المؤلفون: Lim, Elaine T, Uddin, Mohammed, De Rubeis, Silvia, Chan, Yingleong, Kamumbu, Anne S, Zhang, Xiaochang, D’Gama, Alissa M, Kim, Sonia N, Hill, Robert Sean, Goldberg, Arthur P, Poultney, Christopher, Minshew, Nancy J, Kushima, Itaru, Aleksic, Branko, Ozaki, Norio, Parellada, Mara, Arango, Celso, Penzol, Maria J, Carracedo, Angel, Kolevzon, Alexander, Hultman, Christina M, Weiss, Lauren A, Fromer, Menachem, Chiocchetti, Andreas G, Freitag, Christine M, Church, George M, Scherer, Stephen W, Buxbaum, Joseph D, Walsh, Christopher A

المصدر: Nature Neuroscience. 23(9)

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Autism Sequencing Consortium, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

الوصول الحر: https://escholarship.org/uc/item/7m59p28cTest

المؤلفون: Satterstrom, F Kyle, Kosmicki, Jack A, Wang, Jiebiao, Breen, Michael S, De Rubeis, Silvia, An, Joon-Yong, Peng, Minshi, Collins, Ryan, Grove, Jakob, Klei, Lambertus, Stevens, Christine, Reichert, Jennifer, Mulhern, Maureen S, Artomov, Mykyta, Gerges, Sherif, Sheppard, Brooke, Xu, Xinyi, Bhaduri, Aparna, Norman, Utku, Brand, Harrison, Schwartz, Grace, Nguyen, Rachel, Guerrero, Elizabeth E, Dias, Caroline, Consortium, Autism Sequencing, Aleksic, Branko, Anney, Richard, Barbosa, Mafalda, Bishop, Somer, Brusco, Alfredo, Bybjerg-Grauholm, Jonas, Carracedo, Angel, Chan, Marcus CY, Chiocchetti, Andreas G, Chung, Brian HY, Coon, Hilary, Cuccaro, Michael L, Curró, Aurora, Bernardina, Bernardo Dalla, Doan, Ryan, Domenici, Enrico, Dong, Shan, Fallerini, Chiara, Fernández-Prieto, Montserrat, Ferrero, Giovanni Battista, Freitag, Christine M, Fromer, Menachem, Gargus, J Jay, Geschwind, Daniel, Giorgio, Elisa, González-Peñas, Javier, Guter, Stephen, Halpern, Danielle, Hansen-Kiss, Emily, He, Xin, Herman, Gail E, Hertz-Picciotto, Irva, Hougaard, David M, Hultman, Christina M, Ionita-Laza, Iuliana, Jacob, Suma, Jamison, Jesslyn, Jugessur, Astanand, Kaartinen, Miia, Knudsen, Gun Peggy, Kolevzon, Alexander, Kushima, Itaru, Lee, So Lun, Lehtimäki, Terho, Lim, Elaine T, Lintas, Carla, Lipkin, W Ian, Lopergolo, Diego, Lopes, Fátima, Ludena, Yunin, Maciel, Patricia, Magnus, Per, Mahjani, Behrang, Maltman, Nell, Manoach, Dara S, Meiri, Gal, Menashe, Idan, Miller, Judith, Minshew, Nancy, Montenegro, Eduarda MS, Moreira, Danielle, Morrow, Eric M, Mors, Ole, Mortensen, Preben Bo, Mosconi, Matthew, Muglia, Pierandrea, Neale, Benjamin M, Nordentoft, Merete, Ozaki, Norio, Palotie, Aarno, Parellada, Mara, Passos-Bueno, Maria Rita, Pericak-Vance, Margaret, Persico, Antonio M, Pessah, Isaac

المصدر: Cell. 180(3)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Mental Health, Pediatric, Human Genome, Clinical Research, Autism, Intellectual and Developmental Disabilities (IDD), Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Autistic Disorder, Case-Control Studies, Cell Lineage, Cerebral Cortex, Cohort Studies, Exome, Female, Gene Expression Regulation, Developmental, Gene Frequency, Genetic Predisposition to Disease, Humans, Male, Mutation, Missense, Neurobiology, Neurons, Phenotype, Sex Factors, Single-Cell Analysis, Exome Sequencing, Autism Sequencing Consortium, iPSYCH-Broad Consortium, autism spectrum disorder, cell type, cytoskeleton, excitatory neurons, excitatory-inhibitory balance, exome sequencing, genetics, inhibitory neurons, liability, neurodevelopment, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3gk8w6xrTest

المؤلفون: Yeo, Nan Cher, Chavez, Alejandro, Lance-Byrne, Alissa, Chan, Yingleong, Menn, David, Milanova, Denitsa, Kuo, Chih-Chung, Guo, Xiaoge, Sharma, Sumana, Tung, Angela, Cecchi, Ryan J, Tuttle, Marcelle, Pradhan, Swechchha, Lim, Elaine T, Davidsohn, Noah, Ebrahimkhani, Mo R, Collins, James J, Lewis, Nathan E, Kiani, Samira, Church, George M

المصدر: Nature Methods. 15(8)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Biotechnology, Genetics, Human Genome, CRISPR-Associated Protein 9, CRISPR-Cas Systems, Gene Expression Regulation, Gene Silencing, Genes, Synthetic, HEK293 Cells, Humans, Methyl-CpG-Binding Protein 2, RNA, Guide, Kinetoplastida, Recombinant Fusion Proteins, Repressor Proteins, Technology, Medical and Health Sciences, Developmental Biology, Biological sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7fr074w6Test

المؤلفون: Sarker, Shaoli, Eshaque, Tamannyat Binte, Soorajkumar, Anjana, Nassir, Nasna, Zehra, Binte, Kanta, Shayla Imam, Rahaman, Md Atikur, Islam, Amirul, Akter, Shimu, Ali, Mohammad Kawsar, Mim, Rabeya Akter, Uddin, K M Furkan, Chowdhury, Mohammod Shah Jahan, Shams, Nusrat, Baqui, Md Abdul, Lim, Elaine T, Akter, Hosneara, Woodbury-Smith, Marc, Uddin, Mohammed

المساهمون: Genomics and Computational Biology, Molecular, Cell and Cancer Biology

المصدر: Scientific reports ; 13 ; 1 ; 21547 ; England

مصطلحات موضوعية: Behavioural genetics, Clinical genetics, Cytogenetics, Development, Diseases, Diseases of the nervous system, Genotype, Medical genetics, Mutation, Neurodevelopmental disorders, Neurological disorders

العلاقة: Scientific Reports; https://doi.org/10.1038/s41598-023-48982-wTest; Sarker S, Eshaque TB, Soorajkumar A, Nassir N, Zehra B, Kanta SI, Rahaman MA, Islam A, Akter S, Ali MK, Mim RA, Uddin KMF, Chowdhury MSJ, Shams N, Baqui MA, Lim ET, Akter H, Woodbury-Smith M, Uddin M. Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population. Sci Rep. 2023 Dec 6;13(1):21547. doi:10.1038/s41598-023-48982-w. PMID: 38057384; PMCID: PMC10700514.; http://hdl.handle.net/20.500.14038/52872Test

الإتاحة: https://doi.org/10.1038/s41598-023-48982-wTest
https://doi.org/20.500.14038/52872Test
https://hdl.handle.net/20.500.14038/52872Test

المؤلفون: Smullen, Molly, Olson, Meagan N, Reichert, Julia M, Dawes, Pepper, Murray, Liam F, Baer, Christina E, Wang, Qi, Readhead, Benjamin, Church, George M, Lim, Elaine T, Chan, Yingleong

المساهمون: Microbiology and Physiological Systems, Molecular, Cell and Cancer Biology, Neurology, NeuroNexus Institute, Program in Bioinformatics and Integrative Biology

المصدر: Cell reports methods ; 3 ; 9 ; 100570 ; United States

مصطلحات موضوعية: CP: Stem cell, bioinformatics, deconvolution, differentiation, flow cytometry, genomics, iPSCs, multiplex, organoids, reprogramming, sequencing

العلاقة: Cell Reports Methods; https://doi.org/10.1016/j.crmeth.2023.100570Test; Smullen M, Olson MN, Reichert JM, Dawes P, Murray LF, Baer CE, Wang Q, Readhead B, Church GM, Lim ET, Chan Y. Reliable multiplex generation of pooled induced pluripotent stem cells. Cell Rep Methods. 2023 Sep 25;3(9):100570. doi:10.1016/j.crmeth.2023.100570. Epub 2023 Aug 31. PMID: 37751688; PMCID: PMC10545906.; http://hdl.handle.net/20.500.14038/52637Test

الإتاحة: https://doi.org/10.1016/j.crmeth.2023.100570Test
https://doi.org/20.500.14038/52637Test
https://hdl.handle.net/20.500.14038/52637Test

المؤلفون: Smullen, Molly, Olson, Meagan N, Murray, Liam F, Suresh, Madhusoodhanan, Yan, Guang, Dawes, Pepper, Barton, Nathaniel J, Mason, Jivanna N, Zhang, Yucheng, Fernandez-Fontaine, Aria A, Church, George M, Mastroeni, Diego, Wang, Qi, Lim, Elaine T, Chan, Yingleong, Readhead, Benjamin

المساهمون: Molecular, Cell and Cancer Biology, Neurology, NeuroNexus Institute, Program in Bioinformatics and Integrative Biology

المصدر: Scientific reports ; 13 ; 1 ; 10405 ; United States ; England

العلاقة: Scientific Reports; https://doi.org/10.1038/s41598-023-37541-yTest; Smullen M, Olson MN, Murray LF, Suresh M, Yan G, Dawes P, Barton NJ, Mason JN, Zhang Y, Fernandez-Fontaine AA, Church GM, Mastroeni D, Wang Q, Lim ET, Chan Y, Readhead B. Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus 10398A>G. Sci Rep. 2023 Jun 27;13(1):10405. doi:10.1038/s41598-023-37541-y. PMID: 37369829; PMCID: PMC10300032.; http://hdl.handle.net/20.500.14038/52419Test

الإتاحة: https://doi.org/10.1038/s41598-023-37541-yTest
https://doi.org/20.500.14038/52419Test
https://hdl.handle.net/20.500.14038/52419Test

المؤلفون: Kosaji, Noor, Zehra, Binte, Nassir, Nasna, Tambi, Richa, Orszulak, Adrian R., Lim, Elaine T., Berdiev, Bakhrom K., Woodbury-Smith, Marc, Uddin, Mohammed

المصدر: Med ; volume 4, issue 4, page 217-219 ; ISSN 2666-6340

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1016/j.medj.2023.03.002Test
https://api.elsevier.com/content/article/PII:S2666634023000983?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666634023000983?httpAccept=text/plainTest

المؤلفون: Coulter, Michael E, Dorobantu, Cristina M, Lodewijk, Gerrald A, Delalande, François, Cianferani, Sarah, Ganesh, Vijay S, Smith, Richard S, Lim, Elaine T, Xu, C Shan, Pang, Song, Wong, Eric T, Lidov, Hart GW, Calicchio, Monica L, Yang, Edward, Gonzalez, Dilenny M, Schlaeger, Thorsten M, Mochida, Ganeshwaran H, Hess, Harald, Lee, Wei-Chung Allen, Lehtinen, Maria K, Kirchhausen, Tomas, Haussler, David, Jacobs, Frank MJ, Gaudin, Raphael, Walsh, Christopher A

المصدر: Cell Reports. 24(4)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Neurosciences, Brain Disorders, Pediatric, Clinical Research, Stem Cell Research, Congenital Structural Anomalies, Rare Diseases, Stem Cell Research - Nonembryonic - Non-Human, Underpinning research, 1.1 Normal biological development and functioning, Adult, Animals, Brain, Choroid Plexus, Endosomal Sorting Complexes Required for Transport, Extracellular Vesicles, Hedgehog Proteins, Humans, Infant, Newborn, Mice, NIH 3T3 Cells, Vesicular Transport Proteins, CHMP1A, ESCRT, extracellular vesicles, microcephaly, multivesicular body, neurodevelopment, sonic hedgehog, Medical Physiology, Biological sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8m34g3jcTest

المؤلفون: Lim, Elaine T, Uddin, Mohammed, De Rubeis, Silvia, Chan, Yingleong, Kamumbu, Anne S, Zhang, Xiaochang, D'Gama, Alissa M, Kim, Sonia N, Hill, Robert Sean, Goldberg, Arthur P, Poultney, Christopher, Minshew, Nancy J, Kushima, Itaru, Aleksic, Branko, Ozaki, Norio, Parellada, Mara, Arango, Celso, Penzol, Maria J, Carracedo, Angel, Kolevzon, Alexander, Hultman, Christina M, Weiss, Lauren A, Fromer, Menachem, Chiocchetti, Andreas G, Freitag, Christine M, Church, George M, Scherer, Stephen W, Buxbaum, Joseph D, Walsh, Christopher A

المصدر: Nature Neuroscience. 20(9)

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Brain Disorders, Autism, Genetics, Pediatric, Mental Health, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Mental health, Autism Spectrum Disorder, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Humans, Mosaicism, Mutation, Missense, Zygote, Autism Sequencing Consortium, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2sv936mzTest

المؤلفون: Funes, Salome, Jung, Jonathan, Gadd, Del Hayden, Mosqueda, Michelle, Zhong, Jianjun, Shankaracharya, Unger, Matthew, Stallworth, Karly, Cameron, Debra, Rotunno, Melissa S., Dawes, Pepper, Fowler-Magaw, Megan, Keagle, Pamela J., McDonough, Justin A., Boopathy, Sivakumar, Sena-Esteves, Miguel, Nickerson, Jeffrey A., Lutz, Cathleen, Skarnes, William C., Lim, Elaine T.

المصدر: Nature Communications; 3/20/2024, Vol. 15 Issue 1, p1-25, 25p