Submissions from 2025
Antisense oligonucleotide-mediated TRA2β poison exon inclusion induces the expression of a lncRNA with anti-tumor effects., Nathan Leclair, Mattia Brugiolo, SungHee Park, Maeva Devoucoux, Laura M Urbanski, Brittany Lynn Angarola, Marina Yurieva, and Olga Anczuków
LONP1 regulation of mitochondrial protein folding provides insight into beta cell failure in type 2 diabetes., Jin Li, Yamei Deng, Marie Gasser, Jie Zhu, Emily M Walker, Vaibhav Sidarala, Emma C Reck, Dre L Hubers, Mabelle B Pasmooij, Chun-Shik Shin, Khushdeep Bandesh, Efthymios Motakis, Siddhi Nargund, Romy Kursawe, Venkatesha Basrur, Alexey I Nesvizhskii, Michael L. Stitzel, David C Chan, Guy A Rutter, and Scott A Soleimanpour
Gut metagenomes reveal interactions between dietary restriction, ageing and the microbiome in genetically diverse mice., Lev Litichevskiy, Maya Considine, Jasleen Gill, Vasuprada Shandar, Timothy O Cox, Hélène C Descamps, Kevin M Wright, Kevin R Amses, Lenka Dohnalová, Megan J Liou, Monika Tetlak, Mario R Galindo-Fiallos, Andrea C Wong, Patrick Lundgren, Junwon Kim, Giulia T Uhr, Ryan J Rahman, Sydney Mason, Carter Merenstein, Frederic D Bushman, Anil Raj, Fiona Harding, Zhenghao Chen, G V Prateek, Martin Mullis, Andrew Deighan, Laura Robinson, Ceylan Tanes, Kyle Bittinger, Meenakshi Chakraborty, Ami S Bhatt, Hongzhe Li, Ian Barnett, Emily R Davenport, Karl W Broman, Maayan Levy, Robert L Cohen, David Botstein, Adam Freund, Andrea Di Francesco, Gary Churchill, Mingyao Li, and Christoph A Thaiss
HAND1, partially mediated through ape-specific LTR binding, is essential for human extra-embryonic mesenchyme derivation from iPSCs., Zukai Liu, Yuliana Tan, William F Flynn, Lili Sun, Ponthip Pratumkaew, Juliana Alcoforado Diniz, Nélio A J Oliveira, Justin A McDonough, William C Skarnes, and Paul Robson
Complex genetic variation in nearly complete human genomes., Glennis A Logsdon, Peter Ebert, Peter A Audano, Mark Loftus, David Porubsky, Jana Ebler, Feyza Yilmaz, Pille Hallast, Timofey Prodanov, DongAhn Yoo, Carolyn Paisie, William T Harvey, Xuefang Zhao, Gianni V Martino, Mir Henglin, Katherine M Munson, Keon Rabbani, Chen-Shan Chin, Bida Gu, Hufsah Ashraf, Stephan Scholz, Olanrewaju Austine-Orimoloye, Parithi Balachandran, Marc Jan Bonder, Haoyu Cheng, Zechen Chong, Jonathan Crabtree, Mark Gerstein, Lisbeth A Guethlein, Patrick Hasenfeld, Glenn Hickey, Kendra Hoekzema, Sarah E Hunt, Matthew Jensen, Yunzhe Jiang, Sergey Koren, Youngjun Kwon, Chong Li, Heng Li, Jiaqi Li, Paul J Norman, Keisuke K Oshima, Benedict Paten, Adam M Phillippy, Nicholas R Pollock, Tobias Rausch, Mikko Rautiainen, Yuwei Song, Arda Söylev, Arvis Sulovari, Likhitha Surapaneni, Vasiliki Tsapalou, Weichen Zhou, Ying Zhou, Qihui Zhu, Michael C Zody, Ryan E Mills, Scott E Devine, Xinghua Shi, Michael E Talkowski, Mark J P Chaisson, Alexander T Dilthey, Miriam K Konkel, Jan O Korbel, Charles Lee, Christine R Beck, Evan E Eichler, and Tobias Marschall
Predicting the impact of rare variants on RNA splicing in CAGI6., Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, Andrew G L Douglas, David J Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Danis, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Yuchen Chang, Richard D Bagnall, Stephen M Mount, Brynja Matthiasardottir, Chiaofeng Lin, Thomas van Overeem Hansen, Raphael Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac, and Diana Baralle
The impact of co-housing on murine aging studies., Alison Luciano and Gary Churchill
The impact of co-housing on murine aging studies., Alison Luciano and Gary Churchill
The 2023 medical genetics workforce in the United States., Megan Lyon, Deborah Maiese, Miriam G Blitzer, Rhonda West, Vivian Pan, Cinthya Zepeda Mendoza, Laurie M Connors, Beth Ogata, Erin MacLeod, Nguyen Park, Marci K Sontag, Molly Caisse, Mathew J Edick, Sylvia Mann, Kunal Sanghavi, Joann Bodurtha, and Workgroup NCCMGW
Necrosis drives susceptibility to Mycobacterium tuberculosis in Polg(D257A) mutator mice, C J Mabry, C G Weindel, L W Stranahan, Jordyn J VanPortfliet, J R Davis, E L Martinez, A Phillip West, K L Patrick, and R O Watson
Genetic context modulates aging and degeneration in the murine retina., Olivia J Marola, Michael MacLean, Travis L Cossette, Cory A Diemler, Amanda A Hewes, Alaina M Reagan, Jonathan Nyandu Kanyinda, Daniel A Skelly, and Gareth R Howell
Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons., Mayra Martinez-Sanchez, William C Skarnes, Ashish Jain, Sampath Vemula, Liang Sun, Shira Rockowitz, and Mary C Whitman
The Unified Phenotype Ontology : a framework for cross-species integrative phenomics., Nicolas Matentzoglu, Susan M. Bello, Ray Stefancsik, Sarah M Alghamdi, Anna V Anagnostopoulos, James P Balhoff, Meghan A Balk, Yvonne M Bradford, Yasemin Bridges, Tiffany J Callahan, Harry Caufield, Alayne Cuzick, Leigh Carmody, Anita R Caron, Vinicius de Souza, Stacia R Engel, Petra Fey, Malcolm Fisher, Sarah Gehrke, Christian Grove, Peter Hansen, Nomi L Harris, Midori A Harris, Laura Harris, Arwa Ibrahim, Julius O B Jacobsen, Sebastian Köhler, Julie A McMurry, Violeta Munoz-Fuentes, Monica C Munoz-Torres, Helen Parkinson, Zoë M Pendlington, Clare Pilgrim, Sofia M C Robb, Peter N Robinson, James Seager, Erik Segerdell, Damian Smedley, Elliot Sollis, Sabrina Toro, Nicole Vasilevsky, Valerie Wood, Melissa A Haendel, Christopher J Mungall, James A McLaughlin, and David Osumi-Sutherland
Innovative strategies for the discovery of new drugs against androgenetic alopecia., Kevin J McElwee and John P Sundberg
A New Targeted Transgenic Mouse Line for the Study of Protocadherin γC4., Cathy M McLeod, Camille M Hanes, Leah C Fuller, Samjhana Bhandari, Hannah G Lanthier, Robert W. Burgess, Joshua A Weiner, and Andrew M Garrett
Alpha-smooth muscle actin-expressing dermal sheath cells are a major cellular contributor to heterotopic subcutaneous ossifications in a mouse model of Albright hereditary osteodystrophy., Patrick McMullan, Peter Maye, Sierra H Root, Qingfen Yang, Sarah Edie, David Rowe, Ivo Kalajzic, and Emily L Germain-Lee
Increased longevity of circulating human IgG in an NSG Fc gamma receptor-1 deficient humanized mouse model., Hannah R Megathlin, Lisa Burzenski, Michael A Brehm, Dale L Greiner, Sathy Balu-Iyer, and Leonard D. Shultz
Introducing "Identification Probability" for Automated and Transferable Assessment of Metabolite Identification Confidence in Metabolomics and Related Studies., Thomas O Metz, Christine H Chang, Vasuk Gautam, Afia Anjum, Siyang Tian, Fei Wang, Sean M Colby, Jamie R Nunez, Madison R Blumer, Arthur S Edison, Oliver Fiehn, Dean P Jones, Shuzhao Li, Edward T Morgan, Gary J Patti, Dylan H Ross, Madelyn R Shapiro, Antony J Williams, and David S Wishart
Rapid changes in plasma corticosterone and medial amygdala transcriptome profiles during social status change reveal molecular pathways associated with a major life history transition in mouse dominance hierarchies., Tyler M Milewski, Won Lee, Rebecca L Young, Hans A Hofmann, and James P Curley
Integrating exposomics into biomedicine., Gary W Miller and Banbury Exposomics Consortium
Single-cell and bulk transcriptional profiling of mouse ovaries reveals novel genes and pathways associated with DNA damage response in oocytes., Monique Mills, Chihiro Emori, Parveen Kumar, Zachary Boucher, Joshy George, and Ewelina Bolcun-Filas
A Framework for Strengthening The Quantitative Skills/Reasoning Support Ecosystem at Small Liberal Arts Colleges, Laura J. Muller and Melissa Eblen-Zayas
Analysis of lifespan across diversity outbred mouse studies identifies multiple longevity-associated loci., Martin N Mullis, Kevin M Wright, Anil Raj, Daniel M Gatti, Peter C. Reifsnyder, Kevin Flurkey, Jonathan R Archer, Laura Robinson, Andrea Di Francesco, Karen L. Svenson, Ron Korstanje, David E Harrison, J Graham Ruby, and Gary Churchill
Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease., Kiran Musunuru, Sarah A Grandinette, Xiao Wang, Taylor R Hudson, Kevin Briseno, Anne Marie Berry, Julia L Hacker, Alvin Hsu, Rachel A Silverstein, Logan T Hille, Aysel N Ogul, Nancy A Robinson-Garvin, Juliana C Small, Sarah McCague, Samantha M Burke, Christina M Wright, Sarah Bick, Venkata Indurthi, Shweta Sharma, Michael Jepperson, Christopher A Vakulskas, Michael Collingwood, Katie Keogh, Ashley Jacobi, Morgan Sturgeon, Christian Brommel, Ellen Schmaljohn, Gavin Kurgan, Thomas Osborne, He Zhang, Kyle Kinney, Garrett Rettig, Christopher J Barbosa, Sean C Semple, Ying K Tam, Cathleen Lutz, Lindsey A George, Benjamin P Kleinstiver, David R Liu, Kim Ng, Sadik H Kassim, Petros Giannikopoulos, Mohamad-Gabriel Alameh, Fyodor D Urnov, and Rebecca C Ahrens-Nicklas
An epithelial cell culture model for sturgeon integument responds sensitively to 2,3,7,8-tetrachlorodibenzo-p-dioxin exposure., Sumi Nechat, Melina Shadi, Andrea D Schreier, Nann A Fangue, John P Sundberg, and Robert H Rice
SARS-CoV-2 induced immune perturbations in infants vary with disease severity and differ from adults' responses., Djamel Nehar-Belaid, Asunción Mejías, Zhaohui Xu, Radu Marches, Rushil Yerrabelli, Guo Chen, Sara Mertz, Fang Ye, Pablo J Sánchez, John S Tsang, Teresa Aydillo, Lisa Miorin, Anastasija Cupic, Adolfo García-Sastre, Duygu Ucar, Jacques Banchereau, Virginia Pascual, and Octavio Ramilo
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita., Shahrzad Nematollahi, Reggie C Hamdy, Harold van Bosse, Joyce Li, Daniel Blanshay-Goldberg, Johanna I P de Vries, Klaus Dieterich, Isabel Filges, Tanya Bedard, Melissa Haendel, Monica Munoz Torres, Peter N Robinson, and Noémi Dahan-Oliel
Anapc5 and Anapc7 as genetic modifiers of KIF18A function in fertility and mitotic progression., Carleigh Nesbit, Whitney Martin, Anne M Czechanski, Candice Byers, Narayanan Raghupathy, Ardian Ferraj, Jason Stumpff, and Laura G Reinholdt
Alternative splicing of transposable elements in human breast cancer., Alex V Nesta, Diogo F T Veiga, Jacques Banchereau, Olga Anczuków, and Christine R Beck
Replacing non-biomedical concepts improves embedding of biomedical concepts., Enock Niyonkuru, Mauricio Soto Gomez, Elena Casarighi, Stephan Antogiovanni, Hannah Blau, Justin T Reese, Giorgio Valentini, and Peter N Robinson
The multilayered transcriptional architecture of glioblastoma ecosystems., Masashi Nomura, Avishay Spitzer, Kevin C Johnson, Luciano Garofano, Djamel Nehar-Belaid, Noam Galili Darnell, Alissa C Greenwald, Lillian Bussema, Young Taek Oh, Frederick S Varn, Fulvio D'Angelo, Simon Gritsch, Kevin J Anderson, Simona Migliozzi, L Nicolas Gonzalez Castro, Tamrin ChowdhFury, Nicolas Robine, Catherine Reeves, Jong Bae Park, Anuja Lipsa, Frank Hertel, Anna Golebiewska, Simone P Niclou, Labeeba Nusrat, Sorcha Kellet, Sunit Das, Hyo Eun Moon, Sun Ha Paek, Franck Bielle, Alice Laurenge, Anna Luisa Di Stefano, Bertrand Mathon, Alberto Picca, Marc Sanson, Shota Tanaka, Nobuhito Saito, David M Ashley, Stephen T Keir, Keith L Ligon, Jason T Huse, W K Alfred Yung, Anna Lasorella, Roel G W Verhaak, Antonio Iavarone, Mario L Suvà, and Itay Tirosh
Health Professionals' Preferences for Next-Generation Sequencing in the Diagnosis of Suspected Genetic Disorders in the Paediatric Population., Mario Cesare Nurchis, Gerardo Altamura, Gian Marco Raspolini, Enrico Capobianco, Luca Salmasi, and Gianfranco Damiani
The Missing Half: Why Sex Differences Matter in Alzheimer's Disease., Kristen M S O'Connell
Spatiotemporal metabolic mapping of ex-situ preserved hearts subjected to dialysis by integration of bio-SPME sampling with non-targeted metabolipidomic profiling., Mariola Olkowicz, Frank Yu, Juglans Souto Alvarez, Roberto Vanin Pinto Ribeiro, Roizar Rosales, Liming Xin, Miao Yu, Karol Jaroch, Mitchell Brady Adamson, Ved Bissoondath, Filio Billia, Mitesh Vallabh Badiwala, and Janusz Pawliszyn
Muscle-derived myostatin is a major endocrine driver of follicle-stimulating hormone synthesis., Luisina Ongaro, Xiang Zhou, Ying Wang, Hailey Schultz, Ziyue Zhou, Evan R S Buddle, Emilie Brûlé, Yeu-Farn Lin, Gauthier Schang, Adam Hagg, Roselyne Castonguay, Yewei Liu, Gloria H Su, Nabil G Seidah, Kevin C Ray, Seth J Karp, Ulrich Boehm, Frederique Ruf-Zamojski, Stuart C Sealfon, Kelly L Walton, Se-Jin Lee, and Daniel J Bernard
Hippocampal-prefrontal functional neural networks in a rat model of fragile X syndrome are poorly organized with limited resiliency., Mohamed Ouardouz, Patrick Jasinski, Mohamed Khalife, J Matthew Mahoney, Amanda E Hernan, and Rod C Scott
Repeated Measures Latent Dirichlet Allocation for Longitudinal Microbiome Analysis, Namitha Viona Pais, Nalini Ravishanker, Sanguthevar Rajasekaran, and George M. Weinstock
Assessment of Antimicrobial Therapy in Eradicating Chlamydia muridarum in Research Mice: Immune Status and Its Impact on Outcomes., Michael B Palillo, Sebastian E Carrasco, Noah Mishkin, Jack A Palillo, Denise B Lynch, Samira Lawton, Mert Aydin, Anthony J Mourino, Neil S Lipman, and Rodolfo J Ricart Arbona
TET2-Mutant Clonal Hematopoiesis Promotes Heart Failure With Preserved Ejection Fraction., Ambarish Pandey, Toby Thomas, Yuanyuan Ji, Benjamin Kroger, Peter Carlsgaard, Camila I Irion, Fatma Kalkan, Matthew Segar, Vinayak Subramanian, Antoni Bayés-Genís, Albert Son, Kira Young, Jennifer J. Trowbridge, Naveen Premnath, Nan Jiang, Daniel Daou, Wenhuo Hu, Sarah A Ware, Dan Tong, and Stephen S Chung
Genetic variation modulates susceptibility to aberrant DNA hypomethylation and imprint deregulation in naive pluripotent stem cells., C Parikh, R A Glenn, Y Shi, K Chatterjee, K Kasliwal, Emily Swanzey, S Singer, S C Do, Y Zhan, Y Furuta, M Tahiliani, E Apostolou, A Polyzos, R Koche, J G Mezey, T Vierbuchen, and M Stadtfeld
Activin E is a new guardian protecting against hepatic steatosis via inhibiting lipolysis in white adipose tissue., Shi-Young Park, Yoonil Cho, Sae-Mi Son, Jang Ho Hur, Yeongmin Kim, Hyunhee Oh, Hui-Young Lee, Sungwon Jung, Sanghee Park, Il-Young Kim, Se-Jin Lee, and Cheol Soo Choi
CT-derived fat density as a predictor of cause-specific mortality in patients undergoing TAVI: Findings from a large registry subanalysis., Matej Pekař, Piotr Branny, Radim Špaček, Otakar Jiravský, Jan Novák, Jakub Balušík, Daniel Daniš, Jan Hečko, Marek Kantor, Bogna Jiravská Godula, Lubomír Blaha, Radek Neuwirth, and Martin Šimek
STAMP: Single-cell transcriptomics analysis and multimodal profiling through imaging., Emanuele Pitino, Anna Pascual-Reguant, Felipe Segato-Dezem, Kellie Wise, Irepan Salvador-Martinez, Helena Lucia Crowell, Maycon Marção, Max Ruiz, Elise T Courtois, William F Flynn, Santhosh Sivajothi, Emily Soja, Ginevra Caratù, German Atzin Mora-Roldan, B Kate Dredge, Yutian Liu, Hannah Chasteen, Monika Mohenska, Juan C Nieto, Raymond K H Yip, Ruvimbo D Mishi, José M Polo, Mohmed Abdalfttah, Adrienne E Sullivan, Jasmine T Plummer, Holger Heyn, and Luciano G Martelotto
Biological databases in the age of generative artificial intelligence., Mihai Pop, Teresa K Attwood, Judith A. Blake, Philip E Bourne, Ana Conesa, Terry Gaasterland, Lawrence Hunter, Carl Kingsford, Oliver Kohlbacher, Thomas Lengauer, Scott Markel, Yves Moreau, William S Noble, Christine Orengo, B F Francis Ouellette, Laxmi Parida, Natasa Przulj, Teresa M Przytycka, Shoba Ranganathan, Russell Schwartz, Alfonso Valencia, and Tandy Warnow
Evaluating the feasibility of gene replacement strategies to treat MTRFR deficiency., Samia L Pratt, Mariana Zarate-Mendez, Lidiia Koludarova, Sonja Jansson, Mikko Airavaara, Irena Hlushchuk, David Coleman, Caleb Heffner, Rita Horvath, Brendan J Battersby, and Robert W. Burgess
Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency., Maximiliano Presa, Rachel M Bailey, Somdatta Ray, Lauren Bailey, Saurabh Tata, Tara Murphy, Pierre-Alexandre Piec, Harold Combs, Steven J Gray, and Cathleen Lutz
Comparison of Lysis and Amplification Methodologies for Optimal 16S rRNA Gene Profiling for Human and Mouse Microbiome Studies., Farzaneh Rastegari, Mark Driscoll, Jesse D Riordan, Joseph H Nadeau, Jethro Johnson, and George M. Weinstock
Biological modifications of the immune response to COVID-19 vaccine in patients treated with rituximab and immune checkpoint inhibitors., Francesco Ravera, Martina Dameri, Isabella Lombardo, Mario Stabile, Pamela Becherini, Neri Fallani, Camilla Scarsi, Benedetta Cigolini, Giusy Gentilcore, Alexander Domnich, Lodovica Zullo, Eugenia Cella, Giulia Francia, Eugenia Montanari, Andrea Orsi, Andrea Bellodi, Fabio Ferrando, Darawan Rinchai, Filippo Ballerini, Bianca Bruzzone, Damien Chaussabel, Jean-Charles Grivel, Carlo Genova, Roberto Massimo Lemoli, Davide Bedognetti, Alberto Ballestrero, Lorenzo Ferrando, and Gabriele Zoppoli
Chromatin State Maps of Blood Pressure-Relevant Renal Segments Reveal Potential Regulatory Role for SNPs., Atrayee Ray, Chun Yang, Cary Stelloh, Monika Tutaj, Pengyuan Liu, Yong Liu, Qiongzi Qiu, Paul L Auer, Chien-Wei Lin, Michael E Widlansky, Aron M Geurts, Allen W Cowley, Mingyu Liang, Anne E Kwitek, Andrew S Greene, and Sridhar Rao
Retinal vascular dysfunction in the Mthfr(677C>T) mouse model of cerebrovascular disease, Alaina M Reagan, Michael MacLean, Travis L Cossette, and Gareth R Howell
The rare-to-common disease journey: a winding road to new therapies., Laura G Reinholdt, Elissa J Chesler, Martin Pera, and Nadia Rosenthal
Arginine metabolism is a biomarker of red blood cell and human aging., Julie A Reisz, Eric J Earley, Travis Nemkov, Alicia Key, Daniel Stephenson, Gregory R Keele, Monika Dzieciatkowska, Steven L Spitalnik, Eldad A Hod, Steven Kleinman, Nareg H Roubinian, Mark T Gladwin, Kirk C Hansen, Philip J Norris, Michael P Busch, James C Zimring, Gary Churchill, Grier P Page, and Angelo D'Alessandro
SARM1 Inhibition in Three Mouse Models of Charcot-Marie-Tooth Disease., Alaura D Rice, Abby Tadenev, Timothy J Hines, Jonathan R Funke, and Robert W. Burgess
Spatiotemporal Profiling Defines Persistence and Resistance Dynamics during Targeted Treatment of Melanoma., Jill C Rubinstein, Sergii Domanskyi, Todd B Sheridan, Brian J Sanderson, SungHee Park, Jessica Kaster, Haiyin Li, Olga Anczuków, Meenhard Herlyn, and Jeffrey Chuang
Exploring the composition of placental microbiome and its potential origin in preterm birth., Marwa Saadaoui, Mohamed Nadhir Djekidel, Selvasankar Murugesan, Manoj Kumar, Duaa Elhag, Parul Singh, Basirudeen Syed Ahamed Kabeer, Alexandra Katharina Marr, Tomoshige Kino, Tobias Brummaier, Rose McGready, François Nosten, Damien Chaussabel, Annalisa Terranegra, and Souhaila Al Khodor
Machine vision-based frailty assessment for genetically diverse mice., Gautam S Sabnis, Gary Churchill, and Vivek Kumar
Machine vision-based frailty assessment for genetically diverse mice., Gautam S Sabnis, Gary Churchill, and Vivek Kumar
Chapter 29 - The informatics of developmental phenotypes, Paul N. Schofield, Robert Hoehndorf, Georgios V. Gkoutos, and Cynthia Smith
Merritt-Putnam Symposium | Developmental and Epileptic Encephalopathies-Current Concepts and Novel Approaches., Rodney C Scott, Jenny Hsieh, Amy McTague, J Matthew Mahoney, and Catherine A Christian-Hinman
Mechanisms of tandem duplication in the cancer genome., Ralph Scully, Dominik Glodzik, Francesca Menghi, Edison Liu, and Cheng-Zhong Zhang
CASCADES, a novel SOX2 super-enhancer-associated long noncoding RNA, regulates cancer stem cell specification and differentiation in glioblastoma., Uswa Shahzad, Marina Nikolopoulos, Christopher Li, Michael Johnston, Jenny J Wang, Nesrin Sabha, Frederick S Varn, Alexandra Riemenschneider, Stacey Krumholtz, Pranathi Meda Krishnamurthy, Christian A Smith, Jason Karamchandani, Jonathan K Watts, Roel G W Verhaak, Marco Gallo, James T Rutka, and Sunit Das
Structures of ATP-binding cassette transporter ABCC1 reveal the molecular basis of cyclic dinucleotide cGAMP export., Omkar Shinde, Joshua A Boyer, Stephanie Cambier, Jordyn J VanPortfliet, Xuewu Sui, Gaya P Yadav, Elizabeth G Viverette, Mario J Borgnia, A Phillip West, Qi Zhang, Daniel B Stetson, and Pingwei Li
High-Throughput Echocardiography-Guided Induction of Myocardial Ischemia/Reperfusion in Mice., Florian Sicklinger, Niklas Hartmann, Attila Kovacs, Carla Weinheimer, Jess Nigro, Tobias Thiemann, Junedh M Amrute, David Schumacher, Moritz P Kornadt, Laura M Wienecke, Lennart Rompel, Johannes Fischer, John F Bachman, Olivia Bedard, Shibali Das, Tim C Kuhn, Mirko Völkers, Ralf P Brandes, Rafael Kramann, Nadia Rosenthal, Norbert Frey, Kory J Lavine, and Florian Leuschner
Mapping the genetic landscape establishing a tumor immune microenvironment favorable for anti-PD-1 response., Daniel A Skelly, John P Graham, Mingshan Cheng, Mayuko Furuta, Andrew Walter, Thomas A Stoklasek, Hongyuan Yang, Timothy M Stearns, Olivier Poirion, Ji-Gang Zhang, Jessica D S Grassmann, Diane Luo, William F Flynn, Elise T Courtois, Chih-Hao Chang, David V. Serreze, Francesca Menghi, Laura G Reinholdt, and Edison Liu
In vivo prime editing rescues alternating hemiplegia of childhood in mice., Alexander A Sousa, Markus Terrey, Holt A Sakai, Christine Q Simmons, Elena Arystarkhova, Natalia S Morsci, Laura C. Anderson, Jun Xie, Fabian Suri-Payer, Linda C Laux, Emmanuel Roze, Sylvie Forlani, Guangping Gao, Simon Frost, Nina Frost, Kathleen J Sweadner, Alfred L George, Cathleen Lutz, and David R Liu
Pluripotent cell states and fates in human embryo models., Berna Sozen, Patrick P L Tam, and Martin Pera
Deciphering the longitudinal trajectories of glioblastoma ecosystems by integrative single-cell genomics., Avishay Spitzer, Kevin C Johnson, Masashi Nomura, Luciano Garofano, Djamel Nehar-Belaid, Noam Galili Darnell, Alissa C Greenwald, Lillian Bussema, Young Taek Oh, Frederick S Varn, Fulvio D'Angelo, Simon Gritsch, Kevin J Anderson, Simona Migliozzi, L Nicolas Gonzalez Castro, Tamrin Chowdhury, Nicolas Robine, Catherine Reeves, Jong Bae Park, Anuja Lipsa, Frank Hertel, Anna Golebiewska, Simone P Niclou, Labeeba Nusrat, Sorcha Kellet, Sunit Das, Hyo-Eun Moon, Sun Ha Paek, Franck Bielle, Alice Laurenge, Anna Luisa Di Stefano, Bertrand Mathon, Alberto Picca, Marc Sanson, Shota Tanaka, Nobuhito Saito, David M Ashley, Stephen T Keir, Keith L Ligon, Jason T Huse, W K Alfred Yung, Anna Lasorella, Antonio Iavarone, Roel G W Verhaak, Itay Tirosh, and Mario L Suvà
Your Blood is Out for Delivery: Considerations of Shipping Time and Temperature on Degradation of RNA from Stabilized Whole Blood., Filip Stefanovic, Lauren G Brown, James MacDonald, Theo Bammler, Darawan Rinchai, Serena Nguyen, Yuting Zeng, Victoria Shinkawa, Karen Adams, Damien Chaussabel, Erwin Berthier, Amanda J Haack, and Ashleigh B Theberge
Extravillous trophoblasts reverse the decidualization induced increase in matrix production by secreting TGFβ antagonists Emilin-1 and Gremlin-1., Yasir Suhail, Yamin Liu, Junaid Afzal, Wenqiang Du, Paul Robson, Ashkan Novin, Ramalakshmi Ramasamy, and Kshitiz
Multiomic Network Analysis Identifies Dysregulated Neurobiological Pathways in Opioid Addiction., Kyle A Sullivan, David Kainer, Matthew Lane, Mikaela Cashman, J Izaak Miller, Michael R Garvin, Alice Townsend, Bryan C Quach, Caryn Willis, Peter Kruse, Nathan C Gaddis, Ravi Mathur, Olivia Corradin, Brion S Maher, Peter C Scacheri, Sandra Sanchez-Roige, Abraham A Palmer, Vanessa Troiani, Elissa J Chesler, Rachel L Kember, Henry R Kranzler, Amy C Justice, Ke Xu, Bradley E Aouizerat, Dana B Hancock, Eric O Johnson, Daniel A Jacobson, and V. A. Million Veteran Program.
A Multimodal Therapeutic Strategy for Inflammatory Bowel Disease Using MicroRNA-146a Mimic Encapsulated in Lipid Nanoparticles., Kanika Suri, Vishnu Hosur, Rohit Panchakshari, and Mansoor M Amiji
From gene modules to gene markers: an integrated AI-human approach selects CD38 to represent plasma cell-associated transcriptional signatures., Basirudeen Syed Ahamed Kabeer, Bishesh Subba, Darawan Rinchai, Mohammed Toufiq, Taushif Khan, Marina Yurieva, and Damien Chaussabel
A feasibility study of enzymatic methylation sequencing of cell-free DNA from cerebrospinal fluid of pediatric central nervous system tumor patients for molecular classification., Aaron M Taylor, Jody T Lombardi, Areeba Patel, Ariella Tamariz, Jonathan Martin, Markus J Bookland, David S Hersh, Evan Cantor, Xianyuan Song, Felix Sahm, Patrick Ks Ng, Joanna J Gell, and Ching C Lau
Immunosuppressive Tumor Microenvironment of Osteosarcoma., Aaron M Taylor, Jianting Sheng, Patrick Ks Ng, Jeffrey M. Harder, Parveen Kumar, Ju Young Ahn, Yuliang Cao, Alissa M Dzis, Nathaniel L. Jillette, Andrew Goodspeed, Avery Bodlak, Qian Wu, Michael S Isakoff, Joshy George, Jessica D S Grassmann, Diane Luo, William F Flynn, Elise T Courtois, Paul Robson, Masanori Hayashi, Alini Trujillo Paolillo, Antonio Sergio Petrilli, Silvia Regina Caminada de Toledo, Fabiola Sara Balarezo, Adam D Lindsay, Bang Hoang, Stephen T C Wong, and Ching C Lau
Plot twist: TET2 clones save the brain., Maria Telpoukhovskaia and Jennifer J. Trowbridge
Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice., Markus Terrey, Georgii Krivoshein, Scott I Adamson, Elena Arystarkhova, Laura C. Anderson, John Szwec, Shelby McKee, Holly Jones, Sara Perkins, Vijay Selvam, Pierre-Alexandre Piec, Dweet Chhaya, Ari Dehn, Aamir Zuberi, Stephen A Murray, Natalia S Morsci, Kathleen J Sweadner, David A Knowles, Else A Tolner, Arn M J M van den Maagdenberg, and Cathleen Lutz
Targeting Ion Channels: Blockers Suppress Calcium Signals and Induce Cytotoxicity Across Medulloblastoma Cell Models., Darani Ashley Thammavongsa, Taylor N Jackvony, Markus J Bookland, and Min D Tang-Schomer
Absence of Glaucoma in Tg-MYOCY437H Mice of Diverse Genetic Backgrounds., Nicholas G Tolman, Marina Simón, Felicia A Juarez, Chi Zhang, Zhivka I Hristova, Tionna Ouellette, Michael A Sellarole, Wilhelmine N deVries, Christa Montgomery, and Simon W M John
The integrative genomic and functional immunological analyses of colorectal cancer initiating cells to modulate stemness properties and the susceptibility to immune responses., Issam Tout, Salim Bougarn, Mohammed Toufiq, Neha Gopinath, Ola Hussein, Abbirami Sathappan, Evonne Chin-Smith, Fazulur Rehaman, Rebecca Mathew, Lisa Mathew, Kun Wang, Li Liu, Abdulrahman Salhab, Oleksandr Soloviov, Sara Tomei, Waseem Hasan, Sahar Da'as, Yosra Bejaoui, Nady El Hajj, Karama Makni Maalej, Said Dermime, Kakil Rasul, Paolo Dellabona, Giulia Casorati, Alice Turdo, Matilde Todaro, Giorgio Stassi, Soldano Ferrone, Xinhui Wang, and Cristina Maccalli
Effective integration of multi-omics with prior knowledge to identify biomarkers via explainable graph neural networks., Rohit K Tripathy, Zachary Frohock, Hong Wang, Gregory Cary, Stephen Keegan, Gregory W. Carter, and Yi Li
Transcripts with high distal heritability mediate genetic effects on complex metabolic traits., Anna L. Tyler, J Matthew Mahoney, Mark P Keller, Candice N Baker, Margaret Gaca, Anuj Srivastava, Isabela Gerdes Gyuricza, Madeleine J Braun, Nadia Rosenthal, Alan D Attie, Gary Churchill, and Gregory W. Carter
Caspase-11 drives macrophage hyperinflammation in models of Polg-related mitochondrial disease., Jordyn J VanPortfliet, Yuanjiu Lei, Muthumeena Ramanathan, Camila Guerra Martinez, Jessica Wong, Tim J Stodola, Brian Hoffmann, Kathryn Pflug, Raquel Sitcheran, Stephen C. Kneeland, Stephen A Murray, Peter J McGuire, Carolyn L Cannon, and A Phillip West
Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes., Peter Vo, Denise M Imai-Leonard, Benjamin Yang, Andrew Briere, Andy Shao, M Isabel Casanova, David Adams, Takanori Amano, Oana Amarie, Zorana Berberovic, Lynette Bower, Robert E Braun, Steve Brown, Samantha Burrill, Soo Young Cho, Sharon Clementson-Mobbs, Abigail D'Souza, Mary Dickinson, Mohammad Eskandarian, Ann M Flenniken, Helmut Fuchs, Valerie Gailus-Durner, Jason Heaney, Yann Hérault, Martin Hrabe de Angelis, Chih-Wei Hsu, Shundan Jin, Russell Joynson, Yeon Kyung Kang, Haerim Kim, Hiroshi Masuya, Hamid Meziane, Stephen A Murray, Ki-Hoan Nam, Hyuna Noh, Lauryl M J Nutter, Marcela Palkova, Jan Prochazka, Miles Joseph Raishbrook, Fabrice Riet, Jennifer L Ryan, Jason Salazar, Zachery Seavey, John Richard Seavitt, Radislav Sedlacek, Mohammed Selloum, Kyoung Yul Seo, Je Kyung Seong, Hae-Sol Shin, Toshihiko Shiroishi, Michelle Stewart, Karen L. Svenson, Masaru Tamura, Heather Tolentino, Uchechukwu Udensi, Sara Wells, Jacqueline K White, Amelia M Willett, Janine M Wotton, Wolfgang Wurst, Atsushi Yoshiki, Louise Lanoue, K C Kent Lloyd, Brian C Leonard, Michel J Roux, Colin McKerlie, and Ala Moshiri
Retrograde mitochondrial signaling governs the identity and maturity of metabolic tissues., Emily M Walker, Gemma L Pearson, Nathan Lawlor, Ava M Stendahl, Anne Lietzke, Vaibhav Sidarala, Jie Zhu, Tracy Stromer, Emma C Reck, Jin Li, Elena Levi-D'Ancona, Mabelle B Pasmooij, Dre L Hubers, Aaron Renberg, Kawthar Mohamed, Vishal S Parekh, Irina X Zhang, Benjamin Thompson, Deqiang Zhang, Sarah A Ware, Leena Haataja, Nathan Qi, Stephen C J Parker, Peter Arvan, Lei Yin, Brett A Kaufman, Leslie S Satin, Lori Sussel, Michael L. Stitzel, and Scott A Soleimanpour
A comprehensive atlas of AAV tropism in the mouse., Christopher J Walkey, Kathy J. Snow, Jote Bulcha, Aaron R Cox, Alexa E Martinez, M Cecilia Ljungberg, Denise G Lanza, Marco De Giorgi, Marcel A Chuecos, Michele Alves-Bezerra, Carlos Flores Suarez, Sean M Hartig, Susan G Hilsenbeck, Chih-Wei Hsu, Ethan Saville, Yaned Gaitan, Jeff Duryea, Seth Hannigan, Mary E Dickinson, Oleg Mirochnitchenko, Dan Wang, Cathleen Lutz, Jason D Heaney, Guangping Gao, Stephen A Murray, and William R Lagor
Analysis of functional connectivity changes from childhood to old age: A study using HCP-D, HCP-YA, and HCP-A datasets., Yaotian Wang, Shuoran Li, Jie He, Lingyi Peng, Qiaochu Wang, Xu Zou, Dana L Tudorascu, David J Schaeffer, Lauren Schaeffer, Diego Szczupak, Jung Eun Park, Stacey J Sukoff Rizzo, Gregory W. Carter, Afonso C Silva, and Tingting Zhang
The CD123 antibody-drug conjugate pivekimab sunirine exerts profound activity in preclinical models of pediatric acute lymphoblastic leukemia., Ben Watts, Christopher M Smith, Kathryn Evans, Andrew J Gifford, Sara M A Mohamed, Stephen W Erickson, Eric J Earley, Steven Neuhauser, Timothy M Stearns, Vivek M. Philip, Jeffrey Chuang, Patrick A Zweidler-McKay, Sribalaji Lakshmikanthan, Emily L Jocoy, Carol J Bult, Beverly A Teicher, Malcolm A Smith, and Richard B Lock
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant., Elizabeth A Werren, Louisa Kalsner, Jessica M Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A Audano, Peter N Robinson, Mark D Adams, Melissa A Kelly, and Adam P Matson
Tipping the balance: innate and adaptive immunity in mitochondrial disease., A Phillip West and Peter J McGuire
AI-driven multi-omics modeling of myalgic encephalomyelitis/chronic fatigue syndrome., Ruoyun Xiong, Elizabeth Aiken, Ryan Caldwell, Suzanne D Vernon, Lina Kozhaya, Courtney Gunter, Lucinda Bateman, Derya Unutmaz, and Julia Oh
AI-driven multi-omics modeling of myalgic encephalomyelitis/chronic fatigue syndrome., Ruoyun Xiong, Elizabeth Aiken, Ryan Caldwell, Suzanne D Vernon, Lina Kozhaya, Courtney Gunter, Lucinda Bateman, Derya Unutmaz, and Julia Oh
AI-driven multi-omics modeling of myalgic encephalomyelitis/chronic fatigue syndrome., Ruoyun Xiong, Elizabeth Aiken, Ryan Caldwell, Suzanne D Vernon, Lina Kozhaya, Courtney Gunter, Lucinda Bateman, Derya Unutmaz, and Julia Oh
Physiological role and mechanisms of action for a long noncoding haplotype region., Hong Xue, Manoj K Mishra, Yong Liu, Pengyuan Liu, Michael Grzybowski, Rajan Pandey, Kristie Usa, Mark A Vanden Avond, Niharika Bala, Abdel A Alli, Allen W Cowley, Qiongzi Qiu, Andrew S Greene, Sridhar Rao, Caitlin C O'Meara, Aron M Geurts, and Mingyu Liang
Intracranial germ cell tumors: advancement in genomic diagnostics and the need for novel therapeutics., Kee Kiat Yeo, Joanna J Gell, Girish Dhall, and Ching C Lau
Complete sequencing of ape genomes., DongAhn Yoo, Arang Rhie, Prajna Hebbar, Francesca Antonacci, Glennis A Logsdon, Steven J Solar, Dmitry Antipov, Brandon D Pickett, Yana Safonova, Francesco Montinaro, Yanting Luo, Joanna Malukiewicz, Jessica M Storer, Jiadong Lin, Abigail N Sequeira, Riley J Mangan, Glenn Hickey, Graciela Monfort Anez, Parithi Balachandran, Anton Bankevich, Christine R Beck, Arjun Biddanda, Matthew Borchers, Gerard G Bouffard, Emry Brannan, Shelise Y Brooks, Lucia Carbone, Laura Carrel, Agnes P Chan, Juyun Crawford, Mark Diekhans, Eric Engelbrecht, Cedric Feschotte, Giulio Formenti, Gage H Garcia, Luciana de Gennaro, David Gilbert, Richard E Green, Andrea Guarracino, Ishaan Gupta, Diana Haddad, Junmin Han, Robert S Harris, Gabrielle A Hartley, William T Harvey, Michael Hiller, Kendra Hoekzema, Marlys L Houck, Hyeonsoo Jeong, Kaivan Kamali, Manolis Kellis, Bryce Kille, Chul Lee, Youngho Lee, William Lees, Alexandra P Lewis, Qiuhui Li, Mark Loftus, Yong Hwee Eddie Loh, Hailey Loucks, Jian Ma, Yafei Mao, Juan F I Martinez, Patrick Masterson, Rajiv C McCoy, Barbara McGrath, Sean McKinney, Britta S Meyer, Karen H Miga, Saswat K Mohanty, Katherine M Munson, Karol Pal, Matt Pennell, Pavel A Pevzner, David Porubsky, Tamara Potapova, Francisca R Ringeling, Joana L Rocha, Oliver A Ryder, Samuel Sacco, Swati Saha, Takayo Sasaki, Michael C Schatz, Nicholas J Schork, Cole Shanks, Linnéa Smeds, Dongmin R Son, Cynthia Steiner, Alexander P Sweeten, Michael G Tassia, Françoise Thibaud-Nissen, Edmundo Torres-González, Mihir Trivedi, Wenjie Wei, Julie Wertz, Muyu Yang, Panpan Zhang, Shilong Zhang, Yang Zhang, Zhenmiao Zhang, Sarah A Zhao, Yixin Zhu, Erich D Jarvis, Jennifer L Gerton, Iker Rivas-González, Benedict Paten, Zachary A Szpiech, Christian D Huber, Tobias L Lenz, Miriam K Konkel, Soojin V Yi, Stefan Canzar, Corey T Watson, Peter H Sudmant, Erin Molloy, Erik Garrison, Craig B Lowe, Mario Ventura, Rachel J O'Neill, Sergey Koren, Kateryna D Makova, Adam M Phillippy, and Evan E Eichler
Elevated mitochondrial membrane potential is a therapeutic vulnerability in Dnmt3a-mutant clonal hematopoiesis., Kira Young, Mohsen Hosseini, Jayna J Mistry, Claudia Morganti, Taylor S Mills, Xiurong Cai, Brandon T James, Griffin J Nye, Natalie R Fournier, Veronique Voisin, Ali Chegini, Aaron D Schimmer, Gary D Bader, Grace Egan, Marc R Mansour, Grant A Challen, Eric M Pietras, Kelsey H Fisher-Wellman, Keisuke Ito, Steven M Chan, and Jennifer J. Trowbridge
The BIM deletion polymorphism potentiates the survival of leukemia stem and progenitor cells and impairs response to targeted therapies., Mengge Yu, Giselle Sek Suan Nah, Vaidehi Krishnan, Fatin Nasha Bte Sulaimi, King Pan Ng, Chuqi Wang, Shruti Bhatt, Charles Chuah, David E. Bergstrom, and S Tiong Ong
Ethical Frameworks for Data-Driven Environmental Health Studies in the AI Era, Miao Yu, Mingliang Fang, and Bin Wang
Ethical Frameworks for Data-Driven Environmental Health Studies in the AI Era., Miao Yu, Mingliang Fang, and Bin Wang
mzrtsim: Raw Data Simulation for Reproducible Gas/Liquid Chromatography-Mass Spectrometry-Based Nontargeted Metabolomics Data Analysis., Miao Yu and Vivek M. Philip