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

URL الوصول: https://escholarship.org/uc/item/3tc3h13f

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

URL الوصول: https://escholarship.org/uc/item/4nh0t4nh

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

URL الوصول: https://escholarship.org/uc/item/25v8n06h

المؤلفون: Warfield, Simon K., Scherrer, Benoit, Filip-Dhima, Rajna, Dies, Kira, Siper, Paige, Hanson, Ellen, Phillips, Jennifer M., 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.

المصدر: In Human Genetics and Genomics Advances 12 January 2023 4(1)

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

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435414
https://doi.org/10.1093/brain/awz307

المؤلفون: Kothari, Cartik, Srivastava, Siddharth, Kousa, Youssef^{Aff3, Aff4}, Izem, Rima, Gierdalski, Marcin, Kim, Dongkyu, Good, Amy, Dies, Kira A., Geisel, Gregory, Morizono, Hiroki^{Aff8, Aff9}, Gallo, Vittorio, Pomeroy, Scott L., Garden, Gwenn A.^{Aff12, Aff13}, Guay-Woodford, Lisa, Sahin, Mustafa, Avillach, Paul^{Aff1, IDs11689022094340_cor16}

المصدر: Journal of Neurodevelopmental Disorders. 14(1)

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: In The American Journal of Human Genetics 4 August 2022 109(8):1353-1365

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

URL الوصول: https://escholarship.org/uc/item/0770787f

المؤلفون: Hardan, Antonio Y., Jo, Booil, Frazier, Thomas W., Klaas, Patricia, Busch, Robyn M., Dies, Kira A., Filip-Dhima, Rajna, Snow, Anne V., Eng, Charis, Hanna, Rabi, Zhang, Bo, Sahin, Mustafa

المصدر: In Contemporary Clinical Trials Communications March 2021 21

المؤلفون: Schaaf, Christian P.^{Aff1, Aff2, Aff3}, Betancur, Catalina, Yuen, Ryan K. C.^{Aff5, Aff6}, Parr, Jeremy R., Skuse, David H., Gallagher, Louise, Bernier, Raphael A.^{Aff10, Aff11}, Buchanan, Janet A., Buxbaum, Joseph D.^{Aff12, Aff13}, Chen, Chun-An, Dies, Kira A., Elsabbagh, Mayada, Firth, Helen V., Frazier, Thomas, Hoang, Ny, Howe, Jennifer, Marshall, Christian R., Michaud, Jacques L., Rennie, Olivia, Szatmari, Peter^{Aff19, Aff20}, Chung, Wendy K., Bolton, Patrick F., Cook, Edwin H., Scherer, Stephen W.^{Aff5, Aff6, Aff24}, Vorstman, Jacob A. S.^{Aff5, Aff19, Aff25}

المصدر: Nature Reviews Genetics. 21(6):367-376