Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

por Van Bergen, Nicole J., Gunanayagam, Karen, Bournazos, Adam M., Walvekar, Adhish S., Warmoes, Marc O., Semcesen, Liana N., Lunke, Sebastian, Bommireddipalli, Shobhana, Sikora, Tim, Patraskaki, Myrto, Jones, Dean L., Garza, Denisse, Sebire, Dale, Gooley, Samuel, McLean, Catriona A., Naidoo, Parm, Rajasekaran, Mugil, Stroud, David A., Linster, Carole L., Wallis, Mathew, Cooper, Sandra T., Christodoulou, John
Publicado 2023

Approaches for enhancing the informativeness and quality of clinical trials: Innovations and principles for implementing multicenter trials from the Trial Innovation Network

por Lane, Karen, Palm, Marisha E., Marion, Eve, Kay, Marie T., Thompson, Dixie, Stroud, Mary, Boyle, Helen, Hillery, Shannon, Nanni, Angeline, Hildreth, Meghan, Nelson, Sarah, Burr, Jeri S., Edwards, Terri, Poole, Lori, Waddy, Salina P., Dunsmore, Sarah E., Harris, Paul, Wilkins, Consuelo, Bernard, Gordon R., Dean, J. Michael, Dwyer, Jamie, Benjamin, Daniel K., Selker, Harry P., Hanley, Daniel F., Ford, Daniel E.
Publicado 2023

De novo macrocyclic peptides for inhibiting, stabilizing, and probing the function of the retromer endosomal trafficking complex

por Chen, Kai-En, Guo, Qian, Hill, Timothy A., Cui, Yi, Kendall, Amy K., Yang, Zhe, Hall, Ryan J., Healy, Michael D., Sacharz, Joanna, Norwood, Suzanne J., Fonseka, Sachini, Xie, Boyang, Reid, Robert C., Leneva, Natalya, Parton, Robert G., Ghai, Rajesh, Stroud, David A., Fairlie, David P., Suga, Hiroaki, Jackson, Lauren P., Teasdale, Rohan D., Passioura, Toby, Collins, Brett M.
Publicado 2021

Increased interleukin-6/C-reactive protein levels are associated with the upregulation of the adenosine pathway and serve as potential markers of therapeutic resistance to immune c...

por Naqash, Abdul Rafeh, McCallen, Justin D, Mi, Emma, Iivanainen, Sanna, Marie, Mona A, Gramenitskaya, Daria, Clark, James, Koivunen, Jussi Pekka, Macherla, Shravanti, Jonnalagadda, Sweta, Polsani, Shanker, Jiwani, Rahim Ali, Hafiz, Maida, Muzaffar, Mahvish, Brunetti, Leonardo, Stroud, Chipman R G, Walker, Paul R, Wang, Kun, Chung, Youngmin, Ruppin, Eytan, Lee, Se-Hoon, Yang, Li V, Pinato, David J, Lee, Joo Sang, Cortellini, Alessio
Publicado 2023

Increasing diversity in genomics requires investment in equitable partnerships and capacity building

por Martin, Alicia R., Stroud, Rocky E., Abebe, Tamrat, Akena, Dickens, Alemayehu, Melkam, Atwoli, Lukoye, Chapman, Sinéad B., Flowers, Katelyn, Gelaye, Bizu, Gichuru, Stella, Kariuki, Symon M., Kinyanjui, Sam, Korte, Kristina J., Koen, Nastassja, Koenen, Karestan C., Newton, Charles R. J. C., Olivares, Ana Maria, Pollock, Sam, Post, Kristianna, Singh, Ilina, Stein, Dan J., Teferra, Solomon, Zingela, Zukiswa, Chibnik, Lori B.
Publicado 2022

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

por Van Bergen, Nicole J., Hock, Daniella H., Spencer, Lucy, Massey, Sean, Stait, Tegan, Stark, Zornitza, Lunke, Sebastian, Roesley, Ain, Peters, Heidi, Lee, Joy Yaplito, Le Fevre, Anna, Heath, Oliver, Mignone, Cristina, Yang, Joseph Yuan-Mou, Ryan, Monique M., D’Arcy, Colleen, Nash, Margot, Smith, Sile, Caruana, Nikeisha J., Thorburn, David R., Stroud, David A., White, Susan M., Christodoulou, John, Brown, Natasha J.
Publicado 2022

Performance evaluation of a non-invasive one-step multiplex RT-qPCR assay for detection of SARS-CoV-2 direct from saliva

por Jenkins, Harry H., Lopez, Ana A. Tellechea, Tarantini, Francesco Saverio, Tomlin, Hannah, Scales, Danielle, Lee, I-Ning, Wu, Siyu, Hyde, Ralph, Lis-Slimak, Katarzyna, Byaruhanga, Timothy, Thompson, Jamie L., Pijuan-Galito, Sara, Doolan, Lara, Kaneko, Kazuyo, Gwynne, Penny, Reffin, Caroline, Park, Emily, Dey, Jayasree, Hill, Jack, Arendt-Tranholm, Asta, Stroud, Amy, Petrie, Moira, Denning, Chris, Benest, Andrew V., Seedhouse, Claire
Publicado 2022

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

por Bakhshalizadeh, Shabnam, Hock, Daniella H., Siddall, Nicole A., Kline, Brianna L., Sreenivasan, Rajini, Bell, Katrina M., Casagranda, Franca, Kamalanathan, Sadishkumar, Sahoo, Jayaprakash, Narayanan, Niya, Naik, Dukhabandhu, Suryadevara, Varun, Compton, Alison G., Amarasekera, Sumudu S. C., Kapoor, Ridam, Jaillard, Sylvie, Simpson, Andrea, Robevska, Gorjana, van den Bergen, Jocelyn, Pachernegg, Svenja, Ayers, Katie L., Thorburn, David R., Stroud, David A., Hime, Gary R., Sinclair, Andrew H., Tucker, Elena J.
Publicado 2023

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

por Thompson, Kyle, Mai, Nicole, Oláhová, Monika, Scialó, Filippo, Formosa, Luke E, Stroud, David A, Garrett, Madeleine, Lax, Nichola Z, Robertson, Fiona M, Jou, Cristina, Nascimento, Andres, Ortez, Carlos, Jimenez‐Mallebrera, Cecilia, Hardy, Steven A, He, Langping, Brown, Garry K, Marttinen, Paula, McFarland, Robert, Sanz, Alberto, Battersby, Brendan J, Bonnen, Penelope E, Ryan, Michael T, Chrzanowska‐Lightowlers, Zofia MA, Lightowlers, Robert N, Taylor, Robert W
Publicado 2018

Controlling the Infrared Dielectric Function through Atomic-Scale Heterostructures

por Ratchford, Daniel C., Winta, Christopher J., Chatzakis, Ioannis, Ellis, Chase T., Passler, Nikolai C., Winterstein, Jonathan, Dev, Pratibha, Razdolski, Ilya, Matson, Joseph R., Nolen, Joshua R., Tischler, Joseph G., Vurgaftman, Igor, Katz, Michael B., Nepal, Neeraj, Hardy, Matthew T., Hachtel, Jordan A., Idrobo, Juan-Carlos, Reinecke, Thomas L., Giles, Alexander J., Katzer, D. Scott, Bassim, Nabil D., Stroud, Rhonda M., Wolf, Martin, Paarmann, Alexander, Caldwell, Joshua D.
Publicado 2019

Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly

por Zhang, Shan, Reljić, Boris, Liang, Chao, Kerouanton, Baptiste, Francisco, Joel Celio, Peh, Jih Hou, Mary, Camille, Jagannathan, Narendra Suhas, Olexiouk, Volodimir, Tang, Claire, Fidelito, Gio, Nama, Srikanth, Cheng, Ruey-Kuang, Wee, Caroline Lei, Wang, Loo Chien, Duek Roggli, Paula, Sampath, Prabha, Lane, Lydie, Petretto, Enrico, Sobota, Radoslaw M., Jesuthasan, Suresh, Tucker-Kellogg, Lisa, Reversade, Bruno, Menschaert, Gerben, Sun, Lei, Stroud, David A., Ho, Lena
Publicado 2020

Like-minded sources on Facebook are prevalent but not polarizing

por Nyhan, Brendan, Settle, Jaime, Thorson, Emily, Wojcieszak, Magdalena, Barberá, Pablo, Chen, Annie Y., Allcott, Hunt, Brown, Taylor, Crespo-Tenorio, Adriana, Dimmery, Drew, Freelon, Deen, Gentzkow, Matthew, González-Bailón, Sandra, Guess, Andrew M., Kennedy, Edward, Kim, Young Mie, Lazer, David, Malhotra, Neil, Moehler, Devra, Pan, Jennifer, Thomas, Daniel Robert, Tromble, Rebekah, Rivera, Carlos Velasco, Wilkins, Arjun, Xiong, Beixian, de Jonge, Chad Kiewiet, Franco, Annie, Mason, Winter, Stroud, Natalie Jomini, Tucker, Joshua A.
Publicado 2023

Author Correction: Like-minded sources on Facebook are prevalent but not polarizing

por Nyhan, Brendan, Settle, Jaime, Thorson, Emily, Wojcieszak, Magdalena, Barberá, Pablo, Chen, Annie Y., Allcott, Hunt, Brown, Taylor, Crespo-Tenorio, Adriana, Dimmery, Drew, Freelon, Deen, Gentzkow, Matthew, González-Bailón, Sandra, Guess, Andrew M., Kennedy, Edward, Kim, Young Mie, Lazer, David, Malhotra, Neil, Moehler, Devra, Pan, Jennifer, Thomas, Daniel Robert, Tromble, Rebekah, Rivera, Carlos Velasco, Wilkins, Arjun, Xiong, Beixian, de Jonge, Chad Kiewiet, Franco, Annie, Mason, Winter, Stroud, Natalie Jomini, Tucker, Joshua A.
Publicado 2023

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

por Tucker, Elena J, Baker, Megan J, Hock, Daniella H, Warren, Julia T, Jaillard, Sylvie, Bell, Katrina M, Sreenivasan, Rajini, Bakhshalizadeh, Shabnam, Hanna, Chloe A, Caruana, Nikeisha J, Wortmann, Saskia B, Rahman, Shamima, Pitceathly, Robert D S, Donadieu, Jean, Alimi, Aurelia, Launay, Vincent, Coppo, Paul, Christin-Maitre, Sophie, Robevska, Gorjana, van den Bergen, Jocelyn, Kline, Brianna L, Ayers, Katie L, Stewart, Phoebe N, Stroud, David A, Stojanovski, Diana, Sinclair, Andrew H
Publicado 2022

Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome

por Healy, Michael D., McNally, Kerrie E., Butkovič, Rebeka, Chilton, Molly, Kato, Kohji, Sacharz, Joanna, McConville, Calum, Moody, Edmund R.R., Shaw, Shrestha, Planelles-Herrero, Vicente J., Yadav, Sathish K.N., Ross, Jennifer, Borucu, Ufuk, Palmer, Catherine S., Chen, Kai-En, Croll, Tristan I., Hall, Ryan J., Caruana, Nikeisha J., Ghai, Rajesh, Nguyen, Thi H.D., Heesom, Kate J., Saitoh, Shinji, Berger, Imre, Schaffitzel, Christiane, Williams, Tom A., Stroud, David A., Derivery, Emmanuel, Collins, Brett M., Cullen, Peter J.
Publicado 2023

The Arctic in the Twenty-First Century: Changing Biogeochemical Linkages across a Paraglacial Landscape of Greenland

por Anderson, N. John, Saros, Jasmine E., Bullard, Joanna E., Cahoon, Sean M. P., McGowan, Suzanne, Bagshaw, Elizabeth A., Barry, Christopher D., Bindler, Richard, Burpee, Benjamin T., Carrivick, Jonathan L., Fowler, Rachel A., Fox, Anthony D., Fritz, Sherilyn C., Giles, Madeleine E., Hamerlik, Ladislav, Ingeman-Nielsen, Thomas, Law, Antonia C., Mernild, Sebastian H., Northington, Robert M., Osburn, Christopher L., Pla-Rabès, Sergi, Post, Eric, Telling, Jon, Stroud, David A., Whiteford, Erika J., Yallop, Marian L., Yde, Jacob C.
Publicado 2017

A large, open source dataset of stroke anatomical brain images and manual lesion segmentations

por Liew, Sook-Lei, Anglin, Julia M., Banks, Nick W., Sondag, Matt, Ito, Kaori L., Kim, Hosung, Chan, Jennifer, Ito, Joyce, Jung, Connie, Khoshab, Nima, Lefebvre, Stephanie, Nakamura, William, Saldana, David, Schmiesing, Allie, Tran, Cathy, Vo, Danny, Ard, Tyler, Heydari, Panthea, Kim, Bokkyu, Aziz-Zadeh, Lisa, Cramer, Steven C., Liu, Jingchun, Soekadar, Surjo, Nordvik, Jan-Egil, Westlye, Lars T., Wang, Junping, Winstein, Carolee, Yu, Chunshui, Ai, Lei, Koo, Bonhwang, Craddock, R. Cameron, Milham, Michael, Lakich, Matthew, Pienta, Amy, Stroud, Alison
Publicado 2018

A modified vaccinia Ankara vector-based vaccine protects macaques from SARS-CoV-2 infection, immune pathology, and dysfunction in the lungs

por Routhu, Nanda Kishore, Cheedarla, Narayanaiah, Gangadhara, Sailaja, Bollimpelli, Venkata Satish, Boddapati, Arun K., Shiferaw, Ayalnesh, Rahman, Sheikh Abdul, Sahoo, Anusmita, Edara, Venkata Viswanadh, Lai, Lilin, Floyd, Katharine, Wang, Shelly, Fischinger, Stephanie, Atyeo, Caroline, Shin, Sally A., Gumber, Sanjeev, Kirejczyk, Shannon, Cohen, Joyce, Jean, Sherrie M., Wood, Jennifer S., Connor-Stroud, Fawn, Stammen, Rachelle L., Upadhyay, Amit A., Pellegrini, Kathryn, Montefiori, David, Shi, Pei-Yong, Menachery, Vineet D., Alter, Galit, Vanderford, Thomas H., Bosinger, Steven E., Suthar, Mehul S., Amara, Rama Rao
Publicado 2021

Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience

por Fossey, Robyn, Kochan, David, Winkler, Erin, Pacyna, Joel E., Olson, Janet, Thibodeau, Stephen, Connolly, John J., Harr, Margaret, Behr, Meckenzie A., Prows, Cynthia A., Cobb, Beth, Myers, Melanie F., Leslie, Nancy D., Namjou-Khales, Bahram, Milo Rasouly, Hila, Wynn, Julia, Fedotov, Alexander, Chung, Wendy K., Gharavi, Ali, Williams, Janet L., Pais, Lynn, Holm, Ingrid, Aufox, Sharon, Smith, Maureen E., Scrol, Aaron, Leppig, Kathleen, Jarvik, Gail P., Wiesner, Georgia L., Li, Rongling, Stroud, Mary, Smoller, Jordan W., Sharp, Richard R., Kullo, Iftikhar J.
Publicado 2018

Destabilizers of the thymidylate synthase homodimer accelerate its proteasomal degradation and inhibit cancer growth

por Costantino, Luca, Ferrari, Stefania, Santucci, Matteo, Salo-Ahen, Outi MH, Carosati, Emanuele, Franchini, Silvia, Lauriola, Angela, Pozzi, Cecilia, Trande, Matteo, Gozzi, Gaia, Saxena, Puneet, Cannazza, Giuseppe, Losi, Lorena, Cardinale, Daniela, Venturelli, Alberto, Quotadamo, Antonio, Linciano, Pasquale, Tagliazucchi, Lorenzo, Moschella, Maria Gaetana, Guerrini, Remo, Pacifico, Salvatore, Luciani, Rosaria, Genovese, Filippo, Henrich, Stefan, Alboni, Silvia, Santarem, Nuno, da Silva Cordeiro, Anabela, Giovannetti, Elisa, Peters, Godefridus J, Pinton, Paolo, Rimessi, Alessandro, Cruciani, Gabriele, Stroud, Robert M, Wade, Rebecca C, Mangani, Stefano, Marverti, Gaetano, D'Arca, Domenico, Ponterini, Glauco, Costi, Maria Paola
Publicado 2022