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24,047 results on '"Weisz A"'

201. You Belong With Me

Author

Weisz, Zac

Subjects
Target marketing, Ex-presidents, General interest, Political science
Abstract

Vice President Kamala Harris courted white women at last night's debate. During her debate with former President Trump, Vice President Kamala Harris targeted one demographic group:Women, white women in particular. [...]

Published
2024

202. Debate caps a 'Cruel Summer' for Trump

Author

Weisz, Zac and Turner, Abby

Subjects
Campaign debates, Economic policy, Ex-presidents, General interest, Political science
Abstract

PRESIDENTIAL DEBATE:Debate Caps a ‘Cruel Summer' for Trump Vice President Kamala Harris repeatedly goaded former President Trump into insults that had nothing to do with policy. * SHAKE IT OFF. [...]

Published
2024

203. It's debate night in America

Author

Weisz, Zac and Turner, Abby

Subjects
FOX News Network L.L.C. -- Political activity, ABC News Inc. -- Political activity, Cable television broadcasting industry -- Political aspects -- Political activity, Television broadcasting industry -- Political activity -- Political aspects, Campaign debates -- Political aspects, Ex-presidents -- Political aspects -- Political activity, General interest, Political science
Abstract

PRESIDENTIAL DEBATE:It's Debate Night in America The first debate between former President Trump and Vice President Kamala Harris begins tonight at 9 p.m. on ABC News. * SAME RULES. As [...]

Published
2024

204. Candidates wrap up prep for debate night

Author

Weisz, Zac and Turner, Abby

Subjects
Campaign debates, Ex-presidents, General interest, Political science
Abstract

PRESIDENTIAL DEBATE:Fail to Prepare, Prepare to Fail? Vice President Kamala Harris has been 'holed up for five days in a Pittsburgh hotel' preparing for tomorrow's debate. 'There's a stage and [...]

Published
2024

205. Harris breaks new ground with astonishing August haul

Author

Weisz, Zac and Turner, Abby

Subjects
Football teams, Ex-presidents, General interest, Political science
Abstract

DEMOCRATS:Harris Breaks New Ground with Astonishing August Haul Vice President Kamala Harris' campaign and its affiliated committees said they raised $361 million in August, adding that they had $404 million [...]

Published
2024

206. ABC confirms mics will be muted at debate

Author

Weisz, Zac and Turner, Abby

Subjects
ABC News Inc., Television broadcasting industry, Ex-presidents, General interest, Political science
Abstract

GENERAL ELECTION:ABC News Confirms Mics Will Be Muted at Debate ABC News announced the details of next week's debate between Vice President Kamala Harris and former President Trump. * NO [...]

Published
2024

207. Not all Chicagoans were behind Harris during DNC

Author

Weisz, Zac and Turner, Abby

Subjects
Political parties, General interest, Political science
Abstract

GENERAL ELECTION:The Cracks in Harris' Base Rumblings of discontent over the Democratic Party were apparent at one barbershop on Chicago's South Side, highlighting how Vice President Kamala Harris will face [...]

Published
2024

208. Rumblings of Black voters' discontent simmer beneath the DNC surface

Author

Weisz, Zac

Subjects
General interest, Political science
Abstract

Kamala Harris's ascent to the nomination hasn't assuaged all Black voters. CHICAGO'Along a parade of sun-kissed, faded storefronts on the city's South Side stands a barbershop that was host to [...]

Published
2024

209. Harris Seeks Daylight from Biden's Shadow

Author

Weisz, Zac

Subjects
General interest, Political science
Abstract

The vice president, who stumped with President Biden yesterday, wants to create a separate identity from her current boss. Vice President Kamala Harris may not have heard of Reinvent Yourself, [...]

Published
2024

210. Harris pushes Trump to have hot mics at debate

Author

Weisz, Zac and Turner, Abby

Subjects
ABC News Inc. -- Political activity, Electioneering, Television broadcasting industry -- Political activity -- Political aspects, Political campaigns, Presidents -- Elections, Ex-presidents -- Political aspects -- Political activity, General interest, Political science
Abstract

DEMOCRATS:Harris Pushes Trump to Have Hot Mics at Debate Vice President Kamala Harris publicly urged former President Trump to allow for unmuted mics at next week's debate on ABC News. [...]

Published
2024

211. The Panchromatic Hubble Andromeda Treasury: Triangulum Extended Region (PHATTER). IV. Star Cluster Catalog

Author

Johnson, L. Clifton, Wainer, Tobin M., TorresVillanueva, Estephani E., Seth, Anil C., Williams, Benjamin F., Durbin, Meredith J., Dalcanton, Julianne J., Weisz, Daniel R., Bell, Eric F., Guhathakurta, Puragra, Skillman, Evan, and Smercina, Adam

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We construct a catalog of star clusters from Hubble Space Telescope images of the inner disk of the Triangulum Galaxy (M33) using image classifications collected by the Local Group Cluster Search, a citizen science project hosted on the Zooniverse platform. We identify 1214 star clusters within the Hubble Space Telescope imaging footprint of the Panchromatic Hubble Andromeda Treasury: Triangulum Extended Region (PHATTER) survey. Comparing this catalog to existing compilations in the literature, 68% of the clusters are newly identified. The final catalog includes multi-band aperture photometry and fits for cluster properties via integrated light SED fitting. The cluster catalog's 50% completeness limit is ~1500 solar masses at an age of 100 Myr, as derived from comprehensive synthetic cluster tests., Comment: 24 pages, 15 figures, 9 tables, Accepted to ApJ

Published
2022
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212. The Panchromatic Hubble Andromeda Treasury: Triangulum Extended Region (PHATTER) II. The Spatially Resolved Recent Star Formation History of M33

Author

Lazzarini, Margaret, Williams, Benjamin F., Durbin, Meredith J., Dalcanton, Julianne J., Smercina, Adam, Bell, Eric F., Choi, Yumi, Dolphin, Andrew, Gilbert, Karoline, Guhathakurta, Puragra, Rosolowsky, Erik, Skillman, Evan, Telford, O. Grace, and Weisz, Daniel

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We measure the spatially resolved recent star formation history (SFH) of M33 using optical images taken with the Hubble Space Telescope as part of the Panchromatic Hubble Andromeda Treasury: Triangulum Extended Region (PHATTER) survey. The area covered by the observations used in this analysis covers a de-projected area of $\sim$38 kpc$^{2}$ and extends to $\sim$3.5 and $\sim$2 kpc from the center of M33 along the major and semi-major axes, respectively. We divide the PHATTER optical survey into 2005 regions that measure 24 arcsec, $\sim$100 pc, on a side and fit color magnitude diagrams for each region individually to measure the spatially resolved SFH of M33 within the PHATTER footprint. There are significant fluctuations in the SFH on small spatial scales and also galaxy-wide scales that we measure back to about 630 Myr ago. We observe a more flocculent spiral structure in stellar populations younger than about 80 Myr, while the structure of the older stellar populations is dominated by two spiral arms. We also observe a bar in the center of M33, which dominates at ages older than about 80 Myr. Finally, we find that the mean star formation rate (SFR) over the last 100 Myr within the PHATTER footprint is 0.32$\pm$0.02 M$_{\odot}$ yr$^{-1}$. We measure a current SFR (over the last 10 Myr) of 0.20$\pm$0.03 M$_{\odot}$ yr$^{-1}$. This SFR is slightly higher than previous measurements from broadband estimates, when scaled to account for the fraction of the D25 area covered by the PHATTER survey footprint., Comment: accepted for publication in ApJ, 37 pages, 18 figures, 6 tables

Published
2022
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213. Cooperation among an anonymous group protected Bitcoin during failures of decentralization

Author

Blackburn, Alyssa, Huber, Christoph, Eliaz, Yossi, Shamim, Muhammad S., Weisz, David, Seshadri, Goutham, Kim, Kevin, Hang, Shengqi, and Aiden, Erez Lieberman

Subjects
Computer Science - Computer Science and Game Theory, Computer Science - Computers and Society, Physics - Physics and Society
Abstract

Bitcoin is a digital currency designed to rely on a decentralized, trustless network of anonymous agents. Using a pseudonymous-address-linking procedure that achieves >99% sensitivity and >99% specificity, we reveal that between launch (January 3rd, 2009), and when the price reached $1 (February 9th, 2011), most bitcoin was mined by only sixty-four agents. This was due to the rapid emergence of Pareto distributions in bitcoin income, producing such extensive resource centralization that almost all contemporary bitcoin addresses can be connected to these top agents by a chain of six transactions. Centralization created a social dilemma. Attackers could routinely exploit bitcoin via a "51% attack", making it possible for them to repeatedly spend the same bitcoins. Yet doing so would harm the community. Strikingly, we find that potential attackers always chose to cooperate instead. We model this dilemma using an N-player Centipede game in which anonymous players can choose to exploit, and thereby undermine, an appreciating good. Combining theory and economic experiments, we show that, even when individual payoffs are unchanged, cooperation is more frequent when the game is played by an anonymous group. Although bitcoin was designed to rely on a decentralized, trustless network of anonymous agents, its early success rested instead on cooperation among a small group of altruistic founders., Comment: 12 pages main text 6 main text figures 76 total pages 23 supplemental figures

Published
2022

214. The Hubble Space Telescope Survey of M31 Satellite Galaxies I. RR Lyrae-based Distances and Refined 3D Geometric Structure

Author

Savino, Alessandro, Weisz, Daniel R., Skillman, Evan D., Dolphin, Andrew, Kallivayalil, Nitya, Wetzel, Andrew, Anderson, Jay, Besla, Gurtina, Boylan-Kolchin, Michael, Bullock, James S., Cole, Andrew A., Collins, Michelle L. M., Cooper, M. C., Deason, Alis J., Dotter, Aaron L., Fardal, Mark, Ferguson, Annette M. N., Fritz, Tobias K., Geha, Marla C., Gilbert, Karoline M., Guhathakurta, Puragra, Ibata, Rodrigo, Irwin, Michael J., Jeon, Myoungwon, Kirby, Evan, Lewis, Geraint F., Mackey, Dougal, Majewski, Steven R., Martin, Nicolas, McConnachie, Alan, Patel, Ekta, Rich, R. Michael, Simon, Joshua D., Sohn, Sangmo Tony, Tollerud, Erik J., and van der Marel, Roeland P.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We measure homogeneous distances to M31 and 38 associated stellar systems ($-$16.8$\le M_V \le$ $-$6.0), using time-series observations of RR Lyrae stars taken as part of the Hubble Space Telescope Treasury Survey of M31 Satellites. From $>700$ orbits of new/archival ACS imaging, we identify $>4700$ RR Lyrae stars and determine their periods and mean magnitudes to a typical precision of 0.01 days and 0.04 mag. Based on Period-Wesenheit-Metallicity relationships consistent with the Gaia eDR3 distance scale, we uniformly measure heliocentric and M31-centric distances to a typical precision of $\sim20$ kpc (3%) and $\sim10$ kpc (8%), respectively. We revise the 3D structure of the M31 galactic ecosystem and: (i) confirm a highly anisotropic spatial distribution such that $\sim80$% of M31's satellites reside on the near side of M31; this feature is not easily explained by observational effects; (ii) affirm the thin (rms $7-23$ kpc) planar "arc" of satellites that comprises roughly half (15) of the galaxies within 300 kpc from M31; (iii) reassess physical proximity of notable associations such as the NGC 147/185 pair and M33/AND XXII; and (iv) illustrate challenges in tip-of-the-red-giant branch distances for galaxies with $M_V > -9.5$, which can be biased by up to 35%. We emphasize the importance of RR Lyrae for accurate distances to faint galaxies that should be discovered by upcoming facilities (e.g., Rubin Observatory). We provide updated luminosities and sizes for our sample. Our distances will serve as the basis for future investigation of the star formation and orbital histories of the entire known M31 satellite system., Comment: 32 pages, 15 figures, accepted for publication on ApJ

Published
2022
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215. Author Correction: Targeted inhibition of ubiquitin signaling reverses metabolic reprogramming and suppresses glioblastoma growth

Author

Rossella Delle Donne, Rosa Iannucci, Laura Rinaldi, Luca Roberto, Maria A. Oliva, Emanuela Senatore, Domenica Borzacchiello, Luca Lignitto, Giorgio Giurato, Francesca Rizzo, Assunta Sellitto, Francesco Chiuso, Salvatore Castaldo, Giovanni Scala, Virginia Campani, Valeria Nele, Giuseppe De Rosa, Chiara D’Ambrosio, Corrado Garbi, Andrea Scaloni, Alessandro Weisz, Concetta Ambrosino, Antonella Arcella, and Antonio Feliciello

Subjects
Biology (General), QH301-705.5
Published
2024
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216. Enzyme-assisted hydrolysis of Theobroma cacao L. pulp

Author

Thomas Bickel Haase, Rukaiya Huseini Babat, Holger Zorn, Susanne Gola, and Ute Schweiggert-Weisz

Subjects
Cocoa pulp, D-optimal design, Enzyme-assisted de-pulping, By-products, Valorisation, Pulp processing, Agriculture (General), S1-972, Nutrition. Foods and food supply, TX341-641
Abstract

Cocoa pulp, a by-product of the cocoa supply chain, has gained the food sector's attention for its pleasant flavour. Enzyme-assisted technologies to facilitate its separation from the cocoa seeds remain largely unexplored. We studied the effects of temperature, enzyme activity and enzyme combinations on the physicochemical properties of cocoa pulp by Response Surface Methodology and D-optimal design. Endo-polygalacturonase, endo-cellulase and hemicellulase activities were investigated. A reduced quadratic model described the relative reduction in viscosity, of the particle diameter dv,0.9 and of the browning index. Polygalacturonase had the strongest influence on viscosity, while cellulase had the least effect. Synergistic effects of polygalacturonase with cellulase and/or hemicellulase were identified. The model predicted maximal reductions in viscosity by 70.3 % with 275 U of polygalacturonase and 275 U of hemicellulase at 40 °C. Fresh pulp's dv,0.9 was 613 μm. Combining all enzyme activities reduced the dv,0.9–418 μm (40 °C, total activity: 580 U). Only the temperature proved to significantly influence the browning index, with higher temperatures causing a higher colouring effect. Lastly, the model was successfully validated for the relative reduction in viscosity and the dv,0.9. Our study provides key insights into the enzyme-assisted processing of cocoa pulp, facilitating its separation from the seeds. By utilising the pulp, innovative ingredients can be developed for the food sector, and at the same time, the added value in the cocoa supply chain can be improved.

Published
2024
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217. The feasibility of a social media-based foot self-management education and support program for adults with diabetes: A partially randomized preference trial

Author

Helen Ngozichukwuka Obilor, Olena Veryha, Tom Weisz, Mariam Botros, Rosemary Wilson, Joan Tranmer, and Kevin Woo

Subjects
Diabetic foot, Feasibility studies, Patient education, Self-management, Social media, Public aspects of medicine, RA1-1270
Abstract

Aim: To assess the feasibility of Diabetic Foot Care Group (DFCG), a social media-based self-management education and support intervention, for people with diabetes (PWD) empowerment in diabetes-related foot ulceration prevention. Methods: A partially randomized preference trial was conducted among 32 PWD. DFCG was implemented through Facebook. Participants in the intervention group joined the DFCG in addition to their usual care, while the control group received usual care. Data were collected online using questionnaires on participants' DFCG acceptance, engagement and preliminary efficacy on nine diabetes foot care-related outcomes at baseline, one, and three months post-intervention. Results: The participants' study intervention acceptability and engagement rates were 84.2% and 55.2%, respectively. DFCG efficacy rate compared to usual care was 88.9% to 22.2%. Three diabetes foot care-related outcomes increased significantly in the intervention group three-month post-intervention: foot self-care adherence (p = 0.001, ηp2 = 0.35), preventive foot self-care practice (p = 0.002, ηp2 = 0.33), and physical health status (p

Published
2024
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220. Evaluating a Modular Approach to Therapy for Children with Anxiety, Depression, Trauma, or Conduct Problems (MATCH) in School-Based Mental Health Care: Study Protocol for a Randomized Controlled Trial

Author

Harmon, Sherelle L., Price, Maggi A., Corteselli, Katherine A., Lee, Erica H., Metz, Kristina, Bonadio, F. Tony, Hersh, Jacqueline, Marchette, Lauren K., Rodríguez, Gabriela M., Raftery-Helmer, Jacquelyn, Thomassin, Kristel, Bearman, Sarah Kate, Jensen-Doss, Amanda, Evans, Spencer C., and Weisz, John R.

Abstract

Introduction: Schools have become a primary setting for providing mental health care to youths in the U.S. School-based interventions have proliferated, but their effects on mental health and academic outcomes remain understudied. In this study we will implement and evaluate the effects of a flexible multidiagnostic treatment called Modular Approach to Therapy for Children with Anxiety, Depression, Trauma, or Conduct Problems (MATCH) on students' mental health and academic outcomes. Methods and Analysis: This is an assessor-blind randomized controlled effectiveness trial conducted across five school districts. School clinicians are randomized to either MATCH or usual care (UC) treatment conditions. The target sample includes 168 youths (ages 7-14) referred for mental health services and presenting with elevated symptoms of anxiety, depression, trauma, and/or conduct problems. Clinicians randomly assigned to MATCH or UC treat the youths who are assigned to them through normal school referral procedures. The project will evaluate the effectiveness of MATCH compared to UC on youths' mental health and school related outcomes and assess whether changes in school outcomes are mediated by changes in youth mental health.

Published
2021
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224. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., and Carvill, Gemma L.

Published
2024
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225. Selective early medical treatment of the patent ductus arteriosus in extremely low gestational age infants: a pilot randomised controlled trial protocol (SMART-PDA)

Author

Jon Dorling, Lehana Thabane, Souvik Mitra, Anup C Katheria, Walid El-Naggar, Dany E Weisz, Amish Jain, Michael Castaldo, Patrick J McNamara, Abbas Hyderi, Kumar Kumaran, Tara Hatfield, Audrey Hebert, Jenny Koo, Tim Disher, Santokh Dhillon, Ziad Alhassen, Marjorie Makoni, Fabiana Bacchini, and Austin Cameron

Subjects
Medicine
Abstract

Introduction Patent ductus arteriosus (PDA) is the most common cardiovascular problem that develops in extremely preterm infants and is associated with poor clinical outcomes. Uncertainty exists on whether early pharmacotherapeutic treatment of a clinically symptomatic and echocardiography-confirmed haemodynamically significant PDA in extremely preterm infants improves outcomes. Given the wide variation in the approach to PDA treatment in this gestational age (GA) group, a randomised trial design is essential to address the question. Before embarking on a large RCT in this vulnerable population, it is important to establish the feasibility of such a trial.Methods and analysis Design: a multi-centre, open-labelled, parallel-designed pilot randomised controlled trial.Participants: preterm infants born

Published
2024
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226. Prediction of overall survival in patients with locally advanced pancreatic cancer using longitudinal diffusion-weighted MRI

Author

Anne L. H. Bisgaard, Carsten Brink, Tine Schytte, Rana Bahij, Mathilde Weisz Ejlsmark, Uffe Bernchou, Anders S. Bertelsen, Per Pfeiffer, and Faisal Mahmood

Subjects
diffusion-weighted MRI, biomarker, pancreatic cancer, apparent diffusion coefficient, overall survival, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Background and purposeBiomarkers for prediction of outcome in patients with pancreatic cancer are wanted in order to personalize the treatment. This study investigated the value of longitudinal diffusion-weighted magnetic resonance imaging (DWI) for prediction of overall survival (OS) in patients with locally advanced pancreatic cancer (LAPC) treated with stereotactic body radiotherapy (SBRT).Materials and methodsThe study included 45 patients with LAPC who received 5 fractions of 10 Gy on a 1.5T MRI-Linac. DWI was acquired prior to irradiation at each fraction. The analysis included baseline values and time-trends of the apparent diffusion coefficient (ADC) and DWI parameters obtained using a decomposition method. A multivariable Cox proportional hazards model for OS was made using best-subset selection, using cross-validation based on Bootstrap.ResultsThe median OS from the first day of SBRT was 15.5 months (95% CI: 13.2-20.6), and the median potential follow-up time was 19.8 months. The best-performing multivariable model for OS included two decomposition-based DWI parameters: one baseline and one time-trend parameter. The C-Harrell index describing the model’s discriminating power was 0.754. High baseline ADC values were associated with reduced OS, whereas no association between the ADC time-trend and OS was observed.ConclusionDecomposition-based DWI parameters indicated value in the prediction of OS in LAPC. A DWI time-trend parameter was included in the best-performing model, indicating a potential benefit of acquiring longitudinal DWI during the SBRT course. These findings support both baseline and longitudinal DWI as candidate prognostic biomarkers, which may become tools for personalization of the treatment of patients with LAPC.

Published
2024
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227. When the Plot Thickens: Writing the Textured Children's Novel in an Era of Corporate Taste

Author

Noah Weisz

Subjects
Special aspects of education, LC8-6691, Literature (General), PN1-6790
Abstract

Amidst today’s competitive children’s publishing market, craft principles can be difficult to disentangle from well-intentioned tips on how to secure a literary agent or create a marketable book. Agents’ own “corporate taste” (a term coined by scholar Laura B. McGrath) influences what gets written and published, bending children’s literature toward stories with a fast-paced, straightforward, easily pitchable plot. Yet much of what makes a great novel for children lies in everything left out of the pitch – in the textural material that lends a novel not narrative energy but the layered richness of lived experience. This article explores this tension by examining Rebecca Stead’s bestselling, Newbery Medal-winning middle-grade novel _When You Reach Me_ (2009). Gripping, hooky and short, it satisfies key tenets of market-based craft advice yet actually spends over half its pages on subplots. By investigating how this book integrates suspense and quick pacing with the enriching qualities of texture, this article seeks to illuminate techniques writers can use to thicken their stories’ textures and build more impactful novels without falling afoul of industry constraints.

Published
2024
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228. Structural Differences at Quadruplex‐Duplex Interfaces Enable Ligand‐Induced Topological Transitions

Author

Yoanes Maria Vianney, Dorothea Dierks, and Klaus Weisz

Subjects
induced fit, intercalation, NMR spectroscopy, Phen‐DC3, quadruplex‐duplex junction, Science
Abstract

Abstract Quadruplex‐duplex (QD) junctions, which represent unique structural motifs of both biological and technological significance, have been shown to constitute high‐affinity binding sites for various ligands. A QD hybrid construct based on a human telomeric sequence, which harbors a duplex stem‐loop in place of a short lateral loop, is structurally characterized by NMR. It folds into two major species with a (3+1) hybrid and a chair‐type (2+2) antiparallel quadruplex domain coexisting in a K+ buffer solution. The antiparallel species is stabilized by an unusual capping structure involving a thymine and protonated adenine base AH+ of the lateral loop facing the hairpin duplex to form a T·AH+·G·C quartet with the interfacial G·C base pair at neutral pH. Addition and binding of Phen‐DC3 to the QD hybrid mixture by its partial intercalation at corresponding QD junctions leads to a topological transition with exclusive formation of the (3+1) hybrid fold. In agreement with the available experimental data, such an unprecedented discrimination of QD junctions by a ligand can be rationalized following an induced fit mechanism.

Published
2024
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229. Chloride/proton antiporters ClC3 and ClC5 support bone formation in mice

Author

Irina L. Tourkova, Quitterie C. Larrouture, Silvia Liu, Jianhua Luo, Katherine E. Shipman, Kelechi M. Onwuka, Ora A. Weisz, Vladimir Riazanski, Deborah J. Nelson, Matthew L. MacDonald, Paul H. Schlesinger, and Harry C. Blair

Subjects
ClC3, ClC5, Bone formation rate, Mineral transport, Diseases of the musculoskeletal system, RC925-935
Abstract

Acid transport is required for bone synthesis by osteoblasts. The osteoblast basolateral surface extrudes acid by Na+/H+ exchange, but apical proton uptake is undefined. We found high expression of the Cl−/H+ exchanger ClC3 at the bone apical surface. In mammals ClC3 functions in intracellular vesicular chloride transport, but when we found Cl− dependency of H+ transport in osteoblast membranes, we queried whether ClC3 Cl−/H+ exchange functions in bone formation. We used ClC3 knockout animals, and closely-related ClC5 knockout animals: In vitro studies suggested that both ClC3 and ClC5 might support bone formation. Genotypes were confirmed by total exon sequences. Expression of ClC3, and to a lesser extent of ClC5, at osteoblast apical membranes was demonstrated by fluorescent antibody labeling and electron microscopy with nanometer gold labeling. Animals with ClC3 or ClC5 knockouts were viable. In ClC3 or ClC5 knockouts, bone formation decreased ~40 % by calcein and xylenol orange labeling in vivo. In very sensitive micro-computed tomography, ClC5 knockout reduced bone relative to wild type, consistent with effects of ClC3 knockout, but varied with specific histological parameters. Regrettably, ClC5-ClC3 double knockouts are not viable, suggesting that ClC3 or ClC5 activity are essential to life. We conclude that ClC3 has a direct role in bone formation with overlapping but probably slightly smaller effects of ClC5. The mechanism in mineral formation might include ClC H+ uptake, in contrast to ClC3 and ClC5 function in cell vesicles or other organs.

Published
2024
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230. Fluid shear stress-induced changes in megalin trafficking enhance endocytic capacity in proximal tubule cells

Author

Emily M. Lackner, Isabella A. Cowan, Kimberly R. Long, Ora A. Weisz, and Katherine E. Shipman

Subjects
endocytosis, megalin, mathematical model, gentamicin, shear stress, Physiology, QP1-981
Abstract

Proximal tubule (PT) cells maintain a high-capacity apical endocytic pathway to recover essentially all proteins that escape the glomerular filtration barrier. The multi ligand receptors megalin and cubilin play pivotal roles in the endocytic uptake of normally filtered proteins in PT cells but also contribute to the uptake of nephrotoxic drugs, including aminoglycosides. We previously demonstrated that opossum kidney (OK) cells cultured under continuous fluid shear stress (FSS) are superior to cells cultured under static conditions in recapitulating essential functional properties of PT cells in vivo. To identify drivers of the high-capacity, efficient endocytic pathway in the PT, we compared FSS-cultured OK cells with less endocytically active static-cultured OK cells. Megalin and cubilin expression are increased, and endocytic uptake of albumin in FSS-cultured cells is > 5-fold higher compared with cells cultured under static conditions. To understand how differences in receptor expression, distribution, and trafficking rates contribute to increased uptake, we used biochemical, morphological, and mathematical modeling approaches to compare megalin traffic in FSS- versus static-cultured OK cells. Our model predicts that culturing cells under FSS increases the rates of all steps in megalin trafficking. Importantly, the model explains why, despite seemingly counterintuitive observations (a reduced fraction of megalin at the cell surface, higher colocalization with lysosomes, and a shorter half-life of surface-tagged megalin in FSS-cultured cells), uptake of albumin is dramatically increased compared with static-grown cells. We also show that FSS-cultured OK cells more accurately exhibit the mechanisms that mediate uptake of nephrotoxic drugs in vivo compared with static-grown cells. This culture model thus provides a useful platform to understand drug uptake mechanisms, with implications for developing interventions in nephrotoxic injury prevention.

Published
2024
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231. Hardy-Littlewood-type theorems for Fourier transforms in $\R^d$

Author

Dyachenko, Mikhail, Nursultanov, Erlan, Tikhonov, Sergey, and Weisz, Ferenc

Subjects
Mathematics - Classical Analysis and ODEs, 42B25, 42A38, 42B30
Abstract

We obtain Fourier inequalities in the weighted $L_p$ spaces for any $1

Published
2022

232. Formation of proto-globular cluster candidates in cosmological simulations of dwarf galaxies at $z>4$

Author

Sameie, Omid, Boylan-Kolchin, Michael, Hopkins, Philip F., Wetzel, Andrew, Ma, Xiangcheng, Bullock, James S., El-Badry, Kareem, Quataert, Eliot, Samuel, Jenna, Schauer, Anna T. P., and Weisz, Daniel R.

Subjects
Astrophysics - Astrophysics of Galaxies, Astrophysics - Cosmology and Nongalactic Astrophysics
Abstract

We perform cosmological hydrodynamical simulations to study the formation of proto-globular cluster candidates in progenitors of present-day dwarf galaxies $(M_{\rm vir} \approx 10^{10}\, {\rm M}_\odot$ at $z=0$) as part of the "Feedback in Realistic Environment" (FIRE) project. Compact ($r_{1/2}<30$ pc), relatively massive ($0.5 \times 10^5 \lesssim M_{\star}/{\rm M}_\odot \lesssim 5\times10^5$), self-bound stellar clusters form at $11\gtrsim z \gtrsim 5$ in progenitors with $M_{\rm vir} \approx 10^9\,{\rm M}_\odot$. Cluster formation is triggered when at least $10^7\,{\rm M}_\odot$ of dense, turbulent gas reaches $\Sigma_{\rm gas} \approx 10^4\, {\rm M}_\odot\, {\rm pc}^{-2}$ as a result of the compressive effects of supernova feedback or from cloud-cloud collisions. The clusters can survive for $2-3\,{\rm Gyr}$; absent numerical effects, they would likely survive substantially longer, perhaps to $z=0$. The longest-lived clusters are those that form at significant distance -- several hundreds of pc -- from their host galaxy. We therefore predict that globular clusters forming in progenitors of present-day dwarf galaxies will be offset from any pre-existing stars within their host dark matter halos as opposed to deeply embedded within a well-defined galaxy. Properties of the nascent clusters are consistent with observations of some of the faintest and most compact high-redshift sources in \textit{Hubble Space Telescope} lensing fields and are at the edge of what will be detectable as point sources in deep imaging of non-lensed fields with the \textit{James Webb Space Telescope}. By contrast, the star clusters' host galaxies will remain undetectable., Comment: 14 pages, 5 figures, submitted to MNRAS

Published
2022
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237. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Borroto, Maria Carla, Patel, Heena, Srivastava, Siddharth, Swanson, Lindsay C., Keren, Boris, Whalen, Sandra, Mignot, Cyril, Wang, Xiaodong, Chen, Qian, McLean, Scott, Littlejohn, Rebecca O., Emrick, Lisa, Attali, Ruben, Lesca, Gaetan, Acquaviva-Bourdain, Cecile, Sarret, Catherine, Seaver, Laurie H., Platzer, Konrad, Bartolomaeus, Tobias, Wünsch, Cornelia, Fischer, Susann, Rodriguez Barreto, Ana Maria, Granadillo, Jorge L., Schreiner, Elisabeth, Brunet, Theresa, Schatz, Ulrich A., Thiffault, Isabelle, Mullegama, Sureni V., Michaud, Jacques L., Hamdan, Fadi F., Rossignol, Elsa, and Campeau, Philippe M.

Published
2024
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238. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Author

Acosta, Maria T., Adams, David R., Raquel, Alvarez, L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Carvhalo Neto, George D., Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Grajewski, Alana, Hadley, Don, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Moore, Ryan M., Morava, Eva, Moretti, Paolo, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Huang, Yue, Jay, Kristy L., Yen-Wen Huang, Alden, Jangam, Sharayu V., Chorin, Odelia, Rothschild, Annick, Barel, Ortal, Mariani, Milena, Iascone, Maria, Xue, Han, Huang, Jing, Mignot, Cyril, Keren, Boris, Saillour, Virginie, Mah-Som, Annelise Y., Sacharow, Stephanie, Rajabi, Farrah, Costin, Carrie, Kanca, Oguz, and Martinez-Agosto, Julian A.

Published
2024
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239. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Author

Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Botto, Lorenzo, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Callaway, Kaitlin, Carey, John, Carvalho, George, Cassini, Thomas, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Corner, Brian, Corona, Rosario I., Craigen, William J., Crouse, Andrew B., Cuddapah, Vishnu, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Delgado, Margaret, Dell’Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douglas, Jessica, Douine, Emilie D., Earl, Dawn, Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Gahl, William A., Ganetzky, Rebecca, Glanton, Emily, Glass, Ian, Goddard, Page C., Gonzalez, Joanna M., Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hurst, Anna, Introne, Wendy, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean, Jobanputra, Vaidehi, Kaitryn, Emerald, Kanca, Oguz, Karasozen, Yigit, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korf, Bruce, Korrick, Susan, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latchman, Kumarie, LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Might, Matthew, Mikati, Mohamad, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Peart, LéShon, Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rodriguez, Martin, Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Skelton, Tammi, Skraban, Cara, Smith, Carson A., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Wood, Heidi, Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Findley, Laura, Ni, Weihong, Sinsheimer, Janet S., Cole, F. Session, Esteves, Cecilia, Newman, John H., and Mokry, Jill R.

Published
2024
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240. Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

Author

Morimoto, Marie, Ryu, Eunjin, Steger, Benjamin J., Dixit, Abhijit, Saito, Yoshihiko, Yoo, Juyeong, van der Ven, Amelie T., Hauser, Natalie, Steinbach, Peter J., Oura, Kazumasa, Huang, Alden Y., Kortüm, Fanny, Ninomiya, Shinsuke, Rosenthal, Elisabeth A., Robinson, Hannah K., Guegan, Katie, Denecke, Jonas, Subramony, Sankarasubramoney H., Diamonstein, Callie J., Ping, Jie, Fenner, Mark, Balton, Elsa V., Strohbehn, Sam, Allworth, Aimee, Bamshad, Michael J., Gandhi, Mahi, Dipple, Katrina M., Blue, Elizabeth E., Jarvik, Gail P., Lau, C. Christopher, Holm, Ingrid A., Weisz-Hubshman, Monika, Solomon, Benjamin D., Nelson, Stanley F., Nishino, Ichizo, Adams, David R., Kang, Sukhyun, Gahl, William A., Toro, Camilo, Myung, Kyungjae, and Malicdan, May Christine V.

Published
2024
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241. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Author

Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Emrick, Lisa T., Ketkar, Shamika, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tarakad, Arjun, Tran, Alyssa A., Vogel, Tiphanie P., Hubshman, Monika Weisz, Worley, Kim, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Kanca, Oguz, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Falk, Marni, Hassey, Kelly, Izumi, Kosuke, Kilich, Gonench, Sullivan, Kathleen, Vanderver, Adeline, Zhang, Zhe, Raper, Anna, Jobanputra, Vaidehi, Mikati, Mohamad, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Douglas, Jessica, Glanton, Emily, Kobren, Shilpa N., Kohane, Isaac S., LeBlanc, Kimberly, Maghiro, Audrey Stephannie C., Mahoney, Rachel, McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Peart, LéShon, Rebelo, Adriana, Smith, Carson A., Tekin, Mustafa, Thorson, Willa, Zuchner, Stephan, Taylor, Herman, Colley, Heather A., Dayal, Jyoti G., Doss, Argenia L., Eckstein, David J., Hutchison, Sarah, Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Urv, Tiina K., Acosta, Maria T., D'Souza, Precilla, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Mulvihill, John J., Novacic, Donna, Pusey Swerdzewski, Barbara N., Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Davis, Joie, Delgado, Margaret, Fu, Jiayu, Gahl, William A., Hanchard, Neil, Huang, Yan, Introne, Wendy, Jean-Marie, Orpa, Malicdan, May Christine V., Morimoto, Marie, Petcharet, Leoyklang, Rossignol, Francis, Sabaii, Marla, Solomon, Ben, Tifft, Cynthia J., Wolfe, Lynne A., Wood, Heidi, Allworth, Aimee, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kaitryn, Emerald, Lam, Christina, Miller, Danny, Mirzaa, Ghayda, Raskind, Wendy, Rosenthal, Elizabeth, Shelkowitz, Emily, Sheppeard, Sam, Stergachis, Andrew, Sybert, Virginia, Wener, Mark, Wenger, Tara, Alvarez, Raquel L., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fisher, Paul G., Goddard, Page C., Halley, Meghan C., Hom, Jason, Kohler, Jennefer N., Kravets, Elijah, Martin, Beth A., Marwaha, Shruti, Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Ungar, Rachel A., Wheeler, Matthew T., Ashley, Euan A., Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Huang, Alden, Krakow, Deborah, Loo, Sandra K., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Sinsheimer, Janet S., Wan, Jijun, Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Longo, Nicola, Moretti, Paolo, Pace, Laura, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Marth, Gabor, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Neumann, Serena, Phillips, John A., III, Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Cole, F. Sessions, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Moulton, Matthew J., Atala, Kristhen, Zheng, Yiming, Dutta, Debdeep, Grange, Dorothy K., Lin, Wen-Wen, Wegner, Daniel J., Wambach, Jennifer A., Duker, Angela L., Bober, Michael B., Kratz, Lisa, Wise, Carol A., Oxendine, Ila, Khanshour, Anas, and Rios, Jonathan

Published
2024
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243. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Sessions Cole, F., Colley, Heather A., Cope, Heidi, Corner, Brian, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dickson, Patricia, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Lawrence Merritt, J., Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Carl Pallais, J., Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Ron Scott, C., Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Legro, Nicole R., Bowman, Angela, Ugur, Berrak, Jackstadt, Madelyn M., Shriver, Leah P., Patti, Gary J., Zhang, Bo, Feng, Wenjia, McAdow, Anthony R., Goddard, Pagé, Jensen, Tanner, Fresard, Laure, Alvarez, Raquel, McCormack, Colleen, Holt, James M., Worthey, Elizabeth A., Montgomery, Stephen B., Postlethwait, John, De Camilli, Pietro, and Solnica-Krezel, Lila

Published
2024
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244. Noninvasive Respiratory Support or Intubation during Stabilization after Birth and Neonatal and Neurodevelopmental Outcomes in Infants Born Preterm at 23-25 Weeks of Gestation

Author

Beltempo, Marc, Shah, Prakesh S., Pillay, Thevanisha, Wong, Jonathan, Stavel, Miroslav, Sherlock, Rebecca, Mehrem, Ayman Abou, Toye, Jennifer, Ting, Joseph, Fajardo, Carlos, Harabor, Andrei, Strueby, Lannae, Seshia, Mary, Louis, Deepak, Ruth, Chelsea, Yi, Ann, Mukerji, Amit, Da Silva, Orlando, Augustine, Sajit, Lee, Kyong-Soon, Ng, Eugene, Lemyre, Brigitte, Khurshid, Faiza, Bizgu, Victoria, Nouraeyan, Nina, Barrington, Keith, Lapointe, Anie, Drolet, Christine, Claveau, Martine, St-Hilaire, Marie, Bertelle, Valerie, Masse, Edith, Barbosa de Oliveira, Caio, Makary, Hala, de Carvalho Nunes, Gabriela, Alburaki, Wissam, Hudson, Jo-Anna, Afifi, Jehier, Kajetanowicz, Andrzej, Piedboeuf, Bruno, Whittle, Wendy, Agarwal, Swati, Lim, Kenneth, Liauw, Jessica, El-Chaar, Darine, Theriault, Katherine, Roy-Lacroix, Marie-Ève, Butt, Kimberly, O'Quinn, Candace, Pylypjuk, Alberta; Christy, Boucoiran, Isabelle, Taillefer, Catherine, Crane, Joan, Abenhaim, Haim, Smith, Graeme, Wou, Karen, Chandra, Sue, Ubhi, Jagdeep, Figueiro-Filho, Ernesto, Helewa, Michael, Grigoriu, Ariadna, Gratton, Rob, Chan, Cynthia, de Caralho Nunes, Gabriela, Porto, Ludmila, Melamed, Nir, Burrows, Jason, Wesson, Lara, MacLellan, Erin, Hayward, James, Allen, Victoria, VanDyk, Jessie, Moodley, Anitha, Hendson, Leonora, Benlamri, Amina, Reichert, Amber, Shafey, Amy, Moddemann, Diane, de Cabo, Cecilia, Ricci, M. Florencia, Seesahai, Judy, McKnight, Sarah, Coughlin, Kevin, Ly, Linh, Raghuram, Kamini, Thomas, Karen, Banihani, Rudaina, Nguyen, Kim-Anh, Khairy, May, Garfinkle, Jarred, Luu, Thuy Mai, Morin, Alyssa, Bélanger, Sylvie, Lipp, Rachel, Lodha, Abhay, Weisz, Dany, McKanna, Julie, Matthews, Ian, Hicks, Matthew, Alvaro, Ruben, and Abou Mehrem, Ayman

Published
2025
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245. Whole Genome Sequence Dataset of Mycobacterium tuberculosis Strains from Patients of Campania Region

Author

Veronica Folliero, Carlo Ferravante, Valentina Iovane, Annamaria Salvati, Laura Crescenzo, Rossella Perna, Giusy Corvino, Maria T. Della Rocca, Vittorio Panetta, Alessandro Tranfa, Giuseppe Greco, Teresa Baldoni, Ugo Pagnini, Emiliana Finamore, Giorgio Giurato, Giovanni Nassa, Mariagrazia Coppola, Luigi Atripaldi, Rita Greco, Annamaria D’Argenio, Maria Grazia Foti, Rosamaria Abate, Annalisa Del Giudice, Bruno Sarnelli, Alessandro Weisz, Giuseppe Iovane, Renato Pinto, Gianluigi Franci, and Massimiliano Galdiero

Subjects
Science
Abstract

Abstract Tuberculosis (TB) is one of the deadliest infectious disorders in the world. To effectively TB manage, an essential step is to gain insight into the lineage of Mycobacterium tuberculosis (MTB) and the distribution of drug resistance. Although the Campania region is declared a cluster area for the infection, to contribute to the effort to understand TB evolution and transmission, still poorly known, we have generated a dataset of 159 genomes of MTB strains, from Campania region collected during 2018–2021, obtained from the analysis of whole genome sequence. The results show that the most frequent MTB lineage is the 4 according for 129 strains (81.11%). Regarding drug resistance, 139 strains (87.4%) were classified as multi susceptible, while the remaining 20 (12.58%) showed drug resistance. Among the drug-resistance strains, 8 were isoniazid-resistant MTB, 4 multidrug-resistant MTB, while only one was classified as pre-extensively drug-resistant MTB. This dataset expands the existing available knowledge on drug resistance and evolution of MTB, contributing to further TB-related genomics studies to improve the management of this disease.

Published
2024
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246. The perceived impact of climate change on mental health and suicidality in Kenyan high school students

Author

David M. Ndetei, Danuta Wasserman, Victoria Mutiso, Jenelle R. Shanley, Christine Musyimi, Pascalyne Nyamai, Timothy Munyua, Monica H. Swahn, John R. Weisz, Tom L. Osborn, Kamaldeep Bhui, Natalie E. Johnson, Panu Pihkala, Peter Memiah, Sonja Gilbert, Afzal Javed, and Andre Sourander

Subjects
Climate change, Mental health, Suicidality, Youth, High-school students, Survey, Psychiatry, RC435-571
Abstract

Abstract Background Climate change has psychological impacts but most of the attention has been focused on the physical impact. This study was aimed at determining the association of climate change with adolescent mental health and suicidality as reported by Kenyan high school students. Methods This was a cross sectional study with a sample size of 2,652. The participants were high school students selected from 10 schools in 3 regions of Kenya. A questionnaire was used to assess climate change experiences, mental health problems, and suicidality of the youth. Data were analyzed descriptively and with logistic regression to determine various associations of the different variables and the predictors of the various scores of SDQ and suicidality at 95% CI. Results Significant differences were observed between gender and two of the threats of climate change – worry and being afraid as subjectively experienced by the participants. Females were more worried and afraid of climate change than males. On univariate and multivariate logistic regression, we found that various experiences of climate change were significantly associated with various scores of SDQ and much fewer of the experiences predicted SDQ scores. The same pattern was reflected in suicidality. Conclusion Climate change appears to be associated with mental health concerns and suicidality according to Kenyan high school students’ reports with gender differences in some associations.

Published
2024
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247. Downregulation of praja2 restrains endocytosis and boosts tyrosine kinase receptors in kidney cancer

Author

Laura Rinaldi, Francesco Chiuso, Emanuela Senatore, Domenica Borzacchiello, Luca Lignitto, Rosa Iannucci, Rossella Delle Donne, Mariano Fuggi, Carla Reale, Filomena Russo, Nicola Antonino Russo, Giorgio Giurato, Francesca Rizzo, Assunta Sellitto, Michele Santangelo, Davide De Biase, Orlando Paciello, Chiara D’Ambrosio, Stefano Amente, Corrado Garbi, Emiliano Dalla, Andrea Scaloni, Alessandro Weisz, Concetta Ambrosino, Luigi Insabato, and Antonio Feliciello

Subjects
Biology (General), QH301-705.5
Abstract

Abstract Clear cell renal cell carcinoma (ccRCC) is the most common kidney cancer in the adult population. Late diagnosis, resistance to therapeutics and recurrence of metastatic lesions account for the highest mortality rate among kidney cancer patients. Identifying novel biomarkers for early cancer detection and elucidating the mechanisms underlying ccRCC will provide clues to treat this aggressive malignant tumor. Here, we report that the ubiquitin ligase praja2 forms a complex with-and ubiquitylates the AP2 adapter complex, contributing to receptor endocytosis and clearance. In human RCC tissues and cells, downregulation of praja2 by oncogenic miRNAs (oncomiRs) and the proteasome markedly impairs endocytosis and clearance of the epidermal growth factor receptor (EGFR), and amplifies downstream mitogenic and proliferative signaling. Restoring praja2 levels in RCC cells downregulates EGFR, rewires cancer cell metabolism and ultimately inhibits tumor cell growth and metastasis. Accordingly, genetic ablation of praja2 in mice upregulates RTKs (i.e. EGFR and VEGFR) and induces epithelial and vascular alterations in the kidney tissue. In summary, our findings identify a regulatory loop between oncomiRs and the ubiquitin proteasome system that finely controls RTKs endocytosis and clearance, positively impacting mitogenic signaling and kidney cancer growth.

Published
2024
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248. Investigating the citing communities around three leading health-system frameworks

Author

George Weisz and Jonathan Harper

Subjects
Citation community, World Health Organization, Alliance for Health Policy and Systems Research, Harvard-World Bank Flagship Program, Global Burden of Disease, Health Policy and Systems Research, Public aspects of medicine, RA1-1270
Abstract

Abstract Of numerous proposed frameworks for analyzing and impacting health systems, three stand out for the large number of publications that cite them and for their links to influential international institutions: Murray and Frenk (Bull World Health Organ 78:717–31, 2000) connected initially to the World Health Organization (WHO) and then to the Global Burden of Disease Project; Roberts et al. (Getting health reform right: a guide to improving performance and equity, Oxford University Press, Oxford, 2004) sponsored by the World Bank/Harvard Flagship Program; and de Savigny and Adam (Systems thinking for health systems strengthening, WHO, 2009) linked to the WHO and the Alliance for Health Policy and Systems Research. In this paper, we examine the citation communities that form around these works to better understand the underlying logic of these citation grouping as well as the dynamics of Global Health research on health systems. We conclude that these groupings are largely independent of one another, reflecting a range of factors including the goals of each framework and the problems that it was meant to explore, the prestige and authority of institutions and individuals associated with these frameworks, and the intellectual and geographic proximity of the citing researchers to each other and to the framework authors.

Published
2024
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249. Better Together? An Evaluation of AI-Supported Code Translation

Author

Weisz, Justin D., Muller, Michael, Ross, Steven I., Martinez, Fernando, Houde, Stephanie, Agarwal, Mayank, Talamadupula, Kartik, and Richards, John T.

Subjects
Computer Science - Human-Computer Interaction, Computer Science - Software Engineering
Abstract

Generative machine learning models have recently been applied to source code, for use cases including translating code between programming languages, creating documentation from code, and auto-completing methods. Yet, state-of-the-art models often produce code that is erroneous or incomplete. In a controlled study with 32 software engineers, we examined whether such imperfect outputs are helpful in the context of Java-to-Python code translation. When aided by the outputs of a code translation model, participants produced code with fewer errors than when working alone. We also examined how the quality and quantity of AI translations affected the work process and quality of outcomes, and observed that providing multiple translations had a larger impact on the translation process than varying the quality of provided translations. Our results tell a complex, nuanced story about the benefits of generative code models and the challenges software engineers face when working with their outputs. Our work motivates the need for intelligent user interfaces that help software engineers effectively work with generative code models in order to understand and evaluate their outputs and achieve superior outcomes to working alone., Comment: 35 pages, 3 figures. To be published in IUI 2022

Published
2022
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250. Investigating Explainability of Generative AI for Code through Scenario-based Design

Author

Sun, Jiao, Liao, Q. Vera, Muller, Michael, Agarwal, Mayank, Houde, Stephanie, Talamadupula, Kartik, and Weisz, Justin D.

Subjects
Computer Science - Human-Computer Interaction, Computer Science - Artificial Intelligence, Computer Science - Software Engineering
Abstract

What does it mean for a generative AI model to be explainable? The emergent discipline of explainable AI (XAI) has made great strides in helping people understand discriminative models. Less attention has been paid to generative models that produce artifacts, rather than decisions, as output. Meanwhile, generative AI (GenAI) technologies are maturing and being applied to application domains such as software engineering. Using scenario-based design and question-driven XAI design approaches, we explore users' explainability needs for GenAI in three software engineering use cases: natural language to code, code translation, and code auto-completion. We conducted 9 workshops with 43 software engineers in which real examples from state-of-the-art generative AI models were used to elicit users' explainability needs. Drawing from prior work, we also propose 4 types of XAI features for GenAI for code and gathered additional design ideas from participants. Our work explores explainability needs for GenAI for code and demonstrates how human-centered approaches can drive the technical development of XAI in novel domains.

Published
2022

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