6 results on '"Gudmundsson, Sanna"'
Search Results
2. P559: Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF*
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Singer-Berk, Moriel, primary, Gudmundsson, Sanna, additional, Baxter, Samantha, additional, Seaby, Eleanor, additional, England, Eleina, additional, Wood, Jordan, additional, Son, Rachel, additional, Watts, Nicholas, additional, Karczewski, Konrad, additional, Harrison, Steven, additional, MacArthur, Daniel, additional, Rehm, Heidi, additional, and O'Donnell-Luria, Anne, additional
- Published
- 2023
- Full Text
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3. Centers for Mendelian Genomics: A decade of facilitating gene discovery
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Baxter, Samantha M., primary, Posey, Jennifer E., additional, Lake, Nicole J., additional, Sobreira, Nara, additional, Chong, Jessica X., additional, Buyske, Steven, additional, Blue, Elizabeth E., additional, Chadwick, Lisa H., additional, Coban-Akdemir, Zeynep H., additional, Doheny, Kimberly F., additional, Davis, Colleen P., additional, Lek, Monkol, additional, Wellington, Christopher, additional, Jhangiani, Shalini N., additional, Gerstein, Mark, additional, Gibbs, Richard A., additional, Lifton, Richard P., additional, MacArthur, Daniel G., additional, Matise, Tara C., additional, Lupski, James R., additional, Valle, David, additional, Bamshad, Michael J., additional, Hamosh, Ada, additional, Mane, Shrikant, additional, Nickerson, Deborah A., additional, Rehm, Heidi L., additional, O’Donnell-Luria, Anne, additional, Adams, Marcia, additional, Aguet, François, additional, Akay, Gulsen, additional, Anderson, Peter, additional, Antonescu, Corina, additional, Arachchi, Harindra M., additional, Atik, Mehmed M., additional, Austin-Tse, Christina A., additional, Babb, Larry, additional, Bacus, Tamara J., additional, Bahrambeigi, Vahid, additional, Balasubramanian, Suganthi, additional, Bayram, Yavuz, additional, Beaudet, Arthur L., additional, Beck, Christine R., additional, Belmont, John W., additional, Below, Jennifer E., additional, Bilguvar, Kaya, additional, Boehm, Corinne D., additional, Boerwinkle, Eric, additional, Boone, Philip M., additional, Bowne, Sara J., additional, Brand, Harrison, additional, Buckingham, Kati J., additional, Byrne, Alicia B., additional, Calame, Daniel, additional, Campbell, Ian M., additional, Cao, Xiaolong, additional, Carvalho, Claudia, additional, Chander, Varuna, additional, Chang, Jaime, additional, Chao, Katherine R., additional, Chinn, Ivan K., additional, Clarke, Declan, additional, Collins, Ryan L., additional, Cummings, Beryl, additional, Dardas, Zain, additional, Dawood, Moez, additional, Delano, Kayla, additional, DiTroia, Stephanie P., additional, Doddapaneni, Harshavardhan, additional, Du, Haowei, additional, Du, Renqian, additional, Duan, Ruizhi, additional, Eldomery, Mohammad, additional, Eng, Christine M., additional, England, Eleina, additional, Evangelista, Emily, additional, Everett, Selin, additional, Fatih, Jawid, additional, Felsenfeld, Adam, additional, Francioli, Laurent C., additional, Frazar, Christian D., additional, Fu, Jack, additional, Gamarra, Emmanuel, additional, Gambin, Tomasz, additional, Gan, Weiniu, additional, Gandhi, Mira, additional, Ganesh, Vijay S., additional, Garimella, Kiran V., additional, Gauthier, Laura D., additional, Giroux, Danielle, additional, Gonzaga-Jauregui, Claudia, additional, Goodrich, Julia K., additional, Gordon, William W., additional, Griffith, Sean, additional, Grochowski, Christopher M., additional, Gu, Shen, additional, Gudmundsson, Sanna, additional, Hall, Stacey J., additional, Hansen, Adam, additional, Harel, Tamar, additional, Harmanci, Arif O., additional, Herman, Isabella, additional, Hetrick, Kurt, additional, Hijazi, Hadia, additional, Horike-Pyne, Martha, additional, Hsu, Elvin, additional, Hu, Jianhong, additional, Huang, Yongqing, additional, Hurless, Jameson R., additional, Jahl, Steve, additional, Jarvik, Gail P., additional, Jiang, Yunyun, additional, Johanson, Eric, additional, Jolly, Angad, additional, Karaca, Ender, additional, Khayat, Michael, additional, Knight, James, additional, Kolar, J. Thomas, additional, Kumar, Sushant, additional, Lalani, Seema, additional, Laricchia, Kristen M., additional, Larkin, Kathryn E., additional, Leal, Suzanne M., additional, Lemire, Gabrielle, additional, Lewis, Richard A., additional, Li, He, additional, Ling, Hua, additional, Lipson, Rachel B., additional, Liu, Pengfei, additional, Lovgren, Alysia Kern, additional, López-Giráldez, Francesc, additional, MacMillan, Melissa P., additional, Mangilog, Brian E., additional, Mano, Stacy, additional, Marafi, Dana, additional, Marosy, Beth, additional, Marshall, Jamie L., additional, Martin, Renan, additional, Marvin, Colby T., additional, Mawhinney, Michelle, additional, McGee, Sean, additional, McGoldrick, Daniel J., additional, Mehaffey, Michelle, additional, Mekonnen, Betselote, additional, Meng, Xiaolu, additional, Mitani, Tadahiro, additional, Miyake, Christina Y., additional, Mohr, David, additional, Morris, Shaine, additional, Mullen, Thomas E., additional, Murdock, David R., additional, Murugan, Mullai, additional, Muzny, Donna M., additional, Myers, Ben, additional, Neira, Juanita, additional, Nguyen, Kevin K., additional, Nielsen, Patrick M., additional, Nudelman, Natalie, additional, O’Heir, Emily, additional, O’Leary, Melanie C., additional, Ongaco, Chrissie, additional, Orange, Jordan, additional, Osei-Owusu, Ikeoluwa A., additional, Paine, Ingrid S., additional, Pais, Lynn S., additional, Paschall, Justin, additional, Patterson, Karynne, additional, Pehlivan, Davut, additional, Pelle, Benjamin, additional, Penney, Samantha, additional, Perez de Acha Chavez, Jorge, additional, Pierce-Hoffman, Emma, additional, Poli, Cecilia M., additional, Punetha, Jaya, additional, Radhakrishnan, Aparna, additional, Richardson, Matthew A., additional, Rodrigues, Eliete, additional, Roote, Gwendolin T., additional, Rosenfeld, Jill A., additional, Ryke, Erica L., additional, Sabo, Aniko, additional, Sanchez, Alice, additional, Schrauwen, Isabelle, additional, Scott, Daryl A., additional, Sedlazeck, Fritz, additional, Serrano, Jillian, additional, Shaw, Chad A., additional, Shelford, Tameka, additional, Shively, Kathryn M., additional, Singer-Berk, Moriel, additional, Smith, Joshua D., additional, Snow, Hana, additional, Snyder, Grace, additional, Solomonson, Matthew, additional, Son, Rachel G., additional, Song, Xiaofei, additional, Stankiewicz, Pawel, additional, Stephan, Taylorlyn, additional, Sutton, V. Reid, additional, Sveden, Abigail, additional, Sánchez, Diana Cornejo, additional, Tackett, Monica, additional, Talkowski, Michael, additional, Threlkeld, Machiko S., additional, Tiao, Grace, additional, Udler, Miriam S., additional, Vail, Laura, additional, Valivullah, Zaheer, additional, Valkanas, Elise, additional, VanNoy, Grace E., additional, Wang, Qingbo S., additional, Wang, Gao, additional, Wang, Lu, additional, Wangler, Michael F., additional, Watts, Nicholas A., additional, Weisburd, Ben, additional, Weiss, Jeffrey M., additional, Wheeler, Marsha M., additional, White, Janson J., additional, Williamson, Clara E., additional, Wilson, Michael W., additional, Wiszniewski, Wojciech, additional, Withers, Marjorie A., additional, Witmer, Dane, additional, Witzgall, Lauren, additional, Wohler, Elizabeth, additional, Wojcik, Monica H., additional, Wong, Isaac, additional, Wood, Jordan C., additional, Wu, Nan, additional, Xing, Jinchuan, additional, Yang, Yaping, additional, Yi, Qian, additional, Yuan, Bo, additional, Zeiger, Jordan E., additional, Zhang, Chaofan, additional, Zhang, Peng, additional, Zhang, Yan, additional, Zhang, Xiaohong, additional, Zhang, Yeting, additional, Zhang, Shifa, additional, Zoghbi, Huda, additional, and van den Veyver, Igna, additional
- Published
- 2022
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4. A form of muscular dystrophy associated with pathogenic variants in JAG2
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Coppens, Sandra, primary, Barnard, Alison M., additional, Puusepp, Sanna, additional, Pajusalu, Sander, additional, Õunap, Katrin, additional, Vargas-Franco, Dorianmarie, additional, Bruels, Christine C., additional, Donkervoort, Sandra, additional, Pais, Lynn, additional, Chao, Katherine R., additional, Goodrich, Julia K., additional, England, Eleina M., additional, Weisburd, Ben, additional, Ganesh, Vijay S., additional, Gudmundsson, Sanna, additional, O’Donnell-Luria, Anne, additional, Nigul, Mait, additional, Ilves, Pilvi, additional, Mohassel, Payam, additional, Siddique, Teepu, additional, Milone, Margherita, additional, Nicolau, Stefan, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Hanna, Michael G., additional, Quinlivan, Ros, additional, Toosi, Mehran Beiraghi, additional, Karimiani, Ehsan Ghayoor, additional, Costagliola, Sabine, additional, Deconinck, Nicolas, additional, Kadhim, Hazim, additional, Macke, Erica, additional, Lanpher, Brendan C., additional, Klee, Eric W., additional, Łusakowska, Anna, additional, Kostera-Pruszczyk, Anna, additional, Hahn, Andreas, additional, Schrank, Bertold, additional, Nishino, Ichizo, additional, Ogasawara, Masashi, additional, El Sherif, Rasha, additional, Stojkovic, Tanya, additional, Nelson, Isabelle, additional, Bonne, Gisèle, additional, Cohen, Enzo, additional, Boland-Augé, Anne, additional, Deleuze, Jean-François, additional, Meng, Yao, additional, Töpf, Ana, additional, Vilain, Catheline, additional, Pacak, Christina A., additional, Rivera-Zengotita, Marie L., additional, Bönnemann, Carsten G., additional, Straub, Volker, additional, Handford, Penny A., additional, Draper, Isabelle, additional, Walter, Glenn A., additional, and Kang, Peter B., additional
- Published
- 2021
- Full Text
- View/download PDF
5. A form of muscular dystrophy associated with pathogenic variants in JAG2
- Author
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Coppens, Sandra, primary, Barnard, Alison M., additional, Puusepp, Sanna, additional, Pajusalu, Sander, additional, Õunap, Katrin, additional, Vargas-Franco, Dorianmarie, additional, Bruels, Christine C., additional, Donkervoort, Sandra, additional, Pais, Lynn, additional, Chao, Katherine R., additional, Goodrich, Julia K., additional, England, Eleina M., additional, Weisburd, Ben, additional, Ganesh, Vijay S., additional, Gudmundsson, Sanna, additional, O’Donnell-Luria, Anne, additional, Nigul, Mait, additional, Ilves, Pilvi, additional, Mohassel, Payam, additional, Siddique, Teepu, additional, Milone, Margherita, additional, Nicolau, Stefan, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Hanna, Michael G., additional, Quinlivan, Ros, additional, Beiraghi Toosi, Mehran, additional, Ghayoor Karimiani, Ehsan, additional, Costagliola, Sabine, additional, Deconinck, Nicolas, additional, Kadhim, Hazim, additional, Macke, Erica, additional, Lanpher, Brendan C., additional, Klee, Eric W., additional, Łusakowska, Anna, additional, Kostera-Pruszczyk, Anna, additional, Hahn, Andreas, additional, Schrank, Bertold, additional, Nishino, Ichizo, additional, Ogasawara, Masashi, additional, El Sherif, Rasha, additional, Stojkovic, Tanya, additional, Nelson, Isabelle, additional, Bonne, Gisèle, additional, Cohen, Enzo, additional, Boland-Augé, Anne, additional, Deleuze, Jean-François, additional, Meng, Yao, additional, Töpf, Ana, additional, Vilain, Catheline, additional, Pacak, Christina A., additional, Rivera-Zengotita, Marie L., additional, Bönnemann, Carsten G., additional, Straub, Volker, additional, Handford, Penny A., additional, Draper, Isabelle, additional, Walter, Glenn A., additional, and Kang, Peter B., additional
- Published
- 2021
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6. A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature
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Gudmundsson, Sanna, primary, Annerén, Göran, additional, Marcos-Alcalde, Íñigo, additional, Wilbe, Maria, additional, Melin, Malin, additional, Gómez-Puertas, Paulino, additional, and Bondeson, Marie-Louise, additional
- Published
- 2019
- Full Text
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