Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

بواسطة Zenner, Kaitlyn, Jensen, Dana M., Cook, Tori T., Dmyterko, Victoria, Bly, Randall A., Ganti, Sheila, Mirzaa, Ghayda M., Dobyns, William B., Perkins, Jonathan A., Bennett, James T.
الحاوية / القاعدة Genet Med (2020)

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations

بواسطة Zenner, Kaitlyn, Cheng, Chi Vicky, Jensen, Dana M., Timms, Andrew E., Shivaram, Giridhar, Bly, Randall, Ganti, Sheila, Whitlock, Kathryn B., Dobyns, William B., Perkins, Jonathan, Bennett, James T.
الحاوية / القاعدة JCI Insight (2019)

Characterization of a Severe Case of PIK3CA-related Overgrowth at Autopsy by Droplet Digital PCR and Report of PIK3CA Sequencing in 22 Patients

بواسطة Piacitelli, Andrew M, Jensen, Dana M, Brandling-Bennett, Heather, Mariner Gray, Megan, Batra, Maneesh, Gust, Juliane, Thaker, Ameet, Paschal, Catherine, Tsuchiya, Karen, Pritchard, Colin C., Perkins, Jonathan, Mirzaa, Ghayda M, Bennett, James T
الحاوية / القاعدة Am J Med Genet A (2018)

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

بواسطة Oosterhof, Nynke, Chang, Irene J., Karimiani, Ehsan Ghayoor, Kuil, Laura E., Jensen, Dana M., Daza, Ray, Young, Erica, Astle, Lee, van der Linde, Herma C., Shivaram, Giridhar M., Demmers, Jeroen, Latimer, Caitlin S., Keene, C. Dirk, Loter, Emily, Maroofian, Reza, van Ham, Tjakko J., Hevner, Robert F., Bennett, James T.
الحاوية / القاعدة Am J Hum Genet (2019)

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

بواسطة 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
الحاوية / القاعدة Brain (2020)