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1. Time Series Dataset for Modeling and Forecasting of $N_2O$ in Wastewater Treatment

Author

Hansen, Laura Debel, Rani, Anju, Stokholm-Bjerregaard, Mikkel Algren, Stentoft, Peter Alexander, Arroyo, Daniel Ortiz, and Durdevic, Petar

Subjects
Electrical Engineering and Systems Science - Systems and Control
Abstract

In this paper, we present two years of high-resolution nitrous oxide ($N_2O$) measurements for time series modeling and forecasting in wastewater treatment plants (WWTP). The dataset comprises frequent, real-time measurements from a full-scale WWTP, with a sample interval of 2 minutes, making it ideal for developing models for real-time operation and control. This comprehensive bio-chemical dataset includes detailed influent and effluent parameters, operational conditions, and environmental factors. Unlike existing datasets, it addresses the unique challenges of modeling $N_2O$, a potent greenhouse gas, providing a valuable resource for researchers to enhance predictive accuracy and control strategies in wastewater treatment processes. Additionally, this dataset significantly contributes to the fields of machine learning and deep learning time series forecasting by serving as a benchmark that mirrors the complexities of real-world processes, thus facilitating advancements in these domains. We provide a detailed description of the dataset along with a statistical analysis to highlight its characteristics, such as nonstationarity, nonnormality, seasonality, heteroscedasticity, structural breaks, asymmetric distributions, and intermittency, which are common in many real-world time series datasets and pose challenges for forecasting models., Comment: 10 pages, 4 figures. This publication accompanies the Mendeley dataset available at this URL (version 1): https://data.mendeley.com/datasets/xmbxhscgpr/1

Published
2024

2. The unpaved road towards efficient selective breeding in insects for food and feed

Author

Hansen, Laura Skrubbeltrang, Laursen, Stine Frey, Bahrndorff, Simon, Sørensen, Jesper Givskov, Sahana, Goutam, Kristensen, Torsten Nygaard, and Nielsen, Hanne Marie

Subjects
Quantitative Biology - Other Quantitative Biology
Abstract

Insect production for food and feed presents a promising supplement to ensure food safety and address the adverse impacts of agriculture on climate and environment in the future. However, optimisation is required for insect production to realise its full potential. This can be by targeted improvement of traits of interest through selective breeding, an approach which has so far been underexplored and underutilised in insect farming. Here we present a comprehensive review of the selective breeding framework in the context of insect production. We systematically evaluate adjustments of selective breeding techniques to the realm of insects and highlight the essential components integral to the breeding process. The discussion covers every step of a conventional breeding scheme, such as formulation of breeding objectives, phenotyping, estimation of genetic parameters and breeding values, selection of appropriate breeding strategies, and mitigation of issues associated with genetic diversity depletion and inbreeding. This review combines knowledge from diverse disciplines, bridging the gap between animal breeding, quantitative genetics, evolutionary biology, and entomology, offering an integrated view of the insect breeding research area and uniting knowledge which has previously remained scattered across diverse fields of expertise.

Published
2024
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9. Generalizable Kidney Segmentation for Total Volume Estimation

Author

Raj, Anish, Hansen, Laura, Tollens, Fabian, Nörenberg, Dominik, Villa, Giulia, Caroli, Anna, Zöllner, Frank G., Gesellschaft für Informatik e.V. (GI), Maier, Andreas, editor, Deserno, Thomas M., editor, Handels, Heinz, editor, Maier-Hein, Klaus, editor, Palm, Christoph, editor, and Tolxdorff, Thomas, editor

Published
2024
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12. Early trajectories of virological and immunological biomarkers and clinical outcomes in patients admitted to hospital for COVID-19: an international, prospective cohort study

Author

Sahner, David, Tierney, John, Vogel, Susan E., Herpin, Betsey R., Smolskis, Mary C., McKay, Laura A., Cahill, Kelly, Crew, Page, Sardana, Ratna, Raim, Sharon Segal, Hensely, Lisa, Lorenzo, Johsua, Mock, Rebecca, Zuckerman, Judith, Atri, Negin, Miller, Mark, Vallee, David, Chung, Lucy, Kang, Nayon, Barrett, Kevin, Adam, Stacey J., Read, Sarah, Draghia-Akli, Ruxandra, Currier, Judy, Hughes, Eric, Harrigan, Rachel H., Amos, Laura, Carlsen, Amy, Carter, Anita, Collins, Gary, Davis, Bionca, Denning, Eileen, DuChene, Alain, Eckroth, Kate, Engen, Nicole, Frase, Alex, Gandits, Greg, Grund, Birgit, Harrison, Merrie, Hurlbut, Nancy, Kaiser, Payton, Koopmeiners, Joseph, Larson, Gregg, Meger, Sue, Mistry, Shweta Sharma, Murray, Thomas, Nelson, Ray, Quan, Kien, Quan, Siu Fun, Reilly, Cavan, Siegel, Lianne, Thompson, Greg, Vock, David, Walski, Jamie, Gelijns, Annetine C., Moskowitz, Alan J., Bagiella, Emilia, Moquete, Ellen, O'Sullivan, Karen, Marks, Mary E., Accardi, Evan, Kinzel, Emily, Burris, Sarah, Bedoya, Gabriela, Gupta, Lola, Overbey, Jessica R., Santos, Milerva, Gillinov, Marc A., Miller, Marissa A., Taddei-Peters, Wendy C., Fenton, Kathleen, Sandkovsky, Uriel, Gottlieb, Robert L., Mack, Michael, Berhe, Mezgebe, Haley, Clinton, Dishner, Emma, Bettacchi, Christopher, Golden, Kevin, Duhaime, Erin, Ryan, Madison, Tallmadge, Catherine, Estrada, Lorie, Jones, Felecia, Villa, Samatha, Wang, Samatha, Robert, Raven, Coleman, Tanquinisha, Clariday, Laura, Baker, Rebecca, Hurutado-Rodriguez, Mariana, Iram, Nazia, Fresnedo, Michelle, Davis, Allyson, Leonard, Kiara, Ramierez, Noelia, Thammavong, Jon, Duque, Krizia, Turner, Emma, Fisher, Tammy, Robinson, Dianna, Ransom, Desirae, Maldonado, Nicholas, Lusk, Erica, Killian, Aaron, Palacious, Adriana, Solis, Edilia, Jerrow, Janet, Watts, Matthew, Whitacre, Heather, Cothran, Elizabeth, Smith, Peter K., Barkauskas, Christina E., Vekstein, Andrew M., Ko, Emily R., Dreyer, Grace R., Stafford, Neil, Brooks, Megan, Der, Tatyana, Witte, Marie, Gamarallage, Ruwan, Franzone, John, Ivey, Noel, Lumsden, Rebecca H., Mosaly, Nilima, Mourad, Ahmaad, Holland, Thomas L., Motta, Mary, Lane, Kathleen, McGowan, Lauren M., Stout, Jennifer, Aloor, Heather, Bragg, Kennesha M., Toledo, Barvina, McLendon-Arvik, Beth, Bussadori, Barbara, Hollister, Beth A., Griffin, Michelle, Giangiacomo, Dana M., Rodriguez, Vicente, Bokhart, Gordon, Eichman, Sharon M., Parrino, Patrick E., Spindel, Stephen, Bansal, Aditya, Baumgarten, Katherine, Hand, Johnathan, Vonderhaar, Derek, Nossaman, Bobby, Sylvia Laudun, Ames, DeAnna, Broussard, Shane, Hernandez, Nilmo, Isaac, Geralyn, Dinh, Huan, Zheng, Yiling, Tran, Sonny, McDaniel, Hunter, Crovetto, Nicolle, Perin, Emerson, Costello, Briana, Manian, Prasad, Sohail, M. Rizwan, Postalian, Alexander, Hinsu, Punit, Watson, Carolyn, Chen, James, Fink, Melyssa, Sturgis, Lydia, Walker, Kim, Mahon, Kim, Parenti, Jennifer, Kappenman, Casey, Knight, Aryn, Sturek, Jeffrey M., Barros, Andrew, Enfield, Kyle B., Kadl, Alexandra, Green, China J., Simon, Rachel M., Fox, Ashley, Thornton, Kara, Adams, Amy, Badhwar, Vinay, Sharma, Sunil, Peppers, Briana, McCarthy, Paul, Krupica, Troy, Sarwari, Arif, Reece, Rebecca, Fornaresico, Lisa, Glaze, Chad, Evans, Raquel, Di, Fang, Carlson, Shawn, Aucremanne, Tanja, Tennant, Connie, Sutton, Lisa Giblin, Buterbaugh, Sabrina, Williams, Roger, Bunner, Robin, Traverse, Jay H., Rhame, Frank, Huelster, Joshua, Kethireddy, Rajesh, Davies, Irena, Salamanca, Julianne, Majeski, Christine, Skelton, Paige, Zarambo, Maria, Sarafolean, Andrea, Bowdish, Michael E., Borok, Zea, Wald-Dickler, Noah, Hutcheon, Douglass, Towfighi, Amytis, Lee, Mary, Lewis, Meghan R., Spellberg, Brad, Sher, Linda, Sharma, Aniket, Olds, Anna P., Justino, Chris, Loxano, Edward, Romero, Chris, Leong, Janet, Rodina, Valentina, Quesada, Christine, Hamilton, Luke, Escobar, Jose, Leshnower, Brad, Bender, William, Sharifpour, Milad, Miller, Jeffrey, Farrington, Woodrow, Baio, Kim T., McBride, Mary, Fielding, Michele, Mathewson, Sonya, Porte, Kristina, Maton, Missy, Ponder, Chari, Haley, Elisabeth, Spainhour, Christine, Rogers, Susan, Tyler, Derrick, Madathil, Ronson J., Rabin, Joseph, Levine, Andrea, Saharia, Kapil, Tabatabai, Ali, Lau, Christine, Gammie, James S., Peguero, Maya-Loren, McKernan, Kimberly, Audette, Mathew, Fleischmann, Emily, Akbari, Kreshta, Lee, Myounghee, Chi, Andrew, Salehi, Hanna, Pariser, Alan, Nyguyen, Phuong Tran, Moore, Jessica, Gee, Adrienne, Vincent, Shelika, Zuckerman, Richard A., Iribarne, Alexander, Metzler, Sara, Shipman, Samantha, Johnson, Haley, Newton, Crystallee, Parr, Doug, Miller, Leslie, Schelle, Beth, McLean, Sherry, Rothbaum, Howard R., Alvarez, Michael S., Kalan, Shivam P., Germann, Heather H., Hendershot, Jennifer, Moroney, Karen, Herring, Karen, Cook, Sharri, Paul, Pam, Walker-Ignasiak, Rebecca, North, Crystal, Oldmixon, Cathryn, Ringwood, Nancy, Muzikansky, Ariela, Morse, Richard, Fitzgerald, Laura, Morin, Haley D., Brower, Roy G., Reineck, Lora A., Bienstock, Karen, Steingrub, Jay H., Hou, Peter K., Steingrub, Jay S., Tidswell, Mark A., Kozikowski, Lori-Ann, Kardos, Cynthia, DeSouza, Leslie, Romain, Sarah, Thornton-Thompson, Sherell, Talmor, Daniel, Shapiro, Nathan, Andromidas, Konstantinos, Banner-Goodspeed, Valerie, Bolstad, Michael, Boyle, Katherine L., Cabrera, Payton, deVilla, Arnaldo, Ellis, Joshua C., Grafals, Ana, Hayes, Sharon, Higgins, Conor, Kurt, Lisa, Kurtzman, Nicholas, Redman, Kimberly, Rosseto, Elinita, Scaffidi, Douglas, Filbin, Michael R., Hibbert, Kathryn A., Parry, Blair, Margolin, Justin, Hillis, Brooklynn, Hamer, Rhonda, Brait, Kelsey, Beakes, Caroline, McKaig, Brenna, Kugener, Eleonore, Jones, Alan E., Galbraith, James, Nandi, Utsav, Peacock, Rebekah, Hendey, Gregory, Kangelaris, Kirsten, Ashktorab, Kimia, Gropper, Rachel, Agrawal, Anika, Yee, Kimberley J., Jauregui, Alejandra E., Zhuo, Hanjing, Almasri, Eyad, Fayed, Mohamed, Hubel, Kinsley A., Hughes, Alyssa R., Garcia, Rebekah L., Lim, George W., Chang, Steven Y., Lin, Michael Y., Vargas, Julia, Sihota, Hena, Beutler, Rebecca, Agarwal, Trisha, Wilson, Jennifer G., Vojnik, Rosemary, Perez, Cynthia, McDowell, Jordan H., Roque, Jonasel, Wang, Henry, Huebinger, Ryan M., Patel, Bela, Vidales, Elizabeth, Albertson, Timothy, Hardy, Erin, Harper, Richart, Moss, Marc A., Baduashvili, Amiran, Chauhan, Lakshmi, Douin, David J., Martinez, Flora, Finck, Lani L., Bastman, Jill, Howell, Michelle, Higgins, Carrie, McKeehan, Jeffrey, Finigan, Jay, Stubenrauch, Peter, Janssen, William J., Griesmer, Christine, VerBurg, Olivia, Hyzy, Robert C., Park, Pauline K., Nelson, Kristine, McSparron, Jake I., Co, Ivan N., Wang, Bonnie R., Jimenez, Jose, Olbrich, Norman, McDonough, Kelli, Jia, Shijing, Hanna, Sinan, Gong, Michelle N., Richardson, Lynne D., Nair, Rahul, Lopez, Brenda, Amosu, Omowunmi, Offor, Obiageli, Tzehaie, Hiwet, Nkemdirim, William, Boujid, Sabah, Mosier, Jarrod M., Hypes, Cameron, Campbell, Elizabeth Salvagio, Bixby, Billie, Gilson, Boris, Lopez, Anitza, Bime, Christian, Parthasarathy, Sairam, Cano, Ariana M., Hite, R. Duncan, Terndrup, Thomas E., Wiedemann, Herbert P., Hudock, Kristin, Tanzeem, Hammad, More, Harshada, Martinkovic, Jamie, Sellers, Susan, Houston, Judy, Burns, Mary, Kiran, Simra, Roads, Tammy, Kennedy, Sarah, Duggal, Abhijit, Thiruchelvam, Nirosshan, Ashok, Kiran, King, Alexander H., Mehkri, Omar, Dugar, Siddharth, Sahoo, Debasis, Yealy, Donald M., Angus, Derek C., Weissman, Alexandra J., Vita, Tina M., Berryman, Emily, Hough, Catherine L., Khan, Akram, Krol, Olivia F., Mills, Emmanuel, Kinjal, Mistry, Briceno, Genesis, Reddy, Raju, Hubel, Kinsley, Jouzestani, Milad K., McDougal, Madeline, Deshmukh, Rupali, Johnston, Nicholas J., Robinson, Bryce H., Gundel, Staphanie J., Katsandres, Sarah C., Chen, Peter, Torbati, Sam S., Parimon, Tanyalak, Caudill, Antonina, Mattison, Brittany, Jackman, Susan E., Chen, Po-En, Bayoumi, Emad, Ojukwu, Cristabelle, Fine, Devin, Weissberg, Gwendolyn, Isip, Katherine, Choi-Kuaea, Yunhee, Mehdikhani, Shaunt, Dar, Tahir B., Fleury Augustin, Nsole Biteghe, Tran, Dana, Dukov, Jennifer Emilow, Matusov, Yuri, Choe, June, Hindoyan, Niree A., Wynter, Timothy, Pascual, Ethan, Clapham, Gregg J., Herrera, Lisa, Caudill, Antonia, O’Mahony, D. Shane, Nyatsatsang, Sonam T., Wilson, David M., Wallick, Julie A., Duven, Alexandria M., Fletcher, Dakota D., Miller, Chadwick, Files, D. Clark, Gibbs, Kevin W., Flores, Lori S., LaRose, Mary E., Landreth, Leigha D., Palacios, D. Rafael, Parks, Lisa, Hicks, Madeline, Goodwin, Andrew J., Kilb, Edward F., Lematty, Caitlan T., Patti, Kerilyn, Grady, Abigail, Rasberry, April, Morris, Peter E., Sturgill, Jamie L., Cassity, Evan P., Dhar, Sanjay, Montgomery-Yates, Ashley A., Pasha, Sarah N., Mayer, Kirby P., Pharm.D., Brittany Bissel, Trott, Terren, Rehman, Shahnaz, de Wit, Marjolein, Mason, Jessica, Bledsoe, Joseph, Knowlton, Kirk U., Brown, Samuel, Lanspa, Michael, Leither, Lindsey, Pelton, Ithan, Armbruster, Brent P., Montgomery, Quinn, Kumar, Naresh, Fergus, Melissa, Imel, Karah, Palmer, Ghazal, Webb, Brandon, Klippel, Carolyn, Jensen, Hannah, Duckworth, Sarah, Gray, Andrew, Burke, Tyler, Knox, Dan, Lumpkin, Jenna, Aston, Valerie T., Applegate, Darrin, Serezlic, Erna, Brown, Katie, Merril, Mardee, Harris, Estelle S., Middleton, Elizabeth A., Barrios, Macy A.G., Greer, Jorden, Schmidt, Amber D., Webb, Melissa K., Paine, Roert, Callahan, Sean J., Waddoups, Lindsey J., Yamane, Misty B., Self, Wesley H., Rice, Todd W., Casey, Jonathan D., Johnson, Jakea, Gray, Christopher, Hays, Margaret, Roth, Megan, Menon, Vidya, Kasubhai, Moiz, Pillai, Anjana, Daniel, Jean, Sittler, Daniel, Kanna, Balavenkatesh, Jilani, Nargis, Amaro, Francisco, Santana, Jessica, Lyakovestsky, Aleksandr, Madhoun, Issa, Desroches, Louis Marie, Amadon, Nicole, Bahr, Alaa, Ezzat, Imaan, Guerrero, Maryanne, Padilla, Joane, Fullmer, Jessie, Singh, Inderpreet, Ali Shah, Syed Hamad, Narang, Rajeev, Mock, Polly, Shadle, Melissa, Hernandez, Brenda, Welch, Kevin, Payne, Andrea, Ertl, Gabriela, Canario, Daniel, Barrientos, Isabel, Goss, Danielle, DeVries, Mattie, Folowosele, Ibidolapo, Garner, Dorothy, Gomez, Mariana, Price, Justin, Bansal, Ekta, Wong, Jim, Faulhaber, Jason, Fazili, Tasaduq, Yeary, Brian, Ndolo, Ruth, Bryant, Christina, Smigeil, Bridgette, Robinson, Philip, Najjar, Rana, Jones, Patrice, Nguyen, Julie, Chin, Christina, Taha, Hassan, Najm, Salah, Smith, Christopher, Moore, Jason, Nassar, Talal, Gallinger, Nick, Christian, Amy, Mauer, D’Amber, Phipps, Ashley, Waters, Michael, Zepeda, Karla, Coslet, Jordan, Landazuri, Rosalynn, Pineda, Jacob, Uribe, Nicole, Garcia, Jose Ruiz, Barbabosa, Cecilia, Sandler, Kaitlyn, Overcash, J. Scott, Marquez, Adrienna, Chu, Hanh, Lee, Kia, Quillin, Kimberly, Garcia, Andrea, Lew, Pauline, Rogers, Ralph, Shehadeh, Fadi, Mylona, Evangelia K., Kaczynski, Matthew, Tran, Quynh-Lam, Benitez, Gregorio, Mishra, Biswajit, Felix, Lewis Oscar, Vafea, Maria Tsikala, Atalla, Eleftheria, Davies, Robin, Hedili, Salma, Monkeberg, Maria Andrea, Tabler, Sandra, Harrington, Britt, Meegada, Sreenath, Koripalli, Venkata Sandeep, Muddana, Prithvi, Jain, Lakshay, Undavalli, Chaitanya, Kavya, Parasa, Ibiwoye, Mofoluwaso, Akilo, Hameed, Lovette, Bryce D., Wylie, Jamie-Crystal, Smith, Diana M., Poon, Kenneth, Eckardt, Paula, Heysu, Rubio-Gomez, Sundararaman, Nithya, Alaby, Doris, Sareli, Candice, Sánchez, Adriana, Popielski, Laura, Kambo, Amy, Viens, Kimberley, Turner, Melissa, Vjecha, Michael J., Weintrob, Amy, Brar, Indira, Markowitz, Norman, Pastor, Erika, Corpuz, Roweena, Alangaden, George, McKinnon, John, Ramesh, Mayur, Herc, Erica, Yared, Nicholas, Lanfranco, Odaliz Abreu, Rivers, Emanuel, Swiderek, Jennifer, Gupta, Ariella Hodari, Pabla, Pardeep, Eliya, Sonia, Jazrawi, Jehan, Delor, Jeremy, Desai, Mona, Cook, Aaron, Jaehne, Anja Kathrina, Gill, Jasreen Kaur, Renaud, Sheri, Sarveswaran, Siva, Gardner, Edward, Scott, James, Bianchini, Monica, Melvin, Casey, Kim, Gina, Wyles, David, Kamis, Kevin, Miller, Rachel, Douglas, Ivor, Haukoos, Jason, Hicks, Carrie, Lazarte, Susana, Marines-Price, Rubria, Osuji, Alice, Agbor Agbor, Barbine Tchamba, Petersen, Tianna, Kamel, Dena, Hansen, Laura, Garcia, Angie, Cha, Christine, Mozaffari, Azadeh, Hernandez, Rosa, Cutrell, James, Kim, Mina, DellaValle, Natalie, Gonzales, Sonia, Somboonwit, Charurut, Oxner, Asa, Guerra, Lucy, Hayes, Michael, Nguyen, Thi, Tran, Thanh, Pinto, Avenette, Hatlen, Timothy, Anderson, Betty, Zepeda-Gutierrez, Ana, Martin, Dannae, Temblador, Cindi, Cuenca, Avon, Tanoviceanu, Roxanne, Prieto, Martha, Guerrero, Mario, Daar, Eric, Correa, Ramiro, Hartnell, Gabe, Wortmann, Glenn, Doshi, Saumil, Moriarty, Theresa, Gonzales, Melissa, Garman, Kristin, Baker, Jason V., Frosch, Anne, Goldsmith, Rachael, Driver, Brian, Frank, Christine, Leviton, Tzivia, Prekker, Matthew, Jibrell, Hodan, Lo, Melanie, Klaphake, Jonathan, Mackedanz, Shari, Ngo, Linh, Garcia-Myers, Kelly, Kunisaki, Ken M., Wendt, Chris, Melzer, Anne, Wetherbee, Erin, Drekonja, Dimitri, Pragman, Alexa, Hamel, Aimee, Thielen, Abbie, Hassler, Miranda, Walquist, Mary, Augenbraun, Michael, George, Jensen, Demeo, Lynette, Mishko, Motria, Thomas, Lorraine, Tatem, Luis, Dehovitz, Jack, Abassi, Mahsa, Leuck, Anne-Marie, Rao, Via, Pullen, Matthew, Luke, Darlette, LaBar, Derek, Christiansen, Theresa, Howard, Diondra, Biswas, Kousick, Harrington, Cristin, Garcia, Amanda, Bremer, Tammy, Burke, Tara, Koker, Brittany, Davis-Karim, Anne, Pittman, David, Vasudeva, Shikha S., Johnstone, Jaylynn R., Agnetti, Kate, Davis, Ruby, Trautner, Barbara, Hines-Munson, Casey, Van, John, Dillon, Laura, Wang, Yiqun, Nagy-Agren, Stephanie, Vasudeva, Shikha, Ochalek, Tracy, Caldwell, Erin, Humerickhouse, Edward, Boone, David, McGraw, William, Looney, David J., Mehta, Sanjay R., Johns, Scott Thompson, St. John, Melissa, Raceles, Jacqueline, Sear, Emily, Funk, Stephen, Cesarini, Rosa, Fang, Michelle, Nicalo, Keith, Drake, Wonder, Jones, Beatrice, Holtman, Teresa, Nguyen, Hien H., Maniar, Archana, Johnson, Eric A., Nguyen, Lam, Tran, Michelle T., Barrett, Thomas W., Johnston, Tera, Huggins, John T., Beiko, Tatsiana Y., Hughes, Heather Y., McManigle, William C., Tanner, Nichole T., Washburn, Ronald G., Ardelt, Magdalena, Tuohy, Patricia A., Mixson, Jennifer L., Hinton, Charles G., Thornley, Nicola, Allen, Heather, Elam, Shannon, Boatman, Barry, Baber, Brittany J., Ryant, Rudell, Roller, Brentin, Nguyen, Chinh, Mikail, Amani Morgan, Research, Marivic Hansen, Lichtenberger, Paola, Baracco, Gio, Ramos, Carol, Bjork, Lauren, Sueiro, Melyssa, Tien, Phyllis, Freasier, Heather, Buck, Theresa, Nekach, Hafida, Holodniy, Mark, Chary, Aarthi, Lu, Kan, Peters, Theresa, Lopez, Jessica, Tan, Susanna Yu, Lee, Robert H., Asghar, Aliya, Karyn Isip, Tasadduq Karim, Le, Katherine, Nguyen, Thao, Wong, Shinn, Raben, Dorthe, Murray, Daniel D., Jensen, Tomas O., Peters, Lars, Aagaard, Bitten, Nielsen, Charlotte B., Krapp, Katharina, Nykjær, Bente Rosdahl, Olsson, Christina, Kanne, Katja Lisa, Grevsen, Anne Louise, Joensen, Zillah Maria, Bruun, Tina, Bojesen, Ane, Woldbye, Frederik, Normand, Nick E., Esman, Frederik V.L., Benfield, Thomas, Clausen, Clara Lundetoft, Hovmand, Nichlas, Israelsen, Simone Bastrup, Iversen, Katrine, Leding, Caecilie, Pedersen, Karen Brorup, Thorlacius-Ussing, Louise, Tinggaard, Michaela, Tingsgard, Sandra, Krohn-Dehli, Louise, Pedersen, Dorthe, Villadsen, Signe, Staehr Jensen, Jens-Ulrik, Overgaard, Rikke, Rastoder, Ema, Heerfordt, Christian, Hedsund, Caroline, Ronn, Christian Phillip, Kamstrup, Peter Thobias, Hogsberg, Dorthe Sandbaek, Bergsoe, Christina, Søborg, Christian, Hissabu, Nuria M.S., Arp, Bodil C., Ostergaard, Lars, Staerke, Nina Breinholt, Yehdego, Yordanos, Sondergaard, Ane, Johansen, Isik S., Pedersen, Andreas Arnholdt, Knudtzen, Fredrikke C., Larsen, Lykke, Hertz, Mathias A., Fabricius, Thilde, Holden, Inge K., Lindvig, Susan O., Helleberg, Marie, Gerstoft, Jan, Kirk, Ole, Jensen, Tomas Ostergaard, Madsen, Birgitte Lindegaard, Pedersen, Thomas Ingemann, Harboe, Zitta Barrella, Roge, Birgit Thorup, Hansen, Thomas Michael, Glesner, Matilde Kanstrup, Lofberg, Sandra Valborg, Nielsen, Ariella Denize, Leicht von Huth, Sebastian, Nielsen, Henrik, Thisted, Rikke Krog, Petersen, Kristine Toft, Juhl, Maria Ruwald, Podlekareva, Daria, Johnsen, Stine, Andreassen, Helle Frost, Pedersen, Lars, Clara Ellinor Lindnér, Cecilia Ebba, Wiese, Lothar, Knudsen, Lene Surland, Skrøder Nytofte, Nikolaj Julian, Havmøller, Signe Ravn, Expósito, Maria, Badillo, José, Martínez, Ana, Abad, Elena, Chamorro, Ana, Figuerola, Ariadna, Mateu, Lourdes, España, Sergio, Lucero, Maria Constanza, Santos, José Ramón, Lladós, Gemma, Lopez, Cristina, Carabias, Lydia, Molina-Morant, Daniel, Loste, Cora, Bracke, Carmen, Siles, Adrian, Fernández-Cruz, Eduardo, Di Natale, Marisa, Padure, Sergiu, Gomez, Jimena, Ausin, Cristina, Cervilla, Eva, Balastegui, Héctor, Sainz, Carmen Rodríguez, Lopez, Paco, Carbone, Javier, Escobar, Mariam, Balerdi, Leire, Legarda, Almudena, Roldan, Montserrat, Letona, Laura, Muñoz, José, Camprubí, Daniel, Arribas, Jose R., Sánchez, Rocio Montejano, Díaz-Pollán, Beatriz, Stewart, Stefan Mark, Garcia, Irene, Borobia, Alberto, Mora-Rillo, Marta, Estrada, Vicente, Cabello, Noemi, Nuñez-Orantos, M.J., Sagastagoitia, I., Homen, J.R., Orviz, E., Montalvá, Adrián Sánchez, Espinosa-Pereiro, Juan, Bosch-Nicolau, Pau, Salvador, Fernando, Burgos, Joaquin, Morales-Rull, Jose Luis, Moreno Pena, Anna Maria, Acosta, Cristina, Solé-Felip, Cristina, Horcajada, Juan P., Sendra, Elena, Castañeda, Silvia, López-Montesinos, Inmaculada, Gómez-Junyent, Joan, Gonzáles, Carlota Gudiol, Cuervo, Guilermo, Pujol, Miquel, Carratalà, Jordi, Videla, Sebastià, Günthard, Huldrych, Braun, Dominique L., West, Emily, M’Rabeth-Bensalah, Khadija, Eichinger, Mareile L., Grüttner-Durmaz, Manuela, Grube, Christina, Zink, Veronika, pharmacist, Goes pharmacist, Josefine, Fätkenheuer, Gerd, Malin, Jakob J., Tsertsvadze, Tengiz, Abutidze, Akaki, Chkhartishvili, Nikoloz, Metchurtchlishvili, Revaz, Endeladze, Marina, Paciorek, Marcin, Bursa, Dominik, Krogulec, Dominika, Pulik, Piotr, Ignatowska, Anna, Horban, Andrzej, Bakowska, Elzbieta, Kowaska, Justyna, Bednarska, Agnieszka, Jurek, Natalia, Skrzat-Klapaczynska, Agata, Bienkowski, Carlo, Hackiewicz, Malgorzata, Makowiecki, Michal, Platowski, Antoni, Fishchuk, Roman, Kobrynska, Olena, Levandovska, Khrystyna, Kirieieva, Ivanna, Kuziuk, Mykhailo, Naucler, Pontus, Perlhamre, Emma, Mazouch, Lotta, Kelleher, Anthony, Polizzotto, Mark, Carey, Catherine, Chang, Christina C., Hough, Sally, Virachit, Sophie, Davidson, Sarah, Bice, Daniel J., Ognenovska, Katherine, Cabrera, Gesalit, Flynn, Ruth, Young, Barnaby E., Chia, Po Ying, Lee, Tau Hong, Lin, Ray J., Lye, David C., Ong, Sean W.X., Puah, Ser Hon, Yeo, Tsin Wen, Diong, Shiau Hui, Ongko, Juwinda, Yeo, He Ping, Eriobu, Nnakelu, Kwaghe, Vivian, Zaiyad, Habib, Idoko, Godwin, Uche, Blessing, Selvamuthu, Poongulali, Kumarasamy, Nagalingeswaran, Beulah, Faith Ester, Govindarajan, Narayan, Mariyappan, Kowsalya, Losso, Marcelo H., Abela, Cecilia, Moretto, Renzo, Belloc, Carlos G., Ludueña, Jael, Amar, Josefina, Toibaro, Javier, Macias, Laura Moreno, Fernandez, Lucia, Frare, Pablo S., Chaio, Sebastian R., Pachioli, Valeria, Timpano, Stella M., Sanchez, Marisa del Lujan, de Paz Sierra, Mariana, Stanek, Vanina, Belloso, Waldo, Cilenti, Flavia L., Valentini, Ricardo N., Stryjewski, Martin E., Locatelli, Nicolas, Soler Riera, Maria C., Salgado, Clara, Baeck, Ines M., Di Castelnuovo, Valentina, Zarza, Stella M., Hudson, Fleur, Parmar, Mahesh K.B., Goodman, Anna L., Dphil, Badrock, Jonathan, Gregory, Adam, Goodall, Katharine, Harris, Nicola, Wyncoll, James, Bhagani, S., Rodger, A., Luntiel, A., Patterson, C., Morales, J., Witele, E., Preston, A.-M., Nandani, A., Price, D.A., Hanrath, Aiden, Nell, Jeremy, Patel, Bijal, Hays, Carole, Jones, Geraldine, Davidson, Jade, Bawa, T., Mathews, M., Mazzella, A., Bisnauthsing, K., Aguilar-Jimenez, L., Borchini, F., Hammett, S., Touloumi, Giota, Pantazis, Nikos, Gioukari, Vicky, Souliou, Tania, Antoniadou, A., Protopapas, K., Kavatha, D., Grigoropoulou, S., Oikonomopoulo, C., Moschopoulos, C., Koulouris, N.G., Tzimopoulos, K., Koromilias, A., Argyraki, K., Lourida, P., Bakakos, P., Kalomenidis, I., Vlachakos, V., Barmparessou, Z., Balis, E., Zakynthinos, S., Sigala, I., Gianniou, N., Dima, E., Magkouta, S., Synolaki, E., Konstanta, S., Vlachou, M., Stathopoulou, P., Panagopoulos, P., Petrakis, V., Papazoglou, D., Tompaidou, E., Isaakidou, E., Poulakou, G., Rapti, V., Leontis, K., Nitsotolis, T., Athanasiou, K., Syrigos, K., Kyriakoulis, K., Trontzas, I., Arfara-Melanini, M., Kolonis, V., Kityo, Cissy, Mugerwa, Henry, Kiweewa, Francis, Kimuli, Ivan, Lukaakome, Joseph, Nsereko, Christoher, Lubega, Gloria, Kibirige, Moses, Nakahima, William, Wangi, Deus, Aguti, Evelyne, Generous, Lilian, Massa, Rosemary, Nalaki, Margaret, Magala, Felix, Nabaggala, Phiona Kaweesi, Kidega, Robert, Faith, Oryem Daizy, Florence, Apio, Emmanuel, Ocung, Beacham, Mugoonyi Paul, Geoffrey, Amone, Nakiboneka, Dridah, Apiyo, Paska, Kirenga, Bruce, Atukunda, Angella, Muttamba, Winters, Remmy, Kyeyume, Segawa, Ivan, Pheona, Nsubuga, Kigere, David, Mbabazi, Queen Lailah, Boersalino, Ledra, Nyakoolo, Grace, Fred, Aniongo, Alupo, Alice, Ebong, Doryn, Monday, Edson, Nalubwama, Ritah Norah, Kainja, Milton, Ambrose, Munu, Kwehayo, Vanon, Nalubega, Mary Grace, Ongoli, Augustine, Obbo, Stephen, Sebudde, Nicholus, Alaba, Jeniffer, Magombe, Geoffrey, Tino, Harriet, Obonya, Emmanuel, Lutaakome, Joseph, Kitonsa, Jonathan, Onyango, Martin, Naboth, Tukamwesiga, Naluyinda, Hadijah, Nanyunja, Regina, Irene, Muttiibwa, Jane, Biira, Wimfred, Kyobejja, Leonard, Ssemazzi, Deus, Tkiinomuhisha, Babra, Namasaba, Taire, Paul, Nabankema, Evelyn, Ogavu, Joseph, Mugerwa, Oscar, Okoth, Ivan, Mwebaze, Raymond, Mugabi, Timothy, Makhoba, Anthony, Arikiriza, Phiona, Theresa, Nabuuma, Nakayima, Hope, Frank, Kisuule, Ramgi, Patrícia, Pereira, Kássia, Osinusi, Anu, Cao, Huyen, Klekotka, Paul, Price, Karen, Nirula, Ajay, Osei, Suzette, Tipple, Craig, Wills, Angela, Peppercorn, Amanda, Watson, Helen, Gupta, Rajesh, Alexander, Elizabeth, Mogalian, Erik, Lin, Leo, Ding, Xiao, Margolis, David, Yan, Li, Girardet, Jean-Luc, Ma, Ji, Hong, Zhi, Zhu, Quing, Seegobin, Seth, Gibbs, Michael, Latchman, Mickel, Hasior, Katarzyna, Bouquet, Jerome, Wei, Jianxin, Streicher, Katie, Schmelzer, Albert, Brooks, Dennis, Butcher, Jonny, Tonev, Dimitar, Arbetter, Douglas, Damstetter, Philippe, Legenne, Philippe, Stumpp, Michael, Goncalves, Susana, Ramanathan, Krishnan, Chandra, Richa, Baseler, Beth, Teitelbaum, Marc, Schechner, Adam, Holley, H. Preston, Jankelevich, Shirley, Becker, Nancy, Dolney, Suzanne, Hissey, Debbie, Simpson, Shelly, Kim, Mi Ha, Beeler, Joy, Harmon, Liam, Asomah, Mabel, Jato, Yvonne, Stottlemyer, April, Tang, Olivia, Vanderpuye, Sharon, Yeon, Lindsey, Buehn, Molly, Eccard-Koons, Vanessa, Frary, Sadie, MacDonald, Leah, Cash, Jennifer, Hoopengardner, Lisa, Linton, Jessica, Schaffhauser, Marylu, Nelson, Michaela, Spinelli-Nadzam, Mary, Proffitt, Calvin, Lee, Christopher, Engel, Theresa, Fontaine, Laura, Osborne, C.K., Hohn, Matt, Galcik, Michael, Thompson, DeeDee, Kopka, Stacey, Shelley, Denise M., Mendez, Gregg, Brown, Shawn, Albert, Sara, Balde, Abby, Baracz, Michelle, Bielica, Mona, Billouin-Frazier, Shere, Choudary, Jay, Dixon, Mary, Eyler, Carolyn, Frye, Leanne, Gertz, Jensen, Giebeig, Lisa, Gulati, Neelam, Hankinson, Liz, Hogarty, Debi, Huber, Lynda, Krauss, Gary, Lake, Eileen, Manandhar, Meryan, Rudzinski, Erin, Sandrus, Jen, Suders, Connie, Natarajan, Ven, Rupert, Adam W., Baseler, Michael, Lynam, Danielle, Imamichi, Tom, Laverdure, Sylvain, McCormack, Ashley, Paudel, Sharada, Cook, Kyndal, Haupt, Kendra, Khan, Ayub, Hazen, Allison, Badralmaa, Yunden, Smith, Kenneth, Patel, Bhakti, Kubernac, Amanda, Kubernac, Robert, Hoover, Marie L., Solomon, Courtney, Rashid, Marium, Murphy, Joseph, Brown, Craig, DuChateau, Nadine, Ellis, Sadie, Flosi, Adam, Fox, Lisa, Johnson, Les, Nelson, Rich, Stojanovic, Jelena, Treagus, Amy, Wenner, Christine, Williams, Richard, Jensen, Tomas O, Murray, Thomas A, Grandits, Greg A, Jain, Mamta K, Shaw-Saliba, Kathryn, Matthay, Michael A, Baker, Jason V, Dewar, Robin L, Goodman, Anna L, Hatlen, Timothy J, Highbarger, Helene C, Lallemand, Perrine, Leshnower, Bradley G, Looney, David, Moschopoulos, Charalampos D, Murray, Daniel D, Mylonakis, Eleftherios, Rehman, M Tauseef, Rupert, Adam, Stevens, Randy, Turville, Stuart, Wick, Katherine, Lundgren, Jens, and Ko, Emily R

Published
2024
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13. Neurobehavioral Dimensions of Prader Willi Syndrome: Relationships Between Sleep and Psychosis-Risk Symptoms

Author

O'Hora, Kathleen P, Zhang, Zizhao, Vajdi, Ariana, Kushan-Wells, Leila, Huang, Zhengyi Sissi, Pacheco-Hansen, Laura, Roof, Elizabeth, Holland, Anthony, Gur, Ruben C, and Bearden, Carrie E

Subjects
Paediatrics, Biomedical and Clinical Sciences, Brain Disorders, Prevention, Congenital Structural Anomalies, Rare Diseases, Mental Health, Pediatric, Sleep Research, Neurosciences, Basic Behavioral and Social Science, Genetics, Behavioral and Social Science, Clinical Research, Aetiology, 2.3 Psychological, social and economic factors, Mental health, Prader Willi Syndrome, psychosis, sleep, genetic subtype, cognition, remote assessment, neurogenetic disorders, Clinical Sciences, Public Health and Health Services, Psychology, Clinical sciences
Abstract

BackgroundPrader Willi Syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal copies of maternally imprinted gene(s) located at 15q11-q13. While the physical and medical characteristics of PWS, including short stature, hyperphagia and endocrine dysfunction are well-characterized, systematic investigation of the long-recognized psychiatric manifestations has been recent.MethodsHere, we report on the first remote (web-based) assessment of neurobehavioral traits, including psychosis-risk symptoms (Prodromal Questionnaire-Brief Version; PQ-B) and sleep behaviors (Pittsburgh Sleep Quality Index), in a cohort of 128 participants with PWS, of whom 48% had a paternal deletion, 36% uniparental disomy, 2.4% an imprinting mutation and 13% unknown mutation (mean age 19.3 years ± 8.4; 53.9% female). We aimed to identify the most informative variables that contribute to psychosis-risk symptoms. Multiple domains of cognition (accuracy and speed) were also assessed in a subset of PWS participants (n = 39) using the Penn Computerized Neurocognitive Battery (Penn-CNB).ResultsIndividuals with PWS reported a range of psychosis-risk symptoms, with over half reporting cognitive disorganization (63.1%) and about one third reporting unusual beliefs (38.6%) and/or suspiciousness (33.3%). Subjectively-reported sleep quality, nap frequency, sleep duration, sleep disturbance, and daytime dysfunction were significant predictors of psychosis-risk symptom frequency and severity (all p's < 0.029). Sleep disturbance ratings were the strongest predictors of psychosis-risk symptoms. Regarding cognition, individuals with PWS showed the most prominent deficits in accuracy on measures of social cognition involving faces, namely Face Memory, Age Differentiation and Emotion Recognition, and greatest slowing on measures of Attention and Emotion Recognition. However, there were no significant differences in psychosis-risk symptoms or cognitive performance as a function of PWS genetic subtype.ConclusionsPWS is associated with a high prevalence of distressing psychosis-risk symptoms, which are associated with sleep disturbance. Findings indicate that self/parent-reported neurobehavioral symptoms and cognition can be assessed remotely in individuals with PWS, which has implications for future large-scale investigations of rare neurogenetic disorders.

Published
2022

14. Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

Author

Sønderby, Ida E, Ching, Christopher RK, Thomopoulos, Sophia I, van der Meer, Dennis, Sun, Daqiang, Villalon‐Reina, Julio E, Agartz, Ingrid, Amunts, Katrin, Arango, Celso, Armstrong, Nicola J, Ayesa‐Arriola, Rosa, Bakker, Geor, Bassett, Anne S, Boomsma, Dorret I, Bülow, Robin, Butcher, Nancy J, Calhoun, Vince D, Caspers, Svenja, Chow, Eva WC, Cichon, Sven, Ciufolini, Simone, Craig, Michael C, Crespo‐Facorro, Benedicto, Cunningham, Adam C, Dale, Anders M, Dazzan, Paola, de Zubicaray, Greig I, Djurovic, Srdjan, Doherty, Joanne L, Donohoe, Gary, Draganski, Bogdan, Durdle, Courtney A, Ehrlich, Stefan, Emanuel, Beverly S, Espeseth, Thomas, Fisher, Simon E, Ge, Tian, Glahn, David C, Grabe, Hans J, Gur, Raquel E, Gutman, Boris A, Haavik, Jan, Håberg, Asta K, Hansen, Laura A, Hashimoto, Ryota, Hibar, Derrek P, Holmes, Avram J, Hottenga, Jouke‐Jan, Pol, Hilleke E Hulshoff, Jalbrzikowski, Maria, Knowles, Emma EM, Kushan, Leila, Linden, David EJ, Liu, Jingyu, Lundervold, Astri J, Martin‐Brevet, Sandra, Martínez, Kenia, Mather, Karen A, Mathias, Samuel R, McDonald‐McGinn, Donna M, McRae, Allan F, Medland, Sarah E, Moberget, Torgeir, Modenato, Claudia, Sánchez, Jennifer Monereo, Moreau, Clara A, Mühleisen, Thomas W, Paus, Tomas, Pausova, Zdenka, Prieto, Carlos, Ragothaman, Anjanibhargavi, Reinbold, Céline S, Marques, Tiago Reis, Repetto, Gabriela M, Reymond, Alexandre, Roalf, David R, Rodriguez‐Herreros, Borja, Rucker, James J, Sachdev, Perminder S, Schmitt, James E, Schofield, Peter R, Silva, Ana I, Stefansson, Hreinn, Stein, Dan J, Tamnes, Christian K, Tordesillas‐Gutiérrez, Diana, Ulfarsson, Magnus O, Vajdi, Ariana, van 't Ent, Dennis, van den Bree, Marianne BM, Vassos, Evangelos, Vázquez‐Bourgon, Javier, Vila‐Rodriguez, Fidel, Walters, G Bragi, Wen, Wei, Westlye, Lars T, Wittfeld, Katharina, Zackai, Elaine H, Stefánsson, Kári, and Jacquemont, Sebastien

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Mental Health, Clinical Research, Pediatric, Genetics, Basic Behavioral and Social Science, Human Genome, Prevention, Brain Disorders, Behavioral and Social Science, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Brain, DNA Copy Number Variations, Humans, Magnetic Resonance Imaging, Mental Disorders, Multicenter Studies as Topic, Neurodevelopmental Disorders, Neuroimaging, brain structural imaging, copy number variant, diffusion tensor imaging, evolution, genetics-first approach, neurodevelopmental disorders, psychiatric disorders, ENIGMA-CNV Working Group, ENIGMA 22q11.2 Deletion Syndrome Working Group, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology
Abstract

The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest-ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi-site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene-dosage effects on distinct brain regions also emerged, providing further insight into genotype-phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This "genotype-first" approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.

Published
2022

16. Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics

Author

Forsyth, Jennifer K, Mennigen, Eva, Lin, Amy, Sun, Daqiang, Vajdi, Ariana, Kushan-Wells, Leila, Ching, Christopher RK, Villalon-Reina, Julio E, Thompson, Paul M, Jonas, Rachel K, Pacheco-Hansen, Laura, Bakker, Geor, van Amelsvoort, Therese, Antshel, Kevin M, Fremont, Wanda, Kates, Wendy R, Campbell, Linda E, McCabe, Kathryn L, Craig, Michael C, Daly, Eileen, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan G, Murphy, Kieran C, Fiksinski, Ania, Koops, Sanne, Vorstman, Jacob, Crowley, T Blaine, Emanuel, Beverly S, Gur, Raquel E, McDonald-McGinn, Donna M, Roalf, David R, Ruparel, Kosha, Schmitt, J Eric, Zackai, Elaine H, Durdle, Courtney A, Goodrich-Hunsaker, Naomi J, Simon, Tony J, Bassett, Anne S, Butcher, Nancy J, Chow, Eva WC, Vila-Rodriguez, Fidel, Cunningham, Adam, Doherty, Joanne L, Linden, David E, Moss, Hayley, Owen, Michael J, van den Bree, Marianne, Crossley, Nicolas A, Repetto, Gabriela M, and Bearden, Carrie E

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Research, Genetics, Pediatric, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, 22q11 Deletion Syndrome, Brain Cortical Thickness, Case-Control Studies, Cerebral Cortex, DNA Copy Number Variations, Gene Expression Profiling, Gene Expression Regulation, Developmental, Haploinsufficiency, Humans, Magnetic Resonance Imaging, MicroRNAs, Mitochondrial Proteins, RNA-Binding Proteins, Receptors, Purinergic P2, copy number variant, cortical thickness, DGCR8, gene expression, surface area, 22q11.2 ENIGMA Consortium, Psychology, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology
Abstract

22q11.2 deletion syndrome (22q11DS) results from a hemizygous deletion that typically spans 46 protein-coding genes and is associated with widespread alterations in brain morphology. The specific genetic mechanisms underlying these alterations remain unclear. In the 22q11.2 ENIGMA Working Group, we characterized cortical alterations in individuals with 22q11DS (n = 232) versus healthy individuals (n = 290) and conducted spatial convergence analyses using gene expression data from the Allen Human Brain Atlas to prioritize individual genes that may contribute to altered surface area (SA) and cortical thickness (CT) in 22q11DS. Total SA was reduced in 22q11DS (Z-score deviance = -1.04), with prominent reductions in midline posterior and lateral association regions. Mean CT was thicker in 22q11DS (Z-score deviance = +0.64), with focal thinning in a subset of regions. Regional expression of DGCR8 was robustly associated with regional severity of SA deviance in 22q11DS; AIFM3 was also associated with SA deviance. Conversely, P2RX6 was associated with CT deviance. Exploratory analysis of gene targets of microRNAs previously identified as down-regulated due to DGCR8 deficiency suggested that DGCR8 haploinsufficiency may contribute to altered corticogenesis in 22q11DS by disrupting cell cycle modulation. These findings demonstrate the utility of combining neuroanatomic and transcriptomic datasets to derive molecular insights into complex, multigene copy number variants.

Published
2021

20. Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study

Author

Villalón-Reina, Julio E, Martínez, Kenia, Qu, Xiaoping, Ching, Christopher RK, Nir, Talia M, Kothapalli, Deydeep, Corbin, Conor, Sun, Daqiang, Lin, Amy, Forsyth, Jennifer K, Kushan, Leila, Vajdi, Ariana, Jalbrzikowski, Maria, Hansen, Laura, Jonas, Rachel K, van Amelsvoort, Therese, Bakker, Geor, Kates, Wendy R, Antshel, Kevin M, Fremont, Wanda, Campbell, Linda E, McCabe, Kathryn L, Daly, Eileen, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan, Craig, Michael, Emanuel, Beverly, McDonald-McGinn, Donna M, Vorstman, Jacob AS, Fiksinski, Ania M, Koops, Sanne, Ruparel, Kosha, Roalf, David, Gur, Raquel E, Eric Schmitt, J, Simon, Tony J, Goodrich-Hunsaker, Naomi J, Durdle, Courtney A, Doherty, Joanne L, Cunningham, Adam C, van den Bree, Marianne, Linden, David EJ, Owen, Michael, Moss, Hayley, Kelly, Sinead, Donohoe, Gary, Murphy, Kieran C, Arango, Celso, Jahanshad, Neda, Thompson, Paul M, and Bearden, Carrie E

Subjects
Paediatrics, Biomedical and Clinical Sciences, Neurosciences, Pediatric, Biomedical Imaging, Mental Health, Clinical Research, Brain Disorders, Mental health, Adolescent, Adult, Anisotropy, Child, DiGeorge Syndrome, Diffusion Magnetic Resonance Imaging, Female, Humans, Male, Middle Aged, White Matter, Young Adult, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

22q11.2 deletion syndrome (22q11DS)-a neurodevelopmental condition caused by a hemizygous deletion on chromosome 22-is associated with an elevated risk of psychosis and other developmental brain disorders. Prior single-site diffusion magnetic resonance imaging (dMRI) studies have reported altered white matter (WM) microstructure in 22q11DS, but small samples and variable methods have led to contradictory results. Here we present the largest study ever conducted of dMRI-derived measures of WM microstructure in 22q11DS (334 22q11.2 deletion carriers and 260 healthy age- and sex-matched controls; age range 6-52 years). Using harmonization protocols developed by the ENIGMA-DTI working group, we identified widespread reductions in mean, axial and radial diffusivities in 22q11DS, most pronounced in regions with major cortico-cortical and cortico-thalamic fibers: the corona radiata, corpus callosum, superior longitudinal fasciculus, posterior thalamic radiations, and sagittal stratum (Cohen's d's ranging from -0.9 to -1.3). Only the posterior limb of the internal capsule (IC), comprised primarily of corticofugal fibers, showed higher axial diffusivity in 22q11DS. 22q11DS patients showed higher mean fractional anisotropy (FA) in callosal and projection fibers (IC and corona radiata) relative to controls, but lower FA than controls in regions with predominantly association fibers. Psychotic illness in 22q11DS was associated with more substantial diffusivity reductions in multiple regions. Overall, these findings indicate large effects of the 22q11.2 deletion on WM microstructure, especially in major cortico-cortical connections. Taken together with findings from animal models, this pattern of abnormalities may reflect disrupted neurogenesis of projection neurons in outer cortical layers.

Published
2020

21. Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size

Author

Sun, Daqiang, Ching, Christopher RK, Lin, Amy, Forsyth, Jennifer K, Kushan, Leila, Vajdi, Ariana, Jalbrzikowski, Maria, Hansen, Laura, Villalon-Reina, Julio E, Qu, Xiaoping, Jonas, Rachel K, van Amelsvoort, Therese, Bakker, Geor, Kates, Wendy R, Antshel, Kevin M, Fremont, Wanda, Campbell, Linda E, McCabe, Kathryn L, Daly, Eileen, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan, Craig, Michael, Vorstman, Jacob, Fiksinski, Ania, Koops, Sanne, Ruparel, Kosha, Roalf, David R, Gur, Raquel E, Schmitt, J Eric, Simon, Tony J, Goodrich-Hunsaker, Naomi J, Durdle, Courtney A, Bassett, Anne S, Chow, Eva WC, Butcher, Nancy J, Vila-Rodriguez, Fidel, Doherty, Joanne, Cunningham, Adam, van den Bree, Marianne BM, Linden, David EJ, Moss, Hayley, Owen, Michael J, Murphy, Kieran C, McDonald-McGinn, Donna M, Emanuel, Beverly, van Erp, Theo GM, Turner, Jessica A, Thompson, Paul M, and Bearden, Carrie E

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Pediatric, Serious Mental Illness, Clinical Research, Mental Health, Schizophrenia, Brain Disorders, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Adult, Cerebral Cortex, Chromosome Deletion, DiGeorge Syndrome, Female, Gray Matter, Humans, Magnetic Resonance Imaging, Male, Psychotic Disorders, Young Adult, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) 22q11.2 Working Group, representing the largest analysis of brain structural alterations in 22q11DS to date. The imaging data were collected from 10 centers worldwide, including 474 subjects with 22q11DS (age = 18.2 ± 8.6; 46.9% female) and 315 typically developing, matched controls (age = 18.0 ± 9.2; 45.9% female). Compared to controls, 22q11DS individuals showed thicker cortical gray matter overall (left/right hemispheres: Cohen's d = 0.61/0.65), but focal thickness reduction in temporal and cingulate cortex. Cortical surface area (SA), however, showed pervasive reductions in 22q11DS (left/right hemispheres: d = -1.01/-1.02). 22q11DS cases vs. controls were classified with 93.8% accuracy based on these neuroanatomic patterns. Comparison of 22q11DS-psychosis to idiopathic schizophrenia (ENIGMA-Schizophrenia Working Group) revealed significant convergence of affected brain regions, particularly in fronto-temporal cortex. Finally, cortical SA was significantly greater in 22q11DS cases with smaller 1.5 Mb deletions, relative to those with typical 3 Mb deletions. We found a robust neuroanatomic signature of 22q11DS, and the first evidence that deletion size impacts brain structure. Psychotic illness in this highly penetrant deletion was associated with similar neuroanatomic abnormalities to idiopathic schizophrenia. These consistent cross-site findings highlight the homogeneity of this single genetic etiology, and support the suitability of 22q11DS as a biological model of schizophrenia.

Published
2020

22. Reciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder

Author

Lin, Amy, Vajdi, Ariana, Kushan-Wells, Leila, Helleman, Gerhard, Hansen, Laura Pacheco, Jonas, Rachel K, Jalbrzikowski, Maria, Kingsbury, Lyle, Raznahan, Armin, and Bearden, Carrie E

Subjects
Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Brain Disorders, Neurosciences, Mental Health, Prevention, Clinical Research, Pediatric, Autism, Behavioral and Social Science, Schizophrenia, Intellectual and Developmental Disabilities (IDD), 2.3 Psychological, social and economic factors, 2.1 Biological and endogenous factors, Aetiology, Mental health, Autism Spectrum Disorder, DNA Copy Number Variations, DiGeorge Syndrome, Humans, Psychotic Disorders, Autism spectrum disorder, CNV, Cognition, Social behavior, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biological sciences, Biomedical and clinical sciences
Abstract

Background22q11.2 deletions and duplications are copy number variations (CNVs) that predispose to developmental neuropsychiatric disorders. Both CNVs are associated with autism spectrum disorder (ASD), while the deletion confers disproportionate risk for schizophrenia. Neurobehavioral profiles associated with these reciprocal CNVs in conjunction with brain imaging measures have not been reported.MethodsWe profiled the impact of 22q11.2 CNVs on neurobehavioral measures relevant to ASD and psychosis in 106 22q11.2 deletion carriers, 38 22q11.2 duplication carriers, and 82 demographically matched healthy control subjects. To determine whether brain-behavior relationships were altered in CNV carriers, we further tested for interactions between group and regional brain structure on neurobehavioral domains.ResultsCognitive deficits were observed in both CNV groups, with the lowest IQs in deletion carriers. ASD and dimensionally measured ASD traits were elevated in both CNV groups; however, duplication carriers exhibited increased stereotypies compared to deletion carriers. Moreover, discriminant analysis using ASD subdomains distinguished between CNV cases with 76% accuracy. Both psychotic disorder diagnosis and dimensionally measured positive and negative symptoms were elevated in deletion carriers. Finally, healthy control subjects showed an inverse relationship between processing speed and cortical thickness in heteromodal association areas, which was absent in both CNV groups.Conclusions22q11.2 CNVs differentially modulate intellectual functioning and psychosis-related symptomatology but converge on broad ASD-related symptomatology. However, subtle differences in ASD profiles distinguish CNV groups. Processing speed impairments, coupled with the lack of normative relationship between processing speed and cortical thickness in CNV carriers, implicate aberrant development of the cortical mantle in the pathology underlying impaired processing speed ability.

Published
2020

23. Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness

Author

Ching, Christopher RK, Gutman, Boris A, Sun, Daqiang, Villalon Reina, Julio, Ragothaman, Anjanibhargavi, Isaev, Dmitry, Zavaliangos-Petropulu, Artemis, Lin, Amy, Jonas, Rachel K, Kushan, Leila, Pacheco-Hansen, Laura, Vajdi, Ariana, Forsyth, Jennifer K, Jalbrzikowski, Maria, Bakker, Geor, van Amelsvoort, Therese, Antshel, Kevin M, Fremont, Wanda, Kates, Wendy R, Campbell, Linda E, McCabe, Kathryn L, Craig, Michael C, Daly, Eileen, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan G, Murphy, Kieran C, Fiksinski, Ania, Koops, Sanne, Vorstman, Jacob, Crowley, T Blaine, Emanuel, Beverly S, Gur, Raquel E, McDonald-McGinn, Donna M, Roalf, David R, Ruparel, Kosha, Schmitt, J Eric, Zackai, Elaine H, Durdle, Courtney A, Goodrich-Hunsaker, Naomi J, Simon, Tony J, Bassett, Anne S, Butcher, Nancy J, Chow, Eva WC, Vila-Rodriguez, Fidel, Cunningham, Adam, Doherty, Joanne, Linden, David E, Moss, Hayley, Owen, Michael J, van den Bree, Marianne, Crossley, Nicolas A, Repetto, Gabriela M, Thompson, Paul M, and Bearden, Carrie E

Subjects
Clinical Research, Serious Mental Illness, Brain Disorders, Mental Health, Schizophrenia, Clinical Trials and Supportive Activities, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Atrophy, Brain, Brain Mapping, Case-Control Studies, Child, DiGeorge Syndrome, Female, Humans, Hypertrophy, Magnetic Resonance Imaging, Male, Mental Disorders, Middle Aged, Psychotic Disorders, Young Adult, 22q11.2 Deletion Syndrome, Copy Number Variant, Neuroanatomy, Neurodevelopment, Psychosis, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

Objective22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in 22q11DS. To better characterize subcortical alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the authors studied a large multicenter neuroimaging cohort from the ENIGMA 22q11.2 Deletion Syndrome Working Group.MethodsSubcortical structures were measured using harmonized protocols for gross volume and subcortical shape morphometry in 533 individuals with 22q11DS and 330 matched healthy control subjects (age range, 6-56 years; 49% female).ResultsCompared with the control group, the 22q11DS group showed lower intracranial volume (ICV) and thalamus, putamen, hippocampus, and amygdala volumes and greater lateral ventricle, caudate, and accumbens volumes (Cohen's d values, -0.90 to 0.93). Shape analysis revealed complex differences in the 22q11DS group across all structures. The larger A-D deletion was associated with more extensive shape alterations compared with the smaller A-B deletion. Participants with 22q11DS with psychosis showed lower ICV and hippocampus, amygdala, and thalamus volumes (Cohen's d values, -0.91 to 0.53) compared with participants with 22q11DS without psychosis. Shape analysis revealed lower thickness and surface area across subregions of these structures. Compared with subcortical findings from other neuropsychiatric disorders studied by the ENIGMA consortium, significant convergence was observed between participants with 22q11DS with psychosis and participants with schizophrenia, bipolar disorder, major depressive disorder, and obsessive-compulsive disorder.ConclusionsIn the largest neuroimaging study of 22q11DS to date, the authors found widespread alterations to subcortical brain structures, which were affected by deletion size and psychotic illness. Findings indicate significant overlap between 22q11DS-associated psychosis, idiopathic schizophrenia, and other severe neuropsychiatric illnesses.

Published
2020

36. Introduction

Author

Hansen, Laura K., primary, Ellis, Brandi M., additional, and Smith, Stephanie D., additional

Published
2022
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38. Efficacy and safety of two neutralising monoclonal antibody therapies, sotrovimab and BRII-196 plus BRII-198, for adults hospitalised with COVID-19 (TICO): a randomised controlled trial

Author

Self, Wesley H., Sandkovsky, Uriel, Reilly, Cavan S., Vock, David M., Gottlieb, Robert L., Mack, Michael, Golden, Kevin, Dishner, Emma, Vekstein, Andrew, Ko, Emily R., Der, Tatyana, Franzone, John, Almasri, Eyad, Fayed, Mohamed, Filbin, Michael R., Hibbert, Kathryn A., Rice, Todd W., Casey, Jonathan D., Hayanga, J. Awori, Badhwar, Vinay, Leshnower, Bradley G., Sharifpour, Milad, Knowlton, Kirk U., Peltan, Ithan D., Bakowska, Elizieta, Kowalska, Justyna, Bowdish, Michael E., Sturek, Jeffrey M., Rogers, Angela J., Files, D. Clark, Mosier, Jarrod M., Gong, Michelle N., Douin, David J., Hite, R. Duncan, Trautner, Barbara W., Jain, Mamta K., Gardner, Edward M., Khan, Akram, Jensen, Jens-Ulrik, Matthay, Michael A., Ginde, Adit A., Brown, Samuel M., Higgs, Elizabeth S., Pett, Sarah, Weintrob, Amy C., Chang, Christina C., Murrary, Daniel D., Günthard, Huldrych F., Moquete, Ellen, Grandits, Greg, Engen, Nicole, Grund, Birgit, Sharma, Shweta, Cao, Huyen, Gupta, Rajesh, Osei, Suzette, Margolis, David, Zhu, Qing, Polizzotto, Mark N., Babiker, Abdel G., Davey, Victoria J., Kan, Virginia, Thompson, B. Taylor, Gelijns, Annetine C., Neaton, James D., Lane, H. Clifford, Jundgren, Jens D., Tierney, John, Barrett, Kevin, Herpin, Betsey R., Smolskis, Mary C., Voge, Susan E., McNay, Laura A., Cahill, Kelly, Crew, Page, Kirchoff, Matthew, Sardana, Ratna, Raim, Sharon Segal, Chiu, Joseph, Hensley, Lisa, Lorenzo, Josua, Mock, Rebecca, Shaw-Saliba, Katy, Zuckerman, Judith, Adam, Stacey J., Currier, Judy, Read, Sarah, Hughes, Eric, Amos, Laura, Carlsen, Amy, Carter, Anita, Davis, Bionca, Denning, Eileen, DuChene, Alain, Harrison, Merrie, Kaiser, Payton, Koopmeiners, Joseph, Meger, Sue, Murray, Thomas, Quan, Kien, Quan, Siu Fun, Thompson, Greg, Walski, Jamie, Wentworth, Deborah, Moskowitz, Alan J., Bagiella, Emilia, O'Sullivan, Karen, Marks, Mary E., Accardi, Evan, Kinzel, Emily, Bedoya, Gabriela, Gupta, Lopa, Overbey, Jessica R., Padillia, Maria L., Santos, Milerva, Gillinov, Marc A., Miller, Marissa A., Taddei-Peters, Wendy C., Fenton, Kathleen, Berhe, Mezgebe, Haley, Clinton, Bettacchi, Christopher, Duhaime, Erin, Ryan, Madison, Burris, Sarah, Jones, Felecia, Villa, Samantha, Want, Samantha, Robert, Raven, Coleman, Tanquinisha, Clariday, Laura, Baker, Rebecca, Hurutado-Rodriguez, Marian, Iram, Nazia, Fresnedo, Michelle, Davis, Allyson, Leonard, Kiara, Ramierez, Noelia, Thammavong, Jon, Duque, Krizia, Turner, Emma, Fisher, Tammy, Robinson, Dianna, Ransom, Desirae, Lusk, Erica, Killian, Aaron, Palacious, Adriana, Solis, Edilia, Jerrow, Janet, Watts, Matthew, Whitacre, Heather, Cothran, Elizabeth, Smith, Peter K., Barkauskas, Christina E., Dreyer, Grace R., Witte, Marie, Mosaly, Nilima, Mourad, Ahmad, Holland, Thomas L., Lane, Kathleen, Bouffler, Andrew, McGowan, Lauren M., Motta, Marry, Tipton, Gregory, Stallings, Ben, Stout, Gennifer, McLendon-Arvik, Beth, Hollister, Beth A., Giangiacomo, Dana M., Sharma, Sunil, Pappers, Brian, McCarthy, Paul, Krupica, Troy, Sarwari, Arif, Reece, Rebecca, Fornaresio, Lisa, Glaze, Chad, Evans, Raquel, Preamble, Katarina, Sutton, Lisa Giblin, Buterbaugh, Sabrina, Bartolo, Elizabeth Berry, Williams, Roger, Bunner, Robin, Bender, William, Miller, Jeffrey, Baio, Kim T., McBride, Mary K., Fielding, Michele, Mathewson, Sonya, Porte, Kristina, Maton, Missy, Ponder, Chari, Haley, Elizabeth, Spainhour, Christine, Rogers, Susan, Tyler, Derrick, Wald-Dickler, Noah, Hutcheon, Douglass, Towfighi, Amytis, Lee, May M., Lewis, Meghan R., Spellberg, Brad, Sher, Linda, Sharma, Aniket, Olds, Anna P., Justino, Chris, Lozano, Edward, Romero, Chris, Leong, Janet, Rodina, Valentina, Possemato, Tammie, Escobar, Jose, Chiu, Charlene, Weissman, Kevin, Barros, Andrew, Enfield, Kyle B., Kadl, Alexandra, Green, China J., Simon, Rachel M., Fox, Ashley, Thornton, Kara, Parrino, Patrick E., Spindel, Stephen, Bansal, Aditya, Baumgarten, Katherine, Hand, Jonathan, Vonderhaar, Derek, Nossaman, Bobby, Laudun, Sylvia, Ames, DeAnna, Broussard, Shane, Hernandez, Nilmo, Isaac, Geralyn, Dinh, Huan, Zheng, Yiling, Tran, Sonny, McDaniel, Hunter, Crovetto, Nicolle, Miller, Leslie, Schelle, Beth, McLean, Sherry, Rothbaum, Howard R., Alvarez, Michael S., Kalan, Shivam P., Germann, Heather H., Hendershot, Jennifer, Maroney, Karen, Herring, Karen, Cook, Sharri, Paul, Pam, Madathil, Ronson J., Rabin, Joseph, Levine, Andrea, Saharia, Kapil, Tabatabai, Ali, Lau, Christine, Gammie, James S., Peguero, Maya-Loren, McKernan, Kimberley, Audette, Matthew, Fleischmann, Emily, Akbari, Freshta, Lee, Maia, Lee, Myounghee, Chi, Andrew, Salehi, Hanna, Pariser, Alan, Nguyen, Phuong Tran, Moore, Jessica, Gee, Adrienne, Vincent, Shelika, Zuckerman, Richard A., Iribarne, Alexander, Metzler, Sara, Shipman, Samantha, Caccia, Taylor, Johnson, Haley, Newton, Crystallee, Parr, Doug, Rodriguez, Vicente, Bokhart, Gordon, Eichman, Sharon M., North, Crystal, Oldmixon, Cathryn, Ringwood, Nancy, Fitzgerald, Laura, Morin, Haley D., Muzikansky, Ariela, Morse, Richard, Brower, Roy G., Reineck, Lora A., Aggarwal, Neil R., Bienstock, Karen, Hou, Peter, Steingrub, Jay, Tidswell, Mark A., Kozikowski, Lori-Ann, Kardos, Cynthia, DeSouza, Leslie, Thornton-Thompson, Sherell, Talmor, Daniel, Shapiro, Nathan, Banner-Goodspeed, Valerie, Boyle, Katherine L., Hayes, Sharon, Jones, Alan E., Galbraith, James, Nandi, Utsav, Peacock, Rebekah K., Parry, Blair Alden, Margolin, Justin D., Brait, Kelsey, Beakes, Caroline, Kangelaris, Kirsten N., Yee, Kimberly J., Ashktorab, Kimia, Jauregui, Alejandra E., Zhuo, Hanjing, Hendey, Gregory, Hubel, Kinsley A., Hughes, Alyssa R., Garcia, Rebekah L., Wilson, Jennifer G., Vojnik, Rosemary, Roque, Jonasel, Perez, Cynthia, Lim, George W., Chang, Steven Y., Beutler, Rebecca, Agarwal, Trisha, Vargas, Julia, Moss, Marc, Baduashvili, Amiran, Chauhan, Lakshmi, Finck, Lani L., Howell, Michelle, Hyzy, Robert C., Park, Pauline K., Nelson, Kristine, McSparron, Jake I., Co, Ivan N., Wang, Bonnie R., Jia, Shijing, Sullins, Barbara, Hanna, Sinan, Olbrich, Norman, Richardson, Lynne D., Nair, Rahul, Offor, Obiageli, Lopez, Brenda, Amosu, Omowunmi, Tzehaie, Hiwet, Terndrup, Thomas E., Wiedemann, Herbert P., Duggal, Abhijit, Thiruchelvam, Nirosshan, Ashok, Kiran, King, Alexander H., Mehkri, Omar, Hudock, Kristin, Kiran, Simra, More, Harshada, Roads, Tammy, Martinkovic, Jamie, Kennedy, Sarah, Robinson, Bryce H., Hough, Catherine L., Krol, Olivia F., Kinjal, Mistry, Mills, Emmanuel, McDougal, Madeline, Deshmukh, Rupali, Chen, Peter, Torbati, Sam S., Matusov, Yuri, Choe, June, Hindoyan, Niree A., Jackman, Susan E., Bayoumi, Emad, Wynter, Timothy, Caudill, Antonina, Pascual, Ethan, Clapham, Gregg J., Herrera, Lisa, Ojukwu, Cristabelle, Mehdikhani, Shaunt, O'Mahony, D. Shane, Nyatsatsang, Sonam T., Wilson, David M., Wallick, Julie A., Miller, Chadwick, Gibbs, Keven W., Flores, Lori S., LaRose, Mary E., Landreth, Leigha D., Morris, Peter E., Sturgill, Jamie L., Cassity, Evan P., Dhar, Sanjay, Montgomery-Yates, Ashley A., Pasha, Sara N., Mayer, Kirby P., Bissel, Brittany, Bledsoe, Joseph, Brown, Samuel, Lanspa, Michael, Leither, Lindsey, Armbruster, Brent P., Montgomery, Quinn, Applegate, Darrin, Kumar, Naresh, Fergus, Melissa, Serezlic, Erna, Imel, Karah, Palmer, Ghazal, Webb, Brandon, Aston, Valerie T., Johnson, Jakea, Gray, Christopher, Hays, Margaret, Roth, Megan, Sánchez, Adriana, Popielski, Laura, Rivasplata, Heather, Turner, Melissa, Vjecha, Michael, Petersen, Tianna, Kamel, Dena, Hansen, Laura, Lucas, Claudia Sanchez, DellaValle, Natalie, Gonzales, Sonia, Scott, James, Wyles, David, Douglas, Ivor, Haukoos, Jason, Kamis, Kevin, Robinson, Caitlin, Baker, Jason V., Frosch, Anne, Goldsmith, Rachael, Jibrell, Hodan, Lo, Melanie, Klaphake, Jonathan, Mackedanz, Shari, Ngo, Linh, Garcia-Myers, Kelly, Markowitz, Norman, Pastor, Erika, Ramesh, Mayur, Brar, Indira, Rivers, Emanuel, Kumar, Princy, Menna, Maximiliano, Biswas, Kousick, Harrington, Cristin, Delp, Alex, Pandit, Lavannya, Hines-Munson, Casey, Van, John, Dillon, Laura, Want, Yiqun, Lichtenberger, Paola, Baracco, Gio, Ramos, Carol, Bjork, Lauren, Sueiro, Melyssa, Tien, Phyllis, Freasier, Heather, Buck, Theresa, Nekach, Hafida, Nagy-Agren, Stephanie, Vasudeva, Shikha, Ochalek, Tracy, Roller, Brentin, Nguyen, Chinh, Mikail, Amani, Raben, Dorthe, Jensen, Tomas O., Aagaard, Bitten, Nielsen, Charlotte B., Krapp, Katharina, Nykjær, Bente Rosdahl, Kanne, Katja Lisa, Grevsen, Anne Louise, Joensen, Zillah Maria, Bruun, Tina, Bojesen, Ane, Woldbye, Frederik, Normand, Nick E., Esmann, Frederik V.L., Clausen, Clara Lundetoft, Hovmand, Nichlas, Pedersen, Karen Brorup, Thorlacius-Ussing, Louise, Tinggaard, Michaela, Høgsberg, Dorthe S., Rastoder, Ema, Kamstrup, Thobias, Bergsøe, Christina Marisa, Østergaard, Lars, Stærke, Nina Breinholt, Johansen, Isik S., Knudtzen, Fredrikke C., Larsen, Lykke, Hertz, Mathias A., Fabricius, Thilde, Helleberg, Marie, Gerstoft, Jan, Jensen, Tomas Østergaard, Lindegaard, Birgitte, Pedersen, Thomas Ingemann, Røge, Birgit Thorup, Løfberg, Sandra Valborg, Hansen, Thomas Michael, Nielsen, Ariella Denize, von Huth, Sebastian Leicht, Nielsen, Henrik, Thisted, Rikke Krog, Podlekareva, Daria, Johnsen, Stine, Andreassen, Helle Frost, Pedersen, Lars, Lindnér, Cecilia Ebba Clara Ellinor, Wiese, Lothar, Knudsen, Lene Surland, Nytofte, Nikolaj Julian Skrøder, Havmøller, Signe Ravn, Paredes, Roger, Exposito, Maria, Fernández-Cruz, Eduardo, Muñoz, José, Arribas, Jose R., Estrada, Vicente, Horcajada, Juan P., Burgos, Joaquin, Morales-Rull, Jose Luis, Braun, Dominique L., West, Emily, M'Rabeth-Bensalah, Khadija, Eichinger, Mareile L., Grüttner-Durmaz, Manuela, Grube, Christina, Zink, Veronika, Horban, Andrzej, Bednarska, Agnieszka, Jurek, Natalia, Fätkenheuer, Gerd, Malinm, Jakob J., Matthews, Gail, Kelleher, Anthony, Cabrera, Gesalit, Carey, Catherine, Hough, Sally, Virachit, Sophie, Zhong, Amy, Young, Barnaby E., Chia, Po Ying, Lee, Tau Hong, Lin, Ray J., Lye, David, Ong, Sean, Puah, Ser Hon, Yeo, Tsin Wen, Diong, Shiau Hui, Ongko, Juwinda, Hudson, Fleur, Parmar, Mahesh KB, Goodman, Anna, Badrock, Jonathan, Gregory, Adam, Harris, Nicola, Touloumi, Giota, Pantaz, Nikos, Gioukari, Vicky, Lutaakome, Joseph, Kityo, Cissy M., Mugerwa, Henry, Kiweewa, Francis, Osinusi, Anu, Tipple, Craig, Willis, Angela, Peppercorn, Amanda, Watson, Helen, Alexander, Elizabeth, Mogalian, Erik, Lin, Leo, Ding, Xiao, Yan, Li, Girardet, Jean-Luc, Ma, Ji, Hong, Zhi, Adams, Amy, Albert, Sara, Balde, Abby, Baracz, Michelle, Baseler, Beth, Becker, Nancy, Bielica, Mona, Billouin-Frazier, Shere, Cash, Jennifer, Choudhary, Jay, Dolney, Suzanne, Dixon, Mary, Eyler, Carolyn, Frye, Leanna, Galcik, Michael, Gertz, Jensen, Giebeig, Lisa, Gulati, Neelam, Hankinson, Liz, Hissey, Debbie, Hogarty, Debi, Hohn, Matt, Holley, H Preston, Hoopengardner, Lisa, Huber, Lynda, Jankelevich, Shirley, Krauss, Gary, Lake, Eileen, Linton, Jessica, MacDonald, Leah, Manandhar, Meryan, Spinelli-Nadzam, Mary, Oluremi, Charles, Proffitt, Calvin, Rudzinski, Erin, Sandrus, Jen, Schaffhauser, Marylu, Schechner, Adam, Suders, Connie, Gerry, Norman P., Smith, Kenneth, Solomon, Courtney, Kubernac, Amanda, Rashid, Marium, Patel, Bhakti, Kubernac, Robert, Murphy, Joseph, Hoover, Marie L., Brown, Craig, DuChateau, Nadine, Flosi, Adam, Johnson, Les, Treagus, Amy, and Wenner, Christine

Published
2022
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40. Genotype‐by‐environment interactions for mean performance and trait variation in house fly larvae reared on two diets.

Author

Laursen, Stine Frey, Hansen, Laura Skrubbeltrang, Bahrndorff, Simon, Nielsen, Hanne Marie, Sahana, Goutam, Sørensen, Jesper Givskov, Ørsted, Michael, and Kristensen, Torsten Nygaard

Subjects
*HOUSEFLY, *EDIBLE insects, *INSECT food, *PHENOTYPIC plasticity, *GENETIC variation, *ALFALFA
Abstract

Some insect species have been proposed as a sustainable alternative to traditional animal‐based food and feed sources. Optimisation of insect production can generally be achieved using two main approaches: optimising environmental conditions and improving traits of interest through selective breeding. These avenues are not inseparable as performance of a genotype might differ between environments due to phenotypic plasticity and because genotypes can respond differently to environmental changes, that is genotype‐by‐environment interactions (G × E). In insect production, diets can be of variable quality and consist of waste‐ and by‐products of low nutritional value, which might result in decreased performance and/or increased trait variability within a population. Therefore, it is of interest to investigate how genotypes perform across various diets. Here, we investigated plasticity and G × E for mean performance and trait variation, which we define as the ability of a genotype to produce consistent phenotypes within and across environments. We did this by rearing 190 full‐sib families of house fly larvae, Musca domestica L. (Diptera: Muscidae), on two diets based on either alfalfa, Medicago sativa L. (Fabales: Fabaceae), or deproteinated grass. Four larval traits were assessed: egg‐to‐larva viability, surface area, dry weight and relative lipid content. Reaction norms were used to investigate the effects of diet on full‐sib family mean and trait variation within and across environments. We found that families reared on the grass‐based diet had higher performance across all investigated traits than families reared on the alfalfa‐based diet. For both mean performance and trait variation, we found G × E for all investigated traits. These findings suggest that there is genetic variation for plasticity (slope of reaction norms) for both trait mean and trait variation, and thus that there is a potential to breed for genotypes with high performance as well as for genotypes with low trait variation within and across diets. [ABSTRACT FROM AUTHOR]

Published
2024
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43. Internalizing Behaviors

Author

Hansen, Laura K., Jordan, Sara S., Green, Bradley A., Section editor, Zeigler-Hill, Virgil, editor, and Shackelford, Todd K., editor

Published
2020
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44. Watson, John

Author

Hansen, Laura K., Jordan, Sara S., McLean, Alicia Lyon-Limke, Section editor, Zeigler-Hill, Virgil, editor, and Shackelford, Todd K., editor

Published
2020
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45. Behavior Modification

Author

Hansen, Laura K., Green, Bradley A., Section Editor, Zeigler-Hill, Virgil, editor, and Shackelford, Todd K., editor

Published
2020
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46. Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry

Author

Lin, Amy, Ching, Christopher RK, Vajdi, Ariana, Sun, Daqiang, Jonas, Rachel K, Jalbrzikowski, Maria, Kushan-Wells, Leila, Hansen, Laura Pacheco, Krikorian, Emma, Gutman, Boris, Dokoru, Deepika, Helleman, Gerhard, Thompson, Paul M, and Bearden, Carrie E

Subjects
Behavioral and Social Science, Brain Disorders, Pediatric, Neurosciences, Mental Health, Biotechnology, Schizophrenia, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, 22q11 Deletion Syndrome, Brain, Brain Mapping, DNA Copy Number Variations, Female, Gene Dosage, Gene Rearrangement, Humans, Male, Middle Aged, Organ Size, autism spectrum disorder, chromosome 22, copy number variant, neurodevelopment, psychosis, structural neuroimaging, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11.2 duplications (22q-dup; 14 males), and 56 age- and sex-matched controls (31 males). 22q11.2 gene dosage varied positively with intracranial volume, gray and white matter volume, and cortical surface area (deletion < control < duplication). In contrast, gene dosage varied negatively with mean cortical thickness (deletion > control > duplication). Widespread differences were observed for cortical surface area with more localized effects on cortical thickness. These diametric patterns extended into subcortical regions: 22q-dup carriers had a significantly larger right hippocampus, on average, but lower right caudate and corpus callosum volume, relative to 22q-del carriers. Novel subcortical shape analysis revealed greater radial distance (thickness) of the right amygdala and left thalamus, and localized increases and decreases in subregions of the caudate, putamen, and hippocampus in 22q-dup relative to 22q-del carriers. This study provides the first evidence that 22q11.2 is a genomic region associated with gene-dose-dependent brain phenotypes. Pervasive effects on cortical surface area imply that this copy number variant affects brain structure early in the course of development.SIGNIFICANCE STATEMENT Probing naturally occurring reciprocal copy number variation in the genome may help us understand mechanisms underlying deviations from typical brain and cognitive development. The 22q11.2 genomic region is particularly susceptible to chromosomal rearrangements and contains many genes crucial for neuronal development and migration. Not surprisingly, reciprocal genomic imbalances at this locus confer some of the highest known genetic risks for developmental neuropsychiatric disorders. Here we provide the first evidence that brain morphology differs meaningfully as a function of reciprocal genomic variation at the 22q11.2 locus. Cortical thickness and surface area were affected in opposite directions with more widespread effects of gene dosage on cortical surface area.

Published
2017

47. Identification of a male-produced sex-aggregation pheromone for a highly invasive cerambycid beetle, Aromia bungii

Author

Xu, Tian, Yasui, Hiroe, Teale, Stephen A, Fujiwara-Tsujii, Nao, Wickham, Jacob D, Fukaya, Midori, Hansen, Laura, Kiriyama, Satoshi, Hao, Dejun, Nakano, Akio, Zhang, Longwa, Watanabe, Takahito, Tokoro, Masahiko, and Millar, Jocelyn G

Subjects
Agricultural, Veterinary and Food Sciences, Environmental Sciences, Horticultural Production, Animals, Chromatography, Gas, Coleoptera, Female, Introduced Species, Magnetic Resonance Spectroscopy, Male, Sex Attractants
Abstract

The longhorned beetle Aromia bungii (Coleoptera: Cerambycidae) is a major pest of stone fruit trees in the genus Prunus, including cherries, apricots, and peaches. Its native range includes China, Korea, Mongolia, and eastern Russia, but it has recently invaded and become established in several countries in Europe, and Japan, and it has been intercepted in shipments coming into North America and Australia. Here, we report the identification of its male-produced aggregation pheromone as the novel compound (E)-2-cis-6,7-epoxynonenal. In field trials in its native range in China, and in recently invaded areas of Japan, the pheromone attracted both sexes of the beetle. Thus, the pheromone should find immediate use in worldwide quarantine surveillance efforts to detect the beetle in incoming shipments. The pheromone will also be a crucial tool in ongoing efforts to eradicate the beetle from regions of the world that it has already invaded.

Published
2017

48. Spatial working memory in neurofibromatosis 1: Altered neural activity and functional connectivity.

Author

Ibrahim, Amira FA, Montojo, Caroline A, Haut, Kristen M, Karlsgodt, Katherine H, Hansen, Laura, Congdon, Eliza, Rosser, Tena, Bilder, Robert M, Silva, Alcino J, and Bearden, Carrie E

Subjects
Brain, Humans, Neurofibromatosis 1, Memory Disorders, Magnetic Resonance Imaging, Brain Mapping, Memory, Short-Term, Adolescent, Adult, Middle Aged, Female, Male, Young Adult, Spatial Memory, NF1, Psychophysiological interaction, Spatial ability, Working memory, fMRI, Clinical Research, Rare Diseases, Basic Behavioral and Social Science, Behavioral and Social Science, Pediatric, Neurofibromatosis, Neurosciences, Mental Health, Brain Disorders, Underpinning research, 1.2 Psychological and socioeconomic processes, Mental health, Neurological
Abstract

BackgroundNeurofibromatosis Type 1 (NF1) is a genetic disorder that disrupts central nervous system development and neuronal function. Cognitively, NF1 is characterized by difficulties with executive control and visuospatial abilities. Little is known about the neural substrates underlying these deficits. The current study utilized Blood-Oxygen-Level-Dependent (BOLD) functional MRI (fMRI) to explore the neural correlates of spatial working memory (WM) deficits in patients with NF1.MethodsBOLD images were acquired from 23 adults with NF1 (age M = 32.69; 61% male) and 25 matched healthy controls (age M = 33.08; 64% male) during an in-scanner visuo-spatial WM task. Whole brain functional and psycho-physiological interaction analyses were utilized to investigate neural activity and functional connectivity, respectively, during visuo-spatial WM performance. Participants also completed behavioral measures of spatial reasoning and verbal WM.ResultsRelative to healthy controls, participants with NF1 showed reduced recruitment of key components of WM circuitry, the left dorsolateral prefrontal cortex and right parietal cortex. In addition, healthy controls exhibited greater simultaneous deactivation between the posterior cingulate cortex (PCC) and temporal regions than NF1 patients. In contrast, NF1 patients showed greater PCC and bilateral parietal connectivity with visual cortices as well as between the PCC and the cerebellum. In NF1 participants, increased functional coupling of the PCC with frontal and parietal regions was associated with better spatial reasoning and WM performance, respectively; these relationships were not observed in controls.ConclusionsDysfunctional engagement of WM circuitry, and aberrant functional connectivity of 'task-negative' regions in NF1 patients may underlie spatial WM difficulties characteristic of the disorder.

Published
2017

50. No Effects of Carbohydrate Ingestion on Muscle Metabolism or Performance During Short‐Duration High‐Intensity Intermittent Exercise.

Author

Vigh‐Larsen, Jeppe F., Kruse, Daniel Z., Moseholt, Maja B., Hansen, Laura G. B., Christensen, Ann‐Louise L., Bæk, Amanda, Andersen, Ole E., Mohr, Magni, and Overgaard, Kristian

Subjects
MUSCLE physiology, EXERCISE physiology, BIOPSY, FOOD consumption, RESEARCH funding, HIGH-intensity interval training, STATISTICAL sampling, BLIND experiment, RANDOMIZED controlled trials, CYCLING, CROSSOVER trials, BLOOD sugar, THIGH, DIETARY fiber, PHYSICAL fitness, DIETARY carbohydrates, GLYCOGEN, ATHLETIC ability, MUSCLES, DIETARY supplements, ERGOGENIC aids
Abstract

Carbohydrates are critical for high‐intensity exercise performance. However, the effects of carbohydrate supplementation on muscle metabolism and performance during short‐duration high‐intensity intermittent exercise remain inadequately explored. Our aim was to address this aspect in a randomized, counterbalanced, double‐blinded crossover design. Eleven moderately‐to‐well‐trained males performed high‐intensity intermittent cycling receiving carbohydrate (CHO, ~55 g/h) or placebo (PLA) fluid supplementation. Three exercise periods (EX1‐EX3) were completed comprising 10 × 45 s at ~105% Wmax interspersed with 135 s rest between bouts and ~20 min between periods. Repeated sprint ability (5 × 6 s sprints with 24 s recovery) was assessed at baseline and after each period. Thigh muscle biopsies were obtained at baseline and before and after EX3 to determine whole‐muscle and fiber‐type‐specific glycogen depletion. No differences were found in muscle glycogen degradation at the whole‐muscle (p = 0.683) or fiber‐type‐specific level (p = 0.763–0.854) with similar post‐exercise whole‐muscle glycogen concentrations (146 ± 20 and 122 ± 15 mmol·kg−1 dw in CHO and PLA, respectively). Repeated sprint ability declined by ~9% after EX3 with no between‐condition differences (p = 0.971) and no overall differences in ratings of perceived exertion (p = 0.550). This was despite distinctions in blood glucose concentrations throughout exercise, reaching post‐exercise levels of 5.3 ± 0.2 and 4.1 ± 0.2 mmol·L−1 (p < 0.001) in CHO and PLA, respectively, accompanied by fivefold higher plasma insulin levels in CHO (p < 0.001). In conclusion, we observed no effects of carbohydrate ingestion on net muscle glycogen breakdown or sprint performance during short‐duration high‐intensity intermittent exercise despite elevated blood glucose and insulin levels. These results therefore question the efficacy of carbohydrate supplementation strategies in high‐intensity intermittent sports. [ABSTRACT FROM AUTHOR]

Published
2024
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