An MRI Study of Cerebellar Volume in Tuberous Sclerosis Complex

per Weisenfeld, Neil I., Peters, Jurriaan M., Tsai, Peter T., Prabhu, Sanjay P., Dies, Kira A., Sahin, Mustafa, Warfield, Simon K.
Publicat 2013

Schizencephaly: Association With Young Maternal Age, Alcohol Use, and Lack of Prenatal Care

per Dies, Kira A., Bodell, Adria, Hisama, Fuki M., Guo, Chao-Yu, Barry, Brenda, Chang, Bernard S., Barkovich, A. James, Walsh, Christopher A.
Publicat 2012

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

per Tyburczy, Magdalena E., Dies, Kira A., Glass, Jennifer, Camposano, Susana, Chekaluk, Yvonne, Thorner, Aaron R., Lin, Ling, Krueger, Darcy, Franz, David N., Thiele, Elizabeth A., Sahin, Mustafa, Kwiatkowski, David J.
Publicat a PLoS Genet (2015)

A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations

per 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
Publicat a Contemp Clin Trials Commun (2021)

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

per Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.
Publicat a Genet Med (2019)

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

per Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.
Publicat a Genet Med (2020)

The Syndrome of Perisylvian Polymicrogyria with Congenital Arthrogryposis

per Poduri, Annapurna, Chitsazzadeh, Vida, D’Arrigo, Stefano, Fedrizzi, Ermellina, Pantaleoni, Chiara, Riva, Daria, Busse, Claudia, Küster, Helmut, Duplessis, Adre, Gaitanis, John, Sahin, Mustafa, Garganta, Cheryl, Topcu, Meral, Dies, Kira A., Barry, Brenda J., Partlow, Jennifer, Barkovich, A. James, Walsh, Christopher A., Chang, Bernard S.
Publicat 2009

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

per Shen, Yiping, Dies, Kira A., Holm, Ingrid A., Bridgemohan, Carolyn, Sobeih, Magdi M., Caronna, Elizabeth B., Miller, Karen J., Frazier, Jean A., Silverstein, Iris, Picker, Jonathan, Weissman, Laura, Raffalli, Peter, Jeste, Shafali, Demmer, Laurie A., Peters, Heather K., Brewster, Stephanie J., Kowalczyk, Sara J., Rosen-Sheidley, Beth, McGowan, Caroline, Duda, Andrew W., Lincoln, Sharyn A., Lowe, Kathryn R., Schonwald, Alison, Robbins, Michael, Hisama, Fuki, Wolff, Robert, Becker, Ronald, Nasir, Ramzi, Urion, David K., Milunsky, Jeff M., Rappaport, Leonard, Gusella, James F., Walsh, Christopher A., Wu, Bai-Lin, Miller, David T.
Publicat a Pediatrics (2010)

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

per 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, Kölker, 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, Dubey Gupta, Rachana, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R, Kremlikova Pourova, Radka, Sadek, Abdelrahim A, Elkhateeb, Nour M, Blumkin, Lubov, Brea-Fernández, Alejandro J, Dacruz-Álvarez, 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
Publicat a Brain (2020)