swale, Andrew, additional, Badea, Tudor C., additional, Mao, Chai-An, additional, Garavelli, Livia, additional, Dobyns, William B, additional, and Reinberg, Danny, additional

Published
2021
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39. A dyadic approach to the delineation of diagnostic entities in clinical genomics

Author

Biesecker, Leslie G., primary, Adam, Margaret P., additional, Alkuraya, Fowzan S., additional, Amemiya, Anne R., additional, Bamshad, Michael J., additional, Beck, Anita E., additional, Bennett, James T., additional, Bird, Lynne M., additional, Carey, John C., additional, Chung, Brian, additional, Clark, Robin D., additional, Cox, Timothy C., additional, Curry, Cynthia, additional, Dinulos, Mary Beth Palko, additional, Dobyns, William B., additional, Giampietro, Philip F., additional, Girisha, Katta M., additional, Glass, Ian A., additional, Graham, John M., additional, Gripp, Karen W., additional, Haldeman-Englert, Chad R., additional, Hall, Bryan D., additional, Innes, A. Micheil, additional, Kalish, Jennifer M., additional, Keppler-Noreuil, Kim M., additional, Kosaki, Kenjiro, additional, Kozel, Beth A., additional, Mirzaa, Ghayda M., additional, Mulvihill, John J., additional, Nowaczyk, Malgorzata J.M., additional, Pagon, Roberta A., additional, Retterer, Kyle, additional, Rope, Alan F., additional, Sanchez-Lara, Pedro A., additional, Seaver, Laurie H., additional, Shieh, Joseph T., additional, Slavotinek, Anne M., additional, Sobering, Andrew K., additional, Stevens, Cathy A., additional, Stevenson, David A., additional, Tan, Tiong Yang, additional, Tan, Wen-Hann, additional, Tsai, Anne C., additional, Weaver, David D., additional, Williams, Marc S., additional, Zackai, Elaine, additional, and Zarate, Yuri A., additional

Published
2021
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44. Contributors

Author

Abou-Hamden, Amal, primary, Amato, Anthony A., additional, Ashwal, Stephen, additional, Axelrod, Felicia B., additional, Bale, James F., additional, Banwell, Brenda, additional, Baranano, Kristin W., additional, Barkovich, A. James, additional, Barohn, Richard J., additional, Batshaw, Mark L., additional, Ben-Sira, Liat, additional, Birnbaum, Angela K., additional, Boustany, Rose-Mary N., additional, Brooks-Kayal, Amy, additional, Brown, Lawrence W., additional, Camfield, Carol S., additional, Camfield, Peter R., additional, Casselbrant, Margaretha L., additional, Chiriboga, Claudia A., additional, Christian, Susan L., additional, Cilio, Maria Roberta, additional, Connolly, Anne M., additional, Conway, Jeannine M., additional, Cornes, Susannah, additional, Coulter, David L., additional, Cowan, Tina M., additional, Das, Soma, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, Desai, Jay, additional, Descartes, Maria, additional, deVeber, Gabrielle, additional, DiMauro, Salvatore, additional, Dobyns, William B., additional, Dong, Qing, additional, Drake, James M., additional, Duhaime, Ann-Christine, additional, du Plessis, Adre J., additional, El-Bitar, Mohamad K., additional, Enns, Gregory M., additional, Escolar, Diana M., additional, Evans, Owen B., additional, Fatemi, S. Ali, additional, Ferriero, Donna M., additional, Filipek, Pauline A., additional, Frank, Yitzchak, additional, Fredrick, Douglas R., additional, Freeze, Hudson H., additional, Friedman, Neil R., additional, Furman, Joseph M., additional, Garg, Bhuwan P., additional, Ghosh, Debabrata, additional, Gilles, Elizabeth E., additional, Giza, Christopher C., additional, Glaser, Carol A., additional, Gleeson, Joseph G., additional, Graham, John M., additional, Gressens, Pierre, additional, Guerrini, Renzo, additional, Gupta, Nalin, additional, Hahn, Jin S., additional, Harini, Chellamani, additional, Heatwole, Chad, additional, Hirtz, Deborah G., additional, Holmes, Gregory L., additional, Holshouser, Barbara A., additional, Ichord, Rebecca N., additional, Jafar-Nejad, Paymaan, additional, Jensen, Frances E., additional, Johnston, Michael V., additional, Jordan, Lori, additional, Khakoo, Yasmin, additional, Khasraw, Mustafa, additional, Kirton, Adam, additional, Kissel, John T., additional, Klein, Ophir, additional, Knupp, Kelly, additional, Korf, Bruce R., additional, Kotagal, Suresh, additional, Leber, Steven, additional, Leppik, Ilo E., additional, Lerman-Sagie, Tally, additional, Lerner, Jason T., additional, Leshner, Robert T., additional, Leventer, Richard J., additional, Lewis, Donald W., additional, Lewis, Paul F., additional, Lichter-Konecki, Uta, additional, Limperopoulos, Catherine, additional, Louie, Janice K., additional, Luc, Quyen N., additional, MacDonald, Tobey J., additional, Makhani, Naila, additional, Malinger, Gustavo, additional, Mandelbaum, David E., additional, Marcuccilli, Charles J., additional, Maricich, Stephen M., additional, Martin, Lee J., additional, Mennella, Julie A., additional, Ment, Laura R., additional, Michelson, David J., additional, Mikhail, Fady M., additional, Millen, Kathleen J., additional, Miller, Steven P., additional, Mink, Jonathan W., additional, Mirzaa, Ghayda, additional, Mitchell, Wendy G., additional, Moodley, Manikum, additional, Morton, Lawrence D., additional, Moxley, Richard T., additional, Muppidi, Srikanth, additional, Nash, Kendall, additional, Nass, Ruth, additional, Noetzel, Michael J., additional, Nordli, Douglas R., additional, Northington, Frances J., additional, Ouvrier, Robert, additional, Packer, Roger J., additional, Packman, Seymour, additional, Parsons, Julie A., additional, Partridge, John C., additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pellock, John M., additional, Perkin, Ronald M., additional, Rapin, Isabelle, additional, Raymond, Gerald V., additional, Rendleman, Rebecca, additional, Rho, Jong M., additional, Roddy, Sarah M., additional, Rosenthal, Stephen M., additional, Rosman, N. Paul, additional, Ross, M. Elizabeth, additional, Rust, Robert S., additional, Sanchez-Lara, Pedro A., additional, Sanger, Terence D., additional, Sanmaneechai, Oranee, additional, Schaad, Urs B., additional, Scher, Mark S., additional, Schor, Nina F., additional, Segal, Michael M., additional, Shaywitz, Bennett A., additional, Shaywitz, Sally E., additional, Sherr, Elliott H., additional, Shevell, Michael I., additional, Shinnar, Shlomo, additional, Shu, Stanford K., additional, Silverstein, Faye S., additional, Singer, Harvey S., additional, Sladky, John T., additional, Smith, Stephen A., additional, Soul, Janet S., additional, Stafstrom, Carl E., additional, Strober, Jonathan B., additional, Sullivan, Joseph, additional, Swaiman, Kenneth F., additional, Sweney, Matthew T., additional, Swoboda, Kathryn J., additional, Täuber, Martin G., additional, Taylor, Donald A., additional, Tein, Ingrid, additional, Thiele, Elizabeth A., additional, Trauner, Doris A., additional, Tuchman, Roberto, additional, Vanderver, Adeline, additional, Hirtum-Das, Michéle Van, additional, Vedanarayanan, V. Venkataraman, additional, Vexler, Zinaida S., additional, Vezina, Gilbert, additional, Scheven, Emily von, additional, Wagner, Ann, additional, Wainwright, Mark S., additional, Walkup, John T., additional, Walsh, Laurence E., additional, Wang, Ching H., additional, Wheless, James W., additional, Wolf, Nicole I., additional, Wolfe, Gil I., additional, Wu, Yvonne W., additional, Wycliffe, Nathaniel D., additional, Yager, Jerome Y., additional, Zimmer, Jennifer A., additional, Zoghbi, Huda Y., additional, and Zupanc, Mary L., additional

Published
2012
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46. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Author

Schalk, Audrey, primary, Cousin, Margot A., additional, Challman, Thomas D., additional, Wain, Karen E., additional, Powis, Zöe, additional, Minks, Kelly, additional, Trimouille, Aurélien, additional, Lasseaux, Eulalie, additional, Lacombre, Didier, additional, Angelini, Chloé, additional, Michaud, Vincent, additional, Van-Gils, Julien, additional, Spataro, Nino, additional, Ruiz, Anna, additional, Gabau, Elizabeth, additional, Stolerman, Elliot, additional, Washington, Camerun, additional, Louie, Raymond J., additional, Lanpher, Brendan C, additional, Kemppainen, Jennifer L., additional, Innes, A. Micheil, additional, Kooy, R. Frank, additional, Meuwissen, Marije, additional, Goldenberg, Alice, additional, Lecoquierre, François, additional, Vera, Gabriella, additional, Diderich, Karin E M, additional, Sheidley, Beth Rosen, additional, El Achkar, Christelle Moufawad, additional, Park, Meredith, additional, Hamdan, Fadi F., additional, Michaud, Jacques L., additional, Lewis, Ann J., additional, Zweier, Christiane, additional, Reis, André, additional, Wagner, Matias, additional, Weigand, Heike, additional, Journel, Hubert, additional, Keren, Boris, additional, Passemard, Sandrine, additional, Mignot, Cyril, additional, van Gassen, Koen L.I., additional, Brilstra, Eva H., additional, Itzikowitz, Gina, additional, O’Heir, Emily, additional, Allen, Jake, additional, Donald, Kirsten A., additional, Korf, Bruce R., additional, Skelton, Tammi, additional, Thompson, Michelle L, additional, Robin, Nathaniel H., additional, Rudy, Natasha, additional, Dobyns, William B., additional, Foss, Kimberly, additional, Zarate, Yuri A, additional, Bosanko, Katherine A., additional, Alembik, Yves, additional, Durand, Benjamin, additional, Mau-Them, Frédéric Tran, additional, Ranza, Emmanuelle, additional, Blanc, Xavier, additional, Antonarakis, Stylianos E., additional, McWalter, Kirsty, additional, Torti, Erin, additional, Millan, Francisca, additional, Dameron, Amy, additional, Tokita, Mari J., additional, Zimmermann, Michael T., additional, Dsouza, Nikita R., additional, Klee, Eric W., additional, Piton, Amélie, additional, and Gerard, Bénédicte, additional

Published
2020
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48. The spectrum of brain malformations and disruptions in twins

Author

Park, Kaylee B., primary, Chapman, Teresa, additional, Aldinger, Kimberly A., additional, Mirzaa, Ghayda M., additional, Zeiger, Jordan, additional, Beck, Anita, additional, Glass, Ian A., additional, Hevner, Robert F., additional, Jansen, Anna C., additional, Marshall, Desiree A., additional, Oegema, Renske, additional, Parrini, Elena, additional, Saneto, Russell P., additional, Curry, Cynthia J., additional, Hall, Judith G., additional, Guerrini, Renzo, additional, Leventer, Richard J., additional, and Dobyns, William B., additional

Published
2020
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50. Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Author

Harris, Holly K., primary, Nakayama, Tojo, additional, Lai, Jenny, additional, Zhao, Boxun, additional, Argyrou, Nikoleta, additional, Gubbels, Cynthia S., additional, Soucy, Aubrie, additional, Genetti, Casie A., additional, Rodan, Lance H., additional, Tiller, George E., additional, Lesca, Gaetan, additional, Gripp, Karen W., additional, Asadollahi, Reza, additional, Hamosh, Ada, additional, Applegate, Carolyn D., additional, Turnpenny, Peter D., additional, Simon, Marleen E.H., additional, Volker-Touw, Catharina (Nienke) M.L., additional, van Gassen, Koen L.I., additional, van Binsbergen, Ellen, additional, Pfundt, Rolph, additional, Gardeitchik, Thatjana, additional, de Vries, Bert B.A., additional, Imken, Ladonna L., additional, Buchanan, Catherine, additional, Willing, Marcia, additional, Toler, Tomi L., additional, Fassi, Emily, additional, Baker, Laura, additional, Vansenne, Fleur, additional, Wang, Xiadong, additional, Ambrus, Julian L., additional, Fannemel, Madeleine, additional, Posey, Jennifer E., additional, Agolini, Emanuele, additional, Novelli, Antonio, additional, Rauch, Anita, additional, Boonsawat, Paranchai, additional, Fagerberg, Christina R., additional, Larsen, Martin J., additional, Kibaek, Maria, additional, Labalme, Audrey, additional, Poisson, Alice, additional, Payne, Katelyn K., additional, Walsh, Laurence E., additional, Aldinger, Kimberly, additional, Balciuniene, Jorune, additional, Skraban, Cara, additional, Gray, Christopher, additional, Murrell, Jill, additional, Bupp, Caleb P., additional, Pascolini, Giulia, additional, Grammatico, Paola, additional, Broly, Martin, additional, Küry, Sébastien, additional, Nizon, Mathilde, additional, Rasool, Iqra Ghulam, additional, Zahoor, Muhammad Yasir, additional, Kraus, Cornelia, additional, Reis, André, additional, Iqbal, Muhammad, additional, Uguen, Kevin, additional, Audebert-Bellanger, Severine, additional, Ferec, Claude, additional, Redon, Sylvia, additional, Baker, Janice, additional, Wu, Yunhong, additional, Zampino, Guiseppe, additional, Syrbe, Steffan, additional, Brosse, Ines, additional, Jamra, Rami Abou, additional, Dobyns, William B., additional, Cohen, Lilian L., additional, Agrawal, Pankaj B., additional, Beggs, Alan, additional, and Yu, Timothy W., additional

Published
2020
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