Submissions from 2022
The GBA1 D409V mutation exacerbates synuclein pathology to differing extents in two alpha-synuclein models., Nicole K Polinski, Terina N Martinez, Sylvie Ramboz, Michael Sasner, Mark Herberth, Robert Switzer, Syed O Ahmad, Lee J Pelligrino, Sean W Clark, Jacob N Marcus, Sean M Smith, Kuldip D Dave, and Mark A Frasier
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders., David Porubsky, Wolfram Höps, Hufsah Ashraf, PingHsun Hsieh, Bernardo Rodriguez-Martin, Feyza Yilmaz, Jana Ebler, Pille Hallast, Flavia Angela Maria Maggiolini, William T Harvey, Barbara Henning, Peter A Audano, David S Gordon, Peter Ebert, Patrick Hasenfeld, Eva Benito, Qihui Zhu, Charles Lee, Francesca Antonacci, Matthias Steinrücken, Christine R Beck, Ashley D Sanders, Tobias Marschall, Evan E Eichler, and Jan O Korbel
Systematic reconstruction of cellular trajectories across mouse embryogenesis., Chengxiang Qiu, Junyue Cao, Beth K Martin, Tony Li, Ian C Welsh, Sanjay Srivatsan, Xingfan Huang, Diego Calderon, William Stafford Noble, Christine M Disteche, Stephen A. Murray, Malte Spielmann, Cecilia B Moens, Cole Trapnell, and Jay Shendure
Conference report: Biocuration 2021 Virtual Conference., Federica Quaglia, Rama Balakrishnan, Susan M. Bello, and Nicole Vasilevsky
Editorial: Genetic basis of tolerance induction defects underlying the development of autoimmune pathologies., Jeremy Racine, Laurence Morel, Yi-Guang Chen, and David V. Serreze
The 677C > T variant in methylenetetrahydrofolate reductase causes morphological and functional cerebrovascular deficits in mice, Alaina M Reagan, Karen E Christensen, Leah C. Graham, Amanda A Bedwell, Kierra Eldridge, Rachael Speedy, Lucas L Figueiredo, Scott C Persohn, Teodoro Bottiglieri, Kwangsik Nho, Michael Sasner, Paul R Territo, Rima Rozen, and Gareth R Howell
Improving mouse models for the study of Alzheimer's disease., Alaina M Reagan, Kristen D. Onos, Sarah E Heuer, Michael Sasner, and Gareth R Howell
NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study., Justin T Reese, Ben D Coleman, Lauren Chan, Hannah Blau, Tiffany J Callahan, Luca Cappelletti, Tommaso Fontana, Katie R Bradwell, Nomi L Harris, Elena Casiraghi, Giorgio Valentini, Guy Karlebach, Rachel Deer, Julie A McMurry, Melissa A Haendel, Christopher G Chute, Emily Pfaff, Richard Moffitt, Heidi Spratt, Jasvinder A Singh, Christopher J Mungall, Andrew E Williams, and Peter N Robinson
Rapamycin/metformin co-treatment normalizes insulin sensitivity and reduces complications of metabolic syndrome in type 2 diabetic mice, Peter C. Reifsnyder, Kevin Flurkey, Rosalinda A. Doty, Nigel A. Calcutt, Robert A. Koza, and David E Harrison
Predictable Fluctuations in Excitatory Synaptic Strength Due to Natural Variation in Presynaptic Firing Rate., Naixin Ren, Ganchao Wei, Abed Ghanbari, and Ian H Stevenson
Harmonizing model organism data in the Alliance of Genome Resources., Alliance of Genome Resources Consortium, Anna V. Anagnostopoulos, Susan M. Bello, Judith A. Blake, Olin Blodgett, Carol J. Bult, Karen R. Christie, Mary E. Dolan, Paul Hale, James A. Kadin, Monica S. McAndrews, Howie Motenko, David R. Shaw, Constance M. Smith, Cynthia L. Smith, Monika Tomczuk, and Laurens G. Wilming
Multiple genome viewer (MGV): a new tool for visualization and comparison of multiple annotated genomes., Joel E Richardson, Richard M. Baldarelli, and Carol J Bult
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels., Erin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R Clause, Avinash V Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R Grant, Madeline Y Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M Maloney, Shruthi Mohan, Ikeoluwa A Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M Savatt, Hermela Shimelis, Rebecca K Siegert, Tam P Sneddon, Courtney Thaxton, Kelly A Toner, Kien Trung Tran, Ryan Webb, Emma H Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A S Vorstman, David T Miller, and Christian P Schaaf
High-temporal resolution profiling reveals distinct immune trajectories following the first and second doses of COVID-19 mRNA vaccines., Darawan Rinchai, Sara Deola, Gabriele Zoppoli, Basirudeen Syed Ahamed Kabeer, Sara Taleb, Igor Pavlovski, Selma Maacha, Giusy Gentilcore, Mohammed Toufiq, Lisa Mathew, Li Liu, Fazulur Rehaman Vempalli, Ghada Mubarak, Stephan Lorenz, Irene Sivieri, Gabriella Cirmena, Chiara Dentone, Paola Cuccarolo, Daniele Roberto Giacobbe, Federico Baldi, Alberto Garbarino, Benedetta Cigolini, Paolo Cremonesi, Michele Bedognetti, Alberto Ballestrero, Matteo Bassetti, Boris P Hejblum, Tracy Augustine, Nicholas Van Panhuys, Rodolphe Thiebaut, Ricardo Branco, Tracey Chew, Maryam Shojaei, Kirsty Short, Carl G Feng, PREDICT-19 Consortium, Susu M Zughaier, Andrea De Maria, Benjamin Tang, Ali Ait Hssain, Davide Bedognetti, Jean-Charles Grivel, and Damien Chaussabel
Mouse Genome Informatics (MGI): latest news from MGD and GXD., Martin Ringwald, Joel E Richardson, Richard M. Baldarelli, Judith A. Blake, James A. Kadin, Cynthia Smith, and Carol J Bult
Obesity: Policy and Practice Recommendations for High-Risk Populations Influenced by the COVID-19 Pandemic, Kathryn N. Robinson and Deborah A. Saber
[Rare-disease data standards]., Peter N Robinson and Holm Graessner
Genomic heterogeneity underlies multidrug resistance in Pseudomonas aeruginosa: A population-level analysis beyond susceptibility testing., Laura J Rojas, Mohamad Yasmin, Jacquelynn Benjamino, Steven M Marshall, Kailynn J DeRonde, Nikhil P Krishnan, Federico Perez, Andrew A Colin, Monica Cardenas, Octavio Martinez, Armando Pérez-Cardona, Daniel D Rhoads, Michael R Jacobs, John J LiPuma, Michael W Konstan, Alejandro J Vila, Andrea Smania, Andrew R Mack, Jacob G Scott, Mark D Adams, Lilian M Abbo, and Robert A Bonomo
Reading Frame Repair of TTN Truncation Variants Restores Titin Quantity and Functions, Robert Romano, Shahnaz Ghahremani, Talia Zimmerman, Nicholas Legere, Ketan Thakar, Feria A Ladha, Anthony M Pettinato, and J Travis Hinson
A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease, Alexander Martin Rossor, Mahima Kapoor, Henny Wellington, Emily L Spaulding, James N. Sleigh, Robert W. Burgess, Matilde Laura, Henrik Zetterberg, Alexa Bacha, Xingyao Wu, Amanda Heslegrave, Michael E. Shy, and Mary M. Reilly
Circulating CD34+ cells of primary myelofibrosis patients contribute to myeloid-dominant hematopoiesis and bone marrow fibrosis in immunodeficient mice., Noriyuki Saito, Takuji Yamauchi, Noriaki Kawano, Rintaro Ono, Shuro Yoshida, Toshihiro Miyamoto, Tomohiko Kamimura, Leonard D. Shultz, Yoriko Saito, Katsuto Takenaka, Kazuya Shimoda, Mine Harada, Koichi Akashi, and Fumihiko Ishikawa
Defining the microbiome of the head and neck: A contemporary review, Ruwaa Samarrai, Samantha Frank, Avery Lum, Kristina Woodis, George M. Weinstock, and Daniel Roberts
Performance Modeling of Scalable Resource Allocations with the Imperial PEPA Compiler, William S. Sanders, Srishti Srivastava, and Ionana Banicescu
Voluntary workplace genomic testing: wellness benefit or Pandora's box?, Kunal Sanghavi, Betty Cohn, Anya E R Prince, W Gregory Feero, Kerry A Ryan, Kayte Spector-Bagdady, Wendy R Uhlmann, Charles Lee, J Scott Roberts, and Debra J H Mathews
Cell origin-dependent cooperativity of mutant Dnmt3a and Npm1 in clonal hematopoiesis and myeloid malignancy., Jennifer M SanMiguel, Elizabeth Eudy, Matthew A Loberg, Linde A Miles, Timothy M Stearns, Jayna J Mistry, Michael J Rauh, Ross L Levine, and Jennifer J. Trowbridge
Distinct Tumor Necrosis Factor Alpha Receptors Dictate Stem Cell Fitness versus Lineage Output in Dnmt3a-Mutant Clonal Hematopoiesis., Jennifer M. SanMiguel, Elizabeth Eudy, Matthew A. Loberg, Kira Young, Jayna J. Mistry, Kristina D. Mujica, Logan S. Schwartz, Timothy M. Stearns, Grant A Challen, and Jennifer J. Trowbridge
Genetically diverse mouse platform to xenograft cancer cells, Jennifer K Sargent, Mark A. Warner, Benjamin E. Low, William H. Schott, Todd Hoffert, David Coleman, Xing Yi Woo, Todd B Sheridan, Sonia Erattupuzha, Philipp P Henrich, Vivek M. Philip, Jeffrey Chuang, Michael V. Wiles, and Muneer G. Hasham
The collaborative cross strains and their founders vary widely in cocaine-induced behavioral sensitization., Sarah A Schoenrock, Leona H. Gagnon, Ashley A Olson, Michael Leonardo, Vivek M. Philip, Hao He, Laura G. Reinholdt, S J Sukoff Rizzo, James D Jentsch, Elissa J Chesler, and Lisa M Tarantino
The Human Disease Ontology 2022 update., Lynn M Schriml, James B Munro, Mike Schor, Dustin Olley, Carrie McCracken, Victor Felix, J Allen Baron, Rebecca Jackson, Susan M. Bello, Cynthia Bearer, Richard Lichenstein, Katharine Bisordi, Nicole Campion Dialo, Michelle Giglio, and Carol Greene
A standardized nomenclature for mammalian histone genes., Ruth L Seal, Paul Denny, Elspeth A Bruford, Anna K Gribkova, David Landsman, William F Marzluff, Monica McAndrews, Anna R Panchenko, Alexey K Shaytan, and Paul B Talbert
Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG), Laurie H. Seaver; George Khushf; Nancy M. King; Dena R. Matalon; Kunal Sanghavi; Matteo Vatta; Kristi Wees; and on behalf of the ACMG Social, Ethical and Legal Issues Committee
Multi-scale phase separation by explosive percolation with single-chromatin loop resolution., Kaustav Sengupta, Michał Denkiewicz, Mateusz Chiliński, Teresa Szczepińska, Ayatullah Faruk Mollah, Sevastianos Korsak, Raissa D'Souza, Yijun Ruan, and Dariusz Plewczynski
NIH SenNet Consortium to map senescent cells throughout the human lifespan to understand physiological health., SenNet Consortium, Paul Robson, Elise T Courtois, Jeffrey Chuang, Monica Davé, Sergii Domanskyi, Giray Naim Eryilmaz, Jon Gelfond, Shane Sanders, Asa Thibodeau, Duygu Ucar, and Brian S White
Regulated dicing of pre-mir-144 via reshaping of its terminal loop., Renfu Shang, Dmitry A Kretov, Scott I Adamson, Thomas Treiber, Nora Treiber, Jeffrey Vedanayagam, Jeffrey H Chuang, Gunter Meister, Daniel Cifuentes, and Eric C Lai
A Need for More Molecular Profiling in Brain Metastases., Erica Shen, Amanda E D Van Swearingen, Meghan J Price, Ketan Bulsara, Roel G W Verhaak, César Baëta, Brice D Painter, Zachary J Reitman, April K S Salama, Jeffrey M Clarke, Carey K Anders, Peter E Fecci, C Rory Goodwin, and Kyle M Walsh
Stride-level analysis of mouse open field behavior using deep-learning-based pose estimation., Keith Sheppard, Justin Gardin, Gautam S Sabnis, Asaf Peer, Megan Darrell, Sean P Deats, Brian Q Geuther, Cathleen Lutz, and Vivek Kumar
Transcriptional and Translational Dynamics of Zika and Dengue Virus Infection., Kamini Singh, Maria Guadalupe Martinez, Jianan Lin, James Gregory, Trang Uyen Nguyen, Rawan Abdelaal, Kristy Kang, Kristen Brennand, Arnold Grünweller, Zhengqing Ouyang, Hemali Phatnani, Margaret Kielian, and Hans-Guido Wendel
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries., Doris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, Federico Tessadori, Jan Hendrik van Weerd, Odilia I Woudstra, Fleur V Y Tjong, Najim Lahrouchi, Fanny Bajolle, Heather J Cordell, A J Agopian, Gillian M Blue, Daniela Q C M Barge-Schaapveld, Marc Gewillig, Christoph Preuss, Elisabeth M Lodder, Phil Barnett, Aho Ilgun, Leander Beekman, Karel van Duijvenboden, Regina Bokenkamp, Martina Müller-Nurasyid, Hubert W Vliegen, Thelma C Konings, Joost P van Melle, Arie P J van Dijk, Roland R J van Kimmenade, Jolien W Roos-Hesselink, Gertjan T Sieswerda, Folkert Meijboom, Hashim Abdul-Khaliq, Felix Berger, Sven Dittrich, Marc-Phillip Hitz, Julia Moosmann, Frank-Thomas Riede, Stephan Schubert, Pilar Galan, Mark Lathrop, Hans M Munter, Ammar Al-Chalabi, Christopher E Shaw, Pamela J Shaw, Karen E Morrison, Jan H Veldink, Leonard H van den Berg, Sylvia Evans, Marcelo A Nobrega, Ivy Aneas, Milena Radivojkov-Blagojević, Thomas Meitinger, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F Smythe, Luis Altamirano-Diaz, Jane Lougheed, Berto J Bouma, Marie-A Chaix, Jennie Kline, Anne S Bassett, Gregor Andelfinger, Roel L F van der Palen, Patrice Bouvagnet, Sally-Ann B Clur, Jeroen Breckpot, Wilhelmina S Kerstjens-Frederikse, David S Winlaw, Ulrike M M Bauer, Seema Mital, Elizabeth Goldmuntz, Bernard Keavney, Damien Bonnet, Barbara J Mulder, Michael W T Tanck, Jeroen Bakkers, Vincent M Christoffels, Cornelis J Boogerd, Alex V Postma, and Connie R Bezzina
Advances in Animal Models and Cutting-Edge Research in Alternatives: Proceedings of the Second International Conference on 3Rs Research and Progress, Hyderabad, 2021, Akshay Sonawane, Bharadwaja Vadloori, Suresh Poosala, Helena Kandarova, Mandar Kulkarni, Adedamola Olayanju, Tuli Dey, Uday Saxena, Lena Smirnova, Yasunari Kanda, Jaganmohan Reddy, Subhadra Dravida, Saikat Biswas, Mathieu Vinken, Montip Gettayacamin, Arti Ahluwalia, Franco Mondini, Somshuvra Bhattacharya, Pushkar Kulkarni, Kirsten Rosenmay Jacobsen, Subrahmanyam Vangala, and Ana Luiza Mill√°s
A-Kinase Anchor Protein 1 deficiency causes mitochondrial dysfunction in mouse model of hyperoxia induced acute lung injury., Ramani Soundararajan, Helena Hernández-Cuervo, Timothy M Stearns, Anthony J Griswold, Sahebgowda Sidramagowda Patil, Jutaro Fukumoto, Venkata Ramireddy Narala, Lakshmi Galam, Richard Lockey, and Narasaiah Kolliputi
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy., Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Goar Frishman, Corinna Montrone, Hamed Haseli Mashhadi, Jeremy Mason, Violeta Munoz Fuentes, Stefanie Leuchtenberger, Andreas Ruepp, Matias Wagner, Dominik S Westphal, Cordula Wolf, Agnes Görlach, Adrián Sanz-Moreno, Yi-Li Cho, Raffaele Teperino, Stefan Brandmaier, Sapna Sharma, Isabella Rikarda Galter, Manuela A Östereicher, Lilly Zapf, Philipp Mayer-Kuckuk, Jan Rozman, Lydia Teboul, Rosie K A Bunton-Stasyshyn, Heather Cater, Michelle Stewart, Skevoulla Christou, Henrik Westerberg, Amelia M Willett, Janine M Wotton, Willson B Roper, Audrey E Christiansen, Christopher S Ward, Jason D Heaney, Corey L Reynolds, Jan Prochazka, Lynette Bower, David Clary, Mohammed Selloum, Ghina Bou About, Olivia Wendling, Hugues Jacobs, Sophie Leblanc, Hamid Meziane, Tania Sorg, Enrique Audain, Arthur Gilly, Nigel W Rayner, IMPC consortium, Genomics England Research Consortium, Marc-Phillip Hitz, Eleftheria Zeggini, Eckhard Wolf, Radislav Sedlacek, Stephen A Murray, Karen L. Svenson, Robert E Braun, Jacqueline K White, Lois Kelsey, Xiang Gao, Toshihiko Shiroishi, Ying Xu, Je Kyung Seong, Fabio Mammano, Glauco P Tocchini-Valentini, Arthur L Beaudet, Terrence F Meehan, Helen Parkinson, Damian Smedley, Ann-Marie Mallon, Sara E Wells, Harald Grallert, Wolfgang Wurst, Susan Marschall, Helmut Fuchs, Steve D M Brown, Ann M Flenniken, Lauryl M J Nutter, Colin McKerlie, Yann Herault, K C Kent Lloyd, Mary E Dickinson, Valerie Gailus-Durner, and Martin Hrabe de Angelis
Large-Scale CRISPRi and Transcriptomics of Staphylococcus epidermidis Identify Genetic Factors Implicated in Lifestyle Versatility., Michelle Spoto, Johanna P. Riera Puma, Elizabeth Fleming, Changhui Guan, Yvette Ondouah Nzutchi, Dean Kim, and Julia Oh
Deep phenotyping: symptom annotation made simple with SAMS., Robin Steinhaus, Sebastian Proft, Evelyn Seelow, Tobias Schalau, Peter N Robinson, and Dominik Seelow
FABIAN-variant: predicting the effects of DNA variants on transcription factor binding., Robin Steinhaus, Peter N Robinson, and Dominik Seelow
Analysis of Salmonella Typhi Pathogenesis in a Humanized Mouse Model., Taylor A Stepien, Stephen J Libby, Joyce E Karlinsey, Michael A Brehm, Dale L Greiner, Leonard D. Shultz, Thea Brabb, and Ferric C Fang
Lifespan benefits for the combination of rapamycin plus acarbose and for captopril in genetically heterogeneous mice., Randy Strong, Richard A Miller, Catherine J Cheng, James F Nelson, Jonathan Gelfond, Shailaja Kesaraju Allani, Vivian Diaz, Angela Olsen Dorigatti, Jonathan Dorigatti, Elizabeth Fernandez, Andrzej Galecki, Brett Ginsburg, Karyn L Hamilton, Martin A Javors, Kerry Kornfeld, Matt Kaeberlein, Suja Kumar, David B Lombard, Marisa Lopez-Cruzan, Benjamin F Miller, Peter Rabinovitch, Peter C. Reifsnyder, Nadia Rosenthal, Molly A. Bogue, Adam B Salmon, Yousin Suh, Eric Verdin, Herbert Weissbach, John Newman, Francesca Maccchiarini, and David E. Harrison
Comprehensive Molecular Characterization of Adenocarcinoma of the Gastroesophageal Junction Between Esophageal and Gastric Adenocarcinomas, Yun-Suhk Suh, Deukchae Na, Ju-Seog Lee, Jeesoo Chae, EuiHyun Kim, Giyong Jang, Jieun Lee, Jimin Min, Chan-Young Ock, Seong-Ho Kong, Joshy George, Chengsheng Zhang, Hyuk-Joon Lee, Jong-Il Kim, Seong-Jin Kim, Woo Ho Kim, Charles Lee, and Han-Kwang Yang
Witch Nails (Krt90whnl): A spontaneous mouse mutation affecting nail growth and development., John P Sundberg, Hannah Galantino-Homer, Heather Fairfield, Patricia F. Ward-Bailey, Belinda S. Harris, Melissa L. Berry, C Herbert Pratt, Nicholas E Gott, Lesley S Bechtold, Pauline R Kaplan, Blythe P Durbin-Johnson, David M Rocke, and Robert H Rice
Animals, quality and the pursuit of relevance., Karen L. Svenson, Stephen D Krasinski, Michael Ellis, Nadia Rosenthal, Edison Liu, and Kenneth H Fasman
Transcriptional control of retinal ganglion cell death after axonal injury., Stephanie B Syc-Mazurek, Hongtian Stanley Yang, Olivia J Marola, Gareth R Howell, and Richard T Libby
TALE.Sense: A Versatile DNA Sensor Platform for Live Mammalian Cells., Aziz Taghbalout, Nathaniel L. Jillette, and Albert W Cheng
3D patient-derived tumor models to recapitulate pediatric brain tumors In Vitro., Min D Tang-Schomer, Harshpreet Chandok, Wei-Biao Wu, Ching C Lau, Markus J Bookland, and Joshy George
Single-cell analysis of endometriosis reveals a coordinated transcriptional programme driving immunotolerance and angiogenesis across eutopic and ectopic tissues., Yuliana Tan, William F Flynn, Santhosh Sivajothi, Diane Luo, Suleyman B Bozal, Monica Davé, Anthony A Luciano, Paul Robson, Danielle E Luciano, and Elise T Courtois
Integrated DNA Copy Number and Expression Profiling Identifies IGF1R as a Prognostic Biomarker in Pediatric Osteosarcoma., Aaron M Taylor, Jiayi M Sun, Alexander Yu, Horatiu Voicu, Jianhe Shen, Donald A Barkauskas, Timothy J Triche, Julie M Gastier-Foster, Tsz-Kwong Man, and Ching C Lau
Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability, Polakit Teekakirikul, Wenjuan Zhu, Xinxiu Xu, Cullen B Young, Tuantuan Tan, Amanda M Smith, Chengdong Wang, Kevin A Peterson, George C Gabriel, Sebastian Ho, Yi Sheng, Anne Moreau de Bellaing, Daniel A Sonnenberg, Jiuann-Huey Lin, Elisavet Fotiou, Gennadiy Tenin, Michael X Wang, Yijen L Wu, Timothy Feinstein, William Devine, Honglan Gou, Abha S Bais, Benjamin J Glennon, Maliha Zahid, Timothy C Wong, Ferhaan Ahmad, Michael J Rynkiewicz, William J Lehman, Bernard Keavney, Tero-Pekka Alastalo, Mary-Louise Freckmann, Kyle Orwig, Stephen A Murray, Stephanie M Ware, Hui Zhao, Brian Feingold, and Cecilia W Lo
GZMK(high) CD8(+) T effector memory cells are associated with CD15(high) neutrophil abundance in non-metastatic colorectal tumors and predict poor clinical outcome, Silvia Tiberti, Carlotta Catozzi, Ottavio Croci, Mattia Ballerini, Danilo Cagnina, Chiara Soriani, Caterina Scirgolea, Zheng Gong, Jiatai He, Angeli D Macandog, Amir Nabinejad, Carina B Nava Lauson, Arianna Quinte', Giovanni Bertalot, Wanda L Petz, Simona P Ravenda, Valerio Licursi, Paola Paci, Marco Rasponi, Luca Rotta, Nicola Fazio, Guangwen Ren, Uberto Fumagalli-Romario, Martin H Schaefer, Stefano Campaner, Enrico Lugli, Luigi Nezi, and Teresa Manzo
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita., Hemanth Tummala, Amanda Walne, Roberto Buccafusca, Jenna Alnajar, Anita Szabo, Peter N Robinson, Allyn McConkie-Rosell, Meredith Wilson, Suzanne Crowley, Veronica Kinsler, Anna-Maria Ewins, Pradeepa M Madapura, Manthan Patel, Nikolas Pontikos, Veryan Codd, Tom Vulliamy, and Inderjeet Dokal
c-MYC-USP49-BAG2 axis promotes proliferation and chemoresistance of colorectal cancer cells in vitro., Rongfu Tu, Wenqian Kang, Ye Kang, Ziyi Chen, Peng Zhang, Xiaofan Xiong, Junpeng Ma, Run-Lei Du, and Chengsheng Zhang
The emerging role of deubiquitylating enzymes as therapeutic targets in cancer metabolism., Rongfu Tu, Junpeng Ma, Peng Zhang, Ye Kang, Xiaofan Xiong, Junsheng Zhu, Miao Li, and Chengsheng Zhang
Single-cell multi-omics reveals dyssynchrony of the innate and adaptive immune system in progressive COVID-19., Avraham Unterman, Tomokazu S Sumida, Nima Nouri, Xiting Yan, Amy Y Zhao, Victor Gasque, Jonas C Schupp, Hiromitsu Asashima, Yunqing Liu, Carlos Cosme, Wenxuan Deng, Ming Chen, Micha Sam Brickman Raredon, Kenneth B Hoehn, Guilin Wang, Zuoheng Wang, Giuseppe DeIuliis, Neal G Ravindra, Ningshan Li, Christopher Castaldi, Patrick Wong, John Fournier, Santos Bermejo, Lokesh Sharma, Arnau Casanovas-Massana, Chantal B F Vogels, Anne L Wyllie, Nathan D Grubaugh, Anthony Melillo, Hailong Meng, Yan Stein, Maksym Minasyan, Subhasis Mohanty, William E Ruff, Inessa Cohen, Khadir Raddassi, Laura E Niklason, Albert I Ko, Ruth R Montgomery, Shelli F Farhadian, Akiko Iwasaki, Albert C Shaw, David van Dijk, Hongyu Zhao, Steven H Kleinstein, David A Hafler, Naftali Kaminski, and Charles S Dela Cruz
CCR5: The Receptor That Unlocks the Door for HIV Entry into Cells., Derya Unutmaz
MYC regulates a pan-cancer network of co-expressed oncogenic splicing factors., Laura M Urbanski, Mattia Brugiolo, SungHee Park, Brittany Lynn Angarola, Nathan Leclair, Marina Yurieva, Phil Palmer, Sangram Keshari Sahu, and Olga Anczuków
Glioma progression is shaped by genetic evolution and microenvironment interactions., Frederick S Varn, Kevin C Johnson, Jan Martinek, Jason T Huse, MacLean P Nasrallah, Pieter Wesseling, Lee A D Cooper, Tathiane M Malta, Taylor E Wade, Thais S Sabedot, Daniel Brat, Peter V Gould, Adelheid Wöehrer, Kenneth Aldape, Azzam Ismail, Santhosh Sivajothi, Floris P Barthel, Hoon Kim, Emre Kocakavuk, Nazia Ahmed, Kieron White, Indrani Datta, Hyo-Eun Moon, Steven Pollock, Christine Goldfarb, Ga-Hyun Lee, Luciano Garofano, Kevin J Anderson, Djamel Nehar-Belaid, Jill S Barnholtz-Sloan, Spyridon Bakas, Annette T Byrne, Fulvio D'Angelo, Hui K Gan, Mustafa Khasraw, Simona Migliozzi, D Ryan Ormond, Sun Ha Paek, Erwin G Van Meir, Annemiek M E Walenkamp, Colin Watts, Tobias Weiss, Michael Weller, Karolina Palucka, Lucy F Stead, Laila M Poisson, Houtan Noushmehr, Antonio Iavarone, and Roel G W Verhaak
A comprehensive long-read isoform analysis platform and sequencing resource for breast cancer., Diogo Troggian Veiga, Alex V Nesta, Yuqi Zhao, Anne Deslattes Mays, Richie Huynh, Robert J Rossi, Te-Chia Wu, Karolina Palucka, Olga Anczuków, Christine R Beck, and Jacques Banchereau
QTLViewer: an interactive webtool for genetic analysis in the Collaborative Cross and Diversity Outbred mouse populations, Matthew J Vincent, Isabela Gerdes Gyuricza, Gregory R Keele, Daniel Mario Gatti, Mark P. Keller, Karl W. Broman, and Gary Churchill
Skin Microbiome Variation with Cancer Progression in Human Cutaneous Squamous Cell Carcinoma., Anita Y Voigt, Akintunde Emiola, Jethro Johnson, Elizabeth Fleming, Hoan Nguyen, Wei Zhou, Kenneth Y Tsai, Christine Fink, and Julia Oh
Targeting p21Cip1 highly expressing cells in adipose tissue alleviates insulin resistance in obesity, Lichao Wang, Binsheng Wang, Nathan S Gasek, Yueying Zhou, Rachel L Cohn, Dominique E Martin, Wulin Zuo, William F Flynn, Chun Guo, Evan R Jellison, Taewan Kim, Larissa G P Langhi Prata, Allyson K Palmer, Ming Li, Christina L Inman, Lauren S Barber, Iman M A Al-Naggar, Yanjiao Zhou, Wenqiang Du, Kshitiz, George A Kuchel, Alexander Meves, Tamar Tchkonia, James L Kirkland, Paul Robson, and Ming Xu
Identification of Distinct Immune Cell Subsets Associated With Asymptomatic Infection, Disease Severity, and Viral Persistence in COVID-19 Patients, Xiaorui Wang, Han Bai, Junpeng Ma, Hongyu Qin, Qiqi Zeng, Fang Hu, Tingting Jiang, Weikang Mao, Yang Zhao, Xiaobei Chen, Xin Qi, Mengyang Li, Jiao Xu, Jingcan Hao, Yankui Wang, Xi Ding, Yuanrui Liu, Tianlong Huang, Chao Fang, Changli Ge, Dong Li, Ke Hu, Xianwen Ren, Baojun Zhang, Binghong Zhang, Bingyin Shi, and Chengsheng Zhang
Brain and spinal cord lesions in 28 inbred strains of aging mice., Jerrold M Ward, Peter Vogel, and John P Sundberg
Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model., Sonia M Weatherly, Gayle B. Collin, Jeremy R. Charette, Lisa Stone, Nattaya Damkham, Lillian F Hyde, James G Peterson, Wanda L. Hicks, Gregory W. Carter, Juergen K. Naggert, Mark P. Krebs, and Patsy M. Nishina
Independent and Interactive Effects of Genetic Background and Sex on Tissue Metabolomes of Adipose, Skeletal Muscle, and Liver in Mice., Ann E Wells, William T Barrington, Stephen Dearth, Nikhil Milind, Gregory W. Carter, David W Threadgill, Shawn R Campagna, and Brynn H Voy
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities., Catherine Wicklund, Kunal Sanghavi, Bernice Coleman, Katherine Johansen Taber, Jacquelyn Y Taylor, Kathryn C Asalone, and Sarah Beachy
A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources., Ken Wiley, Laura Findley, Madison Goldrich, Tejinder K Rakhra-Burris, Ana Stevens, Pamela Williams, Carol J Bult, Rex Chisholm, Patricia Deverka, Geoffrey S Ginsburg, Eric D Green, Gail Jarvik, George A Mensah, Erin Ramos, Mary V Relling, Dan M Roden, Robb Rowley, Gil Alterovitz, Samuel Aronson, Lisa Bastarache, James J Cimino, Erin L Crowgey, Guilherme Del Fiol, Robert R Freimuth, Mark A Hoffman, Janina Jeff, Kevin Johnson, Kensaku Kawamoto, Subha Madhavan, Eneida A Mendonca, Lucila Ohno-Machado, Siddharth Pratap, Casey Overby Taylor, Marylyn D Ritchie, Nephi Walton, Chunhua Weng, Teresa Zayas-Cabán, Teri A Manolio, and Marc S Williams
Sequencing and assembling bear genomes: the bare necessities., Courtney Willey and Ron Korstanje
Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)., Heather E Williams, Lila Aiyar, Mary Beth Dinulos, David Flannery, Michelle L McClure, Michele A Lloyd-Puryear, Kunal Sanghavi, Tracy L Trotter, David Viskochil, and ACMG Advocacy and Government Affairs Committee
Functional elements of the cis-regulatory lincRNA-p21., Lauren Winkler, Maria Jimenez, Joshua T Zimmer, Adam Williams, Matthew D Simon, and Nadya Dimitrova
A Genomically and Clinically Annotated Patient-Derived Xenograft Resource for Preclinical Research in Non-Small Cell Lung Cancer., Xing Yi Woo, Anuj Srivastava, Philip C Mack, Joel H. Graber, Brian J Sanderson, Michael W Lloyd, Mandy Chen, Sergii Domanskyi, Regina Gandour-Edwards, Rebekah A Tsai, James G. Keck, Mingshan Cheng, Margaret Bundy, Emily L Jocoy, Jonathan W Riess, William Holland, Stephen C. Grubb, James G Peterson, Grace Stafford, Carolyn Paisie, Steven Neuhauser, Radha Krishna Murthy Karuturi, Joshy George, Allen K. Simons, Margaret Chavaree, Clifford G Tepper, Neal Goodwin, Susan Airhart, Primo N Lara, Thomas H Openshaw, Edison Liu, David R Gandara, and Carol J Bult
Identifying genetic determinants of inflammatory pain in mice using a large-scale gene-targeted screen., Janine M Wotton, Emma Peterson, Ann M Flenniken, Rasneer S Bains, Surabi Veeraragavan, Lynette R Bower, Jason A. Bubier, Marc Parisien, Alexandr Bezginov, Hamed Haselimashhadi, Jeremy Mason, Michayla A Moore, Michelle E Stewart, Dave A Clary, Daniel J Delbarre, Laura C. Anderson, Abigail D'Souza, Leslie Goodwin, Mark E Harrison, Ziyue Huang, Matthew Mckay, Dawei Qu, Luis Santos, Subhiksha Srinivasan, Rachel Urban, Igor Vukobradovic, Christopher S Ward, Amelia M Willett, Robert E Braun, Steve D M Brown, Mary E Dickinson, Jason D Heaney, Vivek Kumar, K C Kent Lloyd, Ann-Marie Mallon, Colin McKerlie, Stephen A. Murray, Lauryl M J Nutter, Helen Parkinson, John R Seavitt, Sara Wells, Rodney C Samaco, Elissa J Chesler, Damian Smedley, Luda Diatchenko, Kyle M Baumbauer, Erin E Young, Robert P Bonin, Silvia Mandillo, and Jacqueline K White
Age and diet shape the genetic architecture of body weight in diversity outbred mice., Kevin M Wright, Andrew Deighan, Andrea Di Francesco, Adam Freund, Vladimir Jojic, Gary Churchill, and Anil Raj
Natural Coevolution of Tumor and Immunoenvironment in Glioblastoma., Lingxiang Wu, Wei Wu, Junxia Zhang, Zheng Zhao, Liangyu Li, Mengyan Zhu, Min Wu, Fan Wu, Fengqi Zhou, Yuxin Du, Rui-Chao Chai, Wei Zhang, Xiaoguang Qiu, Quanzhong Liu, Ziyu Wang, Jie Li, Kening Li, Apeng Chen, Yinan Jiang, Xiangwei Xiao, Han Zou, Rashmi Srivastava, Tingting Zhang, Yun Cai, Yuan Liang, Bin Huang, Ruohan Zhang, Fan Lin, Lang Hu, Xiuxing Wang, Xu Qian, Sali Lv, Baoli Hu, Siyuan Zheng, Zhibin Hu, Hongbing Shen, Yongping You, Roel G W Verhaak, Tao Jiang, and Qianghu Wang
Novel App knock-in mouse model shows key features of amyloid pathology and reveals profound metabolic dysregulation of microglia., Dan Xia, Steve Lianoglou, Thomas Sandmann, Meredith Calvert, Jung H Suh, Elliot Thomsen, Jason Dugas, Michelle E Pizzo, Sarah L DeVos, Timothy K Earr, Chia-Ching Lin, Sonnet Davis, Connie Ha, Amy Wing-Sze Leung, Hoang Nguyen, Roni Chau, Ernie Yulyaningsih, Isabel Lopez, Hilda Solanoy, Shababa T Masoud, Chun-Chi Liang, Karin Lin, Giuseppe Astarita, Nathalie Khoury, Joy Yu Zuchero, Robert G Thorne, Kevin Shen, Stephanie Miller, Jorge J Palop, Dylan Garceau, Michael Sasner, Jennifer D Whitesell, Julie A Harris, Selina Hummel, Johannes Gnörich, Karin Wind, Lea Kunze, Artem Zatcepin, Matthias Brendel, Michael Willem, Christian Haass, Daniel Barnett, Till S Zimmer, Anna G Orr, Kimberly Scearce-Levie, Joseph W Lewcock, Gilbert Di Paolo, and Pascal E Sanchez
Architecture of the outbred brown fat proteome defines regulators of metabolic physiology., Haopeng Xiao, Luiz H M Bozi, Yizhi Sun, Christopher L Riley, Vivek M. Philip, Mandy Chen, Jiaming Li, Tian Zhang, Evanna L Mills, Margo P Emont, Wenfei Sun, Anita Reddy, Ryan Garrity, Jiani Long, Tobias Becher, Laura Potano Vitas, Dina Laznik-Bogoslavski, Martha Ordonez, Xinyue Liu, Xiong Chen, Yun Wang, Weihai Liu, Nhien Tran, Yitong Liu, Yang Zhang, Aaron M Cypess, Andrew P White, Yuchen He, Rebecca Deng, Heiko Schöder, Joao A Paulo, Mark P Jedrychowski, Alexander S Banks, Yu-Hua Tseng, Paul Cohen, Linus T Tsai, Evan D Rosen, Samuel Klein, Maria Chondronikola, Fiona E McAllister, Nick Van Bruggen, Edward L Huttlin, Bruce M Spiegelman, Gary Churchill, Steven P Gygi, and Edward T Chouchani
Deletion of Gdf15 Reduces ER Stress-induced Beta-cell Apoptosis and Diabetes., Guanlan Xu, Junqin Chen, SeongHo Jo, Truman B Grayson, Sasanka Ramanadham, Akio Koizumi, Emily L Germain-Lee, Se-Jin Lee, and Anath Shalev
Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium., Manako Yamaguchi, Hirofumi Nakaoka, Kazuaki Suda, Kosuke Yoshihara, Tatsuya Ishiguro, Nozomi Yachida, Kyota Saito, Haruka Ueda, Kentaro Sugino, Yutaro Mori, Kaoru Yamawaki, Ryo Tamura, Sundaramoorthy Revathidevi, Teiichi Motoyama, Kazuki Tainaka, Roel G W Verhaak, Ituro Inoue, and Takayuki Enomoto
PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology., Shankai Yan, Ling Luo, Po-Ting Lai, Daniel Veltri, Andrew J Oler, Sandhya Xirasagar, Rajarshi Ghosh, Morgan Similuk, Peter N Robinson, and Zhiyong Lu
Studying extrachromosomal DNA with the ecTag method., Eunhee Yi
Extrachromosomal DNA amplifications in cancer., Eunhee Yi, Rocío Chamorro González, Anton G Henssen, and Roel G W Verhaak
Live-Cell Imaging Shows Uneven Segregation of Extrachromosomal DNA Elements and Transcriptionally Active Extrachromosomal DNA Hubs in Cancer., Eunhee Yi, Amit D Gujar, Molly Guthrie, Hoon Kim, Dacheng Zhao, Kevin C Johnson, Samirkumar B Amin, Megan L Costa, Qianru Yu, Sunit Das, Nathaniel L. Jillette, Patricia A Clow, Albert W Cheng, and Roel G W Verhaak
Genetic quality: a complex issue for experimental study reproducibility., Atsushi Yoshiki, Gregory Ballard, and Ana V Perez
Distinct miRNAs associated with various clinical presentations of SARS-CoV-2 infection., Qiqi Zeng, Xin Qi, Junpeng Ma, Fang Hu, Xiaorui Wang, Hongyu Qin, Mengyang Li, Shaoxin Huang, Yong Yang, Yixin Li, Han Bai, Meng Jiang, Doudou Ren, Ye Kang, Yang Zhao, Xiaobei Chen, Xi Ding, Di Ye, Yankui Wang, Jianguo Jiang, Dong Li, Xi Chen, Ke Hu, Binghong Zhang, Bingyin Shi, and Chengsheng Zhang
Intermittent fasting and caloric restriction interact with genetics to shape physiological health in mice., Guozhu Zhang, Andrew Deighan, Anil Raj, Laura Robinson, Hannah J Donato, Gaven Garland, Mackenzie Leland, Baby Martin-McNulty, Ganesh A Kolumam, Johannes Riegler, Adam Freund, Kevin M Wright, and Gary A Churchill
Causes of death and conditional survival estimates of long-term lung cancer survivors., Qun Zhang, Yuan Dai, Hongda Liu, Wenkui Sun, Yuming Huang, Zheng Gong, Shanlin Dai, Hui Kong, and Weiping Xie
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity, Sai Zhang, Johnathan Cooper-Knock, Annika K. Weimer, Minyi Shi, Lina Kozhaya, Derya Unutmaz, Calum Harvey, Thomas H. Julian, Simone Furini, Elisa Frullanti, Francesca Fava, Alessandra Renieri, Peng Gao, Xiaotao Shen, Ilia Sarah Timpanaro, Kevin P. Kenna, J Kenneth Baillie, Mark M. Davis, Philip S. Tsao, and Michael P. Snyder
Lineage-coupled clonal capture identifies clonal evolution mechanisms and vulnerabilities of BRAF, Ze-Yan Zhang, Yingwen Ding, Ravesanker Ezhilarasan, Tenzin Lhakhang, Qianghu Wang, Jie Yang, Aram S Modrek, Hua Zhang, Aristotelis Tsirigos, Andrew Futreal, Giulio F Draetta, Roel G W Verhaak, and Erik P Sulman
SMN protein is required throughout life to prevent spinal muscular atrophy disease progression., Xin Zhao, Zhihua Feng, Nicole Risher, Anna Mollin, Josephine Sheedy, Karen K Y Ling, Jana Narasimhan, Amal Dakka, John D Baird, Hasane Ratni, Cathleen Lutz, Karen S Chen, Nikolai A Naryshkin, Chien-Ping Ko, Ellen Welch, Friedrich Metzger, and Marla Weetall
Molecular Mechanisms of ARID5B-Mediated Genetic Susceptibility to Acute Lymphoblastic Leukemia., Xujie Zhao, Maoxiang Qian, Charnise Goodings, Yang Zhang, Wenjian Yang, Ping Wang, Beisi Xu, Cheng Tian, Ching-Hon Pui, Stephen P Hunger, Elizabeth A Raetz, Meenakshi Devidas, Mary V Relling, Mignon L Loh, Daniel Savic, Chunliang Li, and Jun J Yang
Epigenetic activation of the FLT3 gene by ZNF384 fusion confers a therapeutic susceptibility in acute lymphoblastic leukemia., Xujie Zhao, Ping Wang, Jonathan D Diedrich, Brandon Smart, Noemi Reyes, Satoshi Yoshimura, Jingliao Zhang, Wentao Yang, Kelly Barnett, Beisi Xu, Zhenhua Li, Xin Huang, Jiyang Yu, Kristine Crews, Allen Eng Juh Yeoh, Marina Konopleva, Chia-Lin Wei, Ching-Hon Pui, Daniel Savic, and Jun J Yang
gom1 Mutant Mice as a Model of Otitis Media, Tihua Zheng, Wenyi Huang, Heping Yu, Bo Hua Hu, Peter Song, Christopher McCarty, Lu Lu, Joseph Jaster, Ge Jin, Yan Zhang, and Qing Yin Zheng
Exploratory studies of oral and fecal microbiome in healthy human aging., Xin Zhou, Baohong Wang, Patrick C Demkowicz, Jethro Johnson, Yanfei Chen, Daniel Spakowicz, Yanjiao Zhou, Yair Dorsett, Lei Chen, Erica Sodergren, George A Kuchel, and George M. Weinstock
JACKIE: Fast Enumeration of Genome-Wide Single- and Multicopy CRISPR Target Sites and Their Off-Target Numbers., Jacqueline Jufen Zhu and Albert Cheng