المؤلفون: Variants, Commission on Novel Technologies for Neurodevelopmental Copy Number, Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Palma, Eduardo Perez, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: American Journal of Human Genetics. 109(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, DNA Copy Number Variations, Genome, Humans, Neurodevelopmental Disorders, Patient Advocacy, Phenotype, Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, CNVs, biobank, community engagement, copy-number variants, genomic disorders, iPSCs, inclusion, infrastructure, long-read sequencing, neurodevelopment, neurological, patient centered, patient led, structural variants, systematic phenotyping, team science, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3tc3h13f

المؤلفون: Zhou, WL, Lin, LZ, Majumdar, A, Li, X, Zhang, XX, Liu, W, Etheridge, L, Shi, YQ, Martin, J, Van de Ven, W, Kaartinen, V, Wynshaw-Boris, A, McMahon, AP, Rosenfeld, MG, Evans, SM

المصدر: Nature genetics. 39(10):1225-1234

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:115973344

المؤلفون: Okazaki, Y, Furuno, M, Kasukawa, T, Adachi, J, Bono, H, Kondo, S, Nikaido, I, Osato, N, Saito, R, Suzuki, H, Yamanaka, I, Kiyosawa, H, Yagi, K, Tomaru, Y, Hasegawa, Y, Nogami, A, Schonbach, C, Gojobori, T, Baldarelli, R, Hill, DP, Bult, C, Hume, DA, Quackenbush, J, Schriml, LM, Kanapin, A, Matsuda, H, Batalov, S, Beisel, KW, Blake, JA, Bradt, D, Brusic, V, Chothia, C, Corbani, LE, Cousins, S, Dalla, E, Dragani, TA, Fletcher, CF, Forrest, A, Frazer, KS, Gaasterland, T, Gariboldi, M, Gissi, C, Godzik, A, Gough, J, Grimmond, S, Gustincich, S, Hirokawa, N, Jackson, IJ, Jarvis, ED, Kanai, A, Kawaji, H, Kawasawa, Y, Kedzierski, RM, King, BL, Konagaya, A, Kurochkin, IV, Lee, Y, Lenhard, B, Lyons, PA, Maglott, DR, Maltais, L, Marchionni, L, McKenzie, L, Miki, H, Nagashima, T, Numata, K, Okido, T, Pavan, WJ, Pertea, G, Pesole, G, Petrovsky, N, Pillai, R, Pontius, JU, Qi, D, Ramachandran, S, Ravasi, T, Reed, JC, Reed, DJ, Reid, J, Ring, BZ, Ringwald, M, Sandelin, A, Schneider, C, Semple, CAM, Setou, M, Shimada, K, Sultana, R, Takenaka, Y, Taylor, MS, Teasdale, RD, Tomita, M, Verardo, R, Wagner, L, Wahlestedt, C, Wang, Y, Watanabe, Y, Wells, C, Wilming, LG, Wynshaw-Boris, A, Yanagisawa, M, Yang, I, Yang, L, Yuan, Z, Zavolan, M, Zhu, Y, Zimmer, A, Carninci, P, Hayatsu, N, Hirozane-Kishikawa, T, Konno, H, Nakamura, M, Sakazume, N, Sato, K, Shiraki, T, Waki, K, Kawai, J, Aizawa, K, Arakawa, T, Fukuda, S, Hara, A, Hashizume, W, Imotani, K, Ishii, Y, Itoh, M, Kagawa, I, Miyazaki, A, Sakai, K, Sasaki, D, Shibata, K, Shinagawa, A, Yasunishi, A, Yoshino, M, Waterston, R, Lander, ES, Rogers, J, Birney, E, Hayashizaki, Y

المصدر: Nature. 420(6915):563-573

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1928448

المؤلفون: Fu, Shuai, Bury, Luke A.D., Eum, Jaejin, Wynshaw-Boris, Anthony

المساهمون: National Institutes of Health, National Institute of Mental Health

المصدر: The American Journal of Human Genetics ; volume 110, issue 5, page 826-845 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.03.015
https://api.elsevier.com/content/article/PII:S000292972300099X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292972300099X?httpAccept=text/plain

المؤلفون: Marchetto, MC, Belinson, H, Tian, Y, Freitas, BC, Fu, C, Vadodaria, KC, Beltrao-Braga, PC, Trujillo, CA, Mendes, APD, Padmanabhan, K, Nunez, Y, Ou, J, Ghosh, H, Wright, R, Brennand, KJ, Pierce, K, Eichenfield, L, Pramparo, T, Eyler, LT, Barnes, CC, Courchesne, E, Geschwind, DH, Gage, FH, Wynshaw-Boris, A, Muotri, AR

المصدر: Molecular Psychiatry. 22(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Neurosciences, Stem Cell Research - Induced Pluripotent Stem Cell, Pediatric, Genetics, Stem Cell Research, Regenerative Medicine, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Stem Cell Research - Nonembryonic - Human, Mental Health, Clinical Research, Stem Cell Research - Nonembryonic - Non-Human, Autism, Stem Cell Research - Induced Pluripotent Stem Cell - Human, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Mental health, Neurological, Adolescent, Autism Spectrum Disorder, Autistic Disorder, Brain, Cell Proliferation, Cells, Cultured, Child, Child, Preschool, Female, Fibroblasts, Humans, Induced Pluripotent Stem Cells, Insulin-Like Growth Factor I, Male, Neural Stem Cells, Neurogenesis, Neurons, Tissue Culture Techniques, beta Catenin, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5f29t1rd
https://escholarship.org/content/qt5f29t1rd/qt5f29t1rd.pdf

المؤلفون: Bershteyn, Marina, Nowakowski, Tomasz J, Pollen, Alex A, Di Lullo, Elizabeth, Nene, Aishwarya, Wynshaw-Boris, Anthony, Kriegstein, Arnold R

المصدر: Cell Stem Cell. 20(4)

مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Stem Cell Research - Nonembryonic - Human, Clinical Research, Stem Cell Research, Brain Disorders, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research - Embryonic - Human, Stem Cell Research - Induced Pluripotent Stem Cell, Regenerative Medicine, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Apoptosis, Cell Movement, Cerebrum, Chromosome Duplication, Classical Lissencephalies and Subcortical Band Heterotopias, Cytokinesis, Epithelium, Female, Humans, Induced Pluripotent Stem Cells, Infant, Infant, Newborn, Lissencephaly, Male, Middle Aged, Mitosis, Neuroglia, Neurons, Organoids, cerebral organoids, human lissencephaly, migration, outer radial glia, spindle orientation, Biological Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1sd77400

المؤلفون: Mustafi, Debarshi, Kevany, Brian, Bai, Xiaodong, Golczak, Marcin, Adams, Mark, Wynshaw-Boris, Anthony, Palczewski, Krzysztof

المصدر: Human Molecular Genetics. 25(20)

مصطلحات موضوعية: Animals, Gene Expression Profiling, Humans, Macaca fascicularis, Mammals, Mice, Rats, Retinal Cone Photoreceptor Cells, Retinal Rod Photoreceptor Cells, Sequence Analysis, RNA, Transcriptome

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8hd6z1d1

المؤلفون: Belinson, H, Nakatani, J, Babineau, BA, Birnbaum, RY, Ellegood, J, Bershteyn, M, McEvilly, RJ, Long, JM, Willert, K, Klein, OD, Ahituv, N, Lerch, JP, Rosenfeld, MG, Wynshaw-Boris, A

المصدر: Molecular psychiatry. 21(10)

مصطلحات موضوعية: Brain, Neurons, Animals, Humans, Mice, Adaptor Proteins, Signal Transducing, T-Box Domain Proteins, Nerve Tissue Proteins, Phosphoproteins, Behavior, Animal, Stereotyped Behavior, Stereotypic Movement Disorder, Signal Transduction, POU Domain Factors, Wnt Proteins, beta Catenin, Neural Stem Cells, Wnt Signaling Pathway, Dishevelled Proteins, Psychiatry, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/07k626vj

المؤلفون: Belinson, Haim, Savage, Adam K, Fadrosh, Douglas, Kuo, Yien-Ming, Lin, Din, Valladares, Ricardo, Nusse, Ysbrand, Wynshaw-Boris, Anthony, Lynch, Susan V, Locksley, Richard M, Klein, Ophir D

المصدر: JCI Insight. 1(10)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Microbiome, Nutrition, Digestive Diseases, Genetics, 2.1 Biological and endogenous factors, Inflammatory and immune system, Oral and gastrointestinal, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/84x3b081
https://escholarship.org/content/qt84x3b081/qt84x3b081.pdf

المؤلفون: David R. Sweet, Neelakantan T. Vasudevan, Liyan Fan, Chloe E. Booth, Komal S. Keerthy, Xudong Liao, Vinesh Vinayachandran, Yoichi Takami, Derin Tugal, Nikunj Sharma, E. Ricky Chan, Lilei Zhang, Yulan Qing, Stanton L. Gerson, Chen Fu, Anthony Wynshaw-Boris, Panjamaporn Sangwung, Lalitha Nayak, Paul Holvoet, Keiichiro Matoba, Yuan Lu, Guangjin Zhou, Mukesh K. Jain

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/47134c5fedda43b5b639f09776f89f28

المؤلفون: Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Perez Palma, Eduardo, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: The American Journal of Human Genetics ; volume 109, issue 8, page 1353-1365 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.07.003
https://api.elsevier.com/content/article/PII:S000292972200307X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292972200307X?httpAccept=text/plain

المؤلفون: Toyo-oka, Kazuhito, Wachi, Tomoka, Hunt, Robert F, Baraban, Scott C, Taya, Shinichiro, Ramshaw, Hayley, Kaibuchi, Kozo, Schwarz, Quenten P, Lopez, Angel F, Wynshaw-Boris, Anthony

المصدر: Journal of Neuroscience. 34(36)

مصطلحات موضوعية: Brain Disorders, Regenerative Medicine, Stem Cell Research - Nonembryonic - Non-Human, Stem Cell Research, Neurosciences, 1.1 Normal biological development and functioning, Underpinning research, Neurological, 14-3-3 Proteins, Actins, Animals, Catenins, Cell Movement, Cell Proliferation, Cerebral Cortex, Mice, Mice, Inbred C57BL, Neural Stem Cells, Neurogenesis, Neurons, Protein Binding, 14-3-3, delta-catenin, neurogenesis, neuronal differentiation, neuronal migration, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8h93d885

المؤلفون: Ohata, Shinya, Nakatani, Jin, Herranz-Pérez, Vicente, Cheng, JrGang, Belinson, Haim, Inubushi, Toshiro, Snider, William D, García-Verdugo, Jose Manuel, Wynshaw-Boris, Anthony, Alvarez-Buylla, Arturo

المصدر: Neuron. 83(3)

مصطلحات موضوعية: Ependyma, Cilia, Animals, Mice, Transgenic, Mice, Hydrocephalus, Adaptor Proteins, Signal Transducing, Phosphoproteins, Signal Transduction, Cell Polarity, Dishevelled Proteins, Genetics, Neurosciences, Psychology, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/36v0m08r

المؤلفون: Bershteyn, Marina, Hayashi, Yohei, Desachy, Guillaume, Sami, Salma, Tsang, Kathryn, Wynshaw-Boris, Anthony, Kriegstein, Arnold, Hsiao, Edward, Weiss, Lauren, Yamanaka, Shinya

المصدر: Nature: New biology. 507(7490)

مصطلحات موضوعية: Aneuploidy, Animals, Cellular Reprogramming, Chromosomal Instability, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 17, Clone Cells, Fibroblasts, Humans, Induced Pluripotent Stem Cells, Karyotype, Karyotyping, Male, Mice, Models, Genetic, Ring Chromosomes, Uniparental Disomy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/31h011sn
https://escholarship.org/content/qt31h011sn/qt31h011sn.pdf

المؤلفون: Liao, Xudong, Shen, Yuyan, Zhang, Rongli, Sugi, Keiki, Vasudevan, Neelakantan T., Alaiti, M. Amer, Sweet, David R., Zhou, Lin, Qing, Yulan, Gerson, Stanton L., Fu, Chen, Wynshaw-Boris, Anthony, Hu, Rui, Schwartz, Martin A., Fujioka, Hisashi, Richardson, Brian, Cameron, Mark J., Hayashi, Hiroki, Stamler, Jonathan S., Jain, Mukesh K.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2018 May . 115(20), E4661-E4669.

URL الوصول: https://www.jstor.org/stable/26509540

المؤلفون: Joanna J. Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, Rachel Slaugh, Shamile Morgan, Joshua Rotenberg, Boris Keren, Cyril Mignot, Luis Escobar, Peter Turnpenny, Melissa Zuteck, Laurie H. Seaver, Rafal Ploski, Magdalena Dziembowska, Anthony Wynshaw-Boris, Abidemi Adegbola

المصدر: HGG Advances, Vol 2, Iss 3, Pp 100033- (2021)

مصطلحات موضوعية: Neurodevelopment, Developmental Delay, Intellectual Disability, Macrocephaly, Somatic growth anomaly, PTPN4, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000142; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/5c1338c329174b3086e0712d58725396

المؤلفون: Moon, Hyang Mi, Youn, Yong Ha, Pemble, Hayley, Yingling, Jessica, Wittmann, Torsten, Wynshaw-Boris, Anthony

المصدر: Human Molecular Genetics. 23(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Genetics, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Animals, Carrier Proteins, Cells, Cultured, Centrosome, Cerebral Cortex, Chromosome Segregation, Dyneins, HEK293 Cells, Humans, Lissencephaly, Mice, Microtubule-Associated Proteins, Microtubules, Mitosis, Mutation, Neurons, Protein Stability, Spindle Apparatus, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7sj2s0wx

المؤلفون: Kriegstein, Arnold, Hsiao, Edward, Weiss, Lauren, Bershteyn, M, Hayashi, Y, Desachy, G, Hsiao, EC, Sami, S, Tsang, KM, Yamanaka, S, Wynshaw-Boris, A

URL الوصول: https://escholarship.org/uc/item/1z96k078

المؤلفون: Young-Lin, Nichole, Shalev, Sarah, Glenn, Orit A, Gardner, Marisa, Lee, Chung, Wynshaw-Boris, Anthony, Gelfand, Amy A

المصدر: Neurology. 81(24)

مصطلحات موضوعية: Brain Disorders, Neurodegenerative, Amino Acid Metabolism, Inborn Errors, Brain Diseases, Metabolic, Diagnosis, Differential, Glutaryl-CoA Dehydrogenase, Humans, Infant, Male, Spasms, Infantile, Clinical Sciences, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0vw2f73b

المؤلفون: Chow, Maggie L, Pramparo, Tiziano, Winn, Mary E, Barnes, Cynthia Carter, Li, Hai-Ri, Weiss, Lauren, Fan, Jian-Bing, Murray, Sarah, April, Craig, Belinson, Haim, Fu, Xiang-Dong, Wynshaw-Boris, Anthony, Schork, Nicholas J, Courchesne, Eric

المصدر: PLOS Genetics. 8(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Pediatric, Autism, Brain Disorders, Clinical Research, Mental Health, Biotechnology, Neurosciences, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Aetiology, Underpinning research, Mental health, Neurological, Adolescent, Adult, Age Factors, Autistic Disorder, Autopsy, Cell Cycle Proteins, Cell Differentiation, Child, Child, Preschool, DNA Copy Number Variations, Female, Gene Deletion, Gene Expression Regulation, Gene Regulatory Networks, Genome, Human, Humans, Male, Middle Aged, Neurons, Prefrontal Cortex, Signal Transduction, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/172879gx