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: Purcell, Ryan Donovan

المصدر: Streetnotes. 30(1)

مصطلحات موضوعية: New York City, Sketches, history, music, subway.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8wv0k142Test

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: 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: Pollak, Rebecca M., Purcell, Ryan H., Rutkowski, Timothy P., Malone, Tamika, Pachura, Kimberly J., Bassell, Gary J., Epstein, Michael P., Dawson, Paul A., Smith, Matthew R., Jones, Dean P., Zwick, Michael E., Warren, Stephen T., Caspary, Tamara, Weinshenker, David, Mulle, Jennifer G.

المساهمون: U.S. Department of Health & Human Services | National Institutes of Health, Emory University

المصدر: Translational Psychiatry ; volume 12, issue 1 ; ISSN 2158-3188

مصطلحات موضوعية: Biological Psychiatry, Cellular and Molecular Neuroscience, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1038/s41398-022-01824-1Test
https://www.nature.com/articles/s41398-022-01824-1.pdfTest
https://www.nature.com/articles/s41398-022-01824-1Test

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

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.003Test
https://api.elsevier.com/content/article/PII:S000292972200307X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292972200307X?httpAccept=text/plainTest

المؤلفون: Shiu, Fu Hung, Wong, Jennifer C., Yamamoto, Takahiro, Lala, Trisha, Purcell, Ryan H., Owino, Sharon, Zhu, Dan, Van Meir, Erwin G., Hall, Randy A., Escayg, Andrew

المساهمون: NIH

المصدر: Experimental Neurology ; volume 351, page 113994 ; ISSN 0014-4886

الإتاحة: https://doi.org/10.1016/j.expneurol.2022.113994Test
https://api.elsevier.com/content/article/PII:S001448862200019X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S001448862200019X?httpAccept=text/plainTest

المؤلفون: Sefik, Esra, Purcell, Ryan H., Aberizk, Katrina, Averbach, Hallie, Black, Emily, Burrell, T. Lindsey, Cambala, Shanthi, Carlock, Grace, Caspary, Tamara, Cubells, Joseph F., Cutler, David, Dawson, Paul A., Epstein, Michael T., Espana, Roberto, Gambello, Michael J., Goines, Katrina, Guest, Ryan M., Johnston, Henry R., Klaiman, Cheryl, Koh, Sookyong, Leslie, Elizabeth J., Li, Longchuan, Mak, Bryan, Malone, Tamika, Mosley, Trenell, Murphy, Melissa M., Papetti, Ava, Pollak, Rebecca M., Russo, Rossana Sanchez, Saulnier, Celine A., Shultz, Sarah, Sisodoya, Nikisha, Sloan, Steven, Warren, Stephen T., Weinshenker, David, Wen, Zhexing, White, Stormi Pulver, Zwick, Mike, Walker, Elaine F., Bassell, Gary J., Mulle, Jennifer G.

المساهمون: U.S. Department of Health & Human Services | NIH | National Institute of Mental Health

المصدر: Translational Psychiatry ; volume 11, issue 1 ; ISSN 2158-3188

مصطلحات موضوعية: Biological Psychiatry, Cellular and Molecular Neuroscience, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1038/s41398-021-01435-2Test
https://www.nature.com/articles/s41398-021-01435-2.pdfTest
https://www.nature.com/articles/s41398-021-01435-2Test

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, Averbach, Hallie, Bassell, Gary J., Cambala, Shanthi, Caspary, Tamara, Cutler, David, Dawson, Paul A., Epstein, Michael P., Johnston, Henry R., Mak, Bryan, Malone, Tamika, Mosley, Trenell, Papetti, Ava, Pollak, Rebecca M., Purcell, Ryan, Sisodoya, Nikisha, Sloan, Steven, Warren, Stephen T., Weinshenker, David, Wen, Zhexing, Zwick, Mike, Mulle, Jennifer Gladys

المصدر: Genetics in Medicine ; volume 23, issue 5, page 872-880 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-020-01053-1Test
http://www.nature.com/articles/s41436-020-01053-1.pdfTest
http://www.nature.com/articles/s41436-020-01053-1Test
https://api.elsevier.com/content/article/PII:S1098360021014350?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021014350?httpAccept=text/plainTest