Identification and description of telerehabilitation assessments for individuals with neurological conditions: A scoping review

por O’Neil, Jennifer, Barnes, Keely, Morgan Donnelly, Erin, Sheehy, Lisa, Sveistrup, Heidi
Publicado 2023

Identification and Description of Balance, Mobility, and Gait Assessments Conducted via Telerehabilitation for Individuals With Neurological Conditions: Protocol for a Scoping Revi...

por O'Neil, Jennifer, Barnes, Keely, Morgan Donnelly, Erin, Sheehy, Lisa, Sveistrup, Heidi
Publicado 2021

Remotely Supervised Home-Based Intensive Exercise Intervention to Improve Balance, Functional Mobility, and Physical Activity in Survivors of Moderate or Severe Traumatic Brain Inj...

por O'Neil, Jennifer, Egan, Mary, Marshall, Shawn, Bilodeau, Martin, Pelletier, Luc, Sveistrup, Heidi
Publicado 2019

368. Incidental Findings on Brain MRI in People Living with HIV

por Hanna, Kevin F, Sayles, Harlan R, O’Neil, Jennifer, White, Matthew, Wilson, Tony, Swindells, Susan
Publicado 2019

At the edge of chaos: a prospective multiple case study in Australian general practices adapting to COVID-19

por Russell, Grant, Lane, Riki, Neil, Jennifer, Advocat, Jenny, Sturgiss, Elizabeth Ann, Staunton Smith, Timothy, Alexander, Karyn, Hattle, Simon, Crabtree, Benjamin F, Miller, William L
Publicado 2023

How do general practices respond to a pandemic? Protocol for a prospective qualitative study of six Australian practices

por Russell, Grant, Advocat, Jenny, Lane, Riki, Neil, Jennifer, Staunton-Smith, Timothy, Alexander, Karyn E, Hattle, Simon, Crabtree, Benjamin F, Miller, William L, Setunge, Sumudu Neilya, Sturgiss, Elizabeth Ann
Publicado 2021

FBW7 mutations in leukemic cells mediate NOTCH pathway activation and resistance to γ-secretase inhibitors

por O'Neil, Jennifer, Grim, Jonathan, Strack, Peter, Rao, Sudhir, Tibbitts, Deanne, Winter, Christopher, Hardwick, James, Welcker, Markus, Meijerink, Jules P., Pieters, Rob, Draetta, Giulio, Sears, Rosalie, Clurman, Bruce E., Look, A. Thomas
Publicado 2007

Omomyc Reveals New Mechanisms To Inhibit the MYC Oncogene

por Demma, Mark J., Mapelli, Claudio, Sun, Angie, Bodea, Smaranda, Ruprecht, Benjamin, Javaid, Sarah, Wiswell, Derek, Muise, Eric, Chen, Shiying, Zelina, John, Orvieto, Federica, Santoprete, Alessia, Altezza, Simona, Tucci, Federica, Escandon, Enrique, Hall, Brian, Ray, Kallol, Walji, Abbas, O’Neil, Jennifer
Publicado 2019

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

por Haag, Natja, Tan, Ene-Choo, Begemann, Matthias, Buschmann, Lars, Kraft, Florian, Holschbach, Petra, Lai, Angeline H. M., Brett, Maggie, Mochida, Ganeshwaran H., DiTroia, Stephanie, Pais, Lynn, Neil, Jennifer E., Al-Saffar, Muna, Bastaki, Laila, Walsh, Christopher A., Kurth, Ingo, Knopp, Cordula
Publicado 2021

Alu elements mediate MYB gene tandem duplication in human T-ALL

por O'Neil, Jennifer, Tchinda, Joelle, Gutierrez, Alejandro, Moreau, Lisa, Maser, Richard S., Wong, Kwok-Kin, Li, Wei, McKenna, Keith, Liu, X. Shirley, Feng, Bin, Neuberg, Donna, Silverman, Lewis, DeAngelo, Daniel J., Kutok, Jeffery L., Rothstein, Rodney, DePinho, Ronald A., Chin, Lynda, Lee, Charles, Look, A. Thomas
Publicado 2007

Early role for a Na(+),K(+)-ATPase (ATP1A3) in brain development

por Smith, Richard S., Florio, Marta, Akula, Shyam K., Neil, Jennifer E., Wang, Yidi, Hill, R. Sean, Goldman, Melissa, Mullally, Christopher D., Reed, Nora, Bello-Espinosa, Luis, Flores-Sarnat, Laura, Monteiro, Fabiola Paoli, Erasmo, Casella B., Pinto e Vairo, Filippo, Morava, Eva, Barkovich, A. James, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A., McCarroll, Steven A., Walsh, Christopher A.
Publicado 2021

Cryo-EM structures of inhibitory antibodies complexed with arginase 1 provide insight into mechanism of action

por Palte, Rachel L., Juan, Veronica, Gomez-Llorente, Yacob, Bailly, Marc Andre, Chakravarthy, Kalyan, Chen, Xun, Cipriano, Daniel, Fayad, Ghassan N., Fayadat-Dilman, Laurence, Gathiaka, Symon, Greb, Heiko, Hall, Brian, Handa, Mas, Hsieh, Mark, Kofman, Esther, Lin, Heping, Miller, J. Richard, Nguyen, Nhung, O’Neil, Jennifer, Shaheen, Hussam, Sterner, Eric, Strickland, Corey, Sun, Angie, Taremi, Shane, Scapin, Giovanna
Publicado 2021

Structure-Based Discovery of Proline-Derived Arginase Inhibitors with Improved Oral Bioavailability for Immuno-Oncology

por Lu, Min, Zhang, Hongjun, Li, Derun, Childers, Matthew, Pu, Qinglin, Palte, Rachel L., Gathiaka, Symon, Lyons, Thomas W., Palani, Anandan, Fan, Peter W., Spacciapoli, Peter, Miller, J. Richard, Cho, Hyelim, Cheng, Mangeng, Chakravarthy, Kalyan, O’Neil, Jennifer, Eangoor, Padmanabhan, Beard, Adam, Kim, Hai-Young, Saurí, Josep, Gunaydin, Hakan, Sloman, David L., Siliphaivanh, Phieng, Cumming, Jared, Fischer, Christian
Publicado 2021

Author Correction: Cryo-EM structures of inhibitory antibodies complexed with arginase 1 provide insight into mechanism of action

por Palte, Rachel L., Juan, Veronica, Gomez-Llorente, Yacob, Bailly, Marc Andre, Chakravarthy, Kalyan, Chen, Xun, Cipriano, Daniel, Fayad, Ghassan N., Fayadat-Dilman, Laurence, Gathiaka, Symon, Greb, Heiko, Hall, Brian, Handa, Mas, Hsieh, Mark, Kofman, Esther, Lin, Heping, Miller, J. Richard, Nguyen, Nhung, O’Neil, Jennifer, Shaheen, Hussam, Sterner, Eric, Strickland, Corey, Sun, Angie, Taremi, Shane, Scapin, Giovanna
Publicado 2021

ANKLE2 ‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

por Thomas, Ajay X., Link, Nichole, Robak, Laurie A., Demmler‐Harrison, Gail, Pao, Emily C., Squire, Audrey E., Michels, Savannah, Cohen, Julie S., Comi, Anne, Prontera, Paolo, Verrotti di Pianella, Alberto, Di Cara, Giuseppe, Garavelli, Livia, Caraffi, Stefano Giuseppe, Fusco, Carlo, Zuntini, Roberta, Parks, Kendall C., Sherr, Elliott H., Hashem, Mais O., Maddirevula, Sateesh, Alkuraya, Fowzan S., Contractar, Isphana A. F., Neil, Jennifer E., Walsh, Christopher A., Bellen, Hugo J., Chao, Hsiao‐Tuan, Clark, Robin D., Mirzaa, Ghayda M.
Publicado 2022

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

por Maia, Nuno, Ibarluzea, Nekane, Misra‐Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski‐Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa‐Aranzasti, Amaia, Cueto‐González, Anna Maria, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu‐Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, van Bokhoven, Hans, Jorge, Paula, van Hagen, Johanna M., de Brouwer, Arjan P. M.
Publicado 2022

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

por Shao, Diane D., Straussberg, Rachel, Ahmed, Hind, Khan, Amjad, Tian, Songhai, Hill, R. Sean, Smith, Richard S., Majmundar, Amar J., Ameziane, Najim, Neil, Jennifer E., Yang, Edward, Al Tenaiji, Amal, Jamuar, Saumya S., Schlaeger, Thorsten M., Al-Saffar, Muna, Hovel, Iris, Al-Shamsi, Aisha, Basel-Salmon, Lina, Amir, Achiya Z., Rento, Lariza M., Lim, Jiin Ying, Ganesan, Indra, Shril, Shirlee, Evrony, Gilad, Barkovich, A. James, Bauer, Peter, Hildebrandt, Friedhelm, Dong, Min, Borck, Guntram, Beetz, Christian, Al-Gazali, Lihadh, Eyaid, Wafaa, Walsh, Christopher A.
Publicado 2021

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

por Akula, Shyam K., Chen, Allen Y., Neil, Jennifer E., Shao, Diane D., Mo, Alisa, Hylton, Norma K., DiTroia, Stephanie, Ganesh, Vijay S., Smith, Richard S., O’Kane, Katherine, Yeh, Rebecca C., Marciano, Jack H., Kirkham, Samantha, Kenny, Connor J., Song, Janet H. T., Al Saffar, Muna, Millan, Francisca, Harris, David J., Murphy, Andrea V., Klemp, Kara C., Braddock, Stephen R., Brand, Harrison, Wong, Isaac, Talkowski, Michael E., O’Donnell-Luria, Anne, Lai, Abbe, Hill, Robert Sean, Mochida, Ganeshwaran H., Doan, Ryan N., Barkovich, A. James, Yang, Edward, Amrom, Dina, Andermann, Eva, Poduri, Annapurna, Walsh, Christopher A.
Publicado 2023

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

por Akula, Shyam K., Marciano, Jack H., Lim, Youngshin, Exposito-Alonso, David, Hylton, Norma K., Hwang, Grace H., Neil, Jennifer E., Dominado, Nicole, Bunton-Stasyshyn, Rosie K., Song, Janet H. T., Talukdar, Maya, Schmid, Aloisia, Teboul, Lydia, Mo, Alisa, Shin, Taehwan, Finander, Benjamin, Beck, Samantha G., Yeh, Rebecca C., Otani, Aoi, Qian, Xuyu, DeGennaro, Ellen M., Alkuraya, Fowzan S., Maddirevula, Sateesh, Cascino, Gregory D., Giannini, Caterina, Burrage, Lindsay C., Rosenfield, Jill A., Ketkar, Shamika, Clark, Gary D., Bacino, Carlos, Lewis, Richard A., Segal, Rosalind A., Bazan, J. Fernando, Smith, Kelly A., Golden, Jeffrey A., Cho, Ginam, Walsh, Christopher A.
Publicado 2023

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

por Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R., Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O’Heir, Emily, Ganesh, Vijay S., Wojcik, Monica H., Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L., Neil, Jennifer E., Shao, Diane D., Walsh, Christopher A., Argili, Emanuela, Le, Carolyn, Sherr, Elliott H., Gleeson, Joseph, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G., Madden, Jill A., Genetti, Casie A., Beggs, Alan H., Agrawal, Pankaj B., Bujakowska, Kinga M., Place, Emily, Pierce, Eric A., Donkervoort, Sandra, Bönnemann, Carsten G., Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong, White, Susan M., Töpf, Ana, Straub, Volker, Fleming, Mark D., Pollak, Martin R., Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A., Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G., MacArthur, Daniel G., Rehm, Heidi L., Talkowski, Michael E., Brand, Harrison, O’Donnell-Luria, Anne
Publicado 2023