Hakutulokset - Walkiewicz, Magdalena

Increased Insulin/Insulin Growth Factor Signaling Advances the Onset of Metamorphosis in Drosophila Tekijä Walkiewicz, Magdalena A., Stern, Michael

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Gravin Dynamics Regulates the Subcellular Distribution of PKA Tekijä Yan, Xiaohong, Walkiewicz, Magdalena, Carlson, Jennifer, Leiphon, Laura, Grove, Bryon

Hae kokoteksti Hae kokoteksti Hae kokoteksti

The contribution of rare copy number variants in FAS toward pathogenesis of autoimmune lymphoproliferative syndrome Tekijä Jevtich, Kathleen, Price, Susan, Similuk, Morgan, Kulm, Elaine, Yan, Jia, Setzer, Michael, Jamal, Leila, Franco, Luis M., Ghosh, Rajarshi, Walkiewicz, Magdalena, Rao, V. Koneti

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Lung Transplantation for FLNA-Associated Progressive Lung Disease Tekijä Burrage, Lindsay C., Guillerman, R. Paul, Das, Shailendra, Singh, Shipra, Schady, Deborah A., Morris, Shaine A., Walkiewicz, Magdalena, Schecter, Marc G., Heinle, Jeffrey S., Lotze, Timothy E., Lalani, Seema R., Mallory, George B.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype Tekijä Chen, Li, Jensik, Philip J., Alaimo, Joseph T., Walkiewicz, Magdalena, Berger, Seth, Roeder, Elizabeth, Faqeih, Eissa A., Bernstein, Jonathan A., Smith, Ann C. M., Mullegama, Sureni V., Saffen, David W., Elsea, Sarah H.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Mitochondrial Myopathy, Lactic Acidosis, and Sideroblastic Anemia (MLASA) Plus Associated with a novel De Novo Mutation (m.8969G>A) in the Mitochondrial Encoded ATP6 gene Tekijä Burrage, Lindsay C., Tang, Sha, Wang, Jing, Donti, Taraka R., Walkiewicz, Magdalena, Luchak, J. Michael, Chen, Li-Chieh, Schmitt, Eric S., Niu, Zhiyv, Erana, Rodrigo, Hunter, Jill V., Graham, Brett H., Wong, Lee-Jun, Scaglia, Fernando

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype Tekijä Zastrow, Diane B., Zornio, Patricia A., Dries, Annika, Kohler, Jennefer, Fernandez, Liliana, Waggott, Daryl, Walkiewicz, Magdalena, Eng, Christine M., Manning, Melanie A., Farrelly, Ellyn, Fisher, Paul G., Ashley, Euan A., Bernstein, Jonathan A., Wheeler, Matthew T.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young Tekijä Methner, D. Nicole R., Scherer, Steven E., Welch, Katherine, Walkiewicz, Magdalena, Eng, Christine M., Belmont, John W., Powell, Mark C., Korchina, Viktoriya, Doddapaneni, Harsha Vardhan, Muzny, Donna M., Gibbs, Richard A., Wolf, Dwayne A., Sanchez, Luis A., Kahn, Roger

Hae kokoteksti Hae kokoteksti Hae kokoteksti

The ethics of conducting molecular autopsies in cases of sudden death in the young Tekijä McGuire, Amy L., Moore, Quianta, Majumder, Mary, Walkiewicz, Magdalena, Eng, Christine M., Belmont, John W., Nassef, Salma, Darilek, Sandra, Rutherford, Katie, Pereira, Stacey, Scherer, Steven E., Sutton, V. Reid, Wolf, Dwayne, Gibbs, Richard A., Kahn, Roger, Sanchez, Luis A.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency Tekijä Kinoshita, Hannah, Durkee-Shock, Jessica, Jensen-Wachspress, Mariah, Kankate, Vaishnavi V., Lang, Haili, Lazarski, Christopher A., Keswani, Anjeni, Webber, Kathleen C., Montgomery-Recht, Kimberly, Walkiewicz, Magdalena, Notarangelo, Luigi D., Burbelo, Peter D., Fuss, Ivan, Cohen, Jeffrey I., Bollard, Catherine M., Keller, Michael D.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations Tekijä Wang, Xia, Charng, Wu-Lin, Chen, Chun-An, Rosenfeld, Jill A., Shamsi, Aisha Al, Al-Gazali, Lihadh, McGuire, Marianne, Mew, Nicholas Ah, Arnold, Georgianne L., Qu, Chunjing, Ding, Yan, Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Walkiewicz, Magdalena, Xia, Fan, Plon, Sharon E., Lupski, James R., Schaaf, Christian P., Yang, Yaping

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation Tekijä Posey, Jennifer E., Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A., James, Regis A., Coban Akdemir, Zeynep H., Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L., Muzny, Donna M., Gibbs, Richard A., Boerwinkle, Eric, Eng, Christine M., Sutton, V. Reid, Shaw, Chad A., Plon, Sharon E., Yang, Yaping, Lupski, James R.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients Tekijä Posey, Jennifer E., Rosenfeld, Jill A., James, Regis A., Bainbridge, Matthew, Niu, Zhiyv, Wang, Xia, Dhar, Shweta, Wiszniewski, Wojciech, Akdemir, Zeynep H.C., Gambin, Tomasz, Xia, Fan, Person, Richard E., Walkiewicz, Magdalena, Shaw, Chad A., Sutton, V. Reid, Beaudet, Arthur L., Muzny, Donna, Eng, Christine M., Yang, Yaping, Gibbs, Richard A., Lupski, James R., Boerwinkle, Eric, Plon, Sharon E.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder Tekijä Normand, Elizabeth A., Braxton, Alicia, Nassef, Salma, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E., Stover, Samantha, Dharmadhikari, Avinash V., Muzny, Donna M., Gibbs, Richard A., Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B., Eng, Christine M., Yang, Yaping

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Trillions and Trillions: Herpes Simplex Virus–1 Hepatitis in an Immunocompetent Adult Tekijä Ikuta, Kevin, Roychoudhury, Pavitra, Xie, Hong, Mcclurkan, Christopher L, Walkiewicz, Magdalena, Makhsous, Negar, Huang, Meei-Li, Beru, Yodit, Alam, Mariam, Shepherd, Amanda, Lamotte, Eric D, Patel, Kevin, Morris, Amy, Ҫoruh, Başak, Yu, Lei, Bhattacharya, Renuka, Cheng, Rex, Walter, Roland B, Limaye, Ajit P, Lockwood, Christina M, Holland, Steven M, Rakita, Robert M, Koelle, David M, Greninger, Alexander L

Hae kokoteksti Hae kokoteksti Hae kokoteksti

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms Tekijä Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian

Hae kokoteksti Hae kokoteksti Hae kokoteksti

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive Tekijä Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes Tekijä Sun, Chong, Song, Jie, Jiang, Yanjun, Zhao, Chongbo, Lu, Jiahong, Li, Yuxin, Wang, Yin, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Li, Meixia, Donaldson, Kevin, Oprescu, Stephanie N., Slavin, Thomas P., Lee, Sansan, Magoulas, Pilar L., Lewis, Andrea M., Emrick, Lisa, Lalani, Seema R., Niu, Zhiyv, Landsverk, Megan L., Walkiewicz, Magdalena, Person, Richard E., Mei, Hui, Rosenfeld, Jill A., Yang, Yaping, Antonellis, Anthony, Hou, Ya-Ming, Lin, Jie, Zhang, Victor W.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation Tekijä Beck, David B., Basar, Mohammed A., Asmar, Anthony J., Thompson, Joyce J., Oda, Hirotsugu, Uehara, Daniela T., Saida, Ken, Pajusalu, Sander, Talvik, Inga, D’Souza, Precilla, Bodurtha, Joann, Mu, Weiyi, Barañano, Kristin W., Miyake, Noriko, Wang, Raymond, Kempers, Marlies, Tamada, Tomoko, Nishimura, Yutaka, Okada, Satoshi, Kosho, Tomoki, Dale, Ryan, Mitra, Apratim, Macnamara, Ellen, Matsumoto, Naomichi, Inazawa, Johji, Walkiewicz, Magdalena, Õunap, Katrin, Tifft, Cynthia J., Aksentijevich, Ivona, Kastner, Daniel L., Rocha, Pedro P., Werner, Achim

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing Tekijä Yang, Yaping, Muzny, Donna M., Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J., Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L., Lupski, James R., Plon, Sharon E., Gibbs, Richard A., Eng, Christine M.

Hae kokoteksti Hae kokoteksti Hae kokoteksti