Search Results - Walkiewicz, Magdalena

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

Lung Transplantation for FLNA-Associated Progressive Lung Disease by 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.

Get full text Get full text Get full text

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype by 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.

Get full text Get full text Get full text

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 by 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

Get full text Get full text Get full text

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype by 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.

Get full text Get full text Get full text

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young by 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

Get full text Get full text Get full text

The ethics of conducting molecular autopsies in cases of sudden death in the young by 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.

Get full text Get full text Get full text

Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency by 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.

Get full text Get full text Get full text

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations by 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

Get full text Get full text Get full text

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation by 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.

Get full text Get full text Get full text

Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients by 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.

Get full text Get full text Get full text

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder by 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

Get full text Get full text Get full text

Trillions and Trillions: Herpes Simplex Virus–1 Hepatitis in an Immunocompetent Adult by 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

Get full text Get full text Get full text

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms by 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

Get full text Get full text Get full text

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive by 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.

Get full text Get full text Get full text

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes by 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.

Get full text Get full text Get full text

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation by 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

Get full text Get full text Get full text

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing by 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.

Get full text Get full text Get full text