المؤلفون: Weiner, Daniel, Ling, Emi, Erdin, Serkan, Tai, Derek, Yadav, Rachita, Grove, Jakob, Fu, Jack, Nadig, Ajay, Carey, Caitlin, Baya, Nikolas, Bybjerg-Grauholm, Jonas, Berretta, Sabina, Macosko, Evan, Sebat, Jonathan, OConnor, Luke, Hougaard, David, Børglum, Anders, Talkowski, Michael, McCarroll, Steven, Robinson, Elise

المصدر: Nature Genetics. 54(11)

مصطلحات موضوعية: Humans, Autistic Disorder, DNA Copy Number Variations, Chromosomes, Chromosome Deletion, Chromosomes, Human, Pair 16

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6h73c4tnTest
https://escholarship.org/content/qt6h73c4tn/qt6h73c4tn.pdfTest

المؤلفون: Urresti, Jorge, Zhang, Pan, Moran-Losada, Patricia, Yu, Nam-Kyung, Negraes, Priscilla D, Trujillo, Cleber A, Antaki, Danny, Amar, Megha, Chau, Kevin, Pramod, Akula Bala, Diedrich, Jolene, Tejwani, Leon, Romero, Sarah, Sebat, Jonathan, Yates III, John R, Muotri, Alysson R, Iakoucheva, Lilia M

المصدر: Molecular Psychiatry. 26(12)

مصطلحات موضوعية: Stem Cell Research - Induced Pluripotent Stem Cell - Human, Pediatric, Stem Cell Research - Induced Pluripotent Stem Cell, Brain Disorders, Mental Health, Autism, Stem Cell Research - Nonembryonic - Non-Human, Stem Cell Research, Neurosciences, Intellectual and Developmental Disabilities (IDD), 1.1 Normal biological development and functioning, Underpinning research, Neurological, Autism Spectrum Disorder, Autistic Disorder, Brain, Chromosome Deletion, Chromosomes, Human, Pair 16, DNA Copy Number Variations, Humans, Neurogenesis, Organoids, Proteomics, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0hw3w9g4Test

المؤلفون: Vysotskiy, Mikhail, Zhong, Xue, Miller-Fleming, Tyne W, Zhou, Dan, Cox, Nancy J, Weiss, Lauren A

المصدر: Genome Medicine. 13(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Mental Health, Genetic Testing, Schizophrenia, Autism, Biotechnology, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Mental health, Good Health and Well Being, Autism Spectrum Disorder, Autistic Disorder, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 16, DNA Copy Number Variations, DiGeorge Syndrome, Genotype, Humans, Intellectual Disability, Phenotype, Psychotic Disorders, Scavenger Receptors, Class F, Transcriptome, Tumor Suppressor Proteins, Copy number variants, Transcriptome imputation, Electronic health records, Psychiatric traits, Phenome-wide association studies, Autism Working Group of the Psychiatric Genomics Consortium^, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium^, Schizophrenia Working Group of the Psychiatric Genomics Consortium^, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2ft6z860Test

المؤلفون: Hu, Yao, Stilp, Adrienne M, McHugh, Caitlin P, Rao, Shuquan, Jain, Deepti, Zheng, Xiuwen, Lane, John, de Bellefon, Sébastian Méric, Raffield, Laura M, Chen, Ming-Huei, Yanek, Lisa R, Wheeler, Marsha, Yao, Yao, Ren, Chunyan, Broome, Jai, Moon, Jee-Young, de Vries, Paul S, Hobbs, Brian D, Sun, Quan, Surendran, Praveen, Brody, Jennifer A, Blackwell, Thomas W, Choquet, Hélène, Ryan, Kathleen, Duggirala, Ravindranath, Heard-Costa, Nancy, Wang, Zhe, Chami, Nathalie, Preuss, Michael H, Min, Nancy, Ekunwe, Lynette, Lange, Leslie A, Cushman, Mary, Faraday, Nauder, Curran, Joanne E, Almasy, Laura, Kundu, Kousik, Smith, Albert V, Gabriel, Stacey, Rotter, Jerome I, Fornage, Myriam, Lloyd-Jones, Donald M, Vasan, Ramachandran S, Smith, Nicholas L, North, Kari E, Boerwinkle, Eric, Becker, Lewis C, Lewis, Joshua P, Abecasis, Goncalo R, Hou, Lifang, O’Connell, Jeffrey R, Morrison, Alanna C, Beaty, Terri H, Kaplan, Robert, Correa, Adolfo, Blangero, John, Jorgenson, Eric, Psaty, Bruce M, Kooperberg, Charles, Walton, Russell T, Kleinstiver, Benjamin P, Tang, Hua, Loos, Ruth JF, Soranzo, Nicole, Butterworth, Adam S, Nickerson, Debbie, Rich, Stephen S, Mitchell, Braxton D, Johnson, Andrew D, Auer, Paul L, Li, Yun, Mathias, Rasika A, Lettre, Guillaume, Pankratz, Nathan, Laurie, Cathy C, Laurie, Cecelia A, Bauer, Daniel E, Conomos, Matthew P, Reiner, Alexander P, Consortium, NHLBI Trans-Omics for Precision Medicine

المصدر: American Journal of Human Genetics. 108(5)

مصطلحات موضوعية: Epidemiology, Biological Sciences, Health Sciences, Genetics, Biotechnology, Clinical Research, Hematology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adult, Aged, Chromosomes, Human, Pair 16, Datasets as Topic, Erythrocytes, Female, Gene Editing, Genetic Variation, Genome-Wide Association Study, HEK293 Cells, Humans, Male, Middle Aged, National Heart, Lung, and Blood Institute (U.S.), Phenotype, Quality Control, Reproducibility of Results, United States, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, base editing, red blood cell traits, whole-genome sequencing, 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/24j6v92rTest

المؤلفون: Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi JL, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H

المصدر: Genetics. 217(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Chromosome Breakpoints, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Craniofacial Abnormalities, Developmental Disabilities, Genomic Structural Variation, Heart Defects, Congenital, Humans, Intellectual Disability, Mental Disorders, Segmental Duplications, Genomic, Seizures, Williams Syndrome, segmental duplications, genome mapping, structural variation, genomic disorders, Developmental Biology, Biochemistry and cell biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/15562671Test

المؤلفون: Zhang, Lianjun, Nguyen, Le Xuan Truong, Chen, Ying-Chieh, Wu, Dijiong, Cook, Guerry J, Hoang, Dinh Hoa, Brewer, Casey J, He, Xin, Dong, Haojie, Li, Shu, Li, Man, Zhao, Dandan, Qi, Jing, Hua, Wei-Kai, Cai, Qi, Carnahan, Emily, Chen, Wei, Wu, Xiwei, Swiderski, Piotr, Rockne, Russell C, Kortylewski, Marcin, Li, Ling, Zhang, Bin, Marcucci, Guido, Kuo, Ya-Huei

المصدر: Nature Communications. 12(1)

مصطلحات موضوعية: Medicinal and Biomolecular Chemistry, Chemical Sciences, Pediatric, Pediatric Cancer, Rare Diseases, Cancer, Biotechnology, Childhood Leukemia, Stem Cell Research, Hematology, Pediatric Research Initiative, Genetics, 2.1 Biological and endogenous factors, Aetiology, Animals, Antineoplastic Agents, Calcium-Binding Proteins, Cell Cycle Proteins, Cell Survival, Chromosome Inversion, Chromosomes, Human, Pair 16, EGF Family of Proteins, GATA2 Transcription Factor, Guanine Nucleotide Exchange Factors, Histone Deacetylases, Humans, Karyopherins, Leukemia, Myeloid, Acute, Mice, MicroRNAs, Molecular Targeted Therapy, Myeloid Progenitor Cells, Neoplastic Stem Cells, Nuclear Proteins, Oncogene Proteins, Fusion, Repressor Proteins, Xenograft Model Antitumor Assays, ran GTP-Binding Protein

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4xm3c5w5Test

المؤلفون: Kim, So Hyun, Green‐Snyder, LeeAnne, Lord, Catherine, Bishop, Somer, Steinman, Kyle J, Bernier, Raphael, Hanson, Ellen, Goin‐Kochel, Robin P, Chung, Wendy K

المصدر: American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 183(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Neurosciences, Clinical Research, Behavioral and Social Science, Autism, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Autism Spectrum Disorder, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 16, Cognitive Dysfunction, DNA Copy Number Variations, Family, Female, Heterozygote, Humans, Intellectual Disability, Language, Male, Middle Aged, Siblings, Speech, Verbal Behavior, Young Adult, 16p11, deletion, duplication, autism, genetics, language profiles, 16p11.2 deletion, 16p11.2 duplication, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6h67t169Test

المؤلفون: Oz-Levi, Danit, Olender, Tsviya, Bar-Joseph, Ifat, Zhu, Yiwen, Marek-Yagel, Dina, Barozzi, Iros, Osterwalder, Marco, Alkelai, Anna, Ruzzo, Elizabeth K, Han, Yujun, Vos, Erica SM, Reznik-Wolf, Haike, Hartman, Corina, Shamir, Raanan, Weiss, Batia, Shapiro, Rivka, Pode-Shakked, Ben, Tatarskyy, Pavlo, Milgrom, Roni, Schvimer, Michael, Barshack, Iris, Imai, Denise M, Coleman-Derr, Devin, Dickel, Diane E, Nord, Alex S, Afzal, Veena, van Bueren, Kelly Lammerts, Barnes, Ralston M, Black, Brian L, Mayhew, Christopher N, Kuhar, Matthew F, Pitstick, Amy, Tekman, Mehmet, Stanescu, Horia C, Wells, James M, Kleta, Robert, de Laat, Wouter, Goldstein, David B, Pras, Elon, Visel, Axel, Lancet, Doron, Anikster, Yair, Pennacchio, Len A

المصدر: Nature. 571(7763)

مصطلحات موضوعية: Intestines, Chromosomes, Human, Pair 16, Animals, Mice, Transgenic, Mice, Knockout, Humans, Mice, Disease Models, Animal, Diarrhea, Pedigree, Gene Expression Regulation, Developmental, Sequence Deletion, Phenotype, Genes, Genes, Reporter, Transgenes, Female, Male, Enhancer Elements, Genetic, Transcriptional Activation, Genetic Loci, Transcriptome, Chromosomes, Human, Pair 16, Transgenic, Knockout, Disease Models, Animal, Gene Expression Regulation, Developmental, Reporter, Enhancer Elements, Genetic, Genetics, Human Genome, Biotechnology, Digestive Diseases, 2.1 Biological and endogenous factors, Oral and Gastrointestinal, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6dn666prTest

المؤلفون: Sønderby, Ida E, Gústafsson, Ómar, Doan, Nhat Trung, Hibar, Derrek P, Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dale, Anders M, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco JC, de Zubicaray, Greig I, de Zwarte, Sonja MC, Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans, Groenewold, Nynke A, Haavik, Jan, Håberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hillegers, Manon HJ, Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma EM, Kolskår, Knut K, Kwok, John B, Hellard, Stephanie Le, Leu, Costin, Liu, Jingyu, Lundervold, Astri J, Lundervold, Arvid, Martin, Nicholas G, Mather, Karen, Mathias, Samuel R, McCormack, Mark, McMahon, Katie L, McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Mühleisen, Thomas W, Murray, Robin, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M, Pike, Bruce, Prieto, Carlos

المصدر: Molecular Psychiatry. 25(3)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, Autism, Biomedical Imaging, Mental Health, Mental health, Adult, Autism Spectrum Disorder, Autistic Disorder, Basal Ganglia, Brain, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 16, DNA Copy Number Variations, Databases, Factual, Female, Globus Pallidus, Humans, Image Processing, Computer-Assisted, Intellectual Disability, Magnetic Resonance Imaging, Male, Middle Aged, Neurodevelopmental Disorders, Organ Size, Putamen, Schizophrenia, 16p11.2 European Consortium, for the ENIGMA-CNV working group, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3st935b1Test

المؤلفون: Xian, Rena R, Xie, Yi, Haley, Lisa M, Yonescu, Raluca, Pallavajjala, Aparna, Pittaluga, Stefania, Jaffe, Elaine S, Duffield, Amy S, McCall, Chad M, Gheith, Shereen MF, Gocke, Christopher D

المصدر: Blood Cancer Journal. 10(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Oncology and Carcinogenesis, Human Genome, Rare Diseases, Genetics, Hematology, Clinical Research, Cancer, Biotechnology, Lymphoma, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, CREB-Binding Protein, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 16, Female, Humans, Lymphoma, Follicular, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide, STAT6 Transcription Factor, Translocation, Genetic, Cardiorespiratory Medicine and Haematology, Cardiovascular medicine and haematology, Oncology and carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/39n9r2kjTest