المؤلفون: Ragni, Margaret, Mead, Henry, de Jong, Ype, Kaczmarek, Radoslaw, Leavitt, Andrew, Long, Brian, Nugent, Diane, Sabatino, Denise, Fong, Sylvia, von Drygalski, Annette, Walsh, Christopher, Luxon, Bruce

المصدر: Blood Advances. 8(19)

مصطلحات موضوعية: Hemophilia A, Humans, Genetic Therapy, Liver, Dependovirus, Genetic Vectors, Factor VIII

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0258w8c5
https://escholarship.org/content/qt0258w8c5/qt0258w8c5.pdf

المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine, Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, OHeir, Emily, Ganesh, Vijay, Wojcik, Monica, Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha, Neil, Jennifer, Shao, Diane, Walsh, Christopher, Argilli, Emanuela, Le, Carolyn, Sherr, Elliott, Gleeson, Joseph, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay, Madden, Jill, Genetti, Casie, Beggs, Alan, Agrawal, Pankaj, Bujakowska, Kinga, Place, Emily, Pierce, Eric, Donkervoort, Sandra, Bönnemann, Carsten, Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong, White, Susan, Töpf, Ana, Straub, Volker, Fleming, Mark, Pollak, Martin, Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten, Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel, MacArthur, Daniel, Rehm, Heidi, Talkowski, Michael, Brand, Harrison, ODonnell-Luria, Anne

المصدر: American Journal of Human Genetics. 111(5)

مصطلحات موضوعية: CNV, GATK-gCNV, copy number variant, diagnostic yield, exome, variant classification, Humans, DNA Copy Number Variations, Rare Diseases, Exome, Male, Female, Exome Sequencing, Cohort Studies, Genetic Testing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3s20v4vs
https://escholarship.org/content/qt3s20v4vs/qt3s20v4vs.pdf

المؤلفون: McClellan, Jon, Zoghbi, Anthony, Buxbaum, Joseph, Cappi, Carolina, Crowley, James, Flint, Jonathan Frederic Rest, Grice, Dorothy, Gulsuner, Suleyman, Iyegbe, Conrad, Jain, Sanjeev, Kuo, Po-Hsiu, Lattig, Maria, Passos-Bueno, Maria, Purushottam, Meera, Stein, Dan, Sunshine, Anna, Susser, Ezra, Walsh, Christopher, Wootton, Olivia, King, Mary-Claire

المصدر: Neuron. 112(1)

مصطلحات موضوعية: 22q11 deletion, OCD, assortative mating, autism, bipolar disorder, causality, clinical heterogeneity, complex neuropsychiatric disease, consanguinity, de novo mutation, evolution, genetic drift, genetics, genomics, migration, polygenic inheritance, rare alleles, schizophrenia, selection, somatic mutation, Humans, Mutation, Mental Disorders

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/56t5h6n2
https://escholarship.org/content/qt56t5h6n2/qt56t5h6n2.pdf

المؤلفون: Garrison, McKinzie, Jang, Yeongjun, Bae, Taejeong, Cherskov, Adriana, Emery, Sarah, Fasching, Liana, Jones, Attila, Moldovan, John, Molitor, Cindy, Pochareddy, Sirisha, Peters, Mette, Shin, Joo, Wang, Yifan, Yang, Xiaoxu, Akbarian, Schahram, Chess, Andrew, Gage, Fred, Gleeson, Joseph, Kidd, Jeffrey, McConnell, Michael, Mills, Ryan, Moran, John, Park, Peter, Sestan, Nenad, Urban, Alexander, Vaccarino, Flora, Walsh, Christopher, Weinberger, Daniel, Wheelan, Sarah, Abyzov, Alexej

المصدر: Scientific Data. 10(1)

مصطلحات موضوعية: Humans, Autism Spectrum Disorder, Mosaicism, Genome, Brain, Genomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/22k8n83x
https://escholarship.org/content/qt22k8n83x/qt22k8n83x.pdf

المؤلفون: Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal, Cabrol, Christelle, Cilio, Maria, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph, Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha, Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, Piard, Juliette

المصدر: European Journal of Human Genetics. 31(9)

مصطلحات موضوعية: Humans, Nuclear Proteins, Epilepsy, Phenotype, Genotype, Genetic Association Studies, Neurodegenerative Diseases, Atrophy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/49z8f5t8
https://escholarship.org/content/qt49z8f5t8/qt49z8f5t8.pdf

المؤلفون: Linton, Oliver, Ruecker, Maximilian, Vogt, Michael, Walsh, Christopher

مصطلحات موضوعية: Economics - Econometrics

URL الوصول: http://arxiv.org/abs/2206.12152

المؤلفون: Shin, Taehwan, Song, Janet HT, Kosicki, Michael, Kenny, Connor, Beck, Samantha G, Kelley, Lily, Qian, Xuyu, Bonacina, Julieta, Papandile, Frances, Antony, Irene, Gonzalez, Dilenny, Scotellaro, Julia, Bushinsky, Evan M, Andersen, Rebecca E, Maury, Eduardo, Pennacchio, Len A, Doan, Ryan N, Walsh, Christopher A

مصطلحات موضوعية: Biological Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Mental Health, Human Genome, Autism, Clinical Research, Underpinning research, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Aetiology, Mental health, Human Accelerated Regions, IL1RAPL1, SIM1, Vista Enhancers, autism spectrum disorder, caMPRA, consanguineous families, conserved neural enhancers, noncoding regions, recessive variants

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4n55d0g9
https://escholarship.org/content/qt4n55d0g9/qt4n55d0g9.pdf

المؤلفون: Walsh, Christopher D., Edwards, Joanne, Insall, Robert H.

مصطلحات موضوعية: Electrical Engineering and Systems Science - Image and Video Processing, Computer Science - Computer Vision and Pattern Recognition, Quantitative Biology - Quantitative Methods, I.4.3, I.4.5

URL الوصول: http://arxiv.org/abs/2204.06849

المؤلفون: Sadler, James D., Walsh, Christopher A., Zhou, Ye, Li, Hui

مصطلحات موضوعية: Physics - Plasma Physics

URL الوصول: http://arxiv.org/abs/2203.08258

المؤلفون: Qian, Xuyu, DeGennaro, Ellen, Talukdar, Maya, Akula, Shyam, Lai, Abbe, Shao, Diane, Gonzalez, Dilenny, Marciano, Jack, Smith, Richard, Hylton, Norma, Yang, Edward, Bazan, J, Barrett, Lee, Yeh, Rebecca, Hill, R, Beck, Samantha, Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer, Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish, Barnett, Christopher, Arts, Peer, Sherr, Elliott, Lupski, James, Walsh, Christopher, Argilli, Emanuela

المصدر: Developmental Cell. 57(20)

مصطلحات موضوعية: apoptosis, cerebral cortex, congenital brain malformation, corpus callosum, development, genetics, kinesin, migration, organoid, Humans, Animals, Mice, Kinesins, Neurons, Focal Adhesion Protein-Tyrosine Kinases, Apoptosis, Brain

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9rq571mk
https://escholarship.org/content/qt9rq571mk/qt9rq571mk.pdf

المؤلفون: Bae, Taejeong, Fasching, Liana, Wang, Yifan, Shin, Joo Heon, Suvakov, Milovan, Jang, Yeongjun, Norton, Scott, Dias, Caroline, Mariani, Jessica, Jourdon, Alexandre, Wu, Feinan, Panda, Arijit, Pattni, Reenal, Chahine, Yasmine, Yeh, Rebecca, Roberts, Rosalinda C, Huttner, Anita, Kleinman, Joel E, Hyde, Thomas M, Straub, Richard E, Walsh, Christopher A, Urban, Alexander E, Leckman, James F, Weinberger, Daniel R, Vaccarino, Flora M, Abyzov, Alexej, Park, Peter J, Sestan, Nenad, Weinberger, Daniel, Moran, John V, Gage, Fred H, Gleeson, Joseph, Mathern, Gary, Courchesne, Eric, Roy, Subhojit, Chess, Andrew J, Akbarian, Schahram, Bizzotto, Sara, Coulter, Michael, D’Gama, Alissa, Ganz, Javier, Hill, Robert, Huang, August Yue, Khoshkhoo, Sattar, Kim, Sonia, Lee, Alice, Lodato, Michael, Maury, Eduardo A, Miller, Michael, Borges-Monroy, Rebeca, Rodin, Rachel, Zhou, Zinan, Bohrson, Craig, Chu, Chong, Cortes-Ciriano, Isidro, Dou, Yanmei, Galor, Alon, Gulhan, Doga, Kwon, Minseok, Luquette, Joe, Sherman, Maxwell, Viswanadham, Vinay, Jones, Attila, Rosenbluh, Chaggai, Cho, Sean, Langmead, Ben, Thorpe, Jeremy, Erwin, Jennifer, Jaffe, Andrew, McConnell, Michael, Narurkar, Rujuta, Paquola, Apua, Shin, Jooheon, Straub, Richard, Molitor, Cindy, Peters, Mette, Linker, Sara, Reed, Patrick, Wang, Meiyan, Urban, Alexander, Zhou, Bo, Zhu, Xiaowei, Serres Amero, Aitor, Juan, David, Lobon, Irene, Marques-Bonet, Tomas, Solis Moruno, Manuel, Garcia Perez, Raquel, Povolotskaya, Inna, Soriano, Eduardo, Antaki, Danny, Averbuj, Dan

المصدر: Science. 377(6605)

مصطلحات موضوعية: Biotechnology, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Genetics, Autism, Pediatric, Mental Health, Human Genome, Underpinning research, 2.1 Biological and endogenous factors, Aetiology, 1.1 Normal biological development and functioning, Mental health, Aging, Autistic Disorder, Brain, Enhancer Elements, Genetic, Gene Expression Regulation, Humans, Mutagenesis, Mutation, Protein Binding, Transcription Factors, Whole Genome Sequencing, Brain Somatic Mosaicism Network§, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/17d0k7qw

المؤلفون: Walsh, Christopher A.

مصطلحات موضوعية: Physics - Plasma Physics, Physics - Computational Physics, Physics - Fluid Dynamics

URL الوصول: http://arxiv.org/abs/2110.01666

المؤلفون: Walsh, Christopher, Clark, Dan

مصطلحات موضوعية: Physics - Plasma Physics, Physics - Computational Physics

URL الوصول: http://arxiv.org/abs/2107.13036

المؤلفون: Walsh, Christopher, Florido, Ricardo, Bailly-Grandvaux, Mathieu, Suzuki-Vidal, Francisco, Chittenden, Jeremy, Crilly, Aidan, Gigosos, Marco, Mancini, Roberto, Pérez-Callejo, Gabriel, Vlachos, Christos, McGuffey, Christopher, Beg, Farhat, Santos, Joao

مصطلحات موضوعية: Physics - Plasma Physics, Physics - Computational Physics, Physics - Space Physics

URL الوصول: http://arxiv.org/abs/2107.13032

المؤلفون: Walsh, Christopher, Sadler, James, Davies, Jonathan

مصطلحات موضوعية: Physics - Plasma Physics, Physics - Computational Physics, Physics - Fluid Dynamics, Physics - Space Physics

URL الوصول: http://arxiv.org/abs/2107.12988

المؤلفون: Arran, Christopher, Dearling, Adam, Bradford, Philip, Hicks, George. S., Al-Atabi, Saleh, Antonelli, Luca, Ettlinger, Oliver C., Khan, Matthew, Read, Martin P., Glize, Kevin, Notley, Margaret, Walsh, Christopher A., Kingham, Robert J., Najmudin, Zulfikar, Ridgers, Christopher P., Woolsey, Nigel C.

مصطلحات موضوعية: Physics - Plasma Physics

URL الوصول: http://arxiv.org/abs/2105.07414

المؤلفون: Eisenhauer, Philipp, Gabler, Janoś, Janys, Lena, Walsh, Christopher

مصطلحات موضوعية: Economics - Econometrics

URL الوصول: http://arxiv.org/abs/2103.01115

المؤلفون: Wang, Yifan, Bae, Taejeong, Thorpe, Jeremy, Sherman, Maxwell A, Jones, Attila G, Cho, Sean, Daily, Kenneth, Dou, Yanmei, Ganz, Javier, Galor, Alon, Lobon, Irene, Pattni, Reenal, Rosenbluh, Chaggai, Tomasi, Simone, Tomasini, Livia, Yang, Xiaoxu, Zhou, Bo, Akbarian, Schahram, Ball, Laurel L, Bizzotto, Sara, Emery, Sarah B, Doan, Ryan, Fasching, Liana, Jang, Yeongjun, Juan, David, Lizano, Esther, Luquette, Lovelace J, Moldovan, John B, Narurkar, Rujuta, Oetjens, Matthew T, Rodin, Rachel E, Sekar, Shobana, Shin, Joo Heon, Soriano, Eduardo, Straub, Richard E, Zhou, Weichen, 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

المصدر: Genome Biology. 22(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Neurosciences, Human Genome, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Alleles, Brain, Chromosome Mapping, Computational Biology, Genetic Association Studies, Genetic Variation, Genomics, Germ Cells, High-Throughput Nucleotide Sequencing, Humans, Organ Specificity, Polymorphism, Single Nucleotide, Brain Somatic Mosaicism Network, Environmental Sciences, Information and Computing Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9hk3g68p
https://escholarship.org/content/qt9hk3g68p/qt9hk3g68p.pdf

المؤلفون: Sadler, James D., Walsh, Christopher A., Li, Hui

المصدر: Phys. Rev. Lett. 126, 075001 (2021)

مصطلحات موضوعية: Physics - Plasma Physics, Physics - Fluid Dynamics

URL الوصول: http://arxiv.org/abs/2009.04562

المؤلفون: Smith, Richard S, Florio, Marta, Akula, Shyam K, Neil, Jennifer E, Wang, Yidi, Hill, R Sean, Goldman, Melissa, Mullally, Christopher D, Reed, Nora, Bello-Espinosa, Luis, Flores-Sarnat, Laura, Monteiro, Fabiola Paoli, Erasmo, Casella B, Pinto E Vairo, Filippo, Morava, Eva, Barkovich, A James, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A, McCarroll, Steven A, Walsh, Christopher A

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 118(25)

مصطلحات موضوعية: Pediatric, Neurosciences, Genetics, Underpinning research, 1.1 Normal biological development and functioning, Neurological, Adult, Brain, Child, Female, Fetus, Gene Expression Regulation, Developmental, Humans, Infant, Infant, Newborn, Interneurons, Magnetic Resonance Imaging, Male, Mutation, Neocortex, Neurons, Parvalbumins, Phenotype, Polymicrogyria, RNA, Messenger, Single-Cell Analysis, Sodium-Potassium-Exchanging ATPase, cortex development, ATP1A3, developmental channelopathy, polymicrogyria, cortical malformation

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4w7538rn