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: Srivastava, Siddharth, Love-Nichols, Jamie, Dies, Kira, Ledbetter, David, Martin, Christa, Chung, Wendy, Firth, Helen, Frazier, Thomas, Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen, Sahin, Mustafa, Miller, David, Hansen, Robin

المصدر: Genetics in Medicine. 22(10)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4nh0t4nhTest

المؤلفون: Srivastava, Siddharth, Love-Nichols, Jamie, Dies, Kira, Ledbetter, David, Martin, Christa, Chung, Wendy, Firth, Helen, Frazier, Thomas, Hansen, Robin, Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen, Sahin, Mustafa, Miller, David

المصدر: Genetics in Medicine. 21(11)

مصطلحات موضوعية: autism, consensus development conference, diagnostic yield, genetic testing, intellectual disability, Autism Spectrum Disorder, Developmental Disabilities, Diagnostic Tests, Routine, Exome, Genetic Testing, Humans, Intellectual Disability, Neurodevelopmental Disorders, Exome Sequencing

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/25v8n06hTest

المؤلفون: Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M., Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A., Yuskaitis, Christopher J., Salussolia, Catherine L., Ebrahimi-Fakhari, Daniel, Pearson, Toni S., Saffari, Afshin, Ziegler, Andreas, Koelker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R., Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O., Shukla, Anju, Gupta, Rachana Dubey, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R., Pourova, Radka Kremlikova, Sadek, Abdelrahim A., Elkhateeb, Nour M., Blumkin, Lubov, Brea-Fernandez, Alejandro J., Dacruz-Alvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P., Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S., Mahmoud, Adel A. H., Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C., Brock, Stefanie, Roubertie, Agathe, Darras, Basil T., Agrawal, Pankaj B., Santorelli, Filippo M., Gleeson, Joseph, Zaki, Maha S., Sheikh, Sarah, I, Bennett, James T., Sahin, Mustafa

المصدر: Brain. 143(10):2929-2944

مصطلحات موضوعية: SPG47, SPG50, SPG51, SPG52, neurodegeneration

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435414Test
https://doi.org/10.1093/brain/awz307Test

المؤلفون: Hussain, Shaun A, Schmid, Ernst, Peters, Jurriaan M, Goyal, Monisha, Bebin, E Martina, Northrup, Hope, Sahin, Mustafa, Krueger, Darcy A, Wu, Joyce Y, Network, on behalf of the Tuberous Sclerosis Complex Autism Center of Excellence, Pearson, Deborah, Williams, Marian E, Hanson, Ellen, Bing, Nicole, Kent, Bridget, O’Kelley, Sarah, Filip-Dhima, Rajna, Dies, Kira, Bruns, Stephanie, Scherrer, Benoit, Cutter, Gary, Murray, Donna S, Roberds, Steven L

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Tuberous Sclerosis, Pediatric, Prevention, Clinical Research, Rare Diseases, Neurosciences, Brain Disorders, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Anticonvulsants, Dose-Response Relationship, Drug, Female, Humans, Infant, Male, Prospective Studies, Recurrence, Risk, Spasms, Infantile, Vigabatrin, West syndrome, Epileptic spasms, Secondary prevention, Tuberous Sclerosis Complex Autism Center of Excellence Network, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0770787fTest

المؤلفون: Srivastava, Siddharth, Sahin, Mustafa, Buxbaum, Joseph D., Berry‐Kravis, Elizabeth, Soorya, Latha Valluripalli, Thurm, Audrey, Bernstein, Jonathan A., Asante‐Otoo, Afua, Bennett, William E., Betancur, Catalina, Brickhouse, Tegwyn H., Passos Bueno, Maria Rita, Chopra, Maya, Christensen, Celanie K., Cully, Jennifer L., Dies, Kira, Friedman, Kate, Gummere, Brittany, Holder, J. Lloyd, Jimenez‐Gomez, Andres, Kerins, Carolyn A., Khan, Omar, Kohlenberg, Teresa, Lacro, Ronald V., Levi, Lori A., Levy, Tess, Linnehan, Diane, Eva, Loth, Moshiree, Baharak, Neumeyer, Ann, Paul, Scott M., Phelan, Katy, Persico, Antonio, Rapaport, Robert, Rogers, Curtis, Saland, Jeffrey, Sethuram, Swathi, Shapiro, Janine, Tarr, Phillip I., White, Kerry M., Wickstrom, Jordan, Williams, Kent M., Winrow, Dana, Wishart, Brian, Kolevzon, Alexander

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Center for Advancing Translational Sciences, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 8, page 2015-2044 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63312Test

المؤلفون: Frazier, Zoë J., Brown, Eurnestine, Rockowitz, Shira, Lee, Ted, Zhang, Bo, Sveden, Abigail, Chamberlin, Nancy L., Dies, Kira A., Poduri, Annapurna, Sliz, Piotr, Chopra, Maya

المصدر: Therapeutic Advances in Rare Disease ; volume 4 ; ISSN 2633-0040 2633-0040

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1177/26330040231181406Test

المؤلفون: Patterson, Amy M., O’Boyle, Megan, VanNoy, Grace E., Dies, Kira A.

المصدر: Therapeutic Advances in Rare Disease ; volume 4 ; ISSN 2633-0040 2633-0040

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1177/26330040231164425Test

المؤلفون: Breen, Michael S., Fan, Xuanjia, Levy, Tess, Pollak, Rebecca M., Collins, Brett, Osman, Aya, Tocheva, Anna S., Sahin, Mustafa, Berry-Kravis, Elizabeth, Soorya, Latha, Thurm, Audrey, Powell, Craig M., Bernstein, Jonathan A., Kolevzon, Alexander, Buxbaum, Joseph D., Warfield, Simon K., Scherrer, Benoit, Filip-Dhima, Rajna, Dies, Kira, Siper, Paige, Hanson, Ellen, Phillips, Jennifer M.

المساهمون: Novartis, National Institute of Mental Health, Biogen, National Institute of Neurological Disorders and Stroke, National Center for Advancing Translational Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Astellas Pharma US

المصدر: Human Genetics and Genomics Advances ; volume 4, issue 1, page 100145 ; ISSN 2666-2477

مصطلحات موضوعية: Genetics (clinical), Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100145Test
https://api.elsevier.com/content/article/PII:S2666247722000628?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666247722000628?httpAccept=text/plainTest

المؤلفون: Srivastava, Siddharth, Jo, Booil, Zhang, Bo, Frazier, Thomas, Gallagher, Anne Snow, Peck, Fleming, Levin, April R, Mondal, Sangeeta, Li, Zetan, Filip-Dhima, Rajna, Geisel, Gregory, Dies, Kira A, Diplock, Amelia, Eng, Charis, Hanna, Rabi, Sahin, Mustafa, Hardan, Antonio, Martinez-Agosto, Julian A

المساهمون: Developmental Synaptopathies Consortium, National Center for Advancing Translational Sciences, Rare Diseases Clinical Research Network, Data Management and Coordinating Center, Rare Diseases Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, National Institute of Child Health and Human Development, National Institute of Mental Health

المصدر: Human Molecular Genetics ; volume 31, issue 20, page 3393-3404 ; ISSN 0964-6906 1460-2083

الإتاحة: https://doi.org/10.1093/hmg/ddac111Test
https://academic.oup.com/hmg/article-pdf/31/20/3393/46416801/ddac111.pdfTest