Search Results - Alissa M. D’Gama
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Brain somatic mosaicism in epilepsy: Bringing results back to the clinic by Alissa M. D’Gama, Annapurna Poduri
Published 2023Revisão -
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Somatic mutation in single human neurons tracks developmental and transcriptional history by Michael A. Lodato, Mollie B. Woodworth, Semin Lee, Gilad D. Evrony, Bhaven K. Mehta, Amir Karger, Soohyun Lee, Thomas W. Chittenden, Alissa M. D’Gama, Xuyu Cai, Lovelace J. Luquette, Eunjung Lee, Peter J. Park, Christopher A. Walsh
Published 2015Artigo -
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Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies by Lance H. Rodan, Marissa Hauptman, Alissa M. D’Gama, Anita Qualls, Siqi Cao, Karin Tuschl, Fatma Al‐Jasmi, Jozef Hertecant, Susan J. Hayflick, Marianne Wessling‐Resnick, Edward Yang, Gerard T. Berry, Andrea Gropman, Alan D. Woolf, Pankaj B. Agrawal
Published 2018Artigo -
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Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia by Alissa M. D’Gama, Ying Geng, Javier Couto, Beth Martin, Evan A. Boyle, Christopher M. LaCoursiere, Amer A. Hossain, Nicole E. Hatem, Brenda J. Barry, David J. Kwiatkowski, Harry V. Vinters, A. James Barkovich, Jay Shendure, Gary W. Mathern, Christopher A. Walsh, Annapurna Poduri
Published 2015Artigo -
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Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias by Alissa M. D’Gama, Mollie B. Woodworth, Amer A. Hossain, Sara Bizzotto, Nicole E. Hatem, Christopher M. LaCoursiere, Imad Najm, Ying Zhong, Edward Yang, A. James Barkovich, David J. Kwiatkowski, Harry V. Vinters, Joseph R. Madsen, Gary W. Mathern, Ingmar Blümcke, Annapurna Poduri, Christopher A. Walsh
Published 2017Artigo -
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Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants by Alissa M. D’Gama, H. Westley Phillips, Yilan Wang, Michelle Chiu, Yasmine Chahine, Amanda Cantu Swanson, Richard S Smith, Phillip L. Pearl, Melissa Tsuboyama, Joseph R. Madsen, Hart G.W. Lidov, Eunjung Alice Lee, Sanjay P. Prabhu, August Yue Huang, Scellig Stone, Christopher A. Walsh, Annapurna Poduri
Published 2025Artigo -
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Biallelic mutations in human DCC cause developmental split-brain syndrome by Saumya Shekhar Jamuar, Klaus Schmitz‐Abe, Alissa M. D’Gama, Marie Drottar, Wai‐Man Chan, Maya Peeva, Sarah Servattalab, Anh-Thu N. Lam, Mauricio R. Delgado, Nancy J. Clegg, Zayed Al Zayed, Mohammad Asif Dogar, Ibrahim A. Alorainy, Abdullah Abu Jamea, Khaled K. Abu‐Amero, May L. Griebel, Wendy L. Ward, Ed S. Lein, Kyriacos Markianos, A. James Barkovich, Caroline D. Robson, P. Ellen Grant, Thomas M. Bosley, Elizabeth C. Engle, Christopher A. Walsh, Timothy W. Yu
Published 2017Artigo -
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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder by Elaine T. Lim, Mohammed Uddin, Silvia De Rubeis, Yingleong Chan, A. Stacy Kamumbu, Xiaochang Zhang, Alissa M. D’Gama, Sonia N. Kim, Robert Hill, Arthur P. Goldberg, Christopher S. Poultney, Nancy J. Minshew, Itaru Kushima, Branko Aleksić, Norio Ozaki, Mara Parellada, Celso Arango, María José Penzol, Ãngel Carracedo, Alexander Kolevzon, Christina M. Hultman, Lauren A. Weiss, Menachem Fromer, Andreas G. Chiocchetti, Christine M. Freitag, George M. Church, Stephen W. Scherer, Joseph D. Buxbaum, Christopher A. Walsh
Published 2017Artigo -
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Somatic Mutations in Cerebral Cortical Malformations by Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D’Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topçu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Şahin, Bernard S. Chang, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh
Published 2014Artigo -
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Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort stu... by Alissa M. D’Gama, Sarah Mulhern, Beth Rosen Sheidley, Fadil Boodhoo, Sarah Buts, Natalie Chandler, Joanna Cobb, Meredith Curtis, Edward J. Higginbotham, Jonathon Holland, Tayyaba Khan, Julia Koh, Nicole Si Yan Liang, Lyndsey McRae, Sarah E Nesbitt, Brandon T. Oby, Ben Paternoster, Alistair Patton, Graham Rose, Elizabeth Scotchman, Rozalia Valentine, Kimberly Wiltrout, Robin Z. Hayeems, Puneet Jain, Sebastian Lunke, Christian R. Marshall, Shira Rockowitz, Neil J. Sebire, Zornitza Stark, Susan M. White, Lyn S. Chitty, J. Helen Cross, Ingrid E. Scheffer, Vann Chau, Gregory Costain, Annapurna Poduri, Katherine B. Howell, Amy McTague
Published 2023Artigo -
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The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing by Rachel E. Rodin, Yanmei Dou, Minseok Kwon, Maxwell A. Sherman, Alissa M. D’Gama, Ryan N. Doan, Lariza M. Rento, Kelly M. Girskis, Craig L. Bohrson, Sonia N. Kim, Ajay Nadig, Lovelace J. Luquette, D. Gulhan, Christopher A. Walsh, Javier Ganz, Mollie B. Woodworth, Pengpeng Li, Rachel E. Rodin, Robert Hill, Sara Bizzotto, Zinan Zhou, Eunjung A. Lee, Alison R. Barton, Alissa M. D’Gama, Alon Galor, Craig L. Bohrson, Daniel H. Kwon, D. Gulhan, Elaine T. Lim, Isidro Cortes, Lovelace J. Luquette, Maxwell A. Sherman, Michael E. Coulter, Michael A. Lodato, Peter J. Park, Rebeca B. Monroy, Sonia N. Kim, Yanmei Dou, Andrew Chess, Attila Gulyás-Kovács, Chaggai Rosenbluh, Schahram Akbarian, Ben Langmead, Jeremy Thorpe, Jonathan Pevsner, Soonweng Cho, Andrew E. Jaffe, Apuã C.M. Paquola, Daniel R. Weinberger, Jennifer A. Erwin, Jooheon Shin, Richard E. Straub, Rujuta Narurkar, Alexej Abyzov, Taejeong Bae, Anjené Addington, David M. Panchision, Yanmei Dou, Geetha Senthil, Lora Bingaman, Tara Dutka, Thomas Lehner, Laura Saucedo-Cuevas, Tara Conniff, Kenneth Daily, Mette A. Peters, Fred H. Gage, Meiyan Wang, Patrick Reed, Sara B. Linker, Alex E. Urban, Bo Zhou, Xiaowei Zhu, Aitor Serres, David Juan, Inna Povolotskaya, Irene Lobón, Manuel Solís-Moruno, Raquel García-Pérez, Tomàs Marquès‐Bonet, Gary W. Mathern, Jing Gu, Joseph G. Gleeson, Laurel Ball, Renee D. George, Tiziano Pramparo, Diane A. Flasch, Trenton J. Frisbie, Jeffrey M. Kidd, John B. Moldovan, John V. Moran, Kenneth Y. Kwan, Ryan E. Mills, Sarah B. Emery, Weichen Zhou, Yifan Wang, Aakrosh Ratan, Michael J. McConnell, Flora M. Vaccarino, Gianfilippo Coppola
Published 2021Artigo -
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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism by Timothy W. Yu, Maria H. Chahrour, Michael E. Coulter, Sarn Jiralerspong, Kazuko Okamura‐Ikeda, Bulent Ataman, Klaus Schmitz‐Abe, David A. Harmin, Mazhar Adli, Athar N. Malik, Alissa M. D’Gama, Elaine T. Lim, Stephan Sanders, Ganeshwaran H. Mochida, Jennifer N. Partlow, Christine Sunu, Jillian M. Felie, Jacqueline Rodriguez, Ramzi H. Nasir, Janice Ware, Robert M. Joseph, R. Sean Hill, Benjamin Y. M. Kwan, Muna Al‐Saffar, Nahit Motavallı Mukaddes, Asif Hashmi, Soher Balkhy, Generoso G. Gascon, Fuki M. Hisama, Elaine LeClair, Annapurna Poduri, Özgür Öner, Samira Al-Saad, S A Al-Awadi, Lailá Bastaki, Tawfeg Ben‐Omran, Ahmad S. Teebi, Lihadh Al‐Gazali, Valsamma Eapen, Christine Stevens, Leonard Rappaport, Stacey Gabriel, Kyriacos Markianos, Matthew W. State, Michael E. Greenberg, Hisaaki Taniguchi, Nancy Braverman, Eric M. Morrow, Christopher A. Walsh
Published 2013Artigo -
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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder by Gazelle Zerafati‐Jahromi, Elias Oxman, Hieu D. Hoang, Wu‐Lin Charng, Tanvitha Kotla, Weimin Yuan, Kenichi Ishibashi, Sonia Sebaoui, Kathryn Luedtke, Bryce Winrow, Rebecca Ganetzky, Anna Ruiz, Carmen Manso-Basúz, Nino Spataro, Pekka Kannus, Taryn Athey, Christina Peroutka, Caitlin Barnes, Richard Sidlow, George Anadiotis, Kari Magnussen, Irene Valenzuela, Alejandro Moles‐Fernández, Seth Berger, Christina Grant, Éric Vilain, Gudny A. Arnadottir, Patrick Sulem, Telma Sulem, Kāri Stefánsson, Shavonne L. Massey, Natalie Ginn, Annapurna Poduri, Alissa M. D’Gama, Rozalia Valentine, Sara Trowbridge, Chaya N. Murali, Rachel Franciskovich, Thi Hai Yen Tran, Bryn D. Webb, Kim M. Keppler‐Noreuil, April Hall, Bobbi McGivern, Kristin G. Monaghan, Maria J. Guillen Sacoto, Dustin Baldridge, Gary A. Silverman, Sonika Dahiya, Tychele N. Turner, Tim Schedl, Jackie D. Corbin, Stephen C. Pak, Irene E. Zohn, Christina A. Gurnett
Published 2025Artigo -
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Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy by Hyun Yong Koh, Lacey Smith, Kimberly Wiltrout, Archana Podury, Nitish Chourasia, Alissa M. D’Gama, Meredith Park, Devon Knight, Emma Sexton, Julia Koh, Brandon T. Oby, Rebecca Pinsky, Diane D. Shao, Courtney E. French, Wanqing Shao, Shira Rockowitz, Piotr Sliz, Bo Zhang, Sonal Mahida, Christelle Moufawad El Achkar, Christopher J. Yuskaitis, Heather E. Olson, Beth Rosen Sheidley, Annapurna Poduri, Elizabeth Barkoudah, Ann M. Bergin, Miya E. Bernson‐Leung, Elizabeth Binney, Jeffrey Bolton, Stephanie Donatelli, Darius Ebrahimi‐Fakhari, Mark Gorman, Chellamani Harini, Divya Jayaraman, Agnieszka Kielian, Lauren LaFortune, Kerri L. LaRovere, Mark H. Libenson, David N. Lieberman, Tobias Loddenkemper, Candice Marti, Anna Minster, Kate Mysak, Ann Paris, Archana A. Patel, Phillip L. Pearl, Jurriaan M. Peters, A Gomes Pinto, Peter Raffalli, Alexander Rotenberg, Catherine L. Salussolia, Rebecca Sarvendram, Hannah Shapiro, Janet S. Soul, Sarah Spence, Karen Spencer, Robert C. Stowe, Coral M. Stredny, Masanori Takeoka, Molly Tracy, Sara Trowbridge, Melissa Tsuboyama, David K. Urion
Published 2023Artigo -
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Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network by Michael J. McConnell, John V. Moran, Alexej Abyzov, Schahram Akbarian, Taejeong Bae, Isidro Cortés‐Ciriano, Jennifer A. Erwin, Liana Fasching, Diane A. Flasch, Donald Freed, Javier Ganz, Andrew E. Jaffe, Kenneth Y. Kwan, Min‐Seok Kwon, Michael A. Lodato, Ryan E. Mills, Apuã C.M. Paquola, Rachel E. Rodin, Chaggai Rosenbluh, Nenad Šestan, Maxwell A. Sherman, Joo Heon Shin, Saera Song, Richard E. Straub, Jeremy Thorpe, Daniel R. Weinberger, Alexander E. Urban, Bo Zhou, Fred H. Gage, Thomas Lehner, Geetha Senthil, Christopher A. Walsh, Andrew Chess, Eric Courchesne, Joseph G. Gleeson, Jeffrey M. Kidd, Peter J. Park, Jonathan Pevsner, Flora M. Vaccarino, Alison R. Barton, Stefan Bekiranov, Craig L. Bohrson, Ian Burbulis, William D. Chronister, Gianfilippo Coppola, Kenneth Daily, Alissa M. D’Gama, Sarah B. Emery, Trenton J. Frisbie, Tianliuyun Gao, Attila Gulyás-Kovács, Mark F. Haakenson, Jason M. Keil, Huira C. Kopera, Mandy M. Lam, Eunjung Alice Lee, Tomàs Marquès‐Bonet, Gary W. Mathern, John B. Moldovan, Matthew T. Oetjens, Larsson Omberg, Mette A. Peters, Sirisha Pochareddy, Tiziano Pramparo, Aakrosh Ratan, Tiziana Sanavia, Lei Shi, Mario Škarica, Jia Wang, Meiyan Wang, Yifan Wang, Margaret E. Wierman, Matthew J. Wolpert, Mollie B. Woodworth, Xuefang Zhao, Weichen Zhou
Published 2017Revisão -
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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption by Caroline Nava, Benjamin Cogné, A. Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kévin Uguen, Konrad Platzer, Alexandra Afenjar, Jean‐Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoı̂t Arveiler, Tania Attié‐Bitach, Marion Aubert‐Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Bénéteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux‐Boucher, Samantha J. Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M. D’Gama, Benjamin Dauriat, Jean‐Madeleine de Sainte Agathe, Giulia Gobbo, Andrée Delahaye‐Duriez, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Anne Dieux‐Coëslier, Laura Do Souto Ferreira, Martine Doco‐Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David A. Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hilde Fischer, Mélanie Fradin, Cédric Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce‐Samar, Alice Goldenberg, R. Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M. Greally, Bianca Greiten, Paul Gueguen, Anne‐Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz
Published 2025Artigo -
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Somatic mosaicism reveals clonal distributions of neocortical development by Martin W. Breuss, Xiaoxu Yang, Johannes C. M. Schlachetzki, Danny Antaki, Addison J. Lana, Xin Xu, Changuk Chung, Guoliang Chai, Valentina Stanley, Qiong Song, Traci Fang Newmeyer, An T. Nguyen, S O'Brien, Marten A. Hoeksema, Beibei Cao, Alexi Nott, Jennifer McEvoy‐Venneri, Martina P. Pasillas, Scott T. Barton, Brett Copeland, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, Joseph G. Gleeson, Martin W. Breuss, Xiaoxu Yang, Danny Antaki, Changuk Chung, Dan Averbuj, Eric Courchesne, Laurel Ball, Subhojit Roy, Daniel R. Weinberger, Andrew E. Jaffe, Apuã C.M. Paquola, Jennifer A. Erwin, Jooheon Shin, Michael J. McConnell, Richard E. Straub, Rujuta Narurkar, Gary W. Mathern, Christopher A. Walsh, Alice Lee, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Eduardo A. Maury, Javier Ganz, Michael A. Lodato, Michael B. Miller, Pengpeng Li, Rachel E. Rodin, Rebeca Borges-Monroy, Robert Hill, Sara Bizzotto, Sattar Khoshkhoo, Sonia Kim, Zinan Zhou, Peter J. Park, Alison R. Barton, Alon Galor, Chong Chu, Craig L. Bohrson, D. Gulhan, Elaine T. Lim, Eun‐Cheon Lim, Giorgio Melloni, Isidro Cortes, Jake Lee, Joe Luquette, Lixing Yang, Maxwell A. Sherman, Michael E. Coulter, Min‐Seok Kwon, Semin Lee, Soo In Lee, Vinary Viswanadham, Yanmei Dou, Andrew Chess, Attila Jones, Chaggai Rosenbluh, Schahram Akbarian, Ben Langmead, Jeremy Thorpe, Sean Cho, Alexej Abyzov, Taejeong Bae, Yeongjun Jang, Yifan Wang, Cindy Molitor, Mette A. Peters, Fred H. Gage, Meiyan Wang, Patrick Reed, Sara B. Linker, Alexander E. Urban, Bo Zhou, Reenal Pattni, Xiaowei Zhu, Aitor Serres Amero
Published 2022Artigo -
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Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability by Taejeong Bae, Liana Fasching, Yifan Wang, Joo Heon Shin, Milovan Šuvakov, Yeongjun Jang, Scott Norton, Caroline Dias, Jessica Mariani, Alexandre Jourdon, Feinan Wu, Arijit Panda, Reenal Pattni, Yasmine Chahine, Rebecca C. Yeh, Rosalinda C. Roberts, Anita Hüttner, Joel E. Kleinman, Thomas M. Hyde, Richard E. Straub, Christopher A. Walsh, Alexander E. Urban, James F. Leckman, Daniel R. Weinberger, Flora M. Vaccarino, Alexej Abyzov, Christopher A. Walsh, Peter J. Park, Nenad Šestan, Daniel R. Weinberger, John V. Moran, Fred H. Gage, Flora M. Vaccarino, Joseph G. Gleeson, Gary W. Mathern, Eric Courchesne, Subhojit Roy, Andrew Chess, Schahram Akbarian, Sara Bizzotto, Michael E. Coulter, Caroline Dias, Alissa M. D’Gama, Javier Ganz, Robert Hill, August Yue Huang, Sattar Khoshkhoo, Sonia Kim, Alice Lee, Michael A. Lodato, Eduardo A. Maury, Michael Miller, Rebeca Borges-Monroy, Rachel E. Rodin, Zinan Zhou, Craig L. Bohrson, Chong Chu, Isidro Cortés‐Ciriano, Yanmei Dou, Alon Galor, D. Gulhan, Min‐Seok Kwon, Joe Luquette, Maxwell A. Sherman, Vinay Viswanadham, Attila Jones, Chaggai Rosenbluh, Sean Cho, Ben Langmead, Jeremy Thorpe, Jennifer A. Erwin, Andrew E. Jaffe, Michael J. McConnell, Rujuta Narurkar, Apuã C.M. Paquola, Jooheon Shin, Richard E. Straub, Alexej Abyzov, Taejeong Bae, Yeongjun Jang, Yifan Wang, Cindy Molitor, Mette A. Peters, Sara B. Linker, Patrick Reed, Meiyan Wang, Alexander E. Urban, Bo Zhou, Xiaowei Zhu, Reenal Pattni, Aitor Serres Amero, David Juan, Irene Lobón, Tomàs Marquès‐Bonet, Manuel Solis Moruno, Raquel García Pérez, Inna Povolotskaya, Eduardo Soriano, Danny Antaki, Dan Averbuj
Published 2022Artigo
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