Increased Insulin/Insulin Growth Factor Signaling Advances the Onset of Metamorphosis in Drosophila

por Walkiewicz, Magdalena A., Stern, Michael
Publicado 2009

The contribution of rare copy number variants in FAS toward pathogenesis of autoimmune lymphoproliferative syndrome

por Jevtich, Kathleen, Price, Susan, Similuk, Morgan, Kulm, Elaine, Yan, Jia, Setzer, Michael, Jamal, Leila, Franco, Luis M., Ghosh, Rajarshi, Walkiewicz, Magdalena, Rao, V. Koneti
Publicado 2022

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

por 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.
Publicado 2017

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

por 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
Publicado 2016

Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype

por Ferré, Elise M. N., Yu, Yunting, Oikonomou, Vasileios, Hilfanova, Anna, Lee, Chyi-Chia R., Rosen, Lindsey B., Burbelo, Peter D., Vazquez, Sara E., Anderson, Mark S., Barocha, Amisha, Heller, Theo, Soldatos, Ariane, Holland, Steven M., Walkiewicz, Magdalena A., Lionakis, Michail S.
Publicado 2023

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

por 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.
Publicado 2016

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

por 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.
Publicado 2021

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

por 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
Publicado 2017

Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients

por 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.
Publicado 2015

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

por 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
Publicado 2018

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

por 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
Publicado 2019

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

por 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.
Publicado 2019

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

por 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
Publicado 2021

POGZ truncating alleles cause syndromic intellectual disability

por White, Janson, Beck, Christine R., Harel, Tamar, Posey, Jennifer E., Jhangiani, Shalini N., Tang, Sha, Farwell, Kelly D., Powis, Zöe, Mendelsohn, Nancy J., Baker, Janice A., Pollack, Lynda, Mason, Kati J., Wierenga, Klaas J., Arrington, Daniel K., Hall, Melissa, Psychogios, Apostolos, Fairbrother, Laura, Walkiewicz, Magdalena, Person, Richard E., Niu, Zhiyv, Zhang, Jing, Rosenfeld, Jill A., Muzny, Donna M., Eng, Christine, Beaudet, Arthur L., Lupski, James R., Boerwinkle, Eric, Gibbs, Richard A., Yang, Yaping, Xia, Fan, Sutton, V. Reid
Publicado 2016

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

por Bostwick, Bret L., McLean, Scott, Posey, Jennifer E., Streff, Haley E., Gripp, Karen W., Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A., Farrelly, Ellyn, Hudgins, Louanne, Yang, Yaping, Xia, Fan, Wang, Xia, Liu, Pengfei, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K., Andrews, Marisa V., Hummel, Marybeth, Madan-Khetarpal, Suneeta, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John L., Rosenfeld, Jill A., Emrick, Lisa, Nugent, Kimberly M., Lupski, James R., Belmont, John W., Lee, Brendan, Lalani, Seema R.
Publicado 2017

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

por Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Publicado 2018

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

por Beers, Breanna J., Similuk, Morgan N., Ghosh, Rajarshi, Seifert, Bryce A., Jamal, Leila, Kamen, Michael, Setzer, Michael R., Jodarski, Colleen, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Cao, Wenjia, Bi, Weimin, Veltri, Daniel, Karlins, Eric, Zhang, Lingwen, Li, Zhiwen, Oler, Andrew J., Jevtich, Kathleen, Yu, Yunting, Hullfish, Haley, Bielekova, Bibiana, Frischmeyer-Guerrerio, Pamela, Dang Do, An, Huryn, Laryssa A., Olivier, Kenneth N., Su, Helen C., Lyons, Jonathan J., Zerbe, Christa S., Rao, V. Koneti, Keller, Michael D., Freeman, Alexandra F., Holland, Steven M., Franco, Luis M., Walkiewicz, Magdalena A., Yan, Jia
Publicado 2023

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

por Johnston, Jennifer J., van der Smagt, Jasper J., Rosenfeld, Jill A., Pagnamenta, Alistair T., Alswaid, Abdulrahman, Baker, Eva H., Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B., van Gassen, Koen L., Gulsuner, Suleyman, Harr, Margaret H., Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A., McDonald-McGinn, Donna M., Ngoc, Can Thi Bich, Peleg, Amir, Roeder, Elizabeth R., Rogers, R. Curtis, Sagi-Dain, Lena, Sapp, Julie C., Schäffer, Alejandro A., Schanze, Denny, Stewart, Helen, Taylor, Jenny C., Verbeek, Nienke E., Walkiewicz, Magdalena A., Zackai, Elaine H., Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G.
Publicado 2018

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

por Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.
Publicado 2016

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

por Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten, Joke, Leduc, Magalie S., He, Weimin, Vetrini, Francesco, Walkiewicz, Magdalena A., Bi, Weimin, Xiao, Rui, Liu, Pengfei, Shao, Yunru, Gezdirici, Alper, Gulec, Elif Y., Jiang, Yunyun, Darilek, Sandra A., Hansen, Adam W., Khayat, Michael M., Pehlivan, Davut, Piard, Juliette, Muzny, Donna M., Hanchard, Neil, Belmont, John W., Van Maldergem, Lionel, Gibbs, Richard A., Eldomery, Mohammad K., Akdemir, Zeynep C., Adesina, Adekunle M., Chen, Shan, Lee, Yi‐Chien, Lee, Brendan, Lupski, James R., Eng, Christine M., Xia, Fan, Yang, Yaping, Graham, Brett H., Moretti, Paolo
Publicado 2018