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: Bansal, Prakhar, Banda, Erin, Glatt-Deeley, Heather, Stoddard, Christopher, Linsley, Jeremy, Arora, Neha, Deleschaux, Cécile, Ahern, Darcy, Kondaveeti, Yuvabharath, Massey, Rachael, Nicouleau, Michael, Wang, Shijie, Sabariego-Navarro, Miguel, Dierssen, Mara, Finkbeiner, Steven, Pinter, Stefan

مصطلحات موضوعية: Immunofluorescence, Down syndrome, Dosage compensation

العلاقة: https://github.uconn.edu/sfp-lab/T21-XISTTest; https://dx.doi.org/10.1101/2022.05.11.491519Test; https://dx.doi.org/10.5061/dryad.8kprr4xvcTest; https://dx.doi.org/10.5281/zenodo.10689222Test

الإتاحة: https://doi.org/10.5281/zenodo.1068922110.1101/2022.05.11.49151910.5061/dryad.8kprr4xvc10.5281/zenodo.10689222Test

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: Bauer, Moritz, Vidal, Enrique, Zorita, Eduard, Üresin, Nil, Pinter, Stefan F., Filion, Guillaume J., Payer, Bernhard

المصدر: Nature Communications ; volume 12, 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/s41467-021-23610-1Test
https://www.nature.com/articles/s41467-021-23610-1.pdfTest
https://www.nature.com/articles/s41467-021-23610-1Test

المؤلفون: Bansal, Prakhar, Ahern, Darcy T., Kondaveeti, Yuvabharath, Qiu, Catherine W., Pinter, Stefan F.

المساهمون: University of Connecticut, National Institutes of Health

المصدر: Cell Reports ; volume 35, issue 10, page 109215 ; ISSN 2211-1247

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology

الإتاحة: https://doi.org/10.1016/j.celrep.2021.109215Test
https://api.elsevier.com/content/article/PII:S2211124721005659?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2211124721005659?httpAccept=text/plainTest

المؤلفون: Bansal, Prakhar, Kondaveeti, Yuvabharath, Pinter, Stefan F.

المساهمون: National Institute of General Medical Sciences, National Heart, Lung, and Blood Institute

المصدر: Frontiers in Cell and Developmental Biology ; volume 7 ; ISSN 2296-634X

مصطلحات موضوعية: Cell Biology, Developmental Biology

الإتاحة: https://doi.org/10.3389/fcell.2019.00328Test

المؤلفون: Froberg, John E., Pinter, Stefan F., Kriz, Andrea J., Jégu, Teddy, Lee, Jeannie T.

المصدر: Nature Communications ; volume 9, 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/s41467-018-07446-wTest
https://www.nature.com/articles/s41467-018-07446-w.pdfTest
https://www.nature.com/articles/s41467-018-07446-wTest

المؤلفون: Savol, Andrej J., Wang, Peggy I., Jeon, Yesu, Colognori, David, Yildirim, Eda, Pinter, Stefan F., Payer, Bernhard, Lee, Jeannie T., Sadreyev, Ruslan I.

المساهمون: Chadwick, Brian P., National Institutes of Health

المصدر: PLOS ONE ; volume 12, issue 8, page e0182568 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0182568Test