| 2 |
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti, Erin, Keren, Boris, Palmer, Elizabeth E, Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse J, Andrews, Marisa V, Atkinson, Celia, Au, Margaret, Berry, Susan A, Bowling, Kevin M, Boyle, Jackie, Buratti, Julien, Cathey, Sara S, Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F, Finley, Sabra Ledare, Graham, John M, Grange, Dorothy K, Heron, Delphine, Hewson, Stacy, Hiatt, Susan M, Hibbs, Kathleen A, Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R, Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A, Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G, Person, Richard E, Willaert, Rebecca, Solomon, Benjamin D, Juusola, Jane,
|
2019 |
219
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| 1 |
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, , , Kini, Usha, Philippe, Christophe,
Vol. 21 pp. 1667-1671
|
2019 |
158
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| 8 |
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Sanghvi, Rashesh V, Buhay, Christian J, Powell, Bradford C, Tsai, Ellen A, Dorschner, Michael O, Hong, Celine S, Lebo, Matthew S, Sasson, Ariella, Hanna, David S, McGee, Sean, Bowling, Kevin M, Cooper, Gregory M, Gray, David E, Lonigro, Robert J, Dunford, Andrew, Brennan, Christine A, Cibulskis, Carrie, Walker, Kimberly, Carneiro, Mauricio O, Sailsbery, Joshua, Hindorff, Lucia A, Robinson, Dan R, Santani, Avni, Sarmady, Mahdi, Rehm, Heidi L, Biesecker, Leslie G, Nickerson, Deborah A, Hutter, Carolyn M, Garraway, Levi, Muzny, Donna M, Wagle, Nikhil, , ,
Vol. 20 pp. 855-866
|
2018 |
70
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| 9 |
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali, Elisa, Quirin, Tania, Rocca, Clarissa, Efthymiou, Stephanie, Riva, Antonella, Marafi, Dana, Zaki, Maha S, Suri, Mohnish, Dominguez, Roberto, Elbendary, Hasnaa M, Alavi, Shahryar, Abdel-Hamid, Mohamed S, Morsy, Heba, Mau-Them, Frederic Tran, Nizon, Mathilde, Tesner, Pavel, Ryba, Lukáš, Zafar, Faisal, Rana, Nuzhat, Saadi, Nebal W, Firoozfar, Zahra, Gencpinar, Pinar, Unay, Bulent, Ustun, Canan, Bruel, Ange-Line, Coubes, Christine, Stefanich, Jennifer, Sezer, Ozlem, Agolini, Emanuele, Novelli, Antonio, Vasco, Gessica, Lettori, Donatella, Milh, Mathieu, Villard, Laurent, Zeidler, Shimriet, Opperman, Henry, Strehlow, Vincent, Issa, Mahmoud Y, El Khassab, Hebatallah, Chand, Prem, Ibrahim, Shahnaz, Nejad-Rashidi, Ali, Miryounesi, Mohammad, Larki, Pegah, Morrison, Jennifer, Cristian, Ingrid, Thiffault, Isabelle, Bertsch, Nicole L, Noh, Grace J, Pappas, John, Moran, Ellen, Marinakis, Nikolaos M, Traeger-Synodinos, Joanne, Hosseini, Susan, Abbaszadegan, Mohammad Reza, Caumes, Roseline, Vissers, Lisenka E L M, Neshatdoust, Maedeh, Montazer, Mostafa Zohour, El Fahime, Elmostafa, Canavati, Christin, Kamal, Lara, Kanaan, Moien, Askander, Omar, Voinova, Victoria, Levchenko, Olga, Haider, Shahzhad, Halbach, Sara S, Maia, Elias Rayana, Mansoor, Salehi, Vivek, Jain, Tawde, Sanjukta, Santhosh R Challa, Viveka, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Victor, Lucas Alves, Pinero-Banos, Benito, Hague, Jennifer, Ei-Awady, Heba Ahmed, Maria de Miranda Henriques-Souza, Adelia, Cheema, Huma Arshad, Anjum, Muhammad Nadeem, Idkaidak, Sara, Alqarajeh, Firas, Atawneh, Osama, Mor-Shaked, Hagar, Harel, Tamar, Zifarelli, Giovanni, Bauer, Peter, Kok, Fernando, Kitajima, Joao Paulo, Monteiro, Fabiola, Josahkian, Juliana, Lesca, Gaetan, Chatron, Nicolas, Ville, Dorothe, Murphy, David, Neul, Jeffrey L, Mullegama, Sureni V, Begtrup, Amber, Herman, Isabella, Mitani, Tadahiro, Posey, Jennifer E, Tay, Chee Geap, Javed, Iram, Carr, Lucinda, Kanani, Farah, Beecroft, Fiona, Hane, Lee, Abdelkreem, Elsayed, Macek, Milan, Bispo, Luciana, Elmaksoud, Marwa Abd, Hashemi-Gorji, Farzad, Pehlivan, Davut, Amor, David J, Jamra, Rami Abou, Chung, Wendy K, Ghayoor, Eshan Karimiani, Campeau, Philippe, Alkuraya, Fowzan S, Pagnamenta, Alistair T, Gleeson, Joseph, Lupski, James R, Striano, Pasquale, Moreno-De-Luca, Andres, Lafontaine, Denis L J, Houlden, Henry, Maroofian, Reza,
pp. 101251
|
2024 |
39
|
| 10 |
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot, Erik, Óskarsdóttir, Sólveig, Loo, Joanne C Y, Crowley, Terrence Blaine, Orchanian-Cheff, Ani, Andrade, Danielle M, Arganbright, Jill M, Castelein, René M, Cserti-Gazdewich, Christine, de Reuver, Steven, Fiksinski, Ania M, Klingberg, Gunilla, Lang, Anthony E, Mascarenhas, Maria R, Moss, Edward M, Nowakowska, Beata Anna, Oechslin, Erwin, Palmer, Lisa, Repetto, Gabriela M, Reyes, Nikolai Gil D, Schneider, Maude, Silversides, Candice, Sullivan, Kathleen E, Swillen, Ann, van Amelsvoort, Therese A M J, Van Batavia, Jason P, Vingerhoets, Claudia, McDonald-McGinn, Donna M, Bassett, Anne S
Vol. 25 pp. 100344
|
2023 |
24
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