The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Autor: Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C., Campo, Miguel del, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M., Urraca, Nora, Bosfield, Kerri, Brown, Chester W., Lydigsen, Holly, Mroczkowski, Henry J., Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Peña, Lumaka, Aimé, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D., Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S., Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E., Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S., Perry, Denise L., Belmont, John, Taft, Ryan J.

Publikováno v: In The American Journal of Human Genetics 11 July 2024 111(7):1271-1281

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Autor: McDonagh, Ellen M, Rueda, Antonio, Polychronopoulos, Dimitris, Chan, Georgia, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, McEntagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen, Santos, Liana, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Patch, Christine, Taylor Tavares, Ana Lisa, Hyder, Zerin, Need, Anna, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Chawla, Aditi, Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Douglas, Angela, Wilson, Gill, Ellard, Sian, Temple, I Karen, Mumford, Andrew, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Chitty, Lyn S, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.H., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Ibañez, Kristina, Polke, James ^*, Hagelstrom, R Tanner ^*, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J ^**, Tucci, Arianna ^*

Publikováno v: In The Lancet Neurology March 2022 21(3):234-245

Monitoring sarcoma response to immune checkpoint inhibition and local cryotherapy with circulating tumor DNA analysis

Autor: Nam Q. Bui, Neda Nemat-Gorgani, Ajay Subramanian, Ileana A. Torres, Marta Lohman, Timothy J. Sears, Matt van de Rijn, Gregory W. Charville, Hans-Christoph Becker, David S. Wang, Gloria L. Hwang, Kristen N. Ganjoo, Everett J. Moding

Publikováno v: Clinical Cancer Research.

Purpose: Immune checkpoint inhibition has led to promising responses in soft tissue sarcomas (STSs), but the majority of patients do not respond and biomarkers of response will be crucial. Local ablative therapies may augment systemic responses to im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a3dc19dbc591fde9a9745b4cb6bafd6
https://doi.org/10.1158/1078-0432.ccr-23-0250

Ownership Structure, Incentives, and Asset Returns

Autor: Hae Won (Henny) Jung, Ajay Subramanian, Qi Zeng

Publikováno v: Management Science.

We develop a dynamic equilibrium model to derive the endogenous relations among firms’ ownership structures, managerial incentives, and asset returns. Ownership concentration is positively related to managerial incentives (PPS) but is negatively re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc0f5c10349a631b818bae195f74f9e9
https://doi.org/10.1287/mnsc.2023.4696

P507: Implementation of automated pharmacogenomics reporting for a clinically validated whole genome sequencing test

Autor: Malhotra, Alka, Hejja, Rueben, Avecilla, James, Walker, Andrew, Medrano, Phillip, Mullen, Felipe, Balusu, Anusha, Vankayala, Pratyusha, Bennett, Maren, Chawla, Aditi, Ajay, Subramanian, Strom, Samuel, Kesari, Akanchha, Perry, Denise, Taft, Ryan

Publikováno v: In Genetics in Medicine Open 2023 1(1) Supplement