Lesch-Nyhan Syndrome: Models, Theories, and Therapies
Bell, Scott, Kolobova, Ilaria, Crapper, Liam, Ernst, Carl
Published in Molecular syndromology (01.11.2016)
Published in Molecular syndromology (01.11.2016)
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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells
Bell, Scott, McCarty, Vincent, Peng, Huashan, Jefri, Malvin, Hettige, Nuwan, Antonyan, Lilit, Crapper, Liam, O'Leary, Liam A., Zhang, Xin, Zhang, Ying, Wu, Hanrong, Sutcliffe, Diane, Kolobova, Ilaria, Rosenberger, Thad A., Moquin, Luc, Gratton, Alain, Popic, Jelena, Gantois, Ilse, Stumpf, Patrick S., Schuppert, Andreas A., Mechawar, Naguib, Sonenberg, Nahum, Tremblay, Michel L., Jinnah, Hyder A., Ernst, Carl
Published in Stem cell reports (13.07.2021)
Published in Stem cell reports (13.07.2021)
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A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing
Bell, Scott, Peng, Huashan, Crapper, Liam, Kolobova, Ilaria, Maussion, Gilles, Vasuta, Cristina, Yerko, Volodymyr, Wong, Tak Pan, Ernst, Carl
Published in Stem cells translational medicine (01.03.2017)
Published in Stem cells translational medicine (01.03.2017)
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Implication of LRRC4C and DPP6 in neurodevelopmental disorders
Maussion, Gilles, Cruceanu, Cristiana, Rosenfeld, Jill A., Bell, Scott C., Jollant, Fabrice, Szatkiewicz, Jin, Collins, Ryan L., Hanscom, Carrie, Kolobova, Ilaria, de Champfleur, Nicolas Menjot, Blumenthal, Ian, Chiang, Colby, Ota, Vanessa, Hultman, Christina, O'Dushlaine, Colm, McCarroll, Steve, Alda, Martin, Jacquemont, Sebastien, Ordulu, Zehra, Marshall, Christian R., Carter, Melissa T., Shaffer, Lisa G., Sklar, Pamela, Girirajan, Santhosh, Morton, Cynthia C., Gusella, James F., Turecki, Gustavo, Stavropoulos, Dimitri J., Sullivan, Patrick F., Scherer, Stephen W., Talkowski, Michael E., Ernst, Carl
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Cover Image, Volume 173A, Number 2, February 2017
Maussion, Gilles, Cruceanu, Cristiana, Rosenfeld, Jill A., Bell, Scott C., Jollant, Fabrice, Szatkiewicz, Jin, Collins, Ryan L., Hanscom, Carrie, Kolobova, Ilaria, de Champfleur, Nicolas Menjot, Blumenthal, Ian, Chiang, Colby, Ota, Vanessa, Hultman, Christina, O'Dushlaine, Colm, McCarroll, Steve, Alda, Martin, Jacquemont, Sebastien, Ordulu, Zehra, Marshall, Christian R., Carter, Melissa T., Shaffer, Lisa G., Sklar, Pamela, Girirajan, Santhosh, Morton, Cynthia C., Gusella, James F., Turecki, Gustavo, Stavropoulos, Dimitri J., Sullivan, Patrick F., Scherer, Stephen W., Talkowski, Michael E., Ernst, Carl
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Journal Article