المؤلفون: Li, Jianqiao, Hojlo, Margaret A, Chennuri, Sampath, Gujral, Nitin, Paterson, Heather L, Shefchek, Kent A, Genetti, Casie A, Cohn, Emily L, Sewalk, Kara C, Garvey, Emily A, Buttermore, Elizabeth D, Anderson, Nickesha C, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, John S, Haendel, Melissa A, Holm, Ingrid A, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A

المصدر: Journal of Medical Internet Research, Vol 23, Iss 3, p e21023 (2021)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

العلاقة: https://www.jmir.org/2021/3/e21023Test; https://doaj.org/toc/1438-8871Test

الوصول الحر: https://doaj.org/article/4b564d19670844b6a787c71480c30e1cTest

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: Benedetti, Maria Cristina, D'andrea, Tiziano, Colantoni, Alessio, Silachev, Denis, de Turris, Valeria, Boussadia, Zaira, Babenko, Valentina A., Volovikov, Egor A., Belikova, Lilia, Bogomazova, Alexandra N., Pepponi, Rita, Whye, Dosh, Buttermore, Elizabeth D., Tartaglia, Gian Gaetano, Lagarkova, Maria A., Katanaev, Vladimir L., Musayev, Ilya, Martinelli, Simone, Fucile, Sergio, Rosa, Alessandro

المساهمون: Benedetti, Maria Cristina, D'Andrea, Tiziano, Colantoni, Alessio, Silachev, Deni, de Turris, Valeria, Boussadia, Zaira, Babenko, Valentina A., Volovikov, Egor A., Belikova, Lilia, Bogomazova, Alexandra N., Pepponi, Rita, Whye, Dosh, Buttermore, Elizabeth D., Tartaglia, Gian Gaetano, Lagarkova, Maria A., Katanaev, Vladimir L., Musayev, Ilya, Martinelli, Simone, Fucile, Sergio, Rosa, Alessandro

مصطلحات موضوعية: Encephalopathy, GNAO1, Induced pluripotent stem cell, Movement disorder, neural rosette, wnt

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38434323; volume:10; issue:5; numberofpages:17; journal:HELIYON; https://hdl.handle.net/11573/1704847Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85186464713

الإتاحة: https://doi.org/10.1016/j.heliyon.2024.e26656Test
https://hdl.handle.net/11573/1704847Test

المؤلفون: Saffari, Afshin, Brechmann, Barbara, Böger, Cedric, Saber, Wardiya Afshar, Jumo, Hellen, Whye, Dosh, Wood, Delaney, Wahlster, Lara, Alecu, Julian E., Ziegler, Marvin, Scheffold, Marlene, Winden, Kellen, Hubbs, Jed, Buttermore, Elizabeth D., Barrett, Lee, Borner, Georg H. H., Davies, Alexandra K., Ebrahimi-Fakhari, Darius, Sahin, Mustafa

المساهمون: BCH | Manton Center for Orphan Disease Research, Boston Children’s Hospital, U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke, Deutsche Forschungsgemeinschaft, Studienstiftung des Deutschen Volkes, Deutscher Akademischer Austauschdienst, U.S. Department of Health & Human Services | National Institutes of Health

المصدر: Nature Communications ; volume 15, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-023-44264-1Test
https://www.nature.com/articles/s41467-023-44264-1.pdfTest
https://www.nature.com/articles/s41467-023-44264-1Test

المؤلفون: Afshar-Saber, Wardiya, Chen, Cidi, Teaney, Nicole A., Kim, Kristina, Yang, Ziqin, Gasparoli, Federico M., Ebrahimi-Fakhari, Darius, Buttermore, Elizabeth D., Pin-Fang Chen, Ivy, Pearl, Phillip L., Sahin, Mustafa

المساهمون: NIH

المصدر: Stem Cell Research ; page 103424 ; ISSN 1873-5061

الإتاحة: https://doi.org/10.1016/j.scr.2024.103424Test
https://api.elsevier.com/content/article/PII:S1873506124001223?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1873506124001223?httpAccept=text/plainTest

المؤلفون: Shum, Carole, Han, Sang Yeon, Thiruvahindrapuram, Bhooma, Wang, Zhuozhi, de Rijke, Jill, Zhang, Benjamin, Sundberg, Maria, Chen, Cidi, Buttermore, Elizabeth D., Makhortova, Nina, Howe, Jennifer, Sahin, Mustafa, Scherer, Stephen W.

المساهمون: Canada Foundation for Innovation, University of Toronto, Autism Speaks, Sick Kids Foundation, McLaughlin Centre, University of Toronto

المصدر: Computational and Structural Biotechnology Journal ; volume 23, page 638-647 ; ISSN 2001-0370

مصطلحات موضوعية: Computer Science Applications, Genetics, Biochemistry, Structural Biology, Biophysics, Biotechnology

الإتاحة: https://doi.org/10.1016/j.csbj.2023.12.036Test
https://api.elsevier.com/content/article/PII:S200103702300510X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S200103702300510X?httpAccept=text/plainTest

المؤلفون: Afshar-Saber, Wardiya, Teaney, Nicole A., Winden, Kellen D., Jumo, Hellen, Shi, Xutong, McGinty, Gabrielle, Hubbs, Jed, Chen, Cidi, Tokatly Latzer, Itay, Gasparoli, Federico, Ebrahimi-Fakhari, Darius, Buttermore, Elizabeth D., Roullet, Jean-Baptiste, Pearl, Phillip L., Sahin, Mustafa

المساهمون: NIH

المصدر: Neurobiology of Disease ; volume 190, page 106386 ; ISSN 0969-9961

مصطلحات موضوعية: Neurology

الإتاحة: https://doi.org/10.1016/j.nbd.2023.106386Test
https://api.elsevier.com/content/article/PII:S0969996123004023?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0969996123004023?httpAccept=text/plainTest

المؤلفون: Buttermore, Elizabeth D., Anderson, Nickesha C., Chen, Pin-Fang, Makhortova, Nina R., Kim, Kristina H., Wafa, Syed M. A., Dwyer, Sean, Micozzi, John M., Winden, Kellen D., Zhang, Bo, Han, Min-Joon, Kleiman, Robin J., Brownstein, Catherine A., Sahin, Mustafa, Gonzalez-Heydrich, Joseph

المساهمون: Boston Children's Hospital

المصدر: Frontiers in Psychiatry ; volume 13 ; ISSN 1664-0640

مصطلحات موضوعية: Psychiatry and Mental health

الإتاحة: https://doi.org/10.3389/fpsyt.2022.924956Test

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: Chopra, Maya, Modi, Meera E., Dies, Kira A., Chamberlin, Nancy L., Buttermore, Elizabeth D., Brewster, Stephanie Jo, Prock, Lisa, Sahin, Mustafa

المساهمون: Novartis, National Institutes of Health, Biogen, National Institute of Neurological Disorders and Stroke, National Center for Advancing Translational Sciences, Intellectual and Developmental Disabilities Research Center, Astellas Pharma US

المصدر: Molecular Therapy - Methods & Clinical Development ; volume 27, page 32-46 ; ISSN 2329-0501

الإتاحة: https://doi.org/10.1016/j.omtm.2022.08.007Test
https://api.elsevier.com/content/article/PII:S2329050122001176?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2329050122001176?httpAccept=text/plainTest