283 results on '"Cogné, Benjamin"'
Search Results
2. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
- Author
-
Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, and Charbonnier, Camille
- Published
- 2024
- Full Text
- View/download PDF
3. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
- Author
-
Palmer, Elizabeth, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan, Chedrawi, Aziza, Hashem, Mais, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer, Sands, Tristan, Wilson, Golder, Silvertooth, Erin, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein, Ockeloen, Charlotte, Pfundt, Rolph, Kroft, Sanne, Field, Michael, Laranjeira, Francisco, Fortuna, Ana, Soares, Ana, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David, Bird, Lynne, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe, Blazo, Maria, Bijlsma, Emilia, Rosenfeld, Jill, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb, Armstrong, Ruth, and Kalscheuer, Vera
- Subjects
Male ,Female ,Humans ,Neurodevelopmental Disorders ,Mutation ,Missense ,Genes ,X-Linked ,Phenotype ,Chloride Channels - Abstract
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a shift of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.
- Published
- 2023
4. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
- Author
-
Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, and Banka, Siddharth
- Published
- 2024
- Full Text
- View/download PDF
5. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
- Author
-
Deb, Wallid, Rosenfelt, Cory, Vignard, Virginie, Papendorf, Jonas Johannes, Möller, Sophie, Wendlandt, Martin, Studencka-Turski, Maja, Cogné, Benjamin, Besnard, Thomas, Ruffier, Léa, Toutain, Bérénice, Poirier, Léa, Cuinat, Silvestre, Kritzer, Amy, Crunk, Amy, diMonda, Janette, Vengoechea, Jaime, Mercier, Sandra, Kleinendorst, Lotte, van Haelst, Mieke M., Zuurbier, Linda, Sulem, Telma, Katrínardóttir, Hildigunnur, Friðriksdóttir, Rún, Sulem, Patrick, Stefansson, Kari, Jonsdottir, Berglind, Zeidler, Shimriet, Sinnema, Margje, Stegmann, Alexander P.A., Naveh, Natali, Skraban, Cara M., Gray, Christopher, Murrell, Jill R., Isikay, Sedat, Pehlivan, Davut, Calame, Daniel G., Posey, Jennifer E., Nizon, Mathilde, McWalter, Kirsty, Lupski, James R., Isidor, Bertrand, Bolduc, François V., Bézieau, Stéphane, Krüger, Elke, Küry, Sébastien, and Ebstein, Frédéric
- Published
- 2024
- Full Text
- View/download PDF
6. LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
- Author
-
Chettle, James, Louie, Raymond J., Larner, Olivia, Best, Robert, Chen, Kevin, Morris, Josephine, Dedeic, Zinaida, Childers, Anna, Rogers, R. Curtis, DuPont, Barbara R., Skinner, Cindy, Küry, Sébastien, Uguen, Kevin, Planes, Marc, Monteil, Danielle, Li, Megan, Eliyahu, Aviva, Greenbaum, Lior, Mor, Nofar, Besnard, Thomas, Isidor, Bertrand, Cogné, Benjamin, Blesson, Alyssa, Comi, Anne, Wentzensen, Ingrid M., Vuocolo, Blake, Lalani, Seema R., Sierra, Roberta, Berry, Lori, Carter, Kent, Sanders, Stephan J., and Blagden, Sarah P.
- Published
- 2024
- Full Text
- View/download PDF
7. Penetrance, variable expressivity and monogenic neurodevelopmental disorders
- Author
-
de Masfrand, Servane, Cogné, Benjamin, Nizon, Mathilde, Deb, Wallid, Goldenberg, Alice, Lecoquierre, François, Nicolas, Gaël, Bournez, Marie, Vitobello, Antonio, Mau-Them, Frédéric Tran, le Guyader, Gwenaël, Bilan, Frédéric, Bauer, Peter, Zweier, Christiane, Piard, Juliette, Pasquier, Laurent, Bézieau, Stéphane, Gerard, Bénédicte, Faivre, Laurence, Saugier-Veber, Pascale, Piton, Amélie, and Isidor, Bertrand
- Published
- 2024
- Full Text
- View/download PDF
8. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
- Author
-
Scala, Marcello, Khan, Kamal, Beneteau, Claire, Fox, Rachel G., von Hardenberg, Sandra, Khan, Ayaz, Joubert, Madeleine, Fievet, Lorraine, Musquer, Marie, Le Vaillant, Claudine, Holsclaw, Julie Korda, Lim, Derek, Berking, Ann-Cathrine, Accogli, Andrea, Giacomini, Thea, Nobili, Lino, Striano, Pasquale, Zara, Federico, Torella, Annalaura, Nigro, Vincenzo, Cogné, Benjamin, Salick, Max R., Kaykas, Ajamete, Eggan, Kevin, Capra, Valeria, Bézieau, Stéphane, Davis, Erica E., and Wells, Michael F.
- Published
- 2024
- Full Text
- View/download PDF
9. SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
- Author
-
de Sainte Agathe, Jean-Madeleine, Filser, Mathilde, Isidor, Bertrand, Besnard, Thomas, Gueguen, Paul, Perrin, Aurélien, Van Goethem, Charles, Verebi, Camille, Masingue, Marion, Rendu, John, Cossée, Mireille, Bergougnoux, Anne, Frobert, Laurent, Buratti, Julien, Lejeune, Élodie, Le Guern, Éric, Pasquier, Florence, Clot, Fabienne, Kalatzis, Vasiliki, Roux, Anne-Françoise, Cogné, Benjamin, and Baux, David
- Published
- 2023
- Full Text
- View/download PDF
10. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
- Author
-
Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, De Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A.R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W.E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, and Vasileiou, Georgia
- Published
- 2023
- Full Text
- View/download PDF
11. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
- Author
-
Accogli, Andrea, Lin, Sheng-Jia, Severino, Mariasavina, Kim, Sung-Hoon, Huang, Kevin, Rocca, Clarissa, Landsverk, Megan, Zaki, Maha S., Al-Maawali, Almundher, Srinivasan, Varunvenkat M., Al-Thihli, Khalid, Schaefer, G. Bradly, Davis, Monica, Tonduti, Davide, Doneda, Chiara, Marten, Lara M., Mühlhausen, Chris, Gomez, Maria, Lamantea, Eleonora, Mena, Rafael, Nizon, Mathilde, Procaccio, Vincent, Begtrup, Amber, Telegrafi, Aida, Cui, Hong, Schulz, Heidi L., Mohr, Julia, Biskup, Saskia, Loos, Mariana Amina, Aráoz, Hilda Verónica, Salpietro, Vincenzo, Keppen, Laura Davis, Chitre, Manali, Petree, Cassidy, Raymond, Lucy, Vogt, Julie, Sawyer, Lindsey B., Basinger, Alice A., Pedersen, Signe Vandal, Pearson, Toni S., Grange, Dorothy K., Lingappa, Lokesh, McDunnah, Paige, Horvath, Rita, Cognè, Benjamin, Isidor, Bertrand, Hahn, Andreas, Gripp, Karen W., Jafarnejad, Seyed Mehdi, Østergaard, Elsebet, Prada, Carlos E., Ghezzi, Daniele, Gowda, Vykuntaraju K., Taylor, Robert W., Sonenberg, Nahum, Houlden, Henry, Sissler, Marie, Varshney, Gaurav K., and Maroofian, Reza
- Published
- 2023
- Full Text
- View/download PDF
12. A new neurodevelopmental disorder linked to heterozygous variants in UNC79
- Author
-
Bayat, Allan, Liu, Zhenjiang, Luo, Sheng, Fenger, Christina D., Højte, Anne F., Isidor, Bertrand, Cogne, Benjamin, Larson, Austin, Zanus, Caterina, Faletra, Flavio, Keren, Boris, Musante, Luciana, Gourfinkel-An, Isabelle, Perrine, Charles, Demily, Caroline, Lesca, Gaeton, Liao, Weiping, and Ren, Dejian
- Published
- 2023
- Full Text
- View/download PDF
13. Bi-allelic variants in INTS11 are associated with a complex neurological disorder
- Author
-
Acosta, Maria T., Adam, Margaret, Adams, David R., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldrich, Madison P., Grajewski, Alana, Gutierrez, Irma, Hadley, Don, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Mahoney, Rachel, Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Nakano-Okuno, Mariko, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Raper, Anna, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Krezel, Lilianna Solnica, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L.M., Tan, Queenie K.- G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz-Hubshman, Monika, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zastrow, Diane B., Zhang, Zhe, Zhao, Chunli, Zuchner, Stephan, Tepe, Burak, Macke, Erica L., Niceta, Marcello, Weisz Hubshman, Monika, Kanca, Oguz, Schultz-Rogers, Laura, Zarate, Yuri A., Schaefer, G. Bradley, Granadillo De Luque, Jorge Luis, Wegner, Daniel J., Cogne, Benjamin, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Wagner, Eric J., Pais, Lynn S., Neil, Jennifer E., Mochida, Ganeshwaran H., Walsh, Christopher A., Magal, Nurit, Drasinover, Valerie, Shohat, Mordechai, Schwab, Tanya, Schmitz, Chris, Clark, Karl, Fine, Anthony, Lanpher, Brendan, Gavrilova, Ralitza, Blanc, Pierre, Burglen, Lydie, Afenjar, Alexandra, Steel, Dora, Kurian, Manju A., Prabhakar, Prab, Gößwein, Sophie, Di Donato, Nataliya, Bertini, Enrico S., Tartaglia, Marco, and Klee, Eric W.
- Published
- 2023
- Full Text
- View/download PDF
14. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
- Author
-
Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C, Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J, 99 Lives Consortium, Cadena, Elizabeth L, Daiger, Stephen P, Bujakowska, Kinga M, Pierce, Eric A, Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M, Occelli, Laurence M, Lyons, Leslie A, Legeai-Mallet, Laurence, Sullivan, Lori S, Davis, Erica E, and Isidor, Bertrand
- Subjects
Lives Consortium ,Retina ,Cilia ,Animals ,Zebrafish ,Cats ,Humans ,Rhodopsin ,Pedigree ,Amino Acid Sequence ,Larva ,Heterozygote ,Genes ,Dominant ,Phenotype ,Mutation ,Middle Aged ,Child ,Preschool ,Female ,Male ,Photoreceptor Cells ,Genome-Wide Association Study ,Young Adult ,Ciliopathies ,Kinesins ,KIF3B ,feline genetics ,hepatic fibrosis ,kinesin ,primary cilia ,retinopathy ,whole-exome sequencing ,zebrafish ,Neurosciences ,Clinical Research ,Genetics ,Pediatric ,Polycystic Kidney Disease ,Eye Disease and Disorders of Vision ,Congenital Structural Anomalies ,Neurodegenerative ,Kidney Disease ,Rare Diseases ,Aetiology ,2.1 Biological and endogenous factors ,Eye ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using exome sequencing, we identified heterozygous KIF3B variants in two unrelated families with hallmark ciliopathy phenotypes. In the first family, the proband presents with hepatic fibrosis, retinitis pigmentosa, and postaxial polydactyly; he harbors a de novo c.748G>C (p.Glu250Gln) variant affecting the kinesin motor domain encoded by KIF3B. The second family is a six-generation pedigree affected predominantly by retinitis pigmentosa. Affected individuals carry a heterozygous c.1568T>C (p.Leu523Pro) KIF3B variant segregating in an autosomal-dominant pattern. We observed a significant increase in primary cilia length in vitro in the context of either of the two mutations while variant KIF3B proteins retained stability indistinguishable from wild type. Furthermore, we tested the effects of KIF3B mutant mRNA expression in the developing zebrafish retina. In the presence of either missense variant, rhodopsin was sequestered to the photoreceptor rod inner segment layer with a concomitant increase in photoreceptor cilia length. Notably, impaired rhodopsin trafficking is also characteristic of recessive KIF3B models as exemplified by an early-onset, autosomal-recessive, progressive retinal degeneration in Bengal cats; we identified a c.1000G>A (p.Ala334Thr) KIF3B variant by genome-wide association study and whole-genome sequencing. Together, our genetic, cell-based, and in vivo modeling data delineate an autosomal-dominant syndromic retinal ciliopathy in humans and suggest that multiple KIF3B pathomechanisms can impair kinesin-driven ciliary transport in the photoreceptor.
- Published
- 2020
15. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
- Author
-
Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, and Depienne, Christel
- Subjects
Intellectual and Developmental Disabilities (IDD) ,Pediatric ,Genetics ,Brain Disorders ,Clinical Research ,Rare Diseases ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Adolescent ,Adult ,Animals ,Child ,Child ,Preschool ,DNA-Binding Proteins ,Female ,Genetic Predisposition to Disease ,Haploinsufficiency ,Humans ,Infant ,Intellectual Disability ,Language Development Disorders ,Male ,Mutation ,Missense ,Neurodevelopmental Disorders ,Pedigree ,Phenotype ,SOXD Transcription Factors ,Young Adult ,autism ,developmental delay ,intellectual disability ,epilepsy ,missense variants ,Deciphering Developmental DisorderStudy ,missense variants. ,Clinical Sciences ,Genetics & Heredity - Abstract
PurposeLamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.MethodsClinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various types ofSOX5 alterations. Functional consequences of selected substitutions were investigated.ResultsMicrodeletions and truncating variants occurred throughout SOX5. In contrast, most missense variants clustered in the pivotal SOX-specific high-mobility-group domain. The latter variants prevented SOX5 from binding DNA and promoting transactivation in vitro, whereas missense variants located outside the high-mobility-group domain did not. Clinical manifestations and severity varied among patients. No clear genotype-phenotype correlations were found, except that missense variants outside the high-mobility-group domain were generally better tolerated.ConclusionsThis study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features.
- Published
- 2020
16. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
- Author
-
Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R, Sanders, Stephan J, Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S, Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H, Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T, Humberson, Jennifer B, Robak, Laurie, Scott, Daryl A, Sutton, Vernon R, Skraban, Cara M, Johnston, Jennifer J, Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H, Bongers, Ernie MHF, Gilissen, Christian, Zarate, Yuri A, Kvarnung, Malin, Lally, Kevin P, Kulch, Peggy A, Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R, Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M, Klee, Eric W, Sapp, Julie C, Zyskind, Jacob, Holla, Øystein L, Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L, Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N, Dewan, Tammie, Coban Akdemir, Zeynep H, Telegrafi, Aida, Zackai, Elaine H, Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M, Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, CAUSES Study, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I, Pichurin, Pavel N, Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L, Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G, Lowenstein, Dan, Posey, Jennifer E, and Denommé-Pichon, Anne-Sophie
- Subjects
CAUSES Study ,Deciphering Developmental Disorders study ,Humans ,Syndrome ,Adaptor Proteins ,Signal Transducing ,Nuclear Proteins ,Prognosis ,Autistic Disorder ,Amino Acid Sequence ,Sequence Homology ,Mutation ,Missense ,Adolescent ,Adult ,Child ,Child ,Preschool ,Infant ,Female ,Male ,Young Adult ,Genetic Association Studies ,Intellectual Disability ,TRRAP ,autism spectrum disorder ,congenital malformations ,de novo variants ,histone acetylation ,intellectual disability ,neurodevelopmental disorders ,Intellectual and Developmental Disabilities (IDD) ,Pediatric ,Genetics ,Brain Disorders ,Neurosciences ,Mental Health ,Autism ,Rare Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Mental health ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants.
- Published
- 2019
17. SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
- Author
-
El Chehadeh, Salima, Han, Kyung Ah, Kim, Dongwook, Jang, Gyubin, Bakhtiari, Somayeh, Lim, Dongseok, Kim, Hee Young, Kim, Jinhu, Kim, Hyeonho, Wynn, Julia, Chung, Wendy K., Vitiello, Giuseppina, Cutcutache, Ioana, Page, Matthew, Gecz, Jozef, Harper, Kelly, Han, Ah-reum, Kim, Ho Min, Wessels, Marja, Bayat, Allan, Jaén, Alberto Fernández, Selicorni, Angelo, Maitz, Silvia, de Brouwer, Arjan P. M., Silfhout, Anneke Vulto-van, Armstrong, Martin, Symonds, Joseph, Küry, Sébastien, Isidor, Bertrand, Cogné, Benjamin, Nizon, Mathilde, Feger, Claire, Muller, Jean, Torti, Erin, Grange, Dorothy K., Willems, Marjolaine, Kruer, Michael C., Ko, Jaewon, Piton, Amélie, and Um, Ji Won
- Published
- 2022
- Full Text
- View/download PDF
18. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
- Author
-
Ha, Thoa, Morgan, Angela, Bartos, Meghan N., Beatty, Katelyn, Cogné, Benjamin, Braun, Dominique, Gerber, Céline B., Gaspar, Harald, Kopps, Anna M., Rieubland, Claudine, Hurst, Anna C. E., Amor, David J., Nizon, Mathilde, Pasquier, Laurent, Pfundt, Rolph, Reis, André, Siu, Victoria Mok, Tessarech, Marine, Thompson, Michelle L., and Vincent, Marie
- Abstract
The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding domain, Acyl‐CoA synthetase domain and AMP‐binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons in D. melanogaster and is required for axonal regeneration in the neurons of C. elegans. The DIP2 homologues in vertebrates, Disco‐interacting protein 2 homolog A (DIP2A), Disco‐interacting protein 2 homolog B (DIP2B), and Disco‐interacting protein 2 homolog C (DIP2C), are highly conserved and expressed widely in the central nervous system. Although there is evidence that DIP2C plays a role in cognition, reports of pathogenic variants in these genes are rare and their significance is uncertain. We present 23 individuals with heterozygous DIP2C variants, all manifesting developmental delays that primarily affect expressive language and speech articulation. Eight patients had de novo variants predicting loss‐of‐function in the DIP2C gene, two patients had de novo missense variants, three had paternally inherited loss of function variants and six had maternally inherited loss‐of‐function variants, while inheritance was unknown for four variants. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects, and bicuspid aortic valve). Minor facial anomalies were inconsistent but included a high anterior hairline with a long forehead, broad nasal tip, and ear anomalies. Brainspan analysis showed elevated DIP2C expression in the human neocortex at 10–24 weeks after conception. With the cases presented herein, we provide phenotypic and genotypic data supporting the association between loss‐of‐function variants in DIP2C with a neurocognitive phenotype. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
19. Response to a letter to the editor
- Author
-
Jury, Jeanne, Nizon, Mathilde, Cogné, Benjamin, and Isidor, Bertrand
- Published
- 2023
- Full Text
- View/download PDF
20. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
- Author
-
Thomas, Quentin, Gautier, Thierry, Marafi, Dana, Besnard, Thomas, Willems, Marjolaine, Moutton, Sébastien, Isidor, Bertand, Cogné, Benjamin, Conrad, Solène, Tenconi, Romano, Iascone, Maria, Sorlin, Arthur, Masurel, Alice, Dabir, Tabib, Jackson, Adam, Banka, Siddharth, Delanne, Julian, Lupski, James R., Saadi, Nebal Waill, Alkuraya, Fowzan S., Zahrani, Fatema Al, Agrawal, Pankaj B., England, Eleina, Madden, Jill A., Posey, Jennifer E., Burglen, Lydie, Rodriguez, Diana, Chevarin, Martin, Nguyen, Sylvie, Mau-Them, Frédéric Tran, Duffourd, Yannis, Garret, Philippine, Bruel, Ange-Line, Callier, Patrick, Marle, Nathalie, Denomme-Pichon, Anne-Sophie, Duplomb, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel, Govin, Jérôme, Faivre, Laurence, and Vitobello, Antonio
- Published
- 2021
- Full Text
- View/download PDF
21. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
- Author
-
Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N, Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T, Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G, McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M, Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Sacoto, Maria J Guillen, Safina, Nicole P, Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H, Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Shamsi, Aisha Mohamed Al, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J, Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E, Pasquier, Laurent, and Küry, Sébastien
- Subjects
Biological Sciences ,Bioinformatics and Computational Biology ,Biomedical and Clinical Sciences ,Genetics ,Intellectual and Developmental Disabilities (IDD) ,Neurodegenerative ,Neurosciences ,Pediatric ,Rare Diseases ,Brain Disorders ,Autism ,Mental Health ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Adolescent ,Adult ,Aged ,80 and over ,Alleles ,Animals ,Autistic Disorder ,Brain ,Cerebellar Ataxia ,Child ,Child ,Preschool ,DNA Copy Number Variations ,Disease Models ,Animal ,Female ,Genes ,Dominant ,Genetic Complementation Test ,Humans ,Intellectual Disability ,Larva ,Magnetic Resonance Imaging ,Male ,Middle Aged ,Mutation ,Missense ,Nuclear Receptor Subfamily 1 ,Group F ,Member 1 ,Purkinje Cells ,Syndrome ,Zebrafish ,RORA ,autistic features ,cerebellar ataxia ,dual molecular effects ,epilepsy ,intellectual disability ,neurodevelopmental disorder ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to result from homozygous intragenic Rora deletions. However, RORA mutations were hitherto undocumented in humans. Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy. Consistent with the human and mouse data, disruption of the D. rerio ortholog, roraa, causes significant reduction in the size of the developing cerebellum. Systematic in vivo complementation studies showed that, whereas wild-type human RORA mRNA could complement the cerebellar pathology, missense variants had two distinct pathogenic mechanisms of either haploinsufficiency or a dominant toxic effect according to their localization in the ligand-binding or DNA-binding domains, respectively. This dichotomous direction of effect is likely relevant to the phenotype in humans: individuals with loss-of-function variants leading to haploinsufficiency show ID with autistic features, while individuals with de novo dominant toxic variants present with ID, ataxia, and cerebellar atrophy. Our combined genetic and functional data highlight the complex mutational landscape at the human RORA locus and suggest that dual mutational effects likely determine phenotypic outcome.
- Published
- 2018
22. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
- Author
-
Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, and Retterer, Kyle
- Subjects
Biological Sciences ,Bioinformatics and Computational Biology ,Biomedical and Clinical Sciences ,Neurosciences ,Brain Disorders ,Genetics ,Intellectual and Developmental Disabilities (IDD) ,Pediatric ,Underpinning research ,1.1 Normal biological development and functioning ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Animals ,Brain ,Calcium-Calmodulin-Dependent Protein Kinase Type 2 ,Cell Line ,Exome ,Female ,Glutamic Acid ,HEK293 Cells ,Humans ,Intellectual Disability ,Male ,Mice ,Mice ,Inbred C57BL ,Mutation ,Neurons ,Phosphorylation ,Signal Transduction ,Undiagnosed Diseases Network ,GEM HUGO ,Deciphering Developmental Disorders Study ,AMPAR ,CAMK2 ,CAMK2A ,CAMK2B ,NMDAR ,de novo mutations ,intellectual disability ,synaptic plasticity ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development has not yet been established. Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. Variants were assessed for their effect on CAMK2 function and on neuronal migration. For both CAMK2A and CAMK2B, we identified mutations that decreased or increased CAMK2 auto-phosphorylation at Thr286/Thr287. We further found that all mutations affecting auto-phosphorylation also affected neuronal migration, highlighting the importance of tightly regulated CAMK2 auto-phosphorylation in neuronal function and neurodevelopment. Our data establish the importance of CAMK2A and CAMK2B and their auto-phosphorylation in human brain function and expand the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway.
- Published
- 2017
23. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
- Author
-
Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N, Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A, Craigen, William J, Sanders, Stephan J, Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T, Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G, Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A, Patel, Ankita, Smith, Janice L, Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M, Gibson, James B, Cogné, Benjamin, Lupski, James R, Stessman, Holly AF, Eichler, Evan E, Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A, Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, and Isidor, Bertrand
- Subjects
Biochemistry and Cell Biology ,Bioinformatics and Computational Biology ,Biological Sciences ,Neurosciences ,Congenital Structural Anomalies ,Dental/Oral and Craniofacial Disease ,Biotechnology ,Genetics ,Intellectual and Developmental Disabilities (IDD) ,Human Genome ,Pediatric ,Brain Disorders ,2.1 Biological and endogenous factors ,Aetiology ,Adolescent ,Animals ,Child ,Child ,Preschool ,DNA Copy Number Variations ,Disease Models ,Animal ,Down-Regulation ,Female ,Gene Deletion ,Humans ,Infant ,Intellectual Disability ,Male ,Microcephaly ,Neurodevelopmental Disorders ,Polymorphism ,Single Nucleotide ,Proteasome Endopeptidase Complex ,Zebrafish ,PSMD12 ,RPN5 ,intellectual disability ,proteasome 26S ,syndromic neurodevelopmental disorder ,ubiquitin ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features. We observed reduced PSMD12 levels and an accumulation of ubiquitinated proteins without any impairment of proteasome catalytic activity. Our PSMD12 loss-of-function zebrafish CRISPR/Cas9 model exhibited microcephaly, decreased convolution of the renal tubules, and abnormal craniofacial morphology. Our data support the biological importance of PSMD12 as a scaffolding subunit in proteasome function during development and neurogenesis in particular; they enable the definition of a neurodevelopmental disorder due to PSMD12 variants, expanding the phenotypic spectrum of UPS-dependent disorders.
- Published
- 2017
24. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
- Author
-
Harms, Frederike Leonie, Girisha, Katta M, Hardigan, Andrew A, Kortüm, Fanny, Shukla, Anju, Alawi, Malik, Dalal, Ashwin, Brady, Lauren, Tarnopolsky, Mark, Bird, Lynne M, Ceulemans, Sophia, Bebin, Martina, Bowling, Kevin M, Hiatt, Susan M, Lose, Edward J, Primiano, Michelle, Chung, Wendy K, Juusola, Jane, Akdemir, Zeynep C, Bainbridge, Matthew, Charng, Wu-Lin, Drummond-Borg, Margaret, Eldomery, Mohammad K, El-Hattab, Ayman W, Saleh, Mohammed AM, Bézieau, Stéphane, Cogné, Benjamin, Isidor, Bertrand, Küry, Sébastien, Lupski, James R, Myers, Richard M, Cooper, Gregory M, and Kutsche, Kerstin
- Subjects
Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Human Genome ,Biotechnology ,Brain Disorders ,Intellectual and Developmental Disabilities (IDD) ,Pediatric ,2.1 Biological and endogenous factors ,Aetiology ,Generic health relevance ,Adolescent ,Adult ,Amino Acid Substitution ,Ataxia ,Child ,Child ,Preschool ,Chromatin ,Cyclin-Dependent Kinase Inhibitor p21 ,Developmental Disabilities ,Exome ,Face ,Female ,Gene Expression Regulation ,Genes ,Reporter ,HEK293 Cells ,Humans ,Intellectual Disability ,Language Development Disorders ,Male ,Models ,Molecular ,Mosaicism ,Mutation ,Neurodevelopmental Disorders ,Protein Transport ,Syndrome ,Transcription Factors ,Transcription ,Genetic ,EBF3 ,de novo mutation ,developmental delay ,gene regulation ,intellectual disability ,transcription factor ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
From a GeneMatcher-enabled international collaboration, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant detected by whole-exome sequencing. One 9-bp duplication and one splice-site, five missense, and two nonsense variants in EBF3 were found; the mutations occurred de novo in eight individuals, and the missense variant c.625C>T (p.Arg209Trp) was inherited by two affected siblings from their healthy mother, who is mosaic. EBF3 belongs to the early B cell factor family (also known as Olf, COE, or O/E) and is a transcription factor involved in neuronal differentiation and maturation. Structural assessment predicted that the five amino acid substitutions have damaging effects on DNA binding of EBF3. Transient expression of EBF3 mutant proteins in HEK293T cells revealed mislocalization of all but one mutant in the cytoplasm, as well as nuclear localization. By transactivation assays, all EBF3 mutants showed significantly reduced or no ability to activate transcription of the reporter gene CDKN1A, and in situ subcellular fractionation experiments demonstrated that EBF3 mutant proteins were less tightly associated with chromatin. Finally, in RNA-seq and ChIP-seq experiments, EBF3 acted as a transcriptional regulator, and mutant EBF3 had reduced genome-wide DNA binding and gene-regulatory activity. Our findings demonstrate that variants disrupting EBF3-mediated transcriptional regulation cause intellectual disability and developmental delay and are present in ∼0.1% of individuals with unexplained neurodevelopmental disorders.
- Published
- 2017
25. DLG4-related synaptopathy: a new rare brain disorder
- Author
-
Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B. A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, and Tümer, Zeynep
- Published
- 2021
- Full Text
- View/download PDF
26. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
- Author
-
Vera, Gabriella, Sorlin, Arthur, Delplancq, Geoffroy, Lecoquierre, François, Brasseur-Daudruy, Marie, Petit, Florence, Smol, Thomas, Ziegler, Alban, Bonneau, Dominique, Colin, Estelle, Mercier, Sandra, Cogné, Benjamin, Bézieau, Stéphane, Edery, Patrick, Lesca, Gaetan, Chatron, Nicolas, Sabatier, Isabelle, Duban-Bedu, Bénédicte, Colson, Cindy, Piton, Amélie, Durand, Benjamin, Capri, Yline, Perrin, Laurence, Wiesener, Antje, Zweier, Christiane, Maroofian, Reza, Carroll, Christopher J., Galehdari, Hamid, Mazaheri, Neda, Callewaert, Bert, Giulianno, Fabienne, Zaafrane-Khachnaoui, Khaoula, Buchert-Lo, Rebecca, Haack, Tobias, Magg, Janine, Rieß, Angelika, Blandfort, Maria, Waldmüller, Stephan, Horber, Veronka, Leonardi, Emanuela, Polli, Roberta, Turolla, Licia, Murgia, Alessandra, Frebourg, Thierry, Lebre, Anne Sophie, Nicolas, Gaël, Saugier-Veber, Pascale, and Guerrot, Anne-Marie
- Published
- 2020
- Full Text
- View/download PDF
27. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
- Author
-
Scala, Marcello, primary, Khan, Kamal, additional, Beneteau, Claire, additional, Fox, Rachel G., additional, von Hardenberg, Sandra, additional, Khan, Ayaz, additional, Joubert, Madeleine, additional, Fievet, Lorraine, additional, Musquer, Marie, additional, Le Vaillant, Claudine, additional, Holsclaw, Julie Korda, additional, Lim, Derek, additional, Berking, Ann-Cathrine, additional, Accogli, Andrea, additional, Giacomini, Thea, additional, Nobili, Lino, additional, Striano, Pasquale, additional, Zara, Federico, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Cogné, Benjamin, additional, Salick, Max R., additional, Kaykas, Ajamete, additional, Eggan, Kevin, additional, Capra, Valeria, additional, Bézieau, Stéphane, additional, Davis, Erica E., additional, and Wells, Michael F., additional
- Published
- 2023
- Full Text
- View/download PDF
28. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
- Author
-
Husson, Thomas, primary, Lecoquierre, François, additional, Nicolas, Gaël, additional, Richard, Anne-Claire, additional, Afenjar, Alexandra, additional, Audebert-Bellanger, Séverine, additional, Badens, Catherine, additional, Bilan, Frédéric, additional, Bizaoui, Varoona, additional, Boland, Anne, additional, Bonnet-Dupeyron, Marie-Noëlle, additional, Brischoux-Boucher, Elise, additional, Bonnet, Céline, additional, Bournez, Marie, additional, Boute, Odile, additional, Brunelle, Perrine, additional, Caumes, Roseline, additional, Charles, Perrine, additional, Chassaing, Nicolas, additional, Chatron, Nicolas, additional, Cogné, Benjamin, additional, Colin, Estelle, additional, Cormier-Daire, Valérie, additional, Dard, Rodolphe, additional, Dauriat, Benjamin, additional, Delanne, Julian, additional, Deleuze, Jean-François, additional, Demurger, Florence, additional, Denommé-Pichon, Anne-Sophie, additional, Depienne, Christel, additional, Dieux, Anne, additional, Dubourg, Christèle, additional, Edery, Patrick, additional, El Chehadeh, Salima, additional, Faivre, Laurence, additional, Fergelot, Patricia, additional, Fradin, Mélanie, additional, Garde, Aurore, additional, Geneviève, David, additional, Gilbert-Dussardier, Brigitte, additional, Goizet, Cyril, additional, Goldenberg, Alice, additional, Gouy, Evan, additional, Guerrot, Anne-Marie, additional, Guimier, Anne, additional, Harzalla, Inès, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Lacombe, Didier, additional, Le Guillou Horn, Xavier, additional, Keren, Boris, additional, Kuechler, Alma, additional, Lacaze, Elodie, additional, Lavillaureix, Alinoë, additional, Lehalle, Daphné, additional, Lesca, Gaëtan, additional, Lespinasse, James, additional, Levy, Jonathan, additional, Lyonnet, Stanislas, additional, Morel, Godeliève, additional, Jean-Marçais, Nolwenn, additional, Marlin, Sandrine, additional, Marsili, Luisa, additional, Mignot, Cyril, additional, Nambot, Sophie, additional, Nizon, Mathilde, additional, Olaso, Robert, additional, Pasquier, Laurent, additional, Perrin, Laurine, additional, Petit, Florence, additional, Pingault, Veronique, additional, Piton, Amélie, additional, Prieur, Fabienne, additional, Putoux, Audrey, additional, Planes, Marc, additional, Odent, Sylvie, additional, Quélin, Chloé, additional, Quemener-Redon, Sylvia, additional, Rama, Mélanie, additional, Rio, Marlène, additional, Rossi, Massimiliano, additional, Schaefer, Elise, additional, Rondeau, Sophie, additional, Saugier-Veber, Pascale, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, Touraine, Renaud, additional, Mau-Them, Frederic Tran, additional, Trimouille, Aurélien, additional, Van Gils, Julien, additional, Vanlerberghe, Clémence, additional, Vantalon, Valérie, additional, Vera, Gabriella, additional, Vincent, Marie, additional, Ziegler, Alban, additional, Guillin, Olivier, additional, Campion, Dominique, additional, and Charbonnier, Camille, additional
- Published
- 2023
- Full Text
- View/download PDF
29. A dominant vimentin variant causes a rare syndrome with premature aging
- Author
-
Cogné, Benjamin, Bouameur, Jamal-Eddine, Hayot, Gaëlle, Latypova, Xenia, Pattabiraman, Sundararaghavan, Caillaud, Amandine, Si-Tayeb, Karim, Besnard, Thomas, Küry, Sébastien, Chariau, Caroline, Gaignerie, Anne, David, Laurent, Bordure, Philippe, Kaganovich, Daniel, Bézieau, Stéphane, Golzio, Christelle, Magin, Thomas M., and Isidor, Bertrand
- Published
- 2020
- Full Text
- View/download PDF
30. Searching for secondary findings: considering actionability and preserving the right not to know
- Author
-
Isidor, Bertrand, Julia, Sophie, Saugier-Veber, Pascale, Weil-Dubuc, Paul-Loup, Bézieau, Stéphane, Bieth, Eric, Bonnefont, Jean-Paul, Munnich, Arnold, Bourdeaut, Franck, Bourgain, Catherine, Chassaing, Nicolas, Corradini, Nadège, Haye, Damien, Plaisancie, Julie, Dupin-Deguine, Delphine, Calvas, Patrick, Mignot, Cyril, Cogné, Benjamin, Manouvrier, Sylvie, Pasquier, Laurent, Héron, Delphine, Boycott, Kym M, Turrini, Mauro, Vears, Danya F., Nizon, Mathilde, and Vincent, Marie
- Published
- 2019
- Full Text
- View/download PDF
31. Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
- Author
-
Riquin, Kevin, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Colin, Estelle, Bonneau, Dominique, Pasquier, Laurent, Odent, Sylvie, Le Guillou Horn, Xavier Maximin, Le Guyader, Gwenaël, Toutain, Annick, Meyer, Vincent, Deleuze, Jean-François, Pichon, Olivier, Doco-Fenzy, Martine, Bézieau, Stéphane, and Cogné, Benjamin
- Abstract
Background Molecular diagnosis of neurodevelopmental disorders (NDDs) is mainly based on exome sequencing (ES), with a diagnostic yield of 31% for isolated and 53% for syndromic NDD. As sequencing costs decrease, genome sequencing (GS) is gradually replacing ES for genome-wide molecular testing. As many variants detected by GS only are in deep intronic or non-coding regions, the interpretation of their impact may be difficult. Here, we showed that integrating RNA-Seq into the GS workflow can enhance the analysis of the molecular causes of NDD, especially structural variants (SVs), by providing valuable complementary information such as aberrant splicing, aberrant expression and monoallelic expression. Methods We performed trio-GS on a cohort of 33 individuals with NDD for whom ES was inconclusive. RNA-Seq on skin fibroblasts was then performed in nine individuals for whom GS was inconclusive and optical genome mapping (OGM) was performed in two individuals with an SV of unknown significance. Results We identified pathogenic or likely pathogenic variants in 16 individuals (48%) and six variants of uncertain significance. RNA-Seq contributed to the interpretation in three individuals, and OGM helped to characterise two SVs. Conclusion Our study confirmed that GS significantly improves the diagnostic performance of NDDs. However, most variants detectable by GS alone are structural or located in non-coding regions, which can pose challenges for interpretation. Integration of RNA-Seq data overcame this limitation by confirming the impact of variants at the transcriptional or regulatory level. This result paves the way for new routinely applicable diagnostic protocols. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
32. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
- Author
-
Picketts, David, primary, Mirzaa, Ghayda, additional, Yan, Keqin, additional, Relator, Raissa, additional, Timpano, Sara, additional, Yalcin, Binnaz, additional, Collins, Stephan, additional, Ziegler, Alban, additional, Pao, Emily, additional, Oyama, Nora, additional, Brischoux-Boucher, Elise, additional, PIARD, Juliette, additional, Monaghan, Kristin, additional, Sacoto, Maria Guillen, additional, Dobyns, William, additional, Park, Kristen, additional, Fernández-Mayoralas, Daniel, additional, Fernández-Jaén, Alberto, additional, Jayakar, Parul, additional, Brusco, Alfredo, additional, Antona, Vincenzo, additional, Giorgio, Elisa, additional, Kvarnung, Malin, additional, Isidor, Bertrand, additional, Conrad, Solène, additional, Cogné, Benjamin, additional, Deb, Wallid, additional, Stuurman, K.E., additional, Sterbova, Katalin, additional, Smal, Noor, additional, Weckhuysen, Sarah, additional, Oegema, Renske, additional, Innes, Micheil, additional, Latsko, Maeson, additional, Ben-Omran, Tawfeg, additional, Yeh, Rebecca, additional, Kruer, Michael, additional, Bakhtiari, Somayeh, additional, Papavasiliou, Antigone, additional, Moutton, Sébastien, additional, Nambot, Sophie, additional, Chanprasert, Sirisak, additional, Paolucci, Sarah, additional, Miller, Kait, additional, Burton, Barbara, additional, Kim, Katherine, additional, O'Heir, Emily, additional, Bruwer, Zandre, additional, Donald, Kirsten, additional, Kleefstra, Tjitske, additional, Goldstein, Amy, additional, Angle, Brad, additional, Bontempo, Kelly, additional, Miny, Peter, additional, Joset, Pascal, additional, Demurger, Florence, additional, Hobson, Emma, additional, Pang, Lewis, additional, Carpenter, Lori, additional, Li, Dong, additional, Bonneau, Dominique, additional, and Sadikovic, Bekim, additional
- Published
- 2023
- Full Text
- View/download PDF
33. Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
- Author
-
Riquin, Kevin, primary, Isidor, Bertrand, additional, Mercier, Sandra, additional, Nizon, Mathilde, additional, Colin, Estelle, additional, Bonneau, Dominique, additional, Pasquier, Laurent, additional, Odent, Sylvie, additional, Le Guillou Horn, Xavier Maximin, additional, Le Guyader, Gwenaël, additional, Toutain, Annick, additional, Meyer, Vincent, additional, Deleuze, Jean-François, additional, Pichon, Olivier, additional, Doco-Fenzy, Martine, additional, Bézieau, Stéphane, additional, and Cogné, Benjamin, additional
- Published
- 2023
- Full Text
- View/download PDF
34. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
- Author
-
Ragge, Nicola, Isidor, Bertrand, Bitoun, Pierre, Odent, Sylvie, Giurgea, Irina, Cogné, Benjamin, Deb, Wallid, Vincent, Marie, Le Gall, Jessica, Morton, Jenny, Lim, Derek, DDD Study, Le Meur, Guylène, Zazo Seco, Celia, Zafeiropoulou, Dimitra, Bax, Dorine, Zwijnenburg, Petra, Arteche, Anara, Swafiri, Saoud Tahsin, Cleaver, Ruth, McEntagart, Meriel, Kini, Usha, Newman, William, Ayuso, Carmen, Corton, Marta, Herenger, Yvan, Jeanne, Médéric, Calvas, Patrick, and Chassaing, Nicolas
- Published
- 2019
- Full Text
- View/download PDF
35. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
- Author
-
Besnard, Thomas, Sloboda, Natacha, Goldenberg, Alice, Küry, Sébastien, Cogné, Benjamin, Breheret, Flora, Trochu, Eva, Conrad, Solène, Vincent, Marie, Deb, Wallid, Balguerie, Xavier, Barbarot, Sébastien, Baujat, Geneviève, Ben-Omran, Tawfeg, Bursztejn, Anne-Claire, Carmignac, Virginie, Datta, Alexandre N., Delignières, Aline, Faivre, Laurence, Gardie, Betty, Guéant, Jean-Louis, Kuentz, Paul, Lenglet, Marion, Nassogne, Marie-Cécile, Ramaekers, Vincent, Schnur, Rhonda E., Si, Yue, Torti, Erin, Thevenon, Julien, Vabres, Pierre, Van Maldergem, Lionel, Wand, Dorothea, Wiedemann, Arnaud, Cariou, Bertrand, Redon, Richard, Lamazière, Antonin, Bézieau, Stéphane, Feillet, Francois, and Isidor, Bertrand
- Published
- 2019
- Full Text
- View/download PDF
36. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
- Author
-
Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, DDD study, Devriendt, Koenraad, and Breckpot, Jeroen
- Published
- 2019
- Full Text
- View/download PDF
37. P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder
- Author
-
Bradbrook, Sam, Graham, Gail, Carter, Melissa, Kibaek, Maria, Larsen, Martin, Fagerberg, Christina, Dawson, Katherine, Meuter, Cheryl, Pepler, Alexander, Besnard, Thomas, Isidor, Bertrand, Bezieau, Stéphane, Cogné, Benjamin, Vincent, Marie, Bjorgo, Katherine, Courtin, Thomas, Emrick, Lisa, Rosenfeld, Jill, Network, Undiagnosed Diseases, Martinez-Agosto, Julian, Heulin, Mathilde, Morin, Gilles, Monin, Pauline, Januel, Louis, Bonnet-Dupeyron, Marie-Noëlle, Pujalte, Mathilde, Worley, Kim, Weisz-Hubshman, Monika, Dickson, Patricia, Thompson, Michelle, and Marcadier, Julien
- Published
- 2024
- Full Text
- View/download PDF
38. Loss-of-function variants inCUL3cause a syndromic neurodevelopmental disorder
- Author
-
Blackburn, Patrick R., primary, Ebstein, Frédéric, additional, Hsieh, Tzung-Chien, additional, Motta, Marialetizia, additional, Radio, Francesca Clementina, additional, Herkert, Johanna C., additional, Rinne, Tuula, additional, Thiffault, Isabelle, additional, Rapp, Michele, additional, Alders, Mariel, additional, Maas, Saskia, additional, Gerard, Bénédicte, additional, Smol, Thomas, additional, Vincent-Delorme, Catherine, additional, Cogné, Benjamin, additional, Isidor, Bertrand, additional, Vincent, Marie, additional, Bachmann-Gagescu, Ruxandra, additional, Rauch, Anita, additional, Joset, Pascal, additional, Ferrero, Giovanni Battista, additional, Ciolfi, Andrea, additional, Husson, Thomas, additional, Guerrot, Anne-Marie, additional, Bacino, Carlos, additional, Macmurdo, Colleen, additional, Thompson, Stephanie S., additional, Rosenfeld, Jill A., additional, Faivre, Laurence, additional, Mau-Them, Frederic Tran, additional, Deb, Wallid, additional, Vignard, Virginie, additional, Agrawal, Pankaj B., additional, Madden, Jill A., additional, Goldenberg, Alice, additional, Lecoquierre, François, additional, Zech, Michael, additional, Prokisch, Holger, additional, Necpál, Ján, additional, Jech, Robert, additional, Winkelmann, Juliane, additional, Koprušáková, Monika Turčanová, additional, Konstantopoulou, Vassiliki, additional, Younce, John R., additional, Shinawi, Marwan, additional, Mighton, Chloe, additional, Fung, Charlotte, additional, Morel, Chantal, additional, Ellis, Jordan Lerner-, additional, DiTroia, Stephanie, additional, Barth, Magalie, additional, Bonneau, Dominique, additional, Krapels, Ingrid, additional, Stegmann, Sander, additional, Schoot, Vyne van der, additional, Brunet, Theresa, additional, Bußmann, Cornelia, additional, Mignot, Cyril, additional, Courtin, Thomas, additional, Ravelli, Claudia, additional, Keren, Boris, additional, Ziegler, Alban, additional, Hasadsri, Linda, additional, Pichurin, Pavel N., additional, Klee, Eric W., additional, Grand, Katheryn, additional, Sanchez-Lara, Pedro A., additional, Krüger, Elke, additional, Bézieau, Stéphane, additional, Klinkhammer, Hannah, additional, Krawitz, Peter Michael, additional, Eichler, Evan E., additional, Tartaglia, Marco, additional, Küry, Sébastien, additional, and Wang, Tianyun, additional
- Published
- 2023
- Full Text
- View/download PDF
39. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
- Author
-
Ebstein, Frédéric, primary, Küry, Sébastien, additional, Most, Victoria, additional, Rosenfelt, Cory, additional, Scott-Boyer, Marie-Pier, additional, van Woerden, Geeske M., additional, Besnard, Thomas, additional, Papendorf, Jonas Johannes, additional, Studencka-Turski, Maja, additional, Wang, Tianyun, additional, Hsieh, Tzung-Chien, additional, Golnik, Richard, additional, Baldridge, Dustin, additional, Forster, Cara, additional, de Konink, Charlotte, additional, Teurlings, Selina M.W., additional, Vignard, Virginie, additional, van Jaarsveld, Richard H., additional, Ades, Lesley, additional, Cogné, Benjamin, additional, Mignot, Cyril, additional, Deb, Wallid, additional, Jongmans, Marjolijn C.J., additional, Cole, F. Sessions, additional, van den Boogaard, Marie-José H., additional, Wambach, Jennifer A., additional, Wegner, Daniel J., additional, Yang, Sandra, additional, Hannig, Vickie, additional, Brault, Jennifer Ann, additional, Zadeh, Neda, additional, Bennetts, Bruce, additional, Keren, Boris, additional, Gélineau, Anne-Claire, additional, Powis, Zöe, additional, Towne, Meghan, additional, Bachman, Kristine, additional, Seeley, Andrea, additional, Beck, Anita E., additional, Morrison, Jennifer, additional, Westman, Rachel, additional, Averill, Kelly, additional, Brunet, Theresa, additional, Haasters, Judith, additional, Carter, Melissa T., additional, Osmond, Matthew, additional, Wheeler, Patricia G., additional, Forzano, Francesca, additional, Mohammed, Shehla, additional, Trakadis, Yannis, additional, Accogli, Andrea, additional, Harrison, Rachel, additional, Guo, Yiran, additional, Hakonarson, Hakon, additional, Rondeau, Sophie, additional, Baujat, Geneviève, additional, Barcia, Giulia, additional, Feichtinger, René Günther, additional, Mayr, Johannes Adalbert, additional, Preisel, Martin, additional, Laumonnier, Frédéric, additional, Kallinich, Tilmann, additional, Knaus, Alexej, additional, Isidor, Bertrand, additional, Krawitz, Peter, additional, Völker, Uwe, additional, Hammer, Elke, additional, Droit, Arnaud, additional, Eichler, Evan E., additional, Elgersma, Ype, additional, Hildebrand, Peter W., additional, Bolduc, François, additional, Krüger, Elke, additional, and Bézieau, Stéphane, additional
- Published
- 2023
- Full Text
- View/download PDF
40. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
- Author
-
Blackburn, Patrick R., Ebstein, Frédéric, Hsieh, Tzung-Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C., Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Bénédicte, Smol, Thomas, Vincent-Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne-Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S., Rosenfeld, Jill A., Faivre, Laurence, Mau-Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B., Madden, Jill A., Goldenberg, Alice, Lecoquierre, François, Zech, Michael, Prokisch, Holger, Necpál, Ján, Jech, Robert, Winkelmann, Juliane, Koprušáková, Monika Turčanová, Konstantopoulou, Vassiliki, Younce, John R., Shinawi, Marwan, Mighton, Chloe, Fung, Charlotte, Morel, Chantal, Ellis, Jordan Lerner, DiTroia, Stephanie, Barth, Magalie, Bonneau, Dominique, Krapels, Ingrid, Stegmann, Sander, van der Schoot, Vyne, Brunet, Theresa, Bußmann, Cornelia, Mignot, Cyril, Courtin, Thomas, Ravelli, Claudia, Keren, Boris, Ziegler, Alban, Hasadsri, Linda, Pichurin, Pavel N., Klee, Eric W., Grand, Katheryn, Sanchez-Lara, Pedro A., Krüger, Elke, Bézieau, Stéphane, Klinkhammer, Hannah, Krawitz, Peter Michael, Eichler, Evan E., Tartaglia, Marco, Küry, Sébastien, and Wang, Tianyun
- Subjects
Article - Abstract
PURPOSE: De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism. METHODS: Genetic data and detailed clinical records were collected via multi-center collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient-derived T-cells. RESULTS: We assembled a cohort of 35 individuals with heterozygous CUL3 variants presenting a syndromic NDD characterized by intellectual disability with or without autistic features. Of these, 33 have loss-of-function (LoF) and two have missense variants. CUL3 LoF variants in patients may affect protein stability leading to perturbations in protein homeostasis, as evidenced by decreased ubiquitin-protein conjugates in vitro . Specifically, we show that cyclin E1 (CCNE1) and 4E-BP1 (EIF4EBP1), two prominent substrates of CUL3, fail to be targeted for proteasomal degradation in patient-derived cells. CONCLUSION: Our study further refines the clinical and mutational spectrum of CUL3 -associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism.
- Published
- 2023
41. Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy
- Author
-
Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertrand, Heron, Delphine, Milh, Mathieu, Rondeau, Stéphane, Michot, Caroline, Valence, Stephanie, Wagner, Sabrina, Hully, Marie, Mignot, Cyril, Masurel, Alice, Datta, Alexandre, Odent, Sylvie, Nizon, Mathilde, Lazaro, Leila, Vincent, Marie, Cogné, Benjamin, Guerrot, Anne Marie, Arpin, Stéphanie, Pedespan, Jean Michel, Caubel, Isabelle, Pontier, Benedicte, Troude, Baptiste, Rivier, Francois, Philippe, Christophe, Bienvenu, Thierry, Spitz, Marie-Aude, Bery, Amandine, and Bahi-Buisson, Nadia
- Published
- 2018
- Full Text
- View/download PDF
42. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
- Author
-
Caengprasath, Natarin, Nizon, Mathilde, Panchaprateep, Ratchathorn, Cogne, Benjamin, Cuinat, Silvestre, Auburt, Hélène, Jonca, Nathalie, Porntaveetus, Thantrira, and Shotelersuk, Vorasuk
- Published
- 2023
- Full Text
- View/download PDF
43. Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
- Author
-
Colin, Estelle, primary, Duffourd, Yannis, additional, Chevarin, Martin, additional, Tisserant, Emilie, additional, Verdez, Simon, additional, Paccaud, Julien, additional, Bruel, Ange-Line, additional, Tran Mau-Them, Frédéric, additional, Denommé-Pichon, Anne-Sophie, additional, Thevenon, Julien, additional, Safraou, Hana, additional, Besnard, Thomas, additional, Goldenberg, Alice, additional, Cogné, Benjamin, additional, Isidor, Bertrand, additional, Delanne, Julian, additional, Sorlin, Arthur, additional, Moutton, Sébastien, additional, Fradin, Mélanie, additional, Dubourg, Christèle, additional, Gorce, Magali, additional, Bonneau, Dominique, additional, El Chehadeh, Salima, additional, Debray, François-Guillaume, additional, Doco-Fenzy, Martine, additional, Uguen, Kevin, additional, Chatron, Nicolas, additional, Aral, Bernard, additional, Marle, Nathalie, additional, Kuentz, Paul, additional, Boland, Anne, additional, Olaso, Robert, additional, Deleuze, Jean-François, additional, Sanlaville, Damien, additional, Callier, Patrick, additional, Philippe, Christophe, additional, Thauvin-Robinet, Christel, additional, Faivre, Laurence, additional, and Vitobello, Antonio, additional
- Published
- 2023
- Full Text
- View/download PDF
44. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
- Author
-
Blackburn, Patrick R, Ebstein, Frédéric, Hsieh, Tzung-Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C, Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gérard, Bénédicte, Smol, Thomas, Vincent-Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne-Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S, Rosenfeld, Jill A, Faivre, Laurence, Mau-Them, Frederic Tran, et al, and University of Zurich
- Subjects
Genomic Medicine ,10039 Institute of Medical Genetics ,570 Life sciences ,biology ,610 Medicine & health ,10124 Institute of Molecular Life Sciences ,Genetic Medicine - Published
- 2023
- Full Text
- View/download PDF
45. Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis
- Author
-
Ghesh, Leïla, primary, Désir, Julie, additional, Haye, Damien, additional, Le Tanno, Pauline, additional, Devillard, Françoise, additional, Cogné, Benjamin, additional, Marangoni, Martina, additional, Tecco, Laura, additional, Heron, Delphine, additional, Le Vaillant, Claudine, additional, Joubert, Madeleine, additional, and Beneteau, Claire, additional
- Published
- 2022
- Full Text
- View/download PDF
46. Delineation of the clinical profile ofCNOT2haploinsufficiency and overview of the IDNADFS phenotype
- Author
-
Niceta, Marcello, primary, Pizzi, Simone, additional, Inzana, Francesca, additional, Peron, Angela, additional, Bakhtiari, Somayeh, additional, Nizon, Mathilde, additional, Levy, Jonathan, additional, Mancini, Cecilia, additional, Cogné, Benjamin, additional, Radio, Francesca Clementina, additional, Agolini, Emanuele, additional, Cocciadiferro, Dario, additional, Novelli, Antonio, additional, Salih, Mustafa A., additional, Recalcati, Maria Paola, additional, Arancio, Rosangela, additional, Besnard, Marianne, additional, Tabet, Anne‐Claude, additional, Kruer, Michael C., additional, Priolo, Manuela, additional, Dallapiccola, Bruno, additional, and Tartaglia, Marco, additional
- Published
- 2022
- Full Text
- View/download PDF
47. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
- Author
-
Palmer, Elizabeth E., primary, Pusch, Michael, additional, Picollo, Alessandra, additional, Forwood, Caitlin, additional, Nguyen, Matthew H., additional, Suckow, Vanessa, additional, Gibbons, Jessica, additional, Hoff, Alva, additional, Sigfrid, Lisa, additional, Megarbane, Andre, additional, Nizon, Mathilde, additional, Cogné, Benjamin, additional, Beneteau, Claire, additional, Alkuraya, Fowzan S., additional, Chedrawi, Aziza, additional, Hashem, Mais O., additional, Stamberger, Hannah, additional, Weckhuysen, Sarah, additional, Vanlander, Arnaud, additional, Ceulemans, Berten, additional, Rajagopalan, Sulekha, additional, Nunn, Kenneth, additional, Arpin, Stéphanie, additional, Raynaud, Martine, additional, Motter, Constance S., additional, Ward-Melver, Catherine, additional, Janssens, Katrien, additional, Meuwissen, Marije, additional, Beysen, Diane, additional, Dikow, Nicola, additional, Grimmel, Mona, additional, Haack, Tobias B., additional, Clement, Emma, additional, McTague, Amy, additional, Hunt, David, additional, Townshend, Sharron, additional, Ward, Michelle, additional, Richards, Linda J., additional, Simons, Cas, additional, Costain, Gregory, additional, Dupuis, Lucie, additional, Mendoza-Londono, Roberto, additional, Dudding-Byth, Tracy, additional, Boyle, Jackie, additional, Saunders, Carol, additional, Fleming, Emily, additional, El Chehadeh, Salima, additional, Spitz, Marie-Aude, additional, Piton, Amelie, additional, Gerard, Bénédicte, additional, Abi Warde, Marie-Thérèse, additional, Rea, Gillian, additional, McKenna, Caoimhe, additional, Douzgou, Sofia, additional, Banka, Siddharth, additional, Akman, Cigdem, additional, Bain, Jennifer M., additional, Sands, Tristan T., additional, Wilson, Golder N., additional, Silvertooth, Erin J., additional, Miller, Lauren, additional, Lederer, Damien, additional, Sachdev, Rani, additional, Macintosh, Rebecca, additional, Monestier, Olivier, additional, Karadurmus, Deniz, additional, Collins, Felicity, additional, Carter, Melissa, additional, Rohena, Luis, additional, Willemsen, Marjolein H., additional, Ockeloen, Charlotte W., additional, Pfundt, Rolph, additional, Kroft, Sanne D., additional, Field, Michael, additional, Laranjeira, Francisco E. R., additional, Fortuna, Ana M., additional, Soares, Ana R., additional, Michaud, Vincent, additional, Naudion, Sophie, additional, Golla, Sailaja, additional, Weaver, David D., additional, Bird, Lynne M., additional, Friedman, Jennifer, additional, Clowes, Virginia, additional, Joss, Shelagh, additional, Pölsler, Laura, additional, Campeau, Philippe M., additional, Blazo, Maria, additional, Bijlsma, Emilia K., additional, Rosenfeld, Jill A., additional, Beetz, Christian, additional, Powis, Zöe, additional, McWalter, Kirsty, additional, Brandt, Tracy, additional, Torti, Erin, additional, Mathot, Mikaël, additional, Mohammad, Shekeeb S., additional, Armstrong, Ruth, additional, and Kalscheuer, Vera M., additional
- Published
- 2022
- Full Text
- View/download PDF
48. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
- Author
-
Thomas, Quentin, primary, Motta, Marialetizia, additional, Gautier, Thierry, additional, Zaki, Maha S., additional, Ciolfi, Andrea, additional, Paccaud, Julien, additional, Girodon, François, additional, Boespflug-Tanguy, Odile, additional, Besnard, Thomas, additional, Kerkhof, Jennifer, additional, McConkey, Haley, additional, Masson, Aymeric, additional, Denommé-Pichon, Anne-Sophie, additional, Cogné, Benjamin, additional, Trochu, Eva, additional, Vignard, Virginie, additional, El It, Fatima, additional, Rodan, Lance H., additional, Alkhateeb, Mohammad Ayman, additional, Jamra, Rami Abou, additional, Duplomb, Laurence, additional, Tisserant, Emilie, additional, Duffourd, Yannis, additional, Bruel, Ange-Line, additional, Jackson, Adam, additional, Banka, Siddharth, additional, McEntagart, Meriel, additional, Saggar, Anand, additional, Gleeson, Joseph G., additional, Sievert, David, additional, Bae, Hyunwoo, additional, Lee, Beom Hee, additional, Kwon, Kisang, additional, Seo, Go Hun, additional, Lee, Hane, additional, Saeed, Anjum, additional, Anjum, Nadeem, additional, Cheema, Huma, additional, Alawbathani, Salem, additional, Khan, Imran, additional, Pinto-Basto, Jorge, additional, Teoh, Joyce, additional, Wong, Jasmine, additional, Sahari, Umar Bin Mohamad, additional, Houlden, Henry, additional, Zhelcheska, Kristina, additional, Pannetier, Melanie, additional, Awad, Mona A., additional, Lesieur-Sebellin, Marion, additional, Barcia, Giulia, additional, Amiel, Jeanne, additional, Delanne, Julian, additional, Philippe, Christophe, additional, Faivre, Laurence, additional, Odent, Sylvie, additional, Bertoli-Avella, Aida, additional, Thauvin, Christel, additional, Sadikovic, Bekim, additional, Reversade, Bruno, additional, Maroofian, Reza, additional, Govin, Jérôme, additional, Tartaglia, Marco, additional, and Vitobello, Antonio, additional
- Published
- 2022
- Full Text
- View/download PDF
49. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
- Author
-
Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, and Stankiewicz, Paweł
- Published
- 2017
- Full Text
- View/download PDF
50. P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*
- Author
-
Boone, Philip, Faour, Kamli, Mohajeri, Kiana, Lemanski, John, Jana, Bimal, Fu, Jack, Kerkhof, Jennifer, McConkey, Haley, Collins, Ryan, Lucente, Diane, de Esch, Celine, Moysés-Oliveira, Mariana, Nuttle, Alexander, Domingo, Aloysius, Erdin, Serkan, Hanley, Maris, Watt, Amy, Surette, Eric, Lima, Gloria, Smith, Laura, Salani, Monica, Yadav, Rachita, Harripaul, Ricardo, O’Keefe, Kathryn, Burt, Nicholas, Larson, Matthew, Bhavsar, Riya, Currall, Benjamin, Sell, Susan, Ladda, Roger, Immken, LaDonna, Buchanan, Catherine, Yuan, Bo, Lynch, Sally, Gilissen, Christian, Pfundt, Rolph, Ockeloen, Charlotte, Kleefstra, Tjitske, Vanhoutte, Els, Sinnema, Margje, Stegmann, Sander, Stevens, Servi, Iascone, Maria, Maitz, Silvia, Cogne, Benjamin, Le Caignec, Cedric, Vincent, Marie, Nizon, Mathilde, Male, Alison, Agrawal, Pankaj, Thompson, Michelle, Torring, Pernille, Brasch-Andersen, Charlotte, Faivre, Laurence, Bruel, Ange-Line, Isidor, Bertrand, Philippe, Christophe, Morleo, Manuela, Wojcik, Monica, Genetti, Casie, Srivastava, Siddharth, Ballal, Sonia, Schließke, Sophia, Jamra, Rami Abou, Delahaye, Andree, von Wintzingerode, Lydia, Bothe, Viktoria, Houlier, Marine, Stout, Timothy, Bergant, Gaber, Peterlin, Borut, Moldovan, Oana, Martínez-Gil, Núria, Argilli, Emanuela, Sherr, Elliott, Harel, Tamar, Rosenberg-Fogler, Hallel, Rosenfeld, Jill, Wentzensen, Ingrid, Westphal, Dominik, Riedhammer, Korbinian, Orec, Laura, Gusella, James, Sadikovic, Bekim, Tai, Derek, and Talkowski, Michael
- Published
- 2023
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.