المؤلفون: Yilmaz, Feyza, Gurusamy, Umamaheswaran, Mosley, Trenell J, Hallast, Pille, Kim, Kwondo, Mostovoy, Yulia, Purcell, Ryan H, Shaikh, Tamim H, Zwick, Michael E, Kwok, Pui-Yan, Lee, Charles, Mulle, Jennifer G

المصدر: Genome Medicine. 15(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Humans, Segmental Duplications, Genomic, Chromosome Mapping, Genomics, Syndrome, Haplotypes, DNA Copy Number Variations, 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6cv3233cTest

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

الوصول الحر: https://escholarship.org/uc/item/3tc3h13fTest

المؤلفون: Purcell, Ryan, Sefik, Esra, Werner, Erica, King, Alexia, Mosley, Trenell, Merritt-Garza, Megan, Chopra, Pankaj, McEachin, Zachary, Karne, Sridhar, Raj, Nisha, Vaglio, Brandon, Sullivan, Dylan, Firestein, Bonnie, Tilahun, Kedamawit, Robinette, Maxine, Warren, Steven, Wen, Zhexing, Faundez, Victor, Sloan, Steven, Bassell, Gary, Mulle, Jennifer

مصطلحات موضوعية: Schizophrenia, Mitochondrion, Transcriptome

العلاقة: https://dx.doi.org/10.1101/2023.01.27.525748Test; https://dx.doi.org/10.5061/dryad.b2rbnzsmmTest; https://dx.doi.org/10.5281/zenodo.7977914Test

الإتاحة: https://doi.org/10.5281/zenodo.797791510.1101/2023.01.27.52574810.5061/dryad.b2rbnzsmm10.5281/zenodo.7977914Test

المؤلفون: Pollak, Rebecca M., Mortillo, Michael, Murphy, Melissa M., Mulle, Jennifer G.

المساهمون: National Institute of Mental Health

المصدر: Journal of Autism and Developmental Disorders ; ISSN 0162-3257 1573-3432

مصطلحات موضوعية: Developmental and Educational Psychology

الإتاحة: https://doi.org/10.1007/s10803-023-06218-wTest

المؤلفون: Cable, Jennifer, Purcell, Ryan H, Robinson, Elise, Vorstman, Jacob AS, Chung, Wendy K, Constantino, John N, Sanders, Stephan J, Sahin, Mustafa, Dolmetsch, Ricardo E, Shah, Bina Maniar, Thurm, Audrey, Martin, Christa L, Bearden, Carrie E, Mulle, Jennifer G

المصدر: Annals of the New York Academy of Sciences. 1506(1)

مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Autism, Pediatric, Mental Health, Neurosciences, Schizophrenia, Behavioral and Social Science, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Mental health, Congresses as Topic, Genetic Variation, Humans, Mental Disorders, Neurodevelopmental Disorders, Penetrance, Research Report, autism, autism heterogeneity, autism spectrum disorder, copy number variant, intellectual disability, neurodevelopmental disorders, neuropsychiatric disorders, polygenic risk score, rare variants, schizophrenia, 3q29 deletion, TSC, 16p11, deletion, 22q11, 16p11.2 deletion, 22q11.2 deletion, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0gx8f83gTest

المؤلفون: Cleynen, Isabelle, Engchuan, Worrawat, Hestand, Matthew S, Heung, Tracy, Holleman, Aaron M, Johnston, H Richard, Monfeuga, Thomas, McDonald-McGinn, Donna M, Gur, Raquel E, Morrow, Bernice E, Swillen, Ann, Vorstman, Jacob AS, Bearden, Carrie E, Chow, Eva WC, van den Bree, Marianne, Emanuel, Beverly S, Vermeesch, Joris R, Warren, Stephen T, Owen, Michael J, Chopra, Pankaj, Cutler, David J, Duncan, Richard, Kotlar, Alex V, Mulle, Jennifer G, Voss, Anna J, Zwick, Michael E, Diacou, Alexander, Golden, Aaron, Guo, Tingwei, Lin, Jhih-Rong, Wang, Tao, Zhang, Zhengdong, Zhao, Yingjie, Marshall, Christian, Merico, Daniele, Jin, Andrea, Lilley, Brenna, Salmons, Harold I, Tran, Oanh, Holmans, Peter, Pardinas, Antonio, Walters, James TR, Demaerel, Wolfram, Boot, Erik, Butcher, Nancy J, Costain, Gregory A, Lowther, Chelsea, Evers, Rens, van Amelsvoort, Therese AMJ, van Duin, Esther, Vingerhoets, Claudia, Breckpot, Jeroen, Devriendt, Koen, Vergaelen, Elfi, Vogels, Annick, Crowley, T Blaine, McGinn, Daniel E, Moss, Edward M, Sharkus, Robert J, Unolt, Marta, Zackai, Elaine H, Calkins, Monica E, Gallagher, Robert S, Gur, Ruben C, Tang, Sunny X, Fritsch, Rosemarie, Ornstein, Claudia, Repetto, Gabriela M, Breetvelt, Elemi, Duijff, Sasja N, Fiksinski, Ania, Moss, Hayley, Niarchou, Maria, Murphy, Kieran C, Prasad, Sarah E, Daly, Eileen M, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan G, Buzzanca, Antonio, Fabio, Fabio Di, Digilio, Maria C, Pontillo, Maria, Marino, Bruno, Vicari, Stefano, Coleman, Karlene, Cubells, Joseph F, Ousley, Opal Y, Carmel, Miri, Gothelf, Doron, Mekori-Domachevsky, Ehud, Michaelovsky, Elena, Weinberger, Ronnie, Weizman, Abraham, Kushan, Leila, Jalbrzikowski, Maria, Armando, Marco, Eliez, Stéphan, Sandini, Corrado, Schneider, Maude

المصدر: Molecular psychiatry. 26(8)

مصطلحات موضوعية: International 22q11.2DS Brain and Behavior Consortium, Prevention, Serious Mental Illness, Genetics, Human Genome, Schizophrenia, Neurosciences, Mental Health, Clinical Research, Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, Mental health, Psychiatry, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1wx189csTest

المؤلفون: Sanchez Russo, Rossana, Gambello, Michael J, Murphy, Melissa M, Aberizk, Katrina, Black, Emily, Burrell, T Lindsey, Carlock, Grace, Cubells, Joseph F, Epstein, Michael T, Espana, Roberto, Goines, Katrina, Guest, Ryan M, Klaiman, Cheryl, Koh, Sookyong, Leslie, Elizabeth J, Li, Longchuan, Novacek, Derek M, Saulnier, Celine A, Sefik, Esra, Shultz, Sarah, Walker, Elaine, White, Stormi Pulver, Mulle, Jennifer Gladys

المصدر: Genetics in Medicine. 23(5)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Behavioral and Social Science, Brain Disorders, Autism, Neurosciences, Pediatric, Clinical Trials and Supportive Activities, Mental Health, Intellectual and Developmental Disabilities (IDD), Aetiology, Management of diseases and conditions, 7.3 Management and decision making, 2.1 Biological and endogenous factors, Mental health, Neurological, Autism Spectrum Disorder, Child, Chromosome Deletion, Developmental Disabilities, Humans, Intellectual Disability, Psychotic Disorders, Emory 3q29 Project, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/409646r1Test

المؤلفون: Sanders, Stephan J, Sahin, Mustafa, Hostyk, Joseph, Thurm, Audrey, Jacquemont, Sebastien, Avillach, Paul, Douard, Elise, Martin, Christa L, Modi, Meera E, Moreno-De-Luca, Andres, Raznahan, Armin, Anticevic, Alan, Dolmetsch, Ricardo, Feng, Guoping, Geschwind, Daniel H, Glahn, David C, Goldstein, David B, Ledbetter, David H, Mulle, Jennifer G, Pasca, Sergiu P, Samaco, Rodney, Sebat, Jonathan, Pariser, Anne, Lehner, Thomas, Gur, Raquel E, Bearden, Carrie E

المصدر: Nature Medicine. 25(10)

مصطلحات موضوعية: Neurosciences, Mental Health, Genetics, Human Genome, Genomics, Humans, Mental Disorders, Neuropsychiatry, Rare Diseases, Medical and Health Sciences, Immunology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/47f3c9khTest

المؤلفون: Pollak, Rebecca M., Tilmon, Jacob C., Murphy, Melissa M., Gambello, Michael J., Sanchez Russo, Rossana, Dormans, John P., Mulle, Jennifer G.

المساهمون: National Institutes of Health

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 11, page 2749-2756 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63384Test

المؤلفون: Pollak, Rebecca M., Burrell, T. Lindsey, Cubells, Joseph F., Klaiman, Cheryl, Murphy, Melissa M., Saulnier, Celine A., Walker, Elaine F., White, Stormi Pulver, Mulle, Jennifer G.

المساهمون: National Institute of Mental Health

المصدر: Journal of Autism and Developmental Disorders ; ISSN 0162-3257 1573-3432

مصطلحات موضوعية: Developmental and Educational Psychology

الإتاحة: https://doi.org/10.1007/s10803-023-06034-2Test