Submissions from 2023
Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes., Justin T Reese, Hannah Blau, Elena Casiraghi, Timothy Bergquist, Johanna J Loomba, Tiffany J Callahan, Bryan Laraway, Corneliu Antonescu, Ben D Coleman, Michael Gargano, Kenneth J Wilkins, Luca Cappelletti, Tommaso Fontana, Nariman Ammar, Blessy Antony, T M Murali, J Harry Caufield, Guy Karlebach, Julie A McMurry, Andrew Williams, Richard Moffitt, Jineta Banerjee, Anthony E Solomonides, Hannah Davis, Kristin Kostka, Giorgio Valentini, David Sahner, Christopher G Chute, Charisse Madlock-Brown, Melissa A Haendel, and Peter N. Robinson
Modulation of RNA splicing enhances response to BCL2 inhibition in leukemia., Eric Wang, Jose Mario Bello Pineda, Won Jun Kim, Sisi Chen, Jessie Bourcier, Maximilian Stahl, Simon J Hogg, Jan Phillipp Bewersdorf, Cuijuan Han, Michael E Singer, Daniel Cui, Caroline E Erickson, Steven M Tittley, Alexander V Penson, Katherine Knorr, Robert F Stanley, Jahan Rahman, Gnana Krishnamoorthy, James A Fagin, Emily Creger, Elizabeth McMillan, Chi-Ching Mak, Matthew Jarvis, Carine Bossard, Darrin M Beaupre, Robert K Bradley, and Omar Abdel-Wahab
Submissions from 2022
Single-cell analysis of human glioma and immune cells identifies S100A4 as an immunotherapy target., Nourhan Abdelfattah, Parveen Kumar, Caiyi Wang, Jia-Shiun Leu, William F Flynn, Ruli Gao, David S Baskin, Kumar Pichumani, Omkar B Ijare, Stephanie L Wood, Suzanne Z Powell, David L Haviland, Brittany C Parker Kerrigan, Frederick F Lang, Sujit S Prabhu, Kristin M Huntoon, Wen Jiang, Betty Y S Kim, Joshy George, and Kyuson Yun
RGS12 polarizes the GPSM2-GNAI complex to organize and elongate stereocilia in sensory hair cells., Anil Akturk, Matthew Day, and Basile Tarchini
Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease., Guillermo M Alexander, Terry D Heiman-Patterson, Frank Bearoff, Roger B Sher, Laura Hennessy, Shannon Terek, Nicole Caccavo, Gregory A Cox, Vivek M. Philip, and Elizabeth A Blankenhorn
Open Problems in Extracellular RNA Data Analysis: Insights From an ERCC Online Workshop., Roger P Alexander, Robert R Kitchen, Juan Pablo Tosar, Matthew Roth, Pieter Mestdagh, Klaas E A Max, Joel Rozowsky, Karolina Elżbieta Kaczor-Urbanowicz, Justin Chang, Leonora Balaj, Bojan Losic, Eric L Van Nostrand, Emily LaPlante, Bogdan Mateescu, Brian S White, Rongshan Yu, Aleksander Milosavljevic, Gustavo Stolovitzky, and Ryan M Spengler
Genetic Diversity and Population Structure of Local Sudanese Sheep Populations Revealed by Whole-Genome Sequencing, A Amane, G Belay, Abdulfatai Tijjani, T Dessie, H H. Musa, and O Hanotte
The Mutant Mouse Resource and Research Center (MMRRC): the NIH-supported National Public Repository and Distribution Archive of Mutant Mouse Models in the USA., James Amos-Landgraf, Craig Franklin, Virginia Godfrey, Franziska Grieder, Kristin Grimsrud, Ian Korf, Cathleen Lutz, Terry Magnuson, Oleg Mirochnitchenko, Samit Patel, Laura G Reinholdt, and K C Kent Lloyd
The consequences of recurrent genetic and epigenetic variants in human pluripotent stem cells., Peter W Andrews, Ivana Barbaric, Nissim Benvenisty, Jonathan S Draper, Tenneille Ludwig, Florian T Merkle, Yoji Sato, Claudia Spits, Glyn N Stacey, Haoyi Wang, and Martin Pera
Interchromosomal interaction of homologous Stat92E alleles regulates transcriptional switch during stem-cell differentiation., Matthew Antel, Romir Raj, Madona Y G Masoud, Ziwei Pan, Sheng Li, Barbara G Mellone, and Mayu Inaba
Meiotic drive in house mice: mechanisms, consequences, and insights for human biology., Uma P Arora and Beth L Dumont
Measuring cardiomyocyte cell-cycle activity and proliferation in the age of heart regeneration., John Auchampach, Lu Han, Guo N Huang, Bernhard Kühn, John W Lough, Caitlin C O'Meara, Alexander Y Payumo, Nadia Rosenthal, Henry M Sucov, Katherine E Yutzey, and Michaela Patterson
Glucose metabolic profiles evaluated by PET associated with molecular characteristic landscape of gastric cancer., Seong-Woo Bae, Felix Berlth, Kyoung-Yun Jeong, Ji-Hyeon Park, Jong-Ho Choi, Shin-Hoo Park, Yun-Suhk Suh, Seong-Ho Kong, Do-Joong Park, Hyuk-Joon Lee, Charles Lee, Jong-Il Kim, Hyewon Youn, Hongyoon Choi, Gi Jeong Cheon, Keon Wook Kang, and Han-Kwang Yang
Identification of TCR repertoires in asymptomatic COVID-19 patients by single-cell T-cell receptor sequencing., Han Bai, Junpeng Ma, Weikang Mao, Xuan Zhang, Yijun Nie, Jingcan Hao, Xiaorui Wang, Hongyu Qin, Qiqi Zeng, Fang Hu, Xin Qi, Xiaobei Chen, Dong Li, Binghong Zhang, Bingyin Shi, and Chengsheng Zhang
Transposable element-mediated rearrangements are prevalent in human genomes., Parithi Balachandran, Isha A Walawalkar, Jacob I Flores, Jacob N Dayton, Peter A Audano, and Christine R Beck
Inhibition of mitochondrial complex I reverses NOTCH1-driven metabolic reprogramming in T-cell acute lymphoblastic leukemia., Natalia Baran, Alessia Lodi, Yogesh Dhungana, Shelley Herbrich, Meghan Collins, Shannon Sweeney, Renu Pandey, Anna Skwarska, Shraddha Patel, Mathieu Tremblay, Vinitha Mary Kuruvilla, Antonio Cavazos, Mecit Kaplan, Marc O Warmoes, Diogo Troggian Veiga, Ken Furudate, Shanti Rojas-Sutterin, Andre Haman, Yves Gareau, Anne Marinier, Helen Ma, Karine Harutyunyan, May Daher, Luciana Melo Garcia, Gheath Al-Atrash, Sujan Piya, Vivian Ruvolo, Wentao Yang, Sriram Saravanan Shanmugavelandy, Ningping Feng, Jason Gay, Di Du, Jun J Yang, Fieke W Hoff, Marcin Kaminski, Katarzyna Tomczak, R Eric Davis, Daniel Herranz, Adolfo Ferrando, Elias J Jabbour, M Emilia Di Francesco, David T Teachey, Terzah M Horton, Steven Kornblau, Katayoun Rezvani, Guy Sauvageau, Mihai Gagea, Michael Andreeff, Koichi Takahashi, Joseph R Marszalek, Philip L Lorenzi, Jiyang Yu, Stefano Tiziani, Trang Hoang, and Marina Konopleva
Single-cell transcriptome analysis defines mesenchymal stromal cells in the mouse incisor dental pulp., Dashzeveg Bayarsaihan, Badam Enkhmandakh, Anushree Vijaykumar, Paul Robson, and Mina Mina
Research Note: Association of single nucleotide polymorphism of AKT3 with egg production traits in White Muscovy ducks (Cairina moschata)., Semiu Folaniyi Bello, Haiping Xu, Kan Li, Lijin Guo, Siyu Zhang, Ridwan Olawale Ahmed, Endashaw Jebessa Bekele, Ming Zheng, Mingjian Xian, Bahareldin Ali Abdalla, Adeniyi Charles Adeola, Adeyinka Abiola Adetula, Raman Akinyanju Lawal, Weijian Zhu, Dexiang Zhang, Xiquan Zhang, Congliang Ji, and Qinghua Nie
RNA-Seq for the detection of gene fusions in solid tumors: development and validation of the JAX FusionSeq™ 2.0 assay., Daniel Bergeron, Harshpreet Chandok, Qian Nie, Matthew Prego, Melissa Soucy, Kevin Kelly, Guruprasad Ananda, Andrew N Hesse, and Honey V Reddi
A path to translation: How 3D patient tumor avatars enable next generation precision oncology., Shree Bose, Margarida Barroso, Milan G Chheda, Hans Clevers, Elena Elez, Salma Kaochar, Scott E Kopetz, Xiao-Nan Li, Funda Meric-Bernstam, Clifford A Meyer, Haiwei Mou, Kristen M Naegle, Martin Pera, Zinaida Perova, Katerina A Politi, Benjamin J Raphael, Paul Robson, Rosalie C Sears, Josep Tabernero, David A Tuveson, Alana L Welm, Bryan E Welm, Christopher D Willey, Konstantin Salnikow, Jeffrey H Chuang, and Xiling Shen
Sex- and age-dependent genetics of longevity in a heterogeneous mouse population., Maroun Bou Sleiman, Suheeta Roy, Arwen W Gao, Marie C Sadler, Giacomo V G von Alvensleben, Hao Li, Saunak Sen, David E Harrison, James F Nelson, Randy Strong, Richard A Miller, Zoltán Kutalik, Robert W Williams, and Johan Auwerx
Differential regulation of gene expression pathways with dexamethasone and ACTH after early life seizures., Jeffrey L Brabec, Mohamed Ouardouz, J Matthew Mahoney, Rod C Scott, and Amanda E Hernan
Derivation of extra-embryonic and intra-embryonic macrophage lineages from human pluripotent stem cells., Andrea L Bredemeyer, Junedh M Amrute, Andrew L Koenig, Rachel A Idol, Li He, Stephanie A Luff, Carissa Dege, Jamison M Leid, Joel D Schilling, J Travis Hinson, Mary C Dinauer, Christopher M Sturgeon, and Kory J Lavine
At-home blood collection and stabilization in high temperature climates using, Lauren G Brown, Amanda J Haack, Dakota S Kennedy, Karen N Adams, Jennifer E Stolarczuk, Meg G Takezawa, Erwin Berthier, Sanitta Thongpang, Fang Yun Lim, Damien Chaussabel, Mathieu Garand, and Ashleigh B Theberge
The impact of genetic background on mouse models of kidney disease., Rei Bufi and Ron Korstanje
Brain Research Special Issue on CMT, Editorial., Robert W. Burgess and Mario A Saporta
Genetic control of the pluripotency epigenome determines differentiation bias in mouse embryonic stem cells., Candice Byers, Catrina Spruce, Haley J Fortin, Ellen I Hartig, Anne M Czechanski, Steven C. Munger, Laura G Reinholdt, Daniel A Skelly, and Christopher L. Baker
Mendelian gene identification through mouse embryo viability screening., Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E Dickinson, Lauryl M J Nutter, Violeta Muñoz-Fuentes, Chih-Wei Hsu, Ignatia B Van den Veyver, Ann M Flenniken, Colin McKerlie, Stephen A Murray, Lydia Teboul, Jason D Heaney, K C Kent Lloyd, Louise Lanoue, Robert E Braun, Jacqueline K White, Amie K Creighton, Valerie Laurin, Ruolin Guo, Dawei Qu, Sara Wells, James Cleak, Rosie Bunton-Stasyshyn, Michelle Stewart, Jackie Harrisson, Jeremy Mason, Hamed Haseli Mashhadi, Helen Parkinson, Ann-Marie Mallon, International Mouse Phenotyping Consortium, Genomics England Research Consortium, and Damian Smedley
Long noncoding RNA ZFP36L2-AS functions as a metabolic modulator to regulate muscle development., Bolin Cai, Manting Ma, Jing Zhang, Shaofen Kong, Zhen Zhou, Zhenhui Li, Bahareldin Ali Abdalla, Haiping Xu, Xiquan Zhang, Raman Akinyanju Lawal, and Qinghua Nie
Strains to go: interactions of the skin microbiome beyond its species., Ryan Caldwell, Wei Zhou, and Julia Oh
TNBC Therapeutics Based on Combination of Fusarochromanone with EGFR Inhibitors., Natalie Carroll, Reneau Youngblood, Alena Smith, Ana-Maria Dragoi, Brian A Salvatore, and Elahe Mahdavian
Selective elimination of pluripotent stem cells by PIKfyve specific inhibitors., Arup R Chakraborty, Alex Vassilev, Sushil K Jaiswal, Constandina E O'Connell, John F Ahrens, Barbara S Mallon, Martin Pera, and Melvin L DePamphilis
Metformin is associated with reduced COVID-19 severity in patients with prediabetes., Lauren E Chan, Elena Casiraghi, Bryan Laraway, Ben D Coleman, Hannah Blau, Adnin Zaman, Nomi L Harris, Kenneth Wilkins, Blessy Antony, Michael Gargano, Giorgio Valentini, David Sahner, Melissa Haendel, Peter N Robinson, Carolyn Bramante, and Justin Reese
Promoting validation and cross-phylogenetic integration in model organism research., Keith C Cheng, Rebecca D Burdine, Mary E Dickinson, Stephen C Ekker, Alex Y Lin, K C Kent Lloyd, Cathleen Lutz, Calum A MacRae, John H Morrison, David H O'Connor, John H Postlethwait, Crystal D Rogers, Susan Sanchez, Julie H Simpson, William S Talbot, Douglas C Wallace, Jill M Weimer, and Hugo J Bellen
Alterations in subgingival microbiota during full-fixed appliance orthodontic treatment-A prospective study., Isaac Chen, Jennifer Chung, Raven Vella, George M. Weinstock, Yanjiao Zhou, and Andrew H Jheon
Intergenomic and epistatic interactions control free radical mediated pancreatic β-cell damage., Jing Chen, Renhua Li, Sarah Knapp, Guizhi Zhu, Robert L Whitener, Edward H. Leiter, and Clayton E Mathews
Corneal Changes and Strategies to Improve Survival of Hypomorphic Collagen VII-Deficient Mice for the Study of Ocular Dystrophic Epidermolysis Bullosa., Vicki M Chen, Karrie Southwell, Erin Huynh, Stefanie Gavett, Lauren Richey, and Michael Esmail
Editorial: Fibrosis and Inflammation in Tissue Pathophysiology., Isotta Chimenti, Susanne Sattler, Gonzalo Del Monte-Nieto, and Elvira Forte
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice., Hui-Lin Chin, Nour Gazzaz, Stephanie Huynh, Iulia Handra, Lynn Warnock, Ashley Moller-Hansen, Pierre Boerkoel, Julius O B Jacobsen, Christèle du Souich, Nan Zhang, Kent Shefchek, Leah M Prentice, Nicole Washington, Melissa Haendel, Linlea Armstrong, Lorne Clarke, Wenhui Laura Li, Damian Smedley, Peter N Robinson, and Cornelius F Boerkoel
An expansion of the non-coding genome and its regulatory potential underlies vertebrate neuronal diversity., Michael Closser, Yuchun Guo, Ping Wang, Tulsi Patel, Sumin Jang, Jennifer Hammelman, Joriene C De Nooij, Rachel Kopunova, Esteban O Mazzoni, Yijun Ruan, David K Gifford, and Hynek Wichterle
CRISPR-mediated multiplexed live cell imaging of nonrepetitive genomic loci with one guide RNA per locus., Patricia A Clow, Menghan Du, Nathaniel L. Jillette, Aziz Taghbalout, Jacqueline J Zhu, and Albert Cheng
Risk of new-onset psychiatric sequelae of COVID-19 in the early and late post-acute phase., Ben D Coleman, Elena Casiraghi, Hannah Blau, Lauren Chan, Melissa A Haendel, Bryan Laraway, Tiffany J Callahan, Rachel R Deer, Kenneth J Wilkins, Justin Reese, and Peter N Robinson
A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction, Gayle B. Collin, Lanying Shi, Minzhong Yu, Nurten Akturk, Jeremy R. Charette, Lillian F Hyde, Sonia M Weatherly, Martin Pera, Juergen K. Naggert, Neal S Peachey, Patsy M. Nishina, and Mark P. Krebs
A Bayesian model selection approach to mediation analysis., Wesley L Crouse, Gregory R Keele, Madeleine S Gastonguay, Gary Churchill, and William Valdar
Metagenomics and chemotherapy-induced nausea: A roadmap for future research., Sylvia L Crowder, Aasha I Hoogland, Taylor L Welniak, Elizabeth A LaFranchise, Kristen M Carpenter, Daneng Li, Daniel M Rotroff, Arshiya Mariam, Christine M Pierce, Stacy M Fischer, Anita Y Kinney, Thi Dong Binh Tran, Farzaneh Rastegari, Donna L Berry, Martine Extermann, Richard D Kim, Danielle B Tometich, Jane C Figueiredo, Jameel Muzaffar, Shahla Bari, Kea Turner, George M. Weinstock, and Heather S L Jim
Antibody Responses to SARS-CoV-2 After Infection or Vaccination in Children and Young Adults With Inflammatory Bowel Disease., Joelynn Dailey, Lina Kozhaya, Mikail Dogan, Dena Hopkins, Blaine Lapin, Katherine Herbst, Michael Brimacombe, Kristen Grandonico, Fatih Karabacak, John Schreiber, Bruce Tsan-Liang Liang, Juan C Salazar, Derya Unutmaz, and Jeffrey S Hyams
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing., Daniel Danis, Julius O B Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J Lyon, Ingo Helbig, Christopher J Mungall, Christine R Beck, Charles Lee, Damian Smedley, and Peter N Robinson
A New Standardized Clinical Model for Evaluation of Nerve Guides: A Single-Blinded Randomized Controlled Prospective Study., Khaled Dastagir, Christine Radtke, Nadjib Dastagir, Vesna Bucan, Sarah Strauß, Andreas Jokuszies, and Peter Maria Vogt
Tissue origin of cytotoxic natural killer cells dictates their differential roles in mouse digit tip regeneration and progenitor cell survival., Nadjib Dastagir, Zachery Beal, and James W Godwin
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant., Elke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, Leslie Matalonga, Steve Laurie, Solve-RD SNV-indel working group, Daniel Danis, Peter N Robinson, and Solve-RD-DITF ITHACA
Distinct toll-like receptor signaling in the salamander response to tissue damage., Ryan J Debuque, Sergej Nowoshilow, Katya E Chan, Nadia Rosenthal, and James W Godwin
Why it is important to study human-monkey embryonic chimeras in a dish., Alejandro De Los Angeles, Alan Regenberg, Victoria Mascetti, Nissim Benvenisty, George Church, Hongkui Deng, Juan Carlos Izpisua Belmonte, Weizhi Ji, Julian Koplin, Yuin-Han Loh, Yuyu Niu, Duanqing Pei, Martin Pera, Nam Pho, Carlos Pinzon-Arteaga, Mitinori Saitou, Jose C R Silva, Tan Tao, Alan Trounson, Tushar Warrier, and Elias T Zambidis
MusMorph, a database of standardized mouse morphology data for morphometric meta-analyses., Jay Devine, Marta Vidal-García, Wei Liu, Amanda Neves, Lucas D Lo Vercio, Rebecca M Green, Heather A Richbourg, Marta Marchini, Colton M Unger, Audrey C Nickle, Bethany Radford, Nathan M Young, Paula N Gonzalez, Robert E Schuler, Alejandro Bugacov, Campbell Rolian, Christopher J Percival, Trevor Williams, Lee Niswander, Anne L Calof, Arthur D Lander, Axel Visel, Frank R Jirik, James M Cheverud, Ophir D Klein, Ramon Y Birnbaum, Amy E Merrill, Rebecca R Ackermann, Daniel Graf, Myriam Hemberger, Wendy Dean, Nils D Forkert, Stephen A. Murray, Henrik Westerberg, Ralph S Marcucio, and Benedikt Hallgrímsson
Biofabrication of 3D breast cancer models for dissecting the cytotoxic response of human T cells expressing engineered MAIT cell receptors., Madhuri Dey, Myong Hwan Kim, Momoka Nagamine, Ece Karhan, Lina Kozhaya, Mikail Dogan, Derya Unutmaz, and Ibrahim T Ozbolat
Chemotherapeutics and CAR-T Cell-Based Immunotherapeutics Screening on a 3D Bioprinted Vascularized Breast Tumor Model, Madhuri Dey, Myoung Hwan Kim, Mikail Dogan, Momoka Nagamine, Lina Kozhaya, Nazmiye Celik, Derya Unutmaz, and Ibrahim T. Ozbolat
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology., Ferdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, Isabel Filges, Teresa N Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau, Pilar Cacheiro, Leigh Carmody, Sophie Collardeau-Frachon, Esther A Dempsey, Andreas Dufke, Michael Henri Duyzend, Mirna El Ghosh, Jessica L Giordano, Ragnhild Glad, Ieva Grinfelde, Dominic G Iliescu, Markus S Ladewig, Monica C Munoz-Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodo, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole A Vasilevsky, Ronald J Wapner, Roni Zemet, Melissa A Haendel, and Peter N Robinson
The Immune Signatures data resource, a compendium of systems vaccinology datasets., Joann Diray-Arce, Helen E R Miller, Evan Henrich, Bram Gerritsen, Matthew P Mulè, Slim Fourati, Jeremy Gygi, Thomas Hagan, Lewis Tomalin, Dmitry Rychkov, Dmitri Kazmin, Daniel G Chawla, Hailong Meng, Patrick Dunn, John Campbell, the Human Immunology Project Consortium (HIPC), Minnie Sarwal, John S Tsang, Ofer Levy, Bali Pulendran, Rafick Sekaly, Aris Floratos, Raphael Gottardo, Steven H Kleinstein, and Mayte Suárez-Fariñas
Engineering Human MAIT Cells with Chimeric Antigen Receptors for Cancer Immunotherapy., Mikail Dogan, Ece Karhan, Lina Kozhaya, Lindsey Placek, Xin Chen, Mesut Yigit, and Derya Unutmaz
Targeting SARS-CoV-2 infection through CAR-T-like bispecific T cell engagers incorporating ACE2., Mikail Dogan, Lina Kozhaya, Lindsey Placek, Fatih Karabacak, Mesut Yigit, and Derya Unutmaz
A microbiome-dependent gut-brain pathway regulates motivation for exercise., Lenka Dohnalová, Patrick Lundgren, Jamie R E Carty, Nitsan Goldstein, Sebastian L Wenski, Pakjira Nanudorn, Sirinthra Thiengmag, Kuei-Pin Huang, Lev Litichevskiy, Hélène C Descamps, Karthikeyani Chellappa, Ana Glassman, Susanne Kessler, Jihee Kim, Timothy O Cox, Oxana Dmitrieva-Posocco, Andrea C Wong, Erik L Allman, Soumita Ghosh, Nitika Sharma, Kasturi Sengupta, Belinda Cornes, Nitai Dean, Gary Churchill, Tejvir S Khurana, Mark A Sellmyer, Garret A FitzGerald, Andrew D Patterson, Joseph A Baur, Amber L Alhadeff, Eric J N Helfrich, Maayan Levy, J Nicholas Betley, and Christoph A Thaiss
The EurOPDX Data Portal: an open platform for patient-derived cancer xenograft data sharing and visualization., Zdenka Dudová, Nathalie Conte, Jeremy Mason, Dalibor Stuchlík, Radim Peša, Csaba Halmagyi, Zinaida Perova, Abayomi Mosaku, Ross Thorne, Alex Follette, Ľuboslav Pivarč, Radim Šašinka, Muhammad Usman, Steven Neuhauser, Dale A. Begley, Debra M Krupke, Massimiliano Frassà, Alessandro Fiori, Riccardo Corsi, Luca Vezzadini, Claudio Isella, Andrea Bertotti, Carol J Bult, Helen Parkinson, Enzo Medico, Terrence Meehan, and Aleš Křenek
Nfkbid Overexpression in Nonobese Diabetic Mice Elicits Complete Type 1 Diabetes Resistance in Part Associated with Enhanced Thymic Deletion of Pathogenic CD8 T Cells and Increased Numbers and Activity of Regulatory T Cells., Jennifer R Dwyer, Jeremy Racine, Harold D Chapman, Anna Quinlan, Maximiliano Presa, Grace Stafford, Ingo Schmitz, and David V. Serreze
Comparative transmissibility of SARS-CoV-2 variants Delta and Alpha in New England, USA., Rebecca Earnest, Rockib Uddin, Nicholas Matluk, Nicholas Renzette, Sarah E Turbett, Katherine J Siddle, Christine Loreth, Gordon Adams, Christopher H Tomkins-Tinch, Mary E Petrone, Jessica E Rothman, Mallery I Breban, Robert Tobias Koch, Kendall Billig, Joseph R Fauver, Chantal B F Vogels, Kaya Bilguvar, Bony De Kumar, Marie L Landry, David R Peaper, Kevin Kelly, Greg Omerza, Heather Grieser, Sim Meak, John Martha, Hannah B Dewey, Susan Kales, Daniel Berenzy, Kristin Carpenter-Azevedo, Ewa King, Richard C Huard, Vlad Novitsky, Mark Howison, Josephine Darpolor, Akarsh Manne, Rami Kantor, Sandra C Smole, Catherine M Brown, Timelia Fink, Andrew S Lang, Glen R Gallagher, Virginia E Pitzer, Pardis C Sabeti, Stacey Gabriel, Bronwyn L MacInnis, New England Variant Investigation Team, Ryan Tewhey, Mark D Adams, Daniel J Park, Jacob E Lemieux, and Nathan D Grubaugh
Sex differences in the genetic architecture of cognitive resilience to Alzheimer's disease., Jaclyn M Eissman, Logan Dumitrescu, Emily R Mahoney, Alexandra N Smith, Shubhabrata Mukherjee, Michael L Lee, Phoebe Scollard, Seo Eun Choi, William S Bush, Corinne D Engelman, Qiongshi Lu, David W Fardo, Emily H Trittschuh, Jesse Mez, Catherine C Kaczorowski, Hector Hernandez Saucedo, Keith F Widaman, Rachel F Buckley, Michael J Properzi, Elizabeth C Mormino, Hyun Sik Yang, Theresa M Harrison, Trey Hedden, Kwangsik Nho, Shea J Andrews, Douglas Tommet, Niran Hadad, R Elizabeth Sanders, Douglas M Ruderfer, Katherine A Gifford, Xiaoyuan Zhong, Neha S Raghavan, Badri N Vardarajan, Margaret A Pericak-Vance, Lindsay A Farrer, Li San Wang, Carlos Cruchaga, Gerard D Schellenberg, Nancy J Cox, Jonathan L Haines, C Dirk Keene, Andrew J Saykin, Eric B Larson, Reisa A Sperling, Richard Mayeux, Michael L Cuccaro, David A Bennett, Julie A Schneider, Paul K Crane, Angela L Jefferson, and Timothy J Hohman
Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners., Badam Enkhmandakh, Paul Robson, Pujan Joshi, Anushree Vijaykumar, Dong-Guk Shin, Mina Mina, and Dashzeveg Bayarsaihan
Deep learning trained on hematoxylin and eosin tumor region of Interest predicts HER2 status and trastuzumab treatment response in HER2+ breast cancer., Saman Farahmand, Aileen I Fernandez, Fahad Shabbir Ahmed, David L Rimm, Jeffrey H Chuang, Emily Reisenbichler, and Kourosh Zarringhalam
APOE ε4 and exercise interact in a sex-specific manner to modulate dementia risk factors, Kate E Foley, Cory A Diemler, Amanda A Hewes, Dylan Garceau, Michael Sasner, and Gareth R Howell
The APOEε3/ε4 Genotype Drives Distinct Gene Signatures in the Cortex of Young Mice, Kate E Foley, Amanda A Hewes, Dylan Garceau, Kevin P Kotredes, Gregory W. Carter, Michael Sasner, and Gareth R Howell
Advancing clinical and translational research in germ cell tumours (GCT): recommendations from the Malignant Germ Cell International Consortium., Adriana Fonseca, João Lobo, Florette K Hazard, Joanna J Gell, Peter K Nicholls, Robert S Weiss, Lindsay Klosterkemper, Samuel L Volchenboum, James C Nicholson, A Lindsay Frazier, James F Amatruda, Aditya Bagrodia, Michelle Lockley, and Matthew J Murray
Deep learning features encode interpretable morphologies within histological images., Ali Foroughi Pour, Brian S White, Jonghanne Park, Todd B Sheridan, and Jeffrey H Chuang
Adult mouse fibroblasts retain organ-specific transcriptomic identity., Elvira Forte, Mirana Ramialison, Hieu T Nim, Madison Mara, Jacky Y Li, Rachel Cohn, Sandra Daigle, Sarah Boyd, Edouard G Stanley, Andrew G Elefanty, J Travis Hinson, Mauro W Costa, Nadia Rosenthal, and Milena B Furtado
R-Loop Formation in Meiosis: Roles in Meiotic Transcription-Associated DNA Damage., Yasuhiro Fujiwara, Mary Ann Handel, and Yuki Okada
The Th1/Tfh-like biased responses elicited by the rASP-1 innate adjuvant are dependent on TRIF and Type I IFN receptor pathways., Parakkal Jovvian George, Radu Marches, Djamel Nehar-Belaid, Jacques Banchereau, and Sara Lustigman
Genome-wide transcript and protein analysis highlights the role of protein homeostasis in the aging mouse heart., Isabela Gerdes Gyuricza, Joel M Chick, Gregory R Keele, Andrew Deighan, Steven C. Munger, Ron Korstanje, Steven P Gygi, and Gary Churchill
Oral anaphylaxis to peanut in a mouse model is associated with gut permeability but not with Tlr4 or Dock8 mutations., Jake A Gertie, Biyan Zhang, Elise G Liu, Laura R Hoyt, Xiangyun Yin, Lan Xu, Lauren L Long, Arielle Soldatenko, Uthaman Gowthaman, Adam Williams, and Stephanie C Eisenbarth
High-throughput visual assessment of sleep stages in mice using machine learning., Brian Q Geuther, Mandy Chen, Raymond J Galante, Owen Han, Jie Lian, Joshy George, Allan I Pack, and Vivek Kumar
Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes, Navdeep Gogna, Sonia Weatherly, Fuxin Zhao, Gayle B. Collin, Jai Pinkney, Lisa Stone, Juergen K. Naggert, Gregory W. Carter, and Patsy M. Nishina
Lipid-laden lung mesenchymal cells foster breast cancer metastasis via metabolic reprogramming of tumor cells and natural killer cells., Zheng Gong, Qing Li, Jiayuan Shi, Edison Liu, Leonard D. Shultz, and Guangwen Ren
An Artifact in Intracellular Cytokine Staining for Studying T Cell Responses and Its Alleviation., Zheng Gong, Qing Li, Jiayuan Shi, and Guangwen Ren
Mouse mutagenesis and phenotyping to generate models of development and disease., Thomas Gridley and Stephen A. Murray
Engineering a "detect and destroy" skin probiotic to combat methicillin-resistant Staphylococcus aureus., Changhui Guan, Peter J Larson, Elizabeth Fleming, Alexander P Tikhonov, Sara Mootien, Trudy H Grossman, Caroline Golino, and Julia Oh
A human breast cancer-derived xenograft and organoid platform for drug discovery and precision oncology., Katrin P Guillen, Maihi Fujita, Andrew J Butterfield, Sandra D Scherer, Matthew H Bailey, Zhengtao Chu, Yoko S DeRose, Ling Zhao, Emilio Cortes-Sanchez, Chieh-Hsiang Yang, Jennifer Toner, Guoying Wang, Yi Qiao, Xiaomeng Huang, Jeffery A Greenland, Jeffery M Vahrenkamp, David H Lum, Rachel E Factor, Edward W Nelson, Cindy B Matsen, Jane M Poretta, Regina Rosenthal, Anna C Beck, Saundra S Buys, Christos Vaklavas, John H Ward, Randy L Jensen, Kevin B Jones, Zheqi Li, Steffi Oesterreich, Lacey E Dobrolecki, Satya S Pathi, Xing Yi Woo, Kristofer C Berrett, Mark E Wadsworth, Jeffrey H Chuang, Michael T Lewis, Gabor T Marth, Jason Gertz, Katherine E Varley, Bryan E Welm, and Alana L Welm
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity., Matthias Haimel, Julia Pazmandi, Raúl Jiménez Heredia, Jasmin Dmytrus, Sevgi Köstel Bal, Samaneh Zoghi, Paul van Daele, Tracy A Briggs, Carine Wouters, Brigitte Bader-Meunier, Florence A Aeschlimann, Roberta Caorsi, Despina Eleftheriou, Esther Hoppenreijs, Elisabeth Salzer, Shahrzad Bakhtiar, Beata Derfalvi, Francesco Saettini, Maaike A A Kusters, Reem Elfeky, Johannes Trück, Jacques G Rivière, Mirjam van der Burg, Marco Gattorno, Markus G Seidel, Siobhan Burns, Klaus Warnatz, Fabian Hauck, Paul Brogan, Kimberly C Gilmour, Catharina Schuetz, Anna Simon, Christoph Bock, Sophie Hambleton, Esther de Vries, Peter N Robinson, Marielle van Gijn, and Kaan Boztug
Epistemic Beliefs: Relationship to Future Expectancies and Quality of Life in Cancer Patients., Paul K J Han, Elizabeth Scharnetzki, Eric Anderson, John DiPalazzo, Tania D Strout, Caitlin Gutheil, F Lee Lucas, Emily A Edelman, and Jens Rueter
Epidermal Growth Factor Receptor Inhibition Is Protective in Hyperoxia-Induced Lung Injury., Zachary M Harris, Ying Sun, John Joerns, Brian Clark, Buqu Hu, Asawari Korde, Lokesh Sharma, Hyeon Jun Shin, Edward P Manning, Lindsey Placek, Derya Unutmaz, Gail Stanley, Hyung Chun, Maor Sauler, Govindarajan Rajagopalan, Xuchen Zhang, Min-Jong Kang, and Jonathan L Koff
A machine-vision-based frailty index for mice., Leinani E. Hession, Gautam S Sabnis, Gary Churchill, and Vivek Kumar
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes., Kendall Higgins, Bret A Moore, Zorana Berberovic, Hibret A Adissu, Mohammad Eskandarian, Ann M Flenniken, Andy Shao, Denise M Imai, Dave Clary, Louise Lanoue, Susan Newbigging, Lauryl M J Nutter, David J Adams, Fatima Bosch, Robert Schneider, Steve D M Brown, Mary E Dickinson, Michael Dobbie, Paul Flicek, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D Heaney, Yann Herault, Martin Hrabe de Angelis, Hsian-Jean Genie Chin, Fabio Mammano, Chuan Qin, Toshihiko Shiroishi, Radislav Sedlacek, J-K Seong, Ying Xu, K C Kent Lloyd, Colin McKerlie, and Ala Moshiri
An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models., Timothy J Hines, Cathleen Lutz, Stephen A. Murray, and Robert W. Burgess
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1., Timothy J Hines, Abigail L D Tadenev, Museer A Lone, Courtney L Hatton, Inseyah Bagasrawala, Morgane G. Stum, Kathy E Miers, Thorsten Hornemann, and Robert W. Burgess
Molecular genetic mechanisms of dilated cardiomyopathy., John Travis Hinson
Family Screening in DCM: Can Genetics and Baseline Clinical Data Assist Prognostication and Surveillance Planning?, J Travis Hinson and Lisa M. Wren
Sex Differences in the Brain Transcriptome Related to Alcohol Effects and Alcohol Use Disorder., Robert Hitzemann, Susan E Bergeson, Ari E Berman, Jason A. Bubier, Elissa J Chesler, Deborah A Finn, Matthew Hein, Paula Hoffman, Andrew Holmes, Brent R Kisby, Denesa Lockwood, Kerrie H Lodowski, Michelle McManus, Julie A Owen, Angela R Ozburn, Praneetha Panthagani, Igor Ponomarev, Laura Saba, Boris Tabakoff, Aashlesha Walchale, Robert W Williams, and Tamara J Phillips
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)., Peter Horak, Malachi Griffith, Arpad M Danos, Beth A Pitel, Subha Madhavan, Xuelu Liu, Cynthia Chow, Heather Williams, Leigh Carmody, Lisa Barrow-Laing, Damian Rieke, Simon Kreutzfeldt, Albrecht Stenzinger, David Tamborero, Manuela Benary, Padma Sheila Rajagopal, Cristiane M Ida, Harry Lesmana, Laveniya Satgunaseelan, Jason D Merker, Michael Y Tolstorukov, Paulo Vidal Campregher, Jeremy L Warner, Shruti Rao, Maya Natesan, Haolin Shen, Jeffrey Venstrom, Somak Roy, Kayoko Tao, Rashmi Kanagal-Shamanna, Xinjie Xu, Deborah I Ritter, Kym Pagel, Kilannin Krysiak, Adrian Dubuc, Yassmine M Akkari, Xuan Shirley Li, Jennifer Lee, Ian King, Gordana Raca, Alex H Wagner, Marylin M Li, Sharon E Plon, Shashikant Kulkarni, Obi L Griffith, Debyani Chakravarty, and Dmitriy Sonkin
Programmable RNA-Guided Large DNA Transgenesis by CRISPR/Cas9 and Site-Specific Integrase Bxb1., Vishnu Hosur, Benjamin E. Low, and Michael V. Wiles
What Makes a Functional Gene Regulatory Network? A Circuit Motif Analysis., Lijia Huang, Benjamin Clauss, and Mingyang Lu
Identifying susceptibility genes for essential hypertension by transcriptome-wide association study., Lu-Jie Huang, Qiao-Xia Zhang, Robert K Valenzuela, Jia-Chen Xu, Fang Yan, and Jie Ma
A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice, Lillian F Hyde, Yang Kong, Lihong Zhao, Sriganesh Ramachandra Rao, Jieping Wang, Lisa Stone, Andrew Njaa, Gayle B. Collin, Mark P. Krebs, Bo Chang, Steven J Fliesler, Patsy M. Nishina, and Juergen K. Naggert
The GA4GH Phenopacket schema defines a computable representation of clinical data., Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Orion J Buske, Tiffany J Callahan, Christopher G Chute, Mélanie Courtot, Daniel Danis, Olivier Elemento, Andrea Essenwanger, Robert R Freimuth, Michael Gargano, Tudor Groza, Ada Hamosh, Nomi L Harris, Rajaram Kaliyaperumal, Kevin C Kent Lloyd, Aly Khalifa, Peter M Krawitz, Sebastian Köhler, Brian J Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A McMurry, Alejandro Metke-Jimenez, Christopher J Mungall, Monica C Munoz-Torres, Soichi Ogishima, Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosinach, Marco Roos, Julian Sass, Paul N Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay D Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M Swietlik, Sylvia Thun, Nicole A Vasilevsky, Alex H Wagner, Jeremy L Warner, Claus Weiland, GAGH Phenopacket Modeling Consortium, Melissa A Haendel, and Peter N Robinson
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease., Julius O B Jacobsen, Catherine Kelly, Valentina Cipriani, Genomics England Research Consortium, Christopher J Mungall, Justin Reese, Daniel Danis, Peter N Robinson, and Damian Smedley
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases., Julius O B Jacobsen, Catherine Kelly, Valentina Cipriani, Peter N Robinson, and Damian Smedley