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Comprehensive multiomic profiling of somatic mutations in malformations of cortical development
View ORCID ProfileChanguk Chung, View ORCID ProfileXiaoxu Yang, View ORCID ProfileTaejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Ashley P. L. Marsh, View ORCID ProfileMartin W. Breuss, Laurel L. Ball, Camila Araújo Bernardino Garcia, View ORCID ProfileRenee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, View ORCID ProfileYifan Wang, Se Hoon Kim, Hoon-Chul Kang, Andreas Schulze-Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, Corrine Gardner, Christina A. Gurnett, Shifteh Sattar, Mark Nespeca, David D. Gonda, Katsumi Imai, Yukitoshi Takahashi, Robert Chen, Jin-Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva Jr, Helio R. Machado, Gary W. Mathern, View ORCID ProfileAlexej Abyzov, Sara Baldassari, View ORCID ProfileStéphanie Baulac, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, View ORCID ProfileJoseph G. Gleeson
doi: https://doi.org/10.1101/2022.04.07.487401
Changuk Chung
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Xiaoxu Yang
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Taejeong Bae
3Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA
Keng Ioi Vong
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Swapnil Mittal
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Catharina Donkels
4Department of Neurosurgery, Experimental Epilepsy Research, Medical Center-University of Freiburg, Faculty of Medicine, 79106 Freiburg, Germany
H. Westley Phillips
5Department of Neurosurgery, University of California at Los Angeles, CA, 90095, USA
Ashley P. L. Marsh
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Martin W. Breuss
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
6Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Aurora, CO, 80045, USA
Laurel L. Ball
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Camila Araújo Bernardino Garcia
7Laboratory of Pediatric Neurosurgery and Developmental Neuropathology, Dept. of Surgery and Anatomy, University of São Paulo (USP), Ribeirão Preto, 14000 -000, Brazil
Renee D. George
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Jing Gu
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Mingchu Xu
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Chelsea Barrows
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Kiely N. James
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Valentina Stanley
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Anna Nidhiry
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Sami Khoury
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Gabrielle Howe
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Emily Riley
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Xin Xu
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Brett Copeland
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Yifan Wang
3Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA
Se Hoon Kim
8Div Pediatric Neurology, Dept of Pediatrics, Severance Children’s Hospital, Yonsei U College of Medicine, Seoul, Korea
Hoon-Chul Kang
8Div Pediatric Neurology, Dept of Pediatrics, Severance Children’s Hospital, Yonsei U College of Medicine, Seoul, Korea
Andreas Schulze-Bonhage
9Center for Basics in NeuroModulation, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany
Carola A. Haas
4Department of Neurosurgery, Experimental Epilepsy Research, Medical Center-University of Freiburg, Faculty of Medicine, 79106 Freiburg, Germany
9Center for Basics in NeuroModulation, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany
Horst Urbach
10Department of Neuroradiology, Medical Center-University of Freiburg, Faculty of Medicine, 79106 Freiburg, Germany
Marco Prinz
9Center for Basics in NeuroModulation, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany
11Institute of Neuropathology, Medical Center-University of Freiburg, Faculty of Medicine, 79106 Freiburg, Germany
Corrine Gardner
12St. Louis Children’s Hospital, Washington University St Louis, MO, 63110, USA
Christina A. Gurnett
12St. Louis Children’s Hospital, Washington University St Louis, MO, 63110, USA
Shifteh Sattar
13Epilepsy Center, Rady Children’s Hospital, San Diego, CA, 92123, USA
Mark Nespeca
13Epilepsy Center, Rady Children’s Hospital, San Diego, CA, 92123, USA
David D. Gonda
13Epilepsy Center, Rady Children’s Hospital, San Diego, CA, 92123, USA
Katsumi Imai
14National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka 420-8688, Japan
Yukitoshi Takahashi
14National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka 420-8688, Japan
Robert Chen
15Institute of Brain Science, National Yang-Ming University, Beitou 112, Taipei, Taiwan
Jin-Wu Tsai
15Institute of Brain Science, National Yang-Ming University, Beitou 112, Taipei, Taiwan
Valerio Conti
16Paediatric Neurology Unit and Laboratories, A. Meyer Children’s Hospital, University of Florence, Italy
Renzo Guerrini
16Paediatric Neurology Unit and Laboratories, A. Meyer Children’s Hospital, University of Florence, Italy
Orrin Devinsky
17Epilepsy Service, Dept. Neurology, New York University, NY, 10016, USA
Wilson A. Silva Jr
18Department of Genetics, Center for Cell-Based Therapy, Center for Integrative Systems Biology, University of São Paulo (USP), Ribeirão Preto, 14000-000, Brazil
Helio R. Machado
7Laboratory of Pediatric Neurosurgery and Developmental Neuropathology, Dept. of Surgery and Anatomy, University of São Paulo (USP), Ribeirão Preto, 14000 -000, Brazil
Gary W. Mathern
5Department of Neurosurgery, University of California at Los Angeles, CA, 90095, USA
Alexej Abyzov
3Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA
Sara Baldassari
19Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital de la Pitié Salpêtrière, Paris, France
Stéphanie Baulac
19Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital de la Pitié Salpêtrière, Paris, France
Joseph G. Gleeson
1Department of Neurosciences, University of California San Diego, La Jolla, CA, 92037, USA
2Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92123, USA
Posted April 11, 2022.
Comprehensive multiomic profiling of somatic mutations in malformations of cortical development
Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Ashley P. L. Marsh, Martin W. Breuss, Laurel L. Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon-Chul Kang, Andreas Schulze-Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, Corrine Gardner, Christina A. Gurnett, Shifteh Sattar, Mark Nespeca, David D. Gonda, Katsumi Imai, Yukitoshi Takahashi, Robert Chen, Jin-Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva Jr, Helio R. Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Joseph G. Gleeson
bioRxiv 2022.04.07.487401; doi: https://doi.org/10.1101/2022.04.07.487401
Comprehensive multiomic profiling of somatic mutations in malformations of cortical development
Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Ashley P. L. Marsh, Martin W. Breuss, Laurel L. Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon-Chul Kang, Andreas Schulze-Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, Corrine Gardner, Christina A. Gurnett, Shifteh Sattar, Mark Nespeca, David D. Gonda, Katsumi Imai, Yukitoshi Takahashi, Robert Chen, Jin-Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva Jr, Helio R. Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Joseph G. Gleeson
bioRxiv 2022.04.07.487401; doi: https://doi.org/10.1101/2022.04.07.487401
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