المؤلفون: Yifan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A. Sherman, Attila G. Jones, Sean Cho, Kenneth Daily, Yanmei Dou, Javier Ganz, Alon Galor, Irene Lobon, Reenal Pattni, Chaggai Rosenbluh, Simone Tomasi, Livia Tomasini, Xiaoxu Yang, Bo Zhou, Schahram Akbarian, Laurel L. Ball, Sara Bizzotto, Sarah B. Emery, Ryan Doan, Liana Fasching, Yeongjun Jang, David Juan, Esther Lizano, Lovelace J. Luquette, John B. Moldovan, Rujuta Narurkar, Matthew T. Oetjens, Rachel E. Rodin, Shobana Sekar, Joo Heon Shin, Eduardo Soriano, Richard E. Straub, Weichen Zhou, Andrew Chess, Joseph G. Gleeson, Tomas Marquès-Bonet, Peter J. Park, Mette A. Peters, Jonathan Pevsner, Christopher A. Walsh, Daniel R. Weinberger, Brain Somatic Mosaicism Network, Flora M. Vaccarino, John V. Moran, Alexander E. Urban, Jeffrey M. Kidd, Ryan E. Mills, Alexej Abyzov

المصدر: Genome Biology, Vol 22, Iss 1, Pp 1-32 (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/ed8ec2a7cb594e94ba5848bb9fd9be5a

المؤلفون: Yifan Wang (380120), Taejeong Bae (9637278), Jeremy Thorpe (10494889), Maxwell A. Sherman (10494892), Attila G. Jones (10494895), Sean Cho (842114), Kenneth Daily (150164), Yanmei Dou (10494898), Javier Ganz (580190), Alon Galor (10494901), Irene Lobon (10494904), Reenal Pattni (10494907), Chaggai Rosenbluh (10494910), Simone Tomasi (139458), Livia Tomasini (10494913), Xiaoxu Yang (673521), Bo Zhou (15092), Schahram Akbarian (117762), Laurel L. Ball (10494916), Sara Bizzotto (10138543), Sarah B. Emery (3244203), Ryan Doan (572108), Liana Fasching (10494919), Yeongjun Jang (146006), David Juan (19252), Esther Lizano (5986972), Lovelace J. Luquette (10494922), John B. Moldovan (10494925), Rujuta Narurkar (10494928), Matthew T. Oetjens (9635214), Rachel E. Rodin (10138540), Shobana Sekar (4243036), Joo Heon Shin (7432022), Eduardo Soriano (196519), Richard E. Straub (10494931), Weichen Zhou (6004454), Andrew Chess (63935), Joseph G. Gleeson (10494934), Tomas Marquès-Bonet (10494937), Peter J. Park (8186340), Mette A. Peters (6641051), Jonathan Pevsner (15767), Christopher A. Walsh (8667276), Daniel R. Weinberger (9283256), Flora M. Vaccarino (10494940), John V. Moran (10494943), Alexander E. Urban (10494946), Jeffrey M. Kidd (7465493), Ryan E. Mills (10494949), Alexej Abyzov (9637287)

مصطلحات موضوعية: Genetics, mosaic SNVs, Brain Somatic Mosaicism Network, nucleotide variants, DNA repair, single-nucleotide variants, bulk DNA samples, brain regions, mosaic variants, Somatic mosaicism, non-cancerous tissues, brain tissue Abstract Background Po., variant allele fractions, Comprehensive identification, dural fibroblasts, dura mater, multi-institutional study, DNA replication, cell lineage trees, dorsolateral prefrontal cortex, whole-genome sequencing data

Relation: https://figshare.com/articles/journal_contribution/Additional_file_5_of_Comprehensive_identification_of_somatic_nucleotide_variants_in_human_brain_tissue/14337778

الاتاحة: https://doi.org/10.6084/m9.figshare.14337778.v1

المؤلفون: Yifan Wang (380120), Taejeong Bae (9637278), Jeremy Thorpe (10494889), Maxwell A. Sherman (10494892), Attila G. Jones (10494895), Sean Cho (842114), Kenneth Daily (150164), Yanmei Dou (10494898), Javier Ganz (580190), Alon Galor (10494901), Irene Lobon (10494904), Reenal Pattni (10494907), Chaggai Rosenbluh (10494910), Simone Tomasi (139458), Livia Tomasini (10494913), Xiaoxu Yang (673521), Bo Zhou (15092), Schahram Akbarian (117762), Laurel L. Ball (10494916), Sara Bizzotto (10138543), Sarah B. Emery (3244203), Ryan Doan (572108), Liana Fasching (10494919), Yeongjun Jang (146006), David Juan (19252), Esther Lizano (5986972), Lovelace J. Luquette (10494922), John B. Moldovan (10494925), Rujuta Narurkar (10494928), Matthew T. Oetjens (9635214), Rachel E. Rodin (10138540), Shobana Sekar (4243036), Joo Heon Shin (7432022), Eduardo Soriano (196519), Richard E. Straub (10494931), Weichen Zhou (6004454), Andrew Chess (63935), Joseph G. Gleeson (10494934), Tomas Marquès-Bonet (10494937), Peter J. Park (8186340), Mette A. Peters (6641051), Jonathan Pevsner (15767), Christopher A. Walsh (8667276), Daniel R. Weinberger (9283256), Flora M. Vaccarino (10494940), John V. Moran (10494943), Alexander E. Urban (10494946), Jeffrey M. Kidd (7465493), Ryan E. Mills (10494949), Alexej Abyzov (9637287)

مصطلحات موضوعية: Genetics, mosaic SNVs, Brain Somatic Mosaicism Network, nucleotide variants, DNA repair, single-nucleotide variants, bulk DNA samples, brain regions, mosaic variants, Somatic mosaicism, non-cancerous tissues, brain tissue Abstract Background Po., variant allele fractions, Comprehensive identification, dural fibroblasts, dura mater, multi-institutional study, DNA replication, cell lineage trees, dorsolateral prefrontal cortex, whole-genome sequencing data

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Comprehensive_identification_of_somatic_nucleotide_variants_in_human_brain_tissue/14337760

الاتاحة: https://doi.org/10.6084/m9.figshare.14337760.v1

المؤلفون: Yifan Wang (380120), Taejeong Bae (9637278), Jeremy Thorpe (10494889), Maxwell A. Sherman (10494892), Attila G. Jones (10494895), Sean Cho (842114), Kenneth Daily (150164), Yanmei Dou (10494898), Javier Ganz (580190), Alon Galor (10494901), Irene Lobon (10494904), Reenal Pattni (10494907), Chaggai Rosenbluh (10494910), Simone Tomasi (139458), Livia Tomasini (10494913), Xiaoxu Yang (673521), Bo Zhou (15092), Schahram Akbarian (117762), Laurel L. Ball (10494916), Sara Bizzotto (10138543), Sarah B. Emery (3244203), Ryan Doan (572108), Liana Fasching (10494919), Yeongjun Jang (146006), David Juan (19252), Esther Lizano (5986972), Lovelace J. Luquette (10494922), John B. Moldovan (10494925), Rujuta Narurkar (10494928), Matthew T. Oetjens (9635214), Rachel E. Rodin (10138540), Shobana Sekar (4243036), Joo Heon Shin (7432022), Eduardo Soriano (196519), Richard E. Straub (10494931), Weichen Zhou (6004454), Andrew Chess (63935), Joseph G. Gleeson (10494934), Tomas Marquès-Bonet (10494937), Peter J. Park (8186340), Mette A. Peters (6641051), Jonathan Pevsner (15767), Christopher A. Walsh (8667276), Daniel R. Weinberger (9283256), Flora M. Vaccarino (10494940), John V. Moran (10494943), Alexander E. Urban (10494946), Jeffrey M. Kidd (7465493), Ryan E. Mills (10494949), Alexej Abyzov (9637287)

مصطلحات موضوعية: Genetics, mosaic SNVs, Brain Somatic Mosaicism Network, nucleotide variants, DNA repair, single-nucleotide variants, bulk DNA samples, brain regions, mosaic variants, Somatic mosaicism, non-cancerous tissues, brain tissue Abstract Background Po., variant allele fractions, Comprehensive identification, dural fibroblasts, dura mater, multi-institutional study, DNA replication, cell lineage trees, dorsolateral prefrontal cortex, whole-genome sequencing data

Relation: https://figshare.com/articles/journal_contribution/Additional_file_6_of_Comprehensive_identification_of_somatic_nucleotide_variants_in_human_brain_tissue/14337781

الاتاحة: https://doi.org/10.6084/m9.figshare.14337781.v1

المؤلفون: Yifan Wang, Taejeong Bae, Thorpe, Jeremy, Sherman, Maxwell A., Jones, Attila G., Cho, Sean, Daily, Kenneth, Yanmei Dou, Ganz, Javier, Galor, Alon, Lobon, Irene, Reenal Pattni, Rosenbluh, Chaggai, Tomasi, Simone, Tomasini, Livia, Xiaoxu Yang, Zhou, Bo, Schahram Akbarian, Ball, Laurel L., Bizzotto, Sara, Emery, Sarah B., Doan, Ryan, Fasching, Liana, Yeongjun Jang, Juan, David, Lizano, Esther, Lovelace J. Luquette, Moldovan, John B., Rujuta Narurkar, Oetjens, Matthew T., Rodin, Rachel E., Shobana Sekar, Shin, Joo Heon, Soriano, Eduardo, Straub, Richard E., Weichen Zhou, Chess, Andrew, Gleeson, Joseph G., Marquès-Bonet, Tomas, Park, Peter J., Peters, Mette A., Pevsner, Jonathan, Walsh, Christopher A., Weinberger, Daniel R., Vaccarino, Flora M., Moran, John V., Urban, Alexander E., Kidd, Jeffrey M., Mills, Ryan E., Abyzov, Alexej

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::81250f5789630a67b6eb6fbe63f6057d

المؤلفون: Yifan Wang, Taejeong Bae, Thorpe, Jeremy, Sherman, Maxwell A., Jones, Attila G., Cho, Sean, Daily, Kenneth, Yanmei Dou, Ganz, Javier, Galor, Alon, Lobon, Irene, Reenal Pattni, Rosenbluh, Chaggai, Tomasi, Simone, Tomasini, Livia, Xiaoxu Yang, Zhou, Bo, Schahram Akbarian, Ball, Laurel L., Bizzotto, Sara, Emery, Sarah B., Doan, Ryan, Fasching, Liana, Yeongjun Jang, Juan, David, Lizano, Esther, Lovelace J. Luquette, Moldovan, John B., Rujuta Narurkar, Oetjens, Matthew T., Rodin, Rachel E., Shobana Sekar, Shin, Joo Heon, Soriano, Eduardo, Straub, Richard E., Weichen Zhou, Chess, Andrew, Gleeson, Joseph G., Marquès-Bonet, Tomas, Park, Peter J., Peters, Mette A., Pevsner, Jonathan, Walsh, Christopher A., Weinberger, Daniel R., Vaccarino, Flora M., Moran, John V., Urban, Alexander E., Kidd, Jeffrey M., Mills, Ryan E., Abyzov, Alexej

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fa37f3bdcab1d22d67d662b21112fc4c

المؤلفون: Schahram Akbarian, Jonathan Pevsner, Joseph G. Gleeson, Reenal Pattni, Matthew T. Oetjens, Ryan E. Mills, Kenneth Daily, Alexander E. Urban, Yifan Wang, Irene Lobon, David Juan, John V. Moran, Taejeong Bae, Shobana Sekar, Christopher A. Walsh, Sara Bizzotto, Mette A. Peters, Yeongjun Jang, Attila G. Jones, Maxwell A. Sherman, Sean Cho, Liana Fasching, Rujuta Narurkar, Chaggai Rosenbluh, Yanmei Dou, Andrew Chess, Alon Galor, Jeremy Thorpe, Esther Lizano, Tomas Marques-Bonet, John B. Moldovan, Livia Tomasini, Laurel L. Ball, Javier Ganz, Weichen Zhou, Daniel R. Weinberger, Richard E. Straub, Ryan N. Doan, Xiaoxu Yang, Flora M. Vaccarino, Jeffrey M. Kidd, S. Emery, Alexej Abyzov, Bo Zhou, Simone Tomasi, Joo Heon Shin, Peter J. Park, Eduardo Soriano

مصطلحات موضوعية: Whole genome sequencing, chemistry.chemical_compound, Lineage (genetic), chemistry, DNA repair, Somatic cell, DNA replication, Identification (biology), Human genome, Computational biology, Biology, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::064859c9ad7c33119f048584d41f4e12
https://doi.org/10.1101/2020.10.10.332213

المؤلفون: Yifan Wang (380120), Taejeong Bae (9637278), Jeremy Thorpe (10494889), Maxwell A. Sherman (10494892), Attila G. Jones (10494895), Sean Cho (842114), Kenneth Daily (150164), Yanmei Dou (10494898), Javier Ganz (580190), Alon Galor (10494901), Irene Lobon (10494904), Reenal Pattni (10494907), Chaggai Rosenbluh (10494910), Simone Tomasi (139458), Livia Tomasini (10494913), Xiaoxu Yang (673521), Bo Zhou (15092), Schahram Akbarian (117762), Laurel L. Ball (10494916), Sara Bizzotto (10138543), Sarah B. Emery (3244203), Ryan Doan (572108), Liana Fasching (10494919), Yeongjun Jang (146006), David Juan (19252), Esther Lizano (5986972), Lovelace J. Luquette (10494922), John B. Moldovan (10494925), Rujuta Narurkar (10494928), Matthew T. Oetjens (9635214), Rachel E. Rodin (10138540), Shobana Sekar (4243036), Joo Heon Shin (7432022), Eduardo Soriano (196519), Richard E. Straub (10494931), Weichen Zhou (6004454), Andrew Chess (63935), Joseph G. Gleeson (10494934), Tomas Marquès-Bonet (10494937), Peter J. Park (8186340), Mette A. Peters (6641051), Jonathan Pevsner (15767), Christopher A. Walsh (8667276), Daniel R. Weinberger (9283256), Flora M. Vaccarino (10494940), John V. Moran (10494943), Alexander E. Urban (10494946), Jeffrey M. Kidd (7465493), Ryan E. Mills (10494949), Alexej Abyzov (9637287)

مصطلحات موضوعية: Genetics, mosaic SNVs, Brain Somatic Mosaicism Network, nucleotide variants, DNA repair, single-nucleotide variants, bulk DNA samples, brain regions, mosaic variants, Somatic mosaicism, non-cancerous tissues, brain tissue Abstract Background Po., variant allele fractions, Comprehensive identification, dural fibroblasts, dura mater, multi-institutional study, DNA replication, cell lineage trees, dorsolateral prefrontal cortex, whole-genome sequencing data

Relation: https://figshare.com/articles/dataset/Additional_file_4_of_Comprehensive_identification_of_somatic_nucleotide_variants_in_human_brain_tissue/14337772

الاتاحة: https://doi.org/10.6084/m9.figshare.14337772.v1

المؤلفون: Yifan Wang (380120), Taejeong Bae (9637278), Jeremy Thorpe (10494889), Maxwell A. Sherman (10494892), Attila G. Jones (10494895), Sean Cho (842114), Kenneth Daily (150164), Yanmei Dou (10494898), Javier Ganz (580190), Alon Galor (10494901), Irene Lobon (10494904), Reenal Pattni (10494907), Chaggai Rosenbluh (10494910), Simone Tomasi (139458), Livia Tomasini (10494913), Xiaoxu Yang (673521), Bo Zhou (15092), Schahram Akbarian (117762), Laurel L. Ball (10494916), Sara Bizzotto (10138543), Sarah B. Emery (3244203), Ryan Doan (572108), Liana Fasching (10494919), Yeongjun Jang (146006), David Juan (19252), Esther Lizano (5986972), Lovelace J. Luquette (10494922), John B. Moldovan (10494925), Rujuta Narurkar (10494928), Matthew T. Oetjens (9635214), Rachel E. Rodin (10138540), Shobana Sekar (4243036), Joo Heon Shin (7432022), Eduardo Soriano (196519), Richard E. Straub (10494931), Weichen Zhou (6004454), Andrew Chess (63935), Joseph G. Gleeson (10494934), Tomas Marquès-Bonet (10494937), Peter J. Park (8186340), Mette A. Peters (6641051), Jonathan Pevsner (15767), Christopher A. Walsh (8667276), Daniel R. Weinberger (9283256), Flora M. Vaccarino (10494940), John V. Moran (10494943), Alexander E. Urban (10494946), Jeffrey M. Kidd (7465493), Ryan E. Mills (10494949), Alexej Abyzov (9637287)

مصطلحات موضوعية: Genetics, mosaic SNVs, Brain Somatic Mosaicism Network, nucleotide variants, DNA repair, single-nucleotide variants, bulk DNA samples, brain regions, mosaic variants, Somatic mosaicism, non-cancerous tissues, brain tissue Abstract Background Po., variant allele fractions, Comprehensive identification, dural fibroblasts, dura mater, multi-institutional study, DNA replication, cell lineage trees, dorsolateral prefrontal cortex, whole-genome sequencing data

Relation: https://figshare.com/articles/dataset/Additional_file_3_of_Comprehensive_identification_of_somatic_nucleotide_variants_in_human_brain_tissue/14337769

الاتاحة: https://doi.org/10.6084/m9.figshare.14337769.v1

المؤلفون: Yifan Wang (380120), Taejeong Bae (9637278), Jeremy Thorpe (10494889), Maxwell A. Sherman (10494892), Attila G. Jones (10494895), Sean Cho (842114), Kenneth Daily (150164), Yanmei Dou (10494898), Javier Ganz (580190), Alon Galor (10494901), Irene Lobon (10494904), Reenal Pattni (10494907), Chaggai Rosenbluh (10494910), Simone Tomasi (139458), Livia Tomasini (10494913), Xiaoxu Yang (673521), Bo Zhou (15092), Schahram Akbarian (117762), Laurel L. Ball (10494916), Sara Bizzotto (10138543), Sarah B. Emery (3244203), Ryan Doan (572108), Liana Fasching (10494919), Yeongjun Jang (146006), David Juan (19252), Esther Lizano (5986972), Lovelace J. Luquette (10494922), John B. Moldovan (10494925), Rujuta Narurkar (10494928), Matthew T. Oetjens (9635214), Rachel E. Rodin (10138540), Shobana Sekar (4243036), Joo Heon Shin (7432022), Eduardo Soriano (196519), Richard E. Straub (10494931), Weichen Zhou (6004454), Andrew Chess (63935), Joseph G. Gleeson (10494934), Tomas Marquès-Bonet (10494937), Peter J. Park (8186340), Mette A. Peters (6641051), Jonathan Pevsner (15767), Christopher A. Walsh (8667276), Daniel R. Weinberger (9283256), Flora M. Vaccarino (10494940), John V. Moran (10494943), Alexander E. Urban (10494946), Jeffrey M. Kidd (7465493), Ryan E. Mills (10494949), Alexej Abyzov (9637287)

مصطلحات موضوعية: Genetics, mosaic SNVs, Brain Somatic Mosaicism Network, nucleotide variants, DNA repair, single-nucleotide variants, bulk DNA samples, brain regions, mosaic variants, Somatic mosaicism, non-cancerous tissues, brain tissue Abstract Background Po., variant allele fractions, Comprehensive identification, dural fibroblasts, dura mater, multi-institutional study, DNA replication, cell lineage trees, dorsolateral prefrontal cortex, whole-genome sequencing data

Relation: https://figshare.com/articles/dataset/Additional_file_2_of_Comprehensive_identification_of_somatic_nucleotide_variants_in_human_brain_tissue/14337763

الاتاحة: https://doi.org/10.6084/m9.figshare.14337763.v1

المؤلفون: Yifan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A. Sherman, Attila G. Jones, Sean Cho, Kenneth Daily, Yanmei Dou, Javier Ganz, Alon Galor, Irene Lobon, Reenal Pattni, Chaggai Rosenbluh, Simone Tomasi, Livia Tomasini, Xiaoxu Yang, Bo Zhou, Schahram Akbarian, Laurel L. Ball, Sara Bizzotto, Sarah B. Emery, Ryan Doan, Liana Fasching, Yeongjun Jang, David Juan, Esther Lizano, John B. Moldovan, Rujuta Narurkar, Matthew T. Oetjens, Shobana Sekar, Joo Heon Shin, Eduardo Soriano, Richard E. Straub, Weichen Zhou, Lovelace J. Luquette, Andrew Chess, Joseph G. Gleeson, Tomas Marquès-Bonet, Peter J. Park, Mette A. Peters, Jonathan Pevsner, Christopher A. Walsh, Daniel R. Weinberger, Flora M. Vaccarino, John V. Moran, Alexander E. Urban, Jeffrey M. Kidd, Ryan E. Mills, Alexej Abyzov

المساهمون: Yifan Wang, Taejeong Bae, Yeongjun Jang

مصطلحات موضوعية: somatic variants, mosaic variants, brain, BSMN

Relation: https://github.com/bsmn/bsmn-pipeline/tree/v2.0; https://doi.org/10.5281/zenodo.4321678; https://doi.org/10.5281/zenodo.4321679; oai:zenodo.org:4321679

الاتاحة: https://doi.org/10.5281/zenodo.4321679

المؤلفون: Wing Hung Wong, Walid S. Kamoun, Lynda Chin, Hongwu Zheng, Jed Mahoney, Jihye Paik, Shan Jiang, Shakti Ramkissoon, Alexei Protopopov, Florian L. Muller, Rujuta Narurkar, Zhihu Ding, David Hiller, Haoqiang Ying, Sung Suk Chae, Ronald A. DePinho, Keith L. Ligon

المصدر: Cell Stem Cell. 5:540-553

مصطلحات موضوعية: Regulation of gene expression, Cellular differentiation, Neurogenesis, FOXO Family, Cell Biology, Biology, STEMCELL, Article, Neural stem cell, Cell biology, Genetics, Molecular Medicine, biological phenomena, cell phenomena, and immunity, Stem cell, Progenitor cell, Protein kinase B

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf4976913ab87e5341d74b5ba83b534d
https://doi.org/10.1016/j.stem.2009.09.013

المؤلفون: Daniel Eisenson, Dennis Ho, Pingna Deng, Eliot Fletcher-Sananikone, Derrick Sek Tong Ong, Michelle A. Lee, Jaclyn Lee, Florian L. Muller, Luigi Nezi, Rujuta Narurkar, Cameron Brennan, Giannicola Genovese, Elisa Aquilanti, Lynda Chin, Jian Hu, Y. Alan Wang, Simona Colla, Ronald A. DePinho, Ergun Sahin, Veronica E. Manzo, Baoli Hu, Lawrence N. Kwong

المصدر: Nature. 525:278-278

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Multidisciplinary, Western blot, medicine.diagnostic_test, business.industry, Internal medicine, medicine, MEDLINE, Cancer, medicine.disease, CNS cancer, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::574521a95b4994ec0f63f41c3c4b5d71
https://doi.org/10.1038/nature14609

المؤلفون: Chung, Changuk, Yang, Xiaoxu, Bae, Taejeong, Vong, Keng, Ioi, Mittal, Swapnil, Donkels, Catharina, Westley Phillips, H., Li, Zhen, Marsh, Ashley, P L, Breuss, Martin, W, Ball, Laurel, L, Garcia, Camila, Araújo Bernardino, George, Renee, D, Gu, Jing, Xu, Mingchu, Barrows, Chelsea, James, Kiely, N, Stanley, Valentina, Nidhiry, Anna, S, Khoury, Sami, Howe, Gabrielle, Riley, Emily, Xu, Xin, Copeland, Brett, Wang, Yifan, Kim, Se, Hoon, Kang, Hoon-Chul, Schulze-Bonhage, Andreas, Haas, Carola, A, Urbach, Horst, Prinz, Marco, Limbrick, David, D, Gurnett, Christina, A, Smyth, Matthew, D, Sattar, Shifteh, Nespeca, Mark, Gonda, David, D, Imai, Katsumi, Takahashi, Yukitoshi, Chen, Hsin-Hung, Tsai, Jin-Wu, Conti, Valerio, Guerrini, Renzo, Devinsky, Orrin, Silva, Wilson, A, Machado, Helio, R, Mathern, Gary, W, Abyzov, Alexej, Baldassari, Sara, Baulac, Stéphanie, Gleeson, Joseph, G

المساهمون: University of California San Diego (UC San Diego), University of California (UC), Rady Children’s Institute of Genomic Medicine La Jolla, CA, USA, Mayo Clinic Rochester, Albert-Ludwigs-Universität Freiburg = University of Freiburg, University of California Los Angeles (UCLA), Universidade de São Paulo = University of São Paulo (USP), Yonsei University, Universitäts Klinikum Freiburg = University Medical Center Freiburg (Uniklinik), St. Louis Children's Hospital, Washington University in Saint Louis (WUSTL), Rady Children's Hospital, University of Shizuoka, Taipei Veterans General Hospital Taiwan, National Yang Ming Chiao Tung University Taipei (NYCU), Azienda Ospedaliero Universitaria Meyer Firenze = Meyer Children's University Hospital Florence (AOU Meyer), Università degli Studi di Firenze = University of Florence = Université de Florence (UniFI), New York University Langone Medical Center (NYU Langone Medical Center), NYU System (NYU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), AmpliSeq, TASeq, and snRNAseq were supported by NIH P30CA023100 and S10OD026929 at the UCSD IGM Genomics Center. Rady Children’s Institute for Genomic Medicine, Broad nstitute (U54HG003067, UM1HG008900), the Yale Center for Mendelian Disorders(U54HG006504), and the New York Genome Center provided whole-exome sequencing. UCSD Microscopy core (NINDS P30NS047101) provided imaging support. UCSD Tissue Technology Shared Resources Team (National Cancer Institute Cancer Center Support Grant, P30CA23100) supported paraffin sectioning and H&E staining. This study is supported by the 2021 NARSAD Young Investigator Grant from Brain & Behavior Research Foundation (30598 to CC), NIH (NIMH U01MH108898 and R01MH124890 to JGG and GWM, and NIA R21AG070462, NINDS R01NS083823 to JGG), the Regione Toscana under the Call for Health 2018 (DECODE-EE to RG) and Fondazione Cassa di Risparmio di Firenze (to RG). Fig. 1b and Fig.3a are created with BioRender.com. The funders had no role in the study design, data collection,analysis, decision to publish, or preparation of the manuscript., Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Joseph G Gleeson, Marilyn Jones, Diane Masser-Frye, Shifteh Sattar, Mark Nespeca, David D Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin-Hung Chen, Jin-Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Helio R Machado, Camila Araújo Bernardino Garcia, Wilson A Silva Jr, Se Hoon Kim, Hoon-Chul Kang, Yasemin Alanay, Seema Kapoor, Carola A Haas, Georgia Ramantani, Thomas Feuerstein, Ingmar Blumcke, Robyn Busch, Zhong Ying, Vadym Biloshytsky, Kostiantyn Kostiuk, Eugene Pedachenko, Gary W Mathern, Christina A Gurnett, Matthew D Smyth, Ingo Helbig, Benjamin C Kennedy, Judy Liu, Felix Chan, Darcy Krueger, Richard Frye, Angus Wilfong, David Adelson, William Gaillard, Chima Oluigbo, Anne Anderson, Alice Lee, August Yue Huang, Alissa D'Gama, Caroline Dias, Christopher A Walsh, Eduardo Maury, Javier Ganz, Michael Lodato, Michael Miller, Pengpeng Li, Rachel Rodin, Rebeca Borges-Monroy, Robert Hill, Sara Bizzotto, Sattar Khoshkhoo, Sonia Kim, Zinan Zhou, Alice Lee, Alison Barton, Alon Galor, Chong Chu, Craig Bohrson, Doga Gulhan, Eduardo Maury, Elaine Lim, Euncheon Lim, Giorgio Melloni, Isidro Cortes, Jake Lee, Joe Luquette, Lixing Yang, Maxwell Sherman, Michael Coulter, Minseok Kwon, Peter J Park, Rebeca Borges-Monroy, Semin Lee, Sonia Kim, Soo Lee, Vinary Viswanadham, Yanmei Dou, Andrew J Chess, Attila Jones, Chaggai Rosenbluh, Schahram Akbarian, Ben Langmead, Jeremy Thorpe, Sean Cho, Andrew Jaffe, Apua Paquola, Daniel Weinberger, Jennifer Erwin, Jooheon Shin, Michael McConnell, Richard Straub, Rujuta Narurkar, Alexej Abyzov, Taejeong Bae, Yeongjun Jang, Yifan Wang, Anjene Addington, Geetha Senthil, Cindy Molitor, Mette Peters, Fred H Gage, Meiyan Wang, Patrick Reed, Sara Linker, Alexander Urban, Bo Zhou, Reenal Pattni, Xiaowei Zhu, Aitor Serres Amero, David Juan, Inna Povolotskaya, Irene Lobon, Manuel Solis Moruno, Raquel Garcia Perez, Tomas Marques-Bonet, Eduardo Soriano, Gary Mathern, Danny Antaki, Dan Averbuj, Eric Courchesne, Joseph G Gleeson, Laurel L Ball, Martin W Breuss, Subhojit Roy, Xiaoxu Yang, Changuk Chung, Chen Sun, Diane A Flasch, Trenton J Frisbie Trenton, Huira C Kopera, Jeffrey M Kidd, John B Moldovan, John V Moran, Kenneth Y Kwan, Ryan E Mills, Sarah B Emery, Weichen Zhou, Xuefang Zhao, Aakrosh Ratan, Adriana Cherskov, Alexandre Jourdon, Flora M Vaccarino, Liana Fasching, Nenad Sestan, Sirisha Pochareddy, Soraya Scuder

المصدر: ISSN: 1061-4036.

مصطلحات موضوعية: MESH: Humans, MESH: Multiomics, MESH: Brain, MESH: Epilepsy, MESH: Mutation, MESH: Malformations of Cortical Development, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36635388; PUBMED: 36635388; PUBMEDCENTRAL: PMC9961399

الاتاحة: https://hal.sorbonne-universite.fr/hal-04610563
https://hal.sorbonne-universite.fr/hal-04610563v1/document
https://hal.sorbonne-universite.fr/hal-04610563v1/file/qt6qk17474.pdf
https://doi.org/10.1038/s41588-022-01276-9