المؤلفون: Yang, Xiaoxu, Xu, Xin, Breuss, Martin W, Antaki, Danny, Ball, Laurel L, Chung, Changuk, Shen, Jiawei, Li, Chen, George, Renee D, Wang, Yifan, Bae, Taejeong, Cheng, Yuhe, Abyzov, Alexej, Wei, Liping, Alexandrov, Ludmil B, Sebat, Jonathan L, Gleeson, Joseph G

المصدر: Nature Biotechnology. 41(6)

مصطلحات موضوعية: Genetics, Prevention, Brain Disorders, Human Genome, Underpinning research, 1.1 Normal biological development and functioning, Software, Whole Genome Sequencing, Exome Sequencing, Exome, High-Throughput Nucleotide Sequencing, Polymorphism, Single Nucleotide, Nucleotides, NIMH Brain Somatic Mosaicism Network

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/91f9r3tgTest

المؤلفون: Chung, Changuk, Yang, Xiaoxu, Bae, Taejeong, Vong, Keng Ioi, Mittal, Swapnil, Donkels, Catharina, Westley Phillips, H, Li, Zhen, Marsh, Ashley PL, 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

المصدر: Nature Genetics. 55(2)

مصطلحات موضوعية: Genetics, Pediatric, Neurodegenerative, Epilepsy, Neurosciences, Human Genome, Brain Disorders, Biotechnology, Clinical Research, Stem Cell Research, Congenital Structural Anomalies, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Multiomics, Brain, Mutation, Malformations of Cortical Development, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6qk17474Test

المؤلفون: Yang, Xiaoxu, Breuss, Martin W, Xu, Xin, Antaki, Danny, James, Kiely N, Stanley, Valentina, Ball, Laurel L, George, Renee D, Wirth, Sara A, Cao, Beibei, Nguyen, An, McEvoy-Venneri, Jennifer, Chai, Guoliang, Nahas, Shareef, Van Der Kraan, Lucitia, Ding, Yan, Sebat, Jonathan, Gleeson, Joseph G

المصدر: Cell. 184(18)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Stem Cell Research, Aetiology, Underpinning research, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Generic health relevance, Adolescent, Aging, Alleles, Clone Cells, Cohort Studies, Growth and Development, Humans, Male, Models, Biological, Mosaicism, Mutation, Risk Factors, Spermatozoa, Time Factors, Young Adult, autism spectrum disorder, clonal mosaicism, congenital disorders, de novo mutation, embryogenesis, mutational signature, somatic, sperm, transmission risk, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/32m300jjTest

المؤلفون: Issa, Mahmoud Y, Chechlacz, Zinayida, Stanley, Valentina, George, Renee D, McEvoy-Venneri, Jennifer, Belandres, Denice, Elbendary, Hasnaa M, Gaber, Khaled R, Nabil, Ahmed, Abdel-Hamid, Mohamed S, Zaki, Maha S, Gleeson, Joseph G

المصدر: BMC Medical Genomics. 13(1)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Prevention, Pediatric, Clinical Research, Reproductive health and childbirth, Good Health and Well Being, Child, Preschool, Female, Genes, Recessive, Genetic Markers, Genetic Predisposition to Disease, Genetic Testing, Genotype, High-Throughput Nucleotide Sequencing, Humans, Infant, Infant, Newborn, Male, Mutation, Nervous System Diseases, Pedigree, Pregnancy, Prenatal Diagnosis, Recurrence, Retrospective Studies, Medical Biochemistry and Metabolomics, Oncology and Carcinogenesis, Genetics & Heredity, Medical biochemistry and metabolomics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6jq364tfTest

المؤلفون: Wenderski, Wendy, Wang, Lu, Krokhotin, Andrey, Walsh, Jessica J, Li, Hongjie, Shoji, Hirotaka, Ghosh, Shereen, George, Renee D, Miller, Erik L, Elias, Laura, Gillespie, Mark A, Son, Esther Y, Staahl, Brett T, Baek, Seung Tae, Stanley, Valentina, Moncada, Cynthia, Shipony, Zohar, Linker, Sara B, Marchetto, Maria CN, Gage, Fred H, Chen, Dillon, Sultan, Tipu, Zaki, Maha S, Ranish, Jeffrey A, Miyakawa, Tsuyoshi, Luo, Liqun, Malenka, Robert C, Crabtree, Gerald R, Gleeson, Joseph G

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 117(18)

مصطلحات موضوعية: Autism, Behavioral and Social Science, Basic Behavioral and Social Science, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Neurosciences, Genetics, Brain Disorders, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Neurological, Mental health, Actins, Adenosine Triphosphate, Animals, Autism Spectrum Disorder, Behavior, Animal, Chromatin, Chromatin Assembly and Disassembly, Chromosomal Proteins, Non-Histone, Chromosome Pairing, Corpus Callosum, DNA-Binding Proteins, Dendrites, Disease Models, Animal, Gene Expression Regulation, Hippocampus, Humans, Mice, Mice, Knockout, Mutation, Neurons, Transcription Factors, autism, mouse model, recessive, BAF, activity dependent

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/65w0b3xrTest

المؤلفون: Garcia, Camila AB, Carvalho, Simone CS, Yang, Xiaoxu, Ball, Laurel L, George, Renee D, James, Kiely N, Stanley, Valentina, Breuss, Martin W, Thomé, Ursula, Santos, Marcelo V, Saggioro, Fabiano P, Serafini, Luciano Neder, Silva, Wilson A, Gleeson, Joseph G, Machado, Hélio R

المصدر: Epilepsia Open. 5(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Biotechnology, Brain Disorders, Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, epilepsy, hemimegalencephaly, mTOR, Clinical sciences, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0zz5f1bbTest

المؤلفون: Breuss, Martin W, Antaki, Danny, George, Renee D, Kleiber, Morgan, James, Kiely N, Ball, Laurel L, Hong, Oanh, Mitra, Ileena, Yang, Xiaoxu, Wirth, Sara A, Gu, Jing, Garcia, Camila AB, Gujral, Madhusudan, Brandler, William M, Musaev, Damir, Nguyen, An, McEvoy-Venneri, Jennifer, Knox, Renatta, Sticca, Evan, Botello, Martha Cristina Cancino, Uribe Fenner, Javiera, Pérez, Maria Cárcel, Arranz, Maria, Moffitt, Andrea B, Wang, Zihua, Hervás, Amaia, Devinsky, Orrin, Gymrek, Melissa, Sebat, Jonathan, Gleeson, Joseph G

المصدر: Nature Medicine. 26(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Mental Health, Serious Mental Illness, Autism, Intellectual and Developmental Disabilities (IDD), Genetics, Human Genome, Pediatric, Brain Disorders, Contraception/Reproduction, 2.1 Biological and endogenous factors, Aetiology, Autistic Disorder, Female, Genetic Predisposition to Disease, Humans, Male, Mosaicism, Mutation, Pedigree, Polymorphism, Single Nucleotide, Recurrence, Risk Factors, Spermatozoa, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/33p6091gTest

المؤلفون: Breuss, Martin W, Nguyen, An, Song, Qiong, Nguyen, Thai, Stanley, Valentina, James, Kiely N, Musaev, Damir, Chai, Guoliang, Wirth, Sara A, Anzenberg, Paula, George, Renee D, Johansen, Anide, Ali, Shaila, Zia-ur-Rehman, Muhammad, Sultan, Tipu, Zaki, Maha S, Gleeson, Joseph G

المصدر: American Journal of Human Genetics. 103(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Neurosciences, Brain Disorders, Genetics, Pediatric, Clinical Research, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Animals, Atrophy, Cell Differentiation, Child, Corpus Callosum, Endoplasmic Reticulum, Female, Homeodomain Proteins, Humans, Infant, Intellectual Disability, Male, Membrane Proteins, Mice, Muscle Hypotonia, Mutation, Phenotype, Psychomotor Disorders, Stem Cells, KIAA1715, corpus callosum hypoplasia, endoplasmic reticulum, epilepsy, human genetics, hypotonia, lunapark, organelle morphology, recessive disease, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2h03q2mxTest

المؤلفون: Claw, Katrina G., George, Renee D., MacCoss, Michael J., Swanson, Willie J.

المساهمون: National Science Foundation, National Institutes of Health, National Institute of Child Health and Human Development

المصدر: BMC Genomics ; volume 19, issue 1 ; ISSN 1471-2164

مصطلحات موضوعية: Genetics, Biotechnology

الإتاحة: https://doi.org/10.1186/s12864-018-4872-xTest

المؤلفون: Aagaard, Jan E., George, Renee D., Fishman, Lila, MacCoss, Michael J., Swanson, Willie J.

المساهمون: Bomblies, Kirsten

المصدر: PLoS Genetics ; volume 9, issue 12, page e1003965 ; ISSN 1553-7404

الإتاحة: https://doi.org/10.1371/journal.pgen.1003965Test