Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

por Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Publicado 2020

Dermatology COVID-19 Registries: Updates and Future Directions

por Freeman, Esther E., Chamberlin, Grace C., McMahon, Devon E., Hruza, George J., Wall, Dmitri, Meah, Nekma, Sinclair, Rodney, Balogh, Esther A., Feldman, Steven R., Lowes, Michelle A., Marzano, Angelo V., Naik, Haley B., Castelo-Soccio, Leslie, Lara-Corrales, Irene, Cordoro, Kelly M., Mahil, Satveer K., Griffiths, Christopher E.M., Smith, Catherine H., Irvine, Alan D., Spuls, Phyllis I., Flohr, Carsten, French, Lars E.
Publicado 2021

Partnership Between a Federal Agency and 4 Tribal Nations to Improve COVID-19 Response Capacities

por Kaur, Harpriya, Welch, Seh, Bhairavabhotla, Ravikiran, Weidle, Paul J., Santibanez, Scott, Haberling, Dana L., Smith, Eva M., Ferris-George, Wendy, Hayashi, Konrad, Hostler, Allie, Ao, Trong, Dieke, Ada, Boyer, Devon, King, Eric, Teton, Randy’L, Williams-Singleton, Nickie, Flying, Eva M., Hladik, Wolfgang, Marshall, Khiya J., Pourier, Delores, Ruiz, Zuleyma, Yatabe, Graydon, Abe, Karon, Parise, Monica, Anderson, Mark, Evans, Mary E., Hunt, Holly, Balajee, S. Arunmozhi
Publicado 2022

Modulation of FGF pathway signaling and vascular differentiation using designed oligomeric assemblies

por Edman, Natasha I, Redler, Rachel L, Phal, Ashish, Schlichthaerle, Thomas, Srivatsan, Sanjay R, Etemadi, Ali, An, Seong J, Favor, Andrew, Ehnes, Devon, Li, Zhe, Praetorius, Florian, Gordon, Max, Yang, Wei, Coventry, Brian, Hicks, Derrick R., Cao, Longxing, Bethel, Neville, Heine, Piper, Murray, Analisa, Gerben, Stacey, Carter, Lauren, Miranda, Marcos, Negahdari, Babak, Lee, Sangwon, Trapnell, Cole, Stewart, Lance, Ekiert, Damian C., Schlessinger, Joseph, Shendure, Jay, Bhabha, Gira, Ruohola-Baker, Hannele, Baker, David
Publicado 2023

Heterogeneity in the inter-tumor transcriptome of high risk prostate cancer

por Wyatt, Alexander W, Mo, Fan, Wang, Kendric, McConeghy, Brian, Brahmbhatt, Sonal, Jong, Lina, Mitchell, Devon M, Johnston, Rebecca L, Haegert, Anne, Li, Estelle, Liew, Janet, Yeung, Jake, Shrestha, Raunak, Lapuk, Anna V, McPherson, Andrew, Shukin, Robert, Bell, Robert H, Anderson, Shawn, Bishop, Jennifer, Hurtado-Coll, Antonio, Xiao, Hong, Chinnaiyan, Arul M, Mehra, Rohit, Lin, Dong, Wang, Yuzhuo, Fazli, Ladan, Gleave, Martin E, Volik, Stanislav V, Collins, Colin C
Publicado 2014

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

por Tao, Feifei, Beecham, Gary W., Rebelo, Adriana P., Blanton, Susan H., Moran, John J., Lopez-Anido, Camila, Svaren, John, Abreu, Lisa, Rizzo, Devon, Kirk, Callyn A., Wu, Xingyao, Feely, Shawna, Verhamme, Camiel, Saporta, Mario A., Herrmann, David N., Day, John W., Sumner, Charlotte J., Lloyd, Thomas E., Li, Jun, Yum, Sabrina W., Taroni, Franco, Baas, Frank, Choi, Byung-Ok, Pareyson, Davide, Scherer, Steven S., Reilly, Mary M., Shy, Michael E., Züchner, Stephan
Publicado 2019

Clinical course of severe and critical coronavirus disease 2019 in hospitalized pregnancies: a United States cohort study

por Pierce-Williams, Rebecca A.M., Burd, Julia, Felder, Laura, Khoury, Rasha, Bernstein, Peter S., Avila, Karina, Penfield, Christina A., Roman, Ashley S., DeBolt, Chelsea A., Stone, Joanne L., Bianco, Angela, Kern-Goldberger, Adina R., Hirshberg, Adi, Srinivas, Sindhu K., Jayakumaran, Jenani S., Brandt, Justin S., Anastasio, Hannah, Birsner, Meredith, O’Brien, Devon S., Sedev, Harish M., Dolin, Cara D., Schnettler, William T., Suhag, Anju, Ahluwalia, Shabani, Navathe, Reshama S., Khalifeh, Adeeb, Anderson, Kathryn, Berghella, Vincenzo
Publicado 2020

International collaboration and rapid harmonization across dermatologic COVID-19 registries

por Freeman, Esther E., McMahon, Devon E., Hruza, George J., Irvine, Alan D., Spuls, Phyllis I., Smith, Catherine H., Mahil, Satveer K., Castelo-Soccio, Leslie, Cordoro, Kelly M., Lara-Corrales, Irene, Naik, Haley B., Alhusayen, Raed, Ingram, John R., Feldman, Steven R., Balogh, Esther A., Kappelman, Michael D., Wall, Dmitri, Meah, Nekma, Sinclair, Rodney, Beylot-Barry, Marie, Fitzgerald, Matthew, French, Lars E., Lim, Henry W., Griffiths, Christopher E.M., Flohr, Carsten
Publicado 2020

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

por Schoch, Kelly, Esteves, Cecilia, Bican, Anna, Spillmann, Rebecca, Cope, Heidi, McConkie-Rosell, Allyn, Walley, Nicole, Fernandez, Liliana, Kohler, Jennefer N, Bonner, Devon, Reuter, Chloe, Stong, Nicholas, Mulvihill, John J., Novacic, Donna, Wolfe, Lynne, Abdelbaki, Ayat, Toro, Camilo, Tifft, Cyndi, Malicdan, May, Gahl, William, Liu, Pengfei, Newman, John, Goldstein, David B., Hom, Jason, Sampson, Jacinda, Wheeler, Matthew T., Cogan, Joy, Bernstein, Jonathan A., Adams, David R., McCray, Alexa T., Shashi, Vandana
Publicado 2020

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

por Beijer, Danique, Kim, Hong Joo, Guo, Lin, O’Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M., Drake, Lauren E., Ford, Alice F., Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C., Lemmers, Richard J.L.F., van der Maarel, Silvère M., Bonner, Devon, Sampson, Jacinda B., Wheeler, Matthew T., Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J. Paul, Baets, Jonathan
Publicado 2021

Framework for advancing rigorous research

por Koroshetz, Walter J, Behrman, Shannon, Brame, Cynthia J, Branchaw, Janet L, Brown, Emery N, Clark, Erin A, Dockterman, David, Elm, Jordan J, Gay, Pamela L, Green, Katelyn M, Hsi, Sherry, Kaplitt, Michael G, Kolber, Benedict J, Kolodkin, Alex L, Lipscombe, Diane, MacLeod, Malcolm R, McKinney, Caleb C, Munafò, Marcus R, Oakley, Barbara, Olimpo, Jeffrey T, Percie du Sert, Nathalie, Raman, Indira M, Riley, Ceri, Shelton, Amy L, Uzzo, Stephen Miles, Crawford, Devon C, Silberberg, Shai D
Publicado 2020

SARS-CoV-2 and other respiratory pathogens are detected in continuous air samples from congregate settings

por Ramuta, Mitchell D., Newman, Christina M., Brakefield, Savannah F., Stauss, Miranda R., Wiseman, Roger W., Kita-Yarbro, Amanda, O’Connor, Eli J., Dahal, Neeti, Lim, Ailam, Poulsen, Keith P., Safdar, Nasia, Marx, John A., Accola, Molly A., Rehrauer, William M., Zimmer, Julia A., Khubbar, Manjeet, Beversdorf, Lucas J., Boehm, Emma C., Castañeda, David, Rushford, Clayton, Gregory, Devon A., Yao, Joseph D., Bhattacharyya, Sanjib, Johnson, Marc C., Aliota, Matthew T., Friedrich, Thomas C., O’Connor, David H., O’Connor, Shelby L.
Publicado 2022

SARS-CoV-2 and other respiratory pathogens are detected in continuous air samples from congregate settings

por Ramuta, Mitchell D., Newman, Christina M., Brakefield, Savannah F., Stauss, Miranda R., Wiseman, Roger W., Kita-Yarbro, Amanda, O’Connor, Eli J., Dahal, Neeti, Lim, Ailam, Poulsen, Keith P., Safdar, Nasia, Marx, John A., Accola, Molly A., Rehrauer, William M., Zimmer, Julia A., Khubbar, Manjeet, Beversdorf, Lucas J., Boehm, Emma C., Castañeda, David, Rushford, Clayton, Gregory, Devon A., Yao, Joseph D., Bhattacharyya, Sanjib, Johnson, Marc C., Aliota, Matthew T., Friedrich, Thomas C., O’Connor, David H., O’Connor, Shelby L.
Publicado 2022

Cancer detection in clinical practice and using blood‐based liquid biopsy: A retrospective audit of over 350 dogs

por Flory, Andi, McLennan, Lisa, Peet, Betsy, Kroll, Marissa, Stuart, Deirdre, Brown, Devon, Stuebner, Kathy, Phillips, Brenda, Coomber, Brenda L., Woods, J. Paul, Miller, Mairin, Tripp, Chelsea D., Wolf‐Ringwall, Amber, Kruglyak, Kristina M., McCleary‐Wheeler, Angela L., Phelps‐Dunn, Ashley, Wong, Lilian K., Warren, Chelsea D., Brandstetter, Gina, Rosentel, Michelle C., DiMarzio, Lauren R., O'Kell, Allison L., Cohen, Todd A., Grosu, Daniel S., Chibuk, Jason, Tsui, Dana W. Y., Chorny, Ilya, Rafalko, Jill M.
Publicado 2023

Worldwide Argus II implantation: recommendations to optimize patient outcomes

por Ghodasra, Devon H., Chen, Adrienne, Arevalo, J. Fernando, Birch, David G., Branham, Kari, Coley, Brian, Dagnelie, Gislin, de Juan, Eugene, Devenyi, Robert G., Dorn, Jessy D., Fisher, Andy, Geruschat, Duane R., Gregori, Ninel Z., Greenberg, Robert J., Hahn, Paul, Ho, Allen C., Howson, Ashley, Huang, Suber S., Iezzi, Raymond, Khan, Naheed, Lam, Byron L., Lim, Jennifer I., Locke, Kirsten G., Markowitz, Michelle, Ripley, Anne-Marie, Rankin, Mark, Schimitzek, Hannah, Tripp, Fay, Weiland, James D., Yan, Jiong, Zacks, David N., Jayasundera, K. Thiran
Publicado 2016

Erratum to: Worldwide Argus II implantation: recommendations to optimize patient outcomes

por Ghodasra, Devon H., Chen, Adrienne, Arevalo, J. Fernando, Birch, David G., Branham, Kari, Coley, Brian, Dagnelie, Gislin, de Juan, Eugene, Devenyi, Robert G., Dorn, Jessy D., Fisher, Andy, Geruschat, Duane R., Gregori, Ninel Z., Greenberg, Robert J., Hahn, Paul, Ho, Allen C., Howson, Ashley, Huang, Suber S., Iezzi, Raymond, Khan, Naheed, Lam, Byron L., Lim, Jennifer I., Locke, Kirsten G., Markowitz, Michelle, Ripley, Anne-Marie, Rankin, Mark, Schimitzek, Hannah, Tripp, Fay, Weiland, James D., Yan, Jiong, Zacks, David N., Jayasundera, K. Thiran
Publicado 2016

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

por Brownstein, Catherine A., Smith, Richard S., Rodan, Lance H., Gorman, Mark P., Hojlo, Margaret A., Garvey, Emily A., Li, Jianqiao, Cabral, Kristin, Bowen, Joshua J., Rao, Abhijit S., Genetti, Casie A., Carroll, Devon, Deaso, Emma A., Agrawal, Pankaj B., Rosenfeld, Jill A., Bi, Weimin, Howe, Jennifer, Stavropoulos, Dimitri J., Hansen, Adam W., Hamoda, Hesham M., Pinard, Ferne, Caracansi, Annmarie, Walsh, Christopher A., D’Angelo, Eugene J., Beggs, Alan H., Zarrei, Mehdi, Gibbs, Richard A., Scherer, Stephen W., Glahn, David C., Gonzalez-Heydrich, Joseph
Publicado 2021

Genomic surveillance of SARS-CoV-2 Omicron variants on a university campus

por Weil, Ana A., Luiten, Kyle G., Casto, Amanda M., Bennett, Julia C., O’Hanlon, Jessica, Han, Peter D., Gamboa, Luis S., McDermot, Evan, Truong, Melissa, Gottlieb, Geoffrey S., Acker, Zack, Wolf, Caitlin R., Magedson, Ariana, Chow, Eric J., Lo, Natalie K., Pothan, Lincoln C., McDonald, Devon, Wright, Tessa C., McCaffrey, Kathryn M., Figgins, Marlin D., Englund, Janet A., Boeckh, Michael, Lockwood, Christina M., Nickerson, Deborah A., Shendure, Jay, Bedford, Trevor, Hughes, James P., Starita, Lea M., Chu, Helen Y.
Publicado 2022

Every-other-day feeding extends lifespan but fails to delay many symptoms of aging in mice

por Xie, Kan, Neff, Frauke, Markert, Astrid, Rozman, Jan, Aguilar-Pimentel, Juan Antonio, Amarie, Oana Veronica, Becker, Lore, Brommage, Robert, Garrett, Lillian, Henzel, Kristin S., Hölter, Sabine M., Janik, Dirk, Lehmann, Isabelle, Moreth, Kristin, Pearson, Brandon L., Racz, Ildiko, Rathkolb, Birgit, Ryan, Devon P., Schröder, Susanne, Treise, Irina, Bekeredjian, Raffi, Busch, Dirk H., Graw, Jochen, Ehninger, Gerhard, Klingenspor, Martin, Klopstock, Thomas, Ollert, Markus, Sandholzer, Michael, Schmidt-Weber, Carsten, Weiergräber, Marco, Wolf, Eckhard, Wurst, Wolfgang, Zimmer, Andreas, Gailus-Durner, Valerie, Fuchs, Helmut, Hrabě de Angelis, Martin, Ehninger, Dan
Publicado 2017

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

por Frésard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B.
Publicado 2019