Submissions from 2024
The mutant mouse resource and research center (MMRRC) consortium: the US-based public mouse repository system., Yuksel Agca, James Amos-Landgraf, Renee Araiza, Jennifer Brennan, Charisse Carlson, Dominic Ciavatta, Dave Clary, Craig Franklin, Ian Korf, Cathleen Lutz, Terry Magnuson, Fernando Pardo-Manuel de Villena, Oleg Mirochnitchenko, Samit Patel, Dan Port, Laura G Reinholdt, and K C Kent Lloyd
Human insulin as both antigen and protector in type 1 diabetes., Nitin P Amdare, Leonard D. Shultz, Dale L Greiner, and Teresa P DiLorenzo
Genome-matched treatments and patient outcomes in the Maine Cancer Genomics Initiative (MCGI)., Eric C Anderson, John DiPalazzo, F Lee Lucas, Michael J Hall, Andrey Antov, Petra Helbig, Jennifer Bourne, Leah Graham, Lory Gaitor, Christine Lu-Emerson, Leslie S Bradford, Roger Inhorn, Sarah J Sinclair, Philip L Brooks, Christian A Thomas, Karen Rasmussen, Paul K J Han, Edison Liu, and Jens Rueter
Editorial: Islet cell development, heterogeneity and regeneration., Ansarullah, Adriana Migliorini, and Mostafa Bakhti
Tuberculosis in otherwise healthy adults with inherited TNF deficiency., Andrés A Arias, Anna-Lena Neehus, Masato Ogishi, Vincent Meynier, Adam Krebs, Tomi Lazarov, Angela M Lee, Carlos A Arango-Franco, Rui Yang, Julio Orrego, Melissa Corcini Berndt, Julian Rojas, Hailun Li, Darawan Rinchai, Lucia Erazo-Borrás, Ji Eun Han, Bethany Pillay, Khoren Ponsin, Matthieu Chaldebas, Quentin Philippot, Jonathan Bohlen, Jérémie Rosain, Tom Le Voyer, Till Janotte, Krishnajina Amarajeeva, Camille Soudée, Marion Brollo, Katja Wiegmann, Quentin Marquant, Yoann Seeleuthner, Danyel Lee, Candice Lainé, Doreen Kloos, Rasheed Bailey, Paul Bastard, Narelle Keating, Franck Rapaport, Taushif Khan, Marcela Moncada-Vélez, María Camila Carmona, Catalina Obando, Jesús Alvarez, Juan Carlos Cataño, Larry Luber Martínez-Rosado, Juan P Sanchez, Manuela Tejada-Giraldo, Anne-Sophie L'Honneur, María L Agudelo, Lizet J Perez-Zapata, Diana M Arboleda, Juan Fernando Alzate, Felipe Cabarcas, Alejandra Zuluaga, Simon J Pelham, Armin Ensser, Monika Schmidt, Margarita M Velásquez-Lopera, Emmanuelle Jouanguy, Anne Puel, Martin Krönke, Stefano Ghirardello, Alessandro Borghesi, Susanta Pahari, Bertrand Boisson, Stefania Pittaluga, Cindy S Ma, Jean-François Emile, Luigi D Notarangelo, Stuart G Tangye, Nico Marr, Nico Lachmann, Hélène Salvator, Larry S Schlesinger, Peng Zhang, Michael S Glickman, Carl F Nathan, Frédéric Geissmann, Laurent Abel, José Luis Franco, Jacinta Bustamante, Jean-Laurent Casanova, and Stéphanie Boisson-Dupuis
Complex regulatory networks influence pluripotent cell state transitions in human iPSCs., Timothy D Arthur, Jennifer P Nguyen, Agnieszka D'Antonio-Chronowska, Hiroko Matsui, Nayara S Silva, Isaac N Joshua, iPSCORE Consortium, André D Luchessi, William W Young Greenwald, Matteo D'Antonio, Martin Pera, and Kelly A Frazer
Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement., Peter A Audano and Christine R Beck
Satellite cells in the growth and maintenance of muscle, John F Bachman and J V. Chakkalakal
Characterization of Collaborative Cross mouse founder strain CAST/EiJ as a novel model for lethal COVID-19., Candice N Baker, Debra Duso, Nagarama Kothapalli, Tricia Hart, Sean Casey, Tres Cookenham, Larry Kummer, Janine Hvizdos, Kathleen Lanzer, Purva Vats, Priya Shanbhag, Isaac Bell, Mike Tighe, Kelsey Travis, Frank Szaba, Jeffrey M. Harder, Olivia Bedard, Natalie Oberding, Jerrold M Ward, Mark D Adams, Cathleen Lutz, Shelton S Bradrick, William W Reiley, and Nadia Rosenthal
Mouse Genome Informatics: an integrated knowledgebase system for the laboratory mouse., Richard M. Baldarelli, Cynthia Smith, Martin Ringwald, Joel E Richardson, Carol J Bult, and Mouse Genome Informatics
GenomeMUSter mouse genetic variation service enables multitrait, multipopulation data integration and analysis., Robyn L Ball, Molly A. Bogue, Hongping Liang, Anuj Srivastava, David G Ashbrook, Anna Lamoureux, Matthew Gerring, Alexander S Hatoum, Matthew J Kim, Hao He, Jake Emerson, Alexander Berger, David O Walton, Keith Sheppard, Baha El Kassaby, Francisco Castellanos, Govindarajan Kunde-Ramamoorthy, Lu Lu, John Bluis, Sejal Desai, Beth A. Sundberg, Gary Peltz, Zhuoqing Fang, Gary Churchill, Robert W Williams, Arpana Agrawal, Carol J Bult, Vivek M. Philip, and Elissa J Chesler
Age, sex and Alzheimer's disease: a longitudinal study of 3xTg-AD mice reveals sex-specific disease trajectories and inflammatory responses mirrored in postmortem brains from Alzheimer's patients., Alicia J Barber, Carmen L Del Genio, Anna Beth Swain, Elizabeth M Pizzi, Sarah C Watson, Vedant N Tapiavala, George J Zanazzi, and Arti B Gaur
ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification., Samantha M Barnada, Aida Giner de Gracia, Cruz Morenilla-Palao, Maria Teresa López-Cascales, Chiara Scopa, Francis J Waltrich, Harald M M Mikkers, Maria Elena Cicardi, Jonathan Karlin, Davide Trotti, Kevin A Peterson, Samantha A Brugmann, Gijs W E Santen, Steven B McMahon, Eloísa Herrera, and Marco Trizzino
The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem., J Allen Baron, Claudia Sanchez-Beato Johnson, Michael A Schor, Dustin Olley, Lance Nickel, Victor Felix, James B Munro, Susan M. Bello, Cynthia Bearer, Richard Lichenstein, Katharine Bisordi, Rima Koka, Carol Greene, and Lynn M Schriml
Characterization of covalent inhibitors that disrupt the interaction between the tandem SH2 domains of SYK and FCER1G phospho-ITAM., Frances M Bashore, Vittorio L Katis, Yuhong Du, Arunima Sikdar, Dongxue Wang, William J Bradshaw, Karolina A Rygiel, Tina M Leisner, Rod Chalk, Swati Mishra, C Andrew Williams, Opher Gileadi, Paul E Brennan, Jesse C Wiley, Jake Gockley, Gregory Cary, Gregory W. Carter, Jessica E Young, Kenneth H Pearce, Haian Fu, the Emory-Sage-SGC TREAT-AD Center, and Alison D Axtman
L-NAC and L-NAC methyl ester prevent and overcome physical dependence to fentanyl in male rats., James N Bates, Santhosh M Baby, Paulina M Getsy, Gregory A Coffee, Yee-Hsee Hsieh, Zackery T Knauss, Albert Dahan, Jason A. Bubier, Peter M MacFarlane, Devin Mueller, and Stephen J Lewis
Localization of cadherins in the postnatal cochlear epithelium and their relation to space formation., Holly J Beaulac and Vidhya Munnamalai
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases, Danique Beijer, Sheila Marte, Jiaxin C Li, Willem De Ridder, Jessie Z Chen, Abby Tadenev, Kathy E Miers, Tine Deconinck, Richard Macdonell, Wilson Marques, Peter De Jonghe, Samia L Pratt, Rebecca Meyer-Schuman, Stephan Züchner, Anthony Antonellis, Robert W. Burgess, and Jonathan Baets
Anthropogenic events and responses to environmental stress are shaping the genomes of Ethiopian indigenous goats., Shumuye Belay, Gurja Belay, Helen Nigussie, Abulgasim M Ahbara, Abdulfatai Tijjani, Tadelle Dessie, Getinet M Tarekegn, Han Jian-Lin, Siobhan Mor, Helina S Woldekiros, Keith Dobney, Ophelie Lebrasseur, Olivier Hanotte, and Joram M Mwacharo
GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies., Salima Benbarche, Jose Mario Bello Pineda, Laura Baquero Galvis, Jeetayu Biswas, Bo Liu, Eric Wang, Qian Zhang, Simon J Hogg, Kadeen Lyttle, Ariana Dahi, Alexander M Lewis, Martina Sarchi, Jahan Rahman, Nina Fox, Yuxi Ai, Sanjoy Mehta, Ralph Garippa, Juliana Ortiz-Pacheco, Zhuoning Li, Mara Monetti, Robert F Stanley, Sergei Doulatov, Robert K Bradley, and Omar Abdel-Wahab
Linking immune modulation to cardiac fibrosis, Frank Bengel, Jonathan Epstein, Robert Gropler, Uwe Haberkorn, Rafael Kramann, Kory Lavine, Florian Leuschner, Yongjian Liu, Nadia Rosenthal, and Hao Wu
Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice., Kellie Benzow, Kul Karanjeet, Adrian L Oblak, Gregory W. Carter, Michael Sasner, and Michael D Koob
Gonadotropin elevation is ootoxic to ovulatory oocytes and inhibits oocyte maturation, and activin decoy receptor ActRIIB:Fc therapeutically restores maturation., Lori R Bernstein, Amelia C L Mackenzie, Charles L Chaffin, Se-Jin Lee, Duane C Kraemer, and Istvan Merchenthaler
Digitalization of toxicology: improving preclinical to clinical translation., Brian R Berridge, Szczepan W Baran, Vivek Kumar, Natalie Bratcher-Petersen, Michael Ellis, Chang-Ning Liu, and Timothy L Robertson
An interactive web application for exploring systemic lupus erythematosus blood transcriptomic diversity., Eléonore Bettacchioli, Laurent Chiche, Damien Chaussabel, Divi Cornec, Noémie Jourde-Chiche, and Darawan Rinchai
Short-chain fatty acid valerate reduces voluntary alcohol intake in male mice., Suresh C Bokoliya, Jordan Russell, Yair Dorsett, Hunter A Panier, Vijender Singh, Lauren Daddi, Hanshu Yuan, Liv R Dedon, Zhongmao Liu, Yuqi Zhou, Zefang Min, Jessica R Barson, Jonathan Covault, Jason A. Bubier, and Yanjiao Zhou
Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life., Salim Bougarn, Andrea Guennoun, Taushif Khan, Rafah Mackeh, Mehdi Adeli, and Nico Marr
Development of an automated 3D high content cell screening platform for organoid phenotyping., Suleyman B Bozal, Greg Sjogren, Antonio P Costa, Joseph S Brown, Shannon Roberts, Dylan Baker, Paul Gabriel, Benjamin T Ristau, Michael Samuels, William F Flynn, Paul Robson, and Elise T Courtois
Developing Quality Workforce Training: Breaking with Traditional Scoring, Kelly Brackett
Three linked variants have opposing regulatory effects on isovaleryl-CoA dehydrogenase gene expression., Elizabeth A Brown, Susan Kales, Michael James Boyle, Joseph Vitti, Dylan Kotliar, Steve Schaffner, Ryan Tewhey, and Pardis C Sabeti
Design of a targeted blood transcriptional panel for monitoring immunological changes accompanying pregnancy., Tobias Brummaier, Darawan Rinchai, Mohammed Toufiq, Mohammed Y Karim, Tanwir Habib, Jürg Utzinger, Daniel H Paris, Rose McGready, Alexandra K Marr, Tomoshige Kino, Annalisa Terranegra, Souhaila Al Khodor, Damien Chaussabel, and Basirudeen Syed Ahamed Kabeer
Synaptic vesicle glycoprotein 2C enhances vesicular storage of dopamine and counters dopaminergic toxicity., Meghan L Bucher, Amy R Dunn, Joshua M Bradner, Kristen Stout Egerton, James P Burkett, Michelle A Johnson, and Gary W Miller
Large-scale annotated dataset for cochlear hair cell detection and classification., Christopher J Buswinka, David B Rosenberg, Rubina G Simikyan, Richard T Osgood, Katharine Fernandez, Hidetomi Nitta, Yushi Hayashi, Leslie W Liberman, Emily Nguyen, Erdem Yildiz, Jinkyung Kim, Amandine Jarysta, Justine Renauld, Ella Wesson, Haobing Wang, Punam Thapa, Pierrick Bordiga, Noah McMurtry, Juan Llamas, Siân R Kitcher, Ana I López-Porras, Runjia Cui, Ghazaleh Behnammanesh, Jonathan E Bird, Angela Ballesteros, A Catalina Vélez-Ortega, Albert S B Edge, Michael R Deans, Ksenia Gnedeva, Brikha R Shrestha, Uri Manor, Bo Zhao, Anthony J Ricci, Basile Tarchini, Martín L Basch, Ruben Stepanyan, Lukas D Landegger, Mark A Rutherford, M Charles Liberman, Bradley J Walters, Corné J Kros, Guy P Richardson, Lisa L Cunningham, and Artur A Indzhykulian
Lethal phenotypes in Mendelian disorders., Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Duyzend, Peter N Robinson, and Damian Smedley
CDK4/6 inhibition enhances T-cell immunotherapy on hepatocellular carcinoma cells by rejuvenating immunogenicity., Xiurong Cai, Guo Yin, Shuai Chen, Frank Tacke, Adrien Guillot, and Hanyang Liu
Non-genetic mechanisms of drug resistance in acute leukemias., Alexander Calderon, Cuijuan Han, Sadik Karma, and Eric Wang
Sunitinib in Patients With Breast Cancer With, Carmen J Calfa, Michael Rothe, Pam K Mangat, Elizabeth Garrett-Mayer, Eugene R Ahn, Monika L Burness, Keerthi Gogineni, Nitin Rohatgi, Tareq Al Baghdadi, Alison Conlin, Anu Gaba, Omid Hamid, Jairam Krishnamurthy, Naga Jyothi Gavini, Philip J Gold, Jordi Rodon, Jens Rueter, Ramya Thota, Gina N Grantham, Dominique C Hinshaw, Abigail Gregory, Susan Halabi, and Richard L Schilsky
Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning., Luca Cappelletti, Lauren Rekerle, Tommaso Fontana, Peter Hansen, Elena Casiraghi, Vida Ravanmehr, Christopher J Mungall, Jeremy J Yang, Leonard Spranger, Guy Karlebach, J Harry Caufield, Leigh Carmody, Ben D Coleman, Tudor I Oprea, Justin Reese, Giorgio Valentini, and Peter N Robinson
Genetic and multi-omic risk assessment of Alzheimer's disease implicates core associated biological domains., Gregory Cary, Jesse C Wiley, Jake Gockley, Stephen Keegan, Sai Sruthi Amirtha Ganesh, Laura Heath, Robert R Butler, Lara M Mangravite, Benjamin A Logsdon, Frank M Longo, Allan Levey, Anna K Greenwood, and Gregory W. Carter
In vitro development of resistance against antipseudomonal agents: comparison of novel beta-lactam/beta-lactamase inhibitor combinations and other beta-lactam agents, Mariana Castanheira, John H Kimbrough, Jill Lindley, Timothy B Doyle, Jessica M Ewald, and Helio S Sader
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning., J Harry Caufield, Harshad Hegde, Vincent Emonet, Nomi L Harris, Marcin P Joachimiak, Nicolas Matentzoglu, HyeongSik Kim, Sierra Moxon, Justin T Reese, Melissa A Haendel, Peter N Robinson, and Christopher J Mungall
AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia., Joshua C Chang, Molly R Ryan, Marie C Stark, Su Liu, Pravinkumar Purushothaman, Fria Bolan, Caitlin A Johnson, Mark Champe, Hui Meng, Michael W Lawlor, Sarah Halawani, Lucie V Ngaba, David R Lynch, Crystal Davis, Elena Gonzalo-Gil, Cathleen Lutz, Fabrizia Urbinati, Bala Medicherla, and Carlos Fonck
Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests., Lauren E Chan, Elena Casiraghi, Justin Reese, Quaker E Harmon, Kevin Schaper, Harshad Hegde, Giorgio Valentini, Charles Schmitt, Alison Motsinger-Reif, Janet E Hall, Christopher J Mungall, Peter N Robinson, and Melissa A Haendel
Health care utilization and behavior changes after workplace genetic testing at a large US health care system., Elizabeth Charnysh, Subhamoy Pal, Jonathan M Reader, Wendy R Uhlmann, Sarah McCain, Kunal Sanghavi, Drew Blasco, Rachael Brandt, William Gregory Feero, Rebecca Ferber, Veda N Giri, Katherine Hendy, Anya E R Prince, Charles Lee, J Scott Roberts, and INSIGHT @ Work consortium
Altered RNA export by SF3B1 mutants confers sensitivity to nuclear export inhibition., Sana Chaudhry, Felipe Beckedorff, Shaista Shabbir Jasdanwala, Tulasigeri M Totiger, Maurizio Affer, Abimbola Eunice Lawal, Skye Montoya, Francesco Tamiro, Olivia Tonini, Alexandra Chirino, Andrew Adams, Anya K Sondhi, Stephen Noudali, Alyssa Mauri Cornista, Miah Nicholls, Jumana Afaghani, Paola Robayo, Daniel Bilbao, Stephen D Nimer, Jose Antonio Rodríguez, Shruti Bhatt, Eric Wang, and Justin Taylor
Soluble Tim-3 serves as a tumor prognostic marker and therapeutic target for CD8, Chaojia Chen, Fangcheng Zhao, Jiali Peng, Di Zhao, Liyun Xu, Huayu Li, Shuaiya Ma, Xueqi Peng, Xue Sheng, Yang Sun, Tixiao Wang, Haoqing Dong, Yuming Ding, Zhuanchang Wu, Xiaohong Liang, Lifen Gao, Hongyan Wang, Chunhong Ma, and Chunyang Li
Multiomics analyses decipher intricate changes in the cellular and metabolic landscape of steatotic livers upon dietary restriction and sleeve gastrectomy., Shuai Chen, Qinghe Zeng, Xiurong Cai, Jiaming Xue, Guo Yin, Peng Song, Liming Tang, Christophe Klein, Frank Tacke, Adrien Guillot, and Hanyang Liu
Pediatric Tumors as Disorders of Development: The Case for In Vitro Modeling Based on Human Stem Cells., Cullen D Clairmont, Joanna J Gell, and Ching C Lau
Minimum information and guidelines for reporting a multiplexed assay of variant effect., Melina Claussnitzer, Victoria N Parikh, Alex H Wagner, Jeremy A Arbesfeld, Carol J Bult, Helen V Firth, Lara A Muffley, Alex N Nguyen Ba, Kevin Riehle, Frederick P Roth, Daniel Tabet, Benedetta Bolognesi, Andrew M Glazer, and Alan F Rubin
Association of post-COVID phenotypic manifestations with new-onset psychiatric disease., Ben D Coleman, Elena Casiraghi, Tiffany J Callahan, Hannah Blau, Lauren E Chan, Bryan Laraway, Kevin B Clark, Yochai Re'em, Ken R Gersing, Kenneth J Wilkins, Nomi L Harris, Giorgio Valentini, Melissa A Haendel, Justin T Reese, and Peter N Robinson
Inflammation impacts androgen receptor signaling in basal prostate stem cells through interleukin 1 receptor antagonist., Paula O Cooper, Jiang Yang, Hsing-Hui Wang, Meaghan M Broman, Shyaman Madhawa Jayasundara, Subhransu Sekhar Sahoo, Bingyu Yan, Gada D Awdalkreem, Gregory M Cresswell, Liang Wang, Emery Goossens, Nadia A Lanman, Rebecca W Doerge, Faye Zheng, Liang Cheng, Saeed Alqahtani, Scott A Crist, Robert E Braun, Majid Kazemian, Travis J Jerde, and Timothy L Ratliff
An in vitro neurogenetics platform for precision disease modeling in the mouse., Daniel Cortes, Mélanie Escudero, Austin C Korgan, Arojit Mitra, Alyssa Edwards, Selcan Aydin, Steven C. Munger, Kevin Charland, Zhong-Wei Zhang, Kristen M S O'Connell, Laura G Reinholdt, and Martin Pera
WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration., Alyssa M Coulter, Valerie Cortés, Corey J Theodore, Rachel E Cianciolo, Ron Korstanje, and Kenneth G Campellone
Cross-sectional association between blood cholesterol and calcium levels in genetically diverse strains of mice., Cody M Cousineau, Kaelin Loftus, Gary Churchill, and Dave Bridges
Phenotypic differences in intermediate generalized junctional epidermolysis bullosa with homozygous LAMC2 mutation and a potential genetic modifier., Timothy L Cowan, John P Sundberg, Derry C. Roopenian, Thomas J. Sproule, and Dédée F Murrell
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery., Daniel Danis, Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh Carmody, Leonardo Chimirri, Jessica X Chong, Ben D Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Peter Hansen, Julius O B Jacobsen, Adam Klocperk, Maaike Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher J Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauss, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, and Peter N Robinson
Long-Term Human Immune Reconstitution, T-Cell Development, and Immune Reactivity in Mice Lacking the Murine Major Histocompatibility Complex: Validation with Cellular and Gene Expression Profiles., Milita Darguzyte, Philipp Antczak, Daniel Bachurski, Patrick Hoelker, Nima Abedpour, Rahil Gholamipoorfard, Hans A Schlößer, Kerstin Wennhold, Martin Thelen, Maria A Garcia-Marquez, Johannes Koenig, Andreas Schneider, Tobias Braun, Frank Klawonn, Michael Damrat, Masudur Rahman, Jan-Malte Kleid, Sebastian J Theobald, Eugen Bauer, Constantin von Kaisenberg, Steven R Talbot, Leonard D. Shultz, Brian Soper, and Renata Stripecke
Kdm1a safeguards the topological boundaries of PRC2-repressed genes and prevents aging-related euchromatinization in neurons., Beatriz Del Blanco, Sergio Niñerola, Ana M Martín-González, Juan Paraíso-Luna, Minji Kim, Rafael Muñoz-Viana, Carina Racovac, Jose V Sanchez-Mut, Yijun Ruan, and Ángel Barco
Persistent transcriptional changes in cardiac adaptive immune cells following myocardial infarction: New evidence from the re-analysis of publicly available single cell and nuclei RNA-sequencing data sets., Natasha de Winter, Jiahui Ji, Amalia Sintou, Elvira Forte, Michael Lee, Michela Noseda, Aoxue Li, Andrew L Koenig, Kory J Lavine, Sikander Hayat, Nadia Rosenthal, Costanza Emanueli, Prashant K Srivastava, and Susanne Sattler
Socioeconomic and urban-rural disparities in genome-matched treatment receipt and survival after genomic tumor testing., Jessica F DiBiase, Elizabeth Scharnetzki, Emily A Edelman, Kate Reed, Petra Helbig, Jens Rueter, Susan Miesfeldt, Cara L Frankenfeld, Paul K J Han, Elizabeth A Jacobs, Eric C Anderson, and Maine Cancer Genomics Initiative Working Group
Microglia depletion leads to increased susceptibility to ocular hypertension-dependent glaucoma, Cory A Diemler, Michael MacLean, Sarah E Heuer, Amanda A Hewes, Olivia J Marola, Richard T. Libby, and Gareth R Howell
Dietary restriction impacts health and lifespan of genetically diverse mice., Andrea Di Francesco, Andrew Deighan, Lev Litichevskiy, Zhenghao Chen, Alison Luciano, Laura Robinson, Gaven Garland, Hannah J Donato, Matthew J Vincent, William H. Schott, Kevin M Wright, Anil Raj, G V Prateek, Martin Mullis, Warren G Hill, Mark L Zeidel, Luanne L. Peters, Fiona Harding, David Botstein, Ron Korstanje, Christoph A Thaiss, Adam Freund, and Gary Churchill
Nextflow pipeline for Visium and H&E data from patient-derived xenograft samples., Sergii Domanskyi, Anuj Srivastava, Jessica Kaster, Haiyin Li, Meenhard Herlyn, Jill C Rubinstein, and Jeffrey Chuang
OBO Foundry food ontology interconnectivity, Damion Dooley, Liliana Andres-Hernandez, Georgeta Bordea, Leigh Carmody, Duccio Cavalieri, Lauren Chan, Pol Castellano-Escuder, Carl Lachat, Fleur Mougin, Francesco Vitali, Chen Yang, Magalie Weber, Hande Kucuk McGinty, and Matthew Lange
Little impact of new mutations on mammalian trait variation., Beth L Dumont
Into the Wild: A novel wild-derived inbred strain resource expands the genomic and phenotypic diversity of laboratory mouse models., Beth L Dumont, Daniel Mario Gatti, Mallory A Ballinger, Dana Lin, Megan Phifer-Rixey, Michael J Sheehan, Taichi A Suzuki, Lydia K Wooldridge, Hilda Opoku Frempong, Raman Akinyanju Lawal, Gary Churchill, Cathleen Lutz, Nadia Rosenthal, Jacqueline K White, and Michael W Nachman
Improving prenatal diagnosis through standards and aggregation., Michael H Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter N Robinson, and Damian Smedley
A team-based approach to cardiogenomic education., Emily A Edelman, Kalisi Logan, Therese Ingram, Kate Reed, Catherine Wicklund, Debra Duquette, and Lisa Dellefave-Castillo
MVAR: A Mouse Variation Registry., Baha El Kassaby, Francisco Castellanos, Matthew Gerring, Govindarajan Kunde-Ramamoorthy, and Carol J Bult
Impact of essential genes on the success of genome editing experiments generating 3313 new genetically engineered mouse lines., Hillary Elrick, Kevin A Peterson, Brandon J Willis, Denise G Lanza, Elif F Acar, Edward J Ryder, Lydia Teboul, Petr Kasparek, Marie-Christine Birling, David J Adams, Allan Bradley, Robert E Braun, Steve D Brown, Adam Caulder, Gemma F Codner, Francesco J DeMayo, Mary E Dickinson, Brendan Doe, Graham Duddy, Marina Gertsenstein, Leslie O Goodwin, Yann Hérault, Lauri G Lintott, K C Kent Lloyd, Isabel Lorenzo, Matthew Mackenzie, Ann-Marie Mallon, Colin McKerlie, Helen Parkinson, Ramiro Ramirez-Solis, John R Seavitt, Radislav Sedlacek, William C Skarnes, Damien Smedley, Sara Wells, Jacqueline K White, Joshua A Wood, International Mouse Phenotyping Consortium, Stephen A Murray, Jason D Heaney, and Lauryl M J Nutter
Single-cell Transcriptome Landscape of DNA Methylome Regulators Associated with Orofacial Clefts in the Mouse Dental Pulp., Badam Enkhmandakh, Pujan Joshi, Paul Robson, Anushree Vijaykumar, Mina Mina, Dong-Guk Shin, and Dashzeveg Bayarsaihan
Protocol for large DNA transgenesis in mice using the Cas9+Bxb1 toolbox., Valerie Erhardt, Chrystal M Snow, and Vishnu Hosur
Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia., Salome Funes, Jonathan Jung, Del Hayden Gadd, Michelle Mosqueda, Jianjun Zhong, Shankaracharya, Matthew Unger, Karly Stallworth, Debra Cameron, Melissa S Rotunno, Pepper Dawes, Megan Fowler-Magaw, Pamela J Keagle, Justin A McDonough, Sivakumar Boopathy, Miguel Sena-Esteves, Jeffrey A Nickerson, Cathleen Lutz, William C Skarnes, Elaine T Lim, Dorothy P Schafer, Francesca Massi, John E Landers, and Daryl A Bosco
The Human Phenotype Ontology in 2024: phenotypes around the world., Michael Gargano, Nicolas Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert B A de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander J M Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O B Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, and Peter N Robinson
Co-expression of prepulse inhibition and schizophrenia genes in the mouse and human brain, Lillian Garrett, Dietrich Trümbach, Donghyung Lee, Silvia Mandillo, Rodney Samaco, Ann M. Flenniken, Michelle Stewart, IMPC Consortium, Jacqueline K White, Colin McKerlie, Lauryl M.J. Nutter, Igor Vukobradovic, Surabi Verraragavan, Lisa Yuva, Jason D. Heaney, Mary E. Dickinson, Hamid Meziane, Yann Hérault, Sara Wells, K.C. Kent Lloyd, Lynette Bower, Louise Lanaue, Dave Clary, Annemarie Zimprich, Valerie Gailus-Durner, Helmut Fuchs, Steve D.M. Brown, Elissa J Chesler, Wolfgang Wurst, Martin Hrabě de Angelis, and Sabine M. Hölter
Systems genetics uncover new loci containing functional gene candidates in Mycobacterium tuberculosis-infected Diversity Outbred mice., Daniel Mario Gatti, Anna L. Tyler, J Matthew Mahoney, Gary Churchill, Bulent Yener, Deniz Koyuncu, Metin N Gurcan, Mk Khalid Niazi, Thomas Tavolara, Adam Gower, Denise Dayao, Emily McGlone, Melanie L Ginese, Aubrey Specht, Anas Alsharaydeh, Philipe A Tessier, Sherry L Kurtz, Karen L Elkins, Igor Kramnik, and Gillian Beamer
The cell-permeant antioxidant D-thiol ester D-cysteine ethyl ester overcomes physical dependence to morphine in male Sprague Dawley rats, Paulina M. Getsy, Gregory A. Coffee, James N. Bates, Theodore Parran, Lee Hoffer, Santhrosh M. Baby, Peter M. MacFarlane, Zackery T. Knauss, Derek S. Damron, Yee-Hsee Hsieh, Jason A. Bubier, Devin Mueller, and Stephen J. Lewis
Applications of Organoids in Advancing Drug Discovery and Development., Indiwari Gopallawa, Charu Gupta, Rayan Jawa, Arya Cyril, Vibha Jawa, Narendra Chirmule, and Vikramsingh Gujar
Machine-guided design of cell-type-targeting cis-regulatory elements., Sager J Gosai, Rodrigo Castro, Natalia Fuentes, John C Butts, Kousuke Mouri, Michael Alasoadura, Susan Kales, Thanh Thanh L Nguyen, Ramil R Noche, Arya S Rao, Mary T Joy, Pardis C Sabeti, Steven K Reilly, and Ryan Tewhey
A graph theoretical approach to experimental prioritization in genome-scale investigations., Stephen K Grady, Kevin A Peterson, Stephen A. Murray, Erich J Baker, Michael A Langston, and Elissa J Chesler
RREB1 regulates neuronal proteostasis and the microtubule network., Emily N Griffin, Thomas Jucius, Su-Eon Sim, Belinda S. Harris, Sven Heinz, and Susan L Ackerman
An evaluation of GPT models for phenotype concept recognition., Tudor Groza, Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A Haendel, Peter N Robinson, Christopher J Mungall, and Justin T Reese
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology., Tudor Groza, Dylan Gration, Gareth Baynam, and Peter N Robinson
Helper T cell immunity in humans with inherited CD4 deficiency., Antoine Guérin, Marcela Moncada-Vélez, Katherine Jackson, Masato Ogishi, Jérémie Rosain, Mathieu Mancini, David Langlais, Andrea Nunez, Samantha Webster, Jesse Goyette, Taushif Khan, Nico Marr, Danielle T Avery, Geetha Rao, Tim Waterboer, Birgitta Michels, Esmeralda Neves, Cátia Iracema Morais, Jonathan London, Stéphanie Mestrallet, Pierre Quartier Dit Maire, Bénédicte Neven, Franck Rapaport, Yoann Seeleuthner, Atar Lev, Amos J Simon, Jorge Montoya, Ortal Barel, Julio Gómez-Rodríguez, Julio C Orrego, Anne-Sophie L'Honneur, Camille Soudée, Jessica Rojas, Alejandra C Velez, Irini Sereti, Benjamin Terrier, Nancy Marin, Luis F García, Laurent Abel, Stéphanie Boisson-Dupuis, Joel Reis, Antonio Marinho, Andrea Lisco, Emilia Faria, Christopher C Goodnow, Julia Vasconcelos, Vivien Béziat, Cindy S Ma, Raz Somech, Jean-Laurent Casanova, Jacinta Bustamante, Jose Luis Franco, and Stuart G Tangye
Detecting the effect of genetic diversity on brain composition in an Alzheimer's disease mouse model., Brianna Gurdon, Sharon C Yates, Gergely Csucs, Nicolaas E Groeneboom, Niran Hadad, Maria Telpoukhovskaia, Andrew R Ouellette, Tionna Ouellette, Kristen M S O'Connell, Surjeet Singh, Thomas J Murdy, Erin Merchant, Ingvild Bjerke, Heidi Kleven, Ulrike Schlegel, Trygve B Leergaard, Maja A Puchades, Jan G Bjaalie, and Catherine C Kaczorowski
Highly accurate and precise determination of mouse mass using computer vision, Malachy Guzman, Brian Q Geuther, Gautam S Sabnis, and Vivek Kumar
Patient-Derived Models of Cancer in the NCI PDMC Consortium: Selection, Pitfalls, and Practical Recommendations., Amber N Habowski, Deepthi P Budagavi, Sandra D Scherer, Arin B Aurora, Giuseppina Caligiuri, William F Flynn, Ellen M Langer, Jonathan R Brody, Rosalie C Sears, Giorgia Foggetti, Anna Arnal Estape, Don X Nguyen, Katerina A Politi, Xiling Shen, David S Hsu, Donna M Peehl, John Kurhanewicz, Renuka Sriram, Milagros Suarez, Sophie Xiao, Yuchen Du, Xiao-Nan Li, Nora M Navone, Estefania Labanca, and Christopher D Willey
A C-terminal motif containing a PKC phosphorylation site regulates γ-Protocadherin-mediated dendrite arborization in the cerebral cortex in vivo., Camille M Hanes, Kar Men Mah, David M Steffen, Cathy M McLeod, Charles G Marcucci, Leah C Fuller, Robert W. Burgess, Andrew M Garrett, and Joshua A Weiner
A serum-induced gene signature in hepatocytes is associated with pediatric nonalcoholic fatty liver disease., T Hang Nghiem-Rao, Jethro Johnson, Amy Pan, Samantha N Atkinson, Cynthia Behling, Pippa M Simpson, Mary L Holtz, George M. Weinstock, Jeffrey B Schwimmer, and Nita H Salzman
Astaxanthin and meclizine extend lifespan in UM-HET3 male mice; fisetin, SG1002 (hydrogen sulfide donor), dimethyl fumarate, mycophenolic acid, and 4-phenylbutyrate do not significantly affect lifespan in either sex at the doses and schedules used., David E Harrison, Randy Strong, Peter C. Reifsnyder, Nadia Rosenthal, Ron Korstanje, Elizabeth Fernandez, Kevin Flurkey, Brett C Ginsburg, Meredith D Murrell, Martin A Javors, Marisa Lopez-Cruzan, James F Nelson, Bradley J Willcox, Richard Allsopp, David M Watumull, David G Watumull, Gino Cortopassi, James L Kirkland, Tamar Tchkonia, Young Geun Choi, Matthew J Yousefzadeh, Paul D Robbins, James R Mitchell, Murat Acar, Ethan A Sarnoski, Michael R Bene, Adam Salmon, Navasuja Kumar, and Richard A Miller
Proteins required for stereocilia elongation during mammalian hair cell development ensure precise and steady heights during adult life., Elli I Hartig, Matthew Day, Amandine Jarysta, and Basile Tarchini
Human IL-6 fosters long-term engraftment of patient-derived disease-driving myeloma cells in immunodeficient mice., Zainul S Hasanali, Alfred L Garfall, Lisa Burzenski, Leonard D. Shultz, Yan Tang, Siddhant Kadu, Neil C Sheppard, Wei Liu, Derek Dopkin, Dan T Vogl, Adam D Cohen, Adam J Waxman, Sandra P Susanibar-Adaniya, Martin Carroll, Edward A Stadtmauer, and David Allman
Single-cell analysis identifies distinct macrophage phenotypes associated with prodisease and proresolving functions in the endometriotic niche., Yasmin Henlon, Kavita Panir, Iona McIntyre, Chloe Hogg, Priya Dhami, Antonia O Cuff, Anna Senior, Niky Moolchandani-Adwani, Elise T Courtois, Andrew W Horne, Matthew Rosser, Sascha Ott, and Erin Greaves
Strategies to dissect microglia-synaptic interactions during aging and in Alzheimer's disease., Sarah E Heuer, Erik B Bloss, and Gareth R Howell
Control of hippocampal synaptic plasticity by microglia-dendrite interactions depends on genetic context in mouse models of Alzheimer's disease., Sarah E Heuer, Kelly J Keezer, Amanda A Hewes, Kristen D. Onos, Kourtney Graham, Gareth R Howell, and Erik B Bloss
Genetic context drives age-related disparities in synaptic maintenance and structure across cortical and hippocampal neuronal circuits., Sarah E Heuer, Emily W Nickerson, Gareth R Howell, and Erik B Bloss
Large changes in detected selection signatures after a selection limit in mice bred for voluntary wheel-running behavior., David A Hillis, Liran Yadgary, George M. Weinstock, Fernando Pardo-Manuel de Villena, Daniel Pomp, and Theodore Garland
TTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance., J Travis Hinson and Stuart G Campbell
Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1., Sarah E Holbrook, Amy N Hicks, Paige B Martin, Timothy J Hines, Harold P Castro, and Gregory A. Cox
Early molecular events of autosomal-dominant Alzheimer's disease in marmosets with PSEN1 mutations., Gregg E Homanics, Jung Eun Park, Lauren Bailey, David J Schaeffer, Lauren Schaeffer, Jie He, Shuoran Li, Tingting Zhang, Annat Haber, Catrina Spruce, Anna Greenwood, Takeshi Murai, Laura Schultz, Lauren Mongeau, Seung-Kwon Ha, Julia Oluoch, Brianne Stein, Sang Ho Choi, Hasi Huhe, Amantha Thathiah, Peter L Strick, Gregory W. Carter, Afonso C Silva, and Stacey J Sukoff Rizzo