• bioRxiv  ·  May 16, 2025  ·  Preprint

    Single-Cell RNA Sequencing and Inferred Protein Activity Analysis Reveal a Distinct Tumor Phenotype in Early-Onset Colorectal Cancer Patients.

    David A Cohen, Aleksandar Obradovic, Luka Jovanovic, Yosuke Mitani, Tianxia Li, Soobeom Lee, Dechokyab De, Casidhe-Nicole Bethancourt, Alice Shin, Karen Dunbar, Francesco Cambuli, Christopher Lengner, Ning Li, Caitlin Rogers, Jennifer Ho, Viktoria Jakubikova, Emma Blystone, Yoanna Pumpalova, Beatrice Dionigi, Sanja Vicković, Chia-Wei Cheng, Joel Gabre

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  • Nature Genetics  ·  May 16, 2025

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

    Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, … Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz, Madeleine Harris, Julia Hentschel, Bénédicte Héron, Marc-Phillip Hitz, A. Micheil Innes, Vincent Jadas, Louis Januel, Nolwenn Jean-Marçais, Vaidehi Jobanputra, … Rami Abou Jamra, Delphine Héron, Cyril Mignot, Pierre Blanc, Anne O’Donnell-Luria, Nicola Whiffin, Camille Charbonnier, Clément Charenton, Julien Thevenon & Christel Depienne

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  • Neurobiology of Disease  ·  May 15, 2025

    Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice

    Markus Terrey, Georgii Krivoshein, Scott I. Adamson, Elena Arystarkhova, Laura 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, Cathleen M. Lutz

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  • Nature Genetics  ·  May 13, 2025

    Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder.

    Nora I. Strom, Zachary F. Gerring, Marco Galimberti, Dongmei Yu, Matthew W. Halvorsen, Abdel Abdellaoui, Cristina Rodriguez-Fontenla, Julia M. Sealock, Tim Bigdeli, Jonathan R. Coleman, Behrang Mahjani, Jackson G. Thorp, Katharina Bey, Christie L. Burton, Jurjen J. Luykx, Gwyneth Zai, Silvia Alemany, Christine Andre, Kathleen D. Askland, Julia Bäckman, Nerisa Banaj, Cristina Barlassina, Judith Becker Nissen, O. Joseph Bienvenu, Donald Black, Michael H. Bloch, Sigrid Børte, Rosa Bosch, Michael Breen, Brian P. Brennan, Helena Brentani, Joseph D. Buxbaum, Jonas Bybjerg-Grauholm, Enda M. Byrne, Judit Cabana-Dominguez, Beatriz Camarena, Adrian Camarena, Carolina Cappi, Angel Carracedo, Miguel Casas, Maria Cristina Cavallini, Valentina Ciullo, Edwin H. Cook, Jesse Crosby, Bernadette A. Cullen, Elles J. De Schipper, Richard Delorme, Srdjan Djurovic, Jason A. Elias, Xavier Estivill, Martha J. Falkenstein, Bengt T. Fundin, Lauryn Garner, Christina Gironda, Fernando S. Goes, Marco A. Grados, Jakob Grove, Wei Guo, Jan Haavik, Kristen Hagen, Kelly Harrington, Alexandra Havdahl, Kira D. Höffler, Ana G. Hounie, Donald Hucks, Christina Hultman, Magdalena Janecka, Eric Jenike, Elinor K. Karlsson, Kara Kelley, Julia Klawohn, Janice E. Krasnow, Kristi Krebs, Christoph Lange, Nuria Lanzagorta, Daniel Levey, Kerstin Lindblad-Toh, Fabio Macciardi, Brion Maher, Brittany Mathes, Evonne McArthur, Nathaniel McGregor, Nicole C. McLaughlin, Sandra Meier, Euripedes C. Miguel, Maureen Mulhern, Paul S. Nestadt, Erika L. Nurmi, Kevin S. O’Connell, Lisa Osiecki, Olga Therese Ousdal, Teemu Palviainen, Nancy L. Pedersen, Fabrizio Piras, Federica Piras, Sriramya Potluri, Raquel Rabionet, Alfredo Ramirez, Scott Rauch, Abraham Reichenberg, Mark A. Riddle, Stephan Ripke, Maria C. Rosário, Aline S. Sampaio, Miriam A. Schiele, Anne Heidi Skogholt, Laura G. Sloofman, Jan Smit, María Soler Artigas, Laurent F. Thomas, Eric Tifft, Homero Vallada, Nathanial van Kirk, Jeremy Veenstra-VanderWeele, Nienke N. Vulink, Christopher P. Walker, Ying Wang, Jens R. Wendland, Bendik S. Winsvold, Yin Yao, Hang Zhou, Estonian Biobank, 23andMe Inc., Arpana Agrawal, Pino Alonso, Götz Berberich, Kathleen K. Bucholz, Cynthia M. Bulik, Danielle Cath, Damiaan Denys, Valsamma Eapen, Howard Edenberg, Peter Falkai, Thomas V. Fernandez, Abby J. Fyer, J. M. Gaziano, Dan A. Geller, Hans J. Grabe, Benjamin D. Greenberg, Gregory L. Hanna, Ian B. Hickie, David M. Hougaard, Norbert Kathmann, James Kennedy, Dongbing Lai, Mikael Landén, Stéphanie Le Hellard, Marion Leboyer, Christine Lochner, James T. McCracken, Sarah E. Medland, Preben B. Mortensen, Benjamin M. Neale, Humberto Nicolini, Merete Nordentoft, Michele Pato, Carlos Pato, David L. Pauls, John Piacentini, Christopher Pittenger, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Steven A. Rasmussen, Margaret A. Richter, David R. Rosenberg, Stephan Ruhrmann, Jack F. Samuels, Sven Sandin, Paul Sandor, Gianfranco Spalletta, Dan J. Stein, S. Evelyn Stewart, Eric A. Storch, Barbara E. Stranger, Maurizio Turiel, Thomas Werge, Ole A. Andreassen, Anders D. Børglum, Susanne Walitza, Kristian Hveem, Bjarne K. Hansen, Christian Rück, Nicholas G. Martin, Lili Milani, Ole Mors, Ted Reichborn-Kjennerud, Marta Ribasés, Gerd Kvale, David Mataix-Cols, Katharina Domschke, Edna Grünblatt, Michael Wagner, John-Anker Zwart, Gerome Breen, Gerald Nestadt, Jaakko Kaprio, Paul D. Arnold, Dorothy E. Grice, James A. Knowles, Helga Ask, Karin J. Verweij, Lea K. Davis, Dirk J. Smit, James J. Crowley, Jeremiah M. Scharf, Murray B. Stein, Joel Gelernter, Carol A. Mathews, Eske M. Derks & Manuel Mattheisen

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  • Nature Biotechnology  ·  May 12, 2025

    Droplet Hi-C enables scalable, single-cell profiling of chromatin architecture in heterogeneous tissues.

    Lei Chang, Yang Xie, Brett Taylor, Zhaoning Wang, Jiachen Sun, Ethan J. Armand, Shreya Mishra, Jie Xu, Melodi Tastemel, Audrey Lie, Zane A. Gibbs, Hannah S. Indralingam, Tuyet M. Tan, Rafael Bejar, Clark C. Chen, Frank B. Furnari, Ming Hu & Bing Ren

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  • bioRxiv  ·  May 8, 2025  ·  Preprint

    A computational framework for mapping isoform landscape and regulatory mechanisms from spatial transcriptomics data.

    Jiayu Su, Yiming Qu, Megan D Schertzer, Haochen Yang, Jiahao Jiang, Tenzin Lhakhang, Theodore M Nelson, Stella Park, Qiliang Lai, Xi Fu, Seung-Won Choi, David A Knowles, Raul Rabadan

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  • Nature Genetics  ·  May 12, 2025

    Three-dimensional genome landscape of primary human cancers.

    Kathryn E. Yost, Yanding Zhao, King L. Hung, Kaiyuan Zhu, Duo Xu, M. Ryan Corces, Shadi Shams, Bryan H. Louie, Shahab Sarmashghi, Laksshman Sundaram, Jens Luebeck, Stanley Clarke, Ashley S. Doane, Jeffrey M. Granja, Hani Choudhry, Marcin Imieliński, Andrew D. Cherniack, Ekta Khurana, Vineet Bafna, Ina Felau, Jean C. Zenklusen, Peter W. Laird, Christina Curtis, Cancer Genome Atlas Analysis Network, William J. Greenleaf & Howard Y. Chang

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  • Cell Reports  ·  May 12, 2025

    Fitness and transcriptional plasticity of human breast cancer single-cell-derived clones.

    Long V Nguyen, Yaniv Eyal-Lubling, Daniel Guerrero-Romero, Sarah Kronheim, Suet-Feung Chin, Raquel Manzano Garcia, Stephen-John Sammut, Giulia Lerda, Allan J W Lui, Helen A Bardwell, Wendy Greenwood, Hee Jin Shin, Riccardo Masina, Katarzyna Kania, Alejandra Bruna, Elham Esmaeilishirazifard, Emily A Kolyvas, Samuel Aparicio, Oscar M Rueda, Carlos Caldas

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  • medRxiv  ·  May 11, 2025  ·  Preprint

    Single cell multiomics reveals drivers of metabolic dysfunction-associated steatohepatitis.

    Weston Elison, Lei Chang, Yang Xie, Charlene Miciano, Qian Yang, Hannah Mummey, Ryan Lancione, Sierra Corban, Sadatsugu Sakane, Jacinta Lucero, Sainath Mamde, Hyun Kim, Matthew J Kim, Rebecca Melton, Luca Tucciarone, Audrey Lie, Timothy Loe, Tanmayi Vashist, Kelsey Dang, Ruth M Elgamal, Daofeng Li, Melissa Vu, Elie N Farah, Chad Seng, Jovina Djulamsah, Bing Yang, Justin Buchanan, Michael Miller, Mai Tran, Janeth Birrueta, Neil C Chi, Ting Wang, Agnieszka D’Antonio-Chronowska, Allen Wang, Tatiana Kisseleva, David Brenner, Bing Ren, Kyle Gaulton

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  • Nature Genetics  ·  May 9, 2025

    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 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, Roel G. W. Verhaak, Antonio Iavarone, Mario L. Suvà & Itay Tirosh

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  • medRxiv  ·  May 9, 2025  ·  Preprint

    Single cell multiomics and 3D genome architecture reveal novel pathways of human heart failure.

    Yang Xie, Luca Tucciarone, Elie N Farah, Lei Chang, Qian Yang, Thirupura S Shankar, Weston Elison, Shaina Tran, Jovina Djulamsah, Audrey Lie, Timothy Loe, Alyssa R Holman, Sierra Corban, Justin Buchanan, Sainath Mamde, Haowen Zhou, Ruth M Elgamal, Eleni Tseliou, Vincent Huang, Zhaoning Wang, Jeffrey Chiu, Rebecca Melton, Emily Griffin, Qingquan Zhang, Jacinta Lucero, Sutip Navankasattusas, Daofeng Li, Chanrung Seng, Eugin Destici, Craig H Selzman, Agnieszka D’Antonio-Chronowska, Ting Wang, Allen Wang, Stavros G Drakos, Kyle J Gaulton, Bing Ren, Neil C Chi

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  • Nature Genetics  ·  May 9, 2025

    Deciphering the longitudinal trajectories of glioblastoma ecosystems by integrative single-cell genomics.

    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 & Itay Tirosh

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  • bioRxiv  ·  May 8, 2025

    INLAomics for Scalable and Interpretable Spatial Multiomic Data Integration.

    Lukas Arnroth, Sanja Vicković

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  • Nature Human Behaviour

    Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry.

    Anna Gui, Anja Hollowell, Emilie M. Wigdor, Morgan J. Morgan, Laurie J. Hannigan, Elizabeth C. Corfield, Veronika Odintsova, Jouke-Jan Hottenga, Andrew Wong, René Pool, Harriet Cullen, Siân Wilson, Varun Warrier, Espen M. Eilertsen, Ole A. Andreassen, Christel M. Middeldorp, Beate St Pourcain, Meike Bartels, Dorret I. Boomsma, Catharina A. Hartman, Elise B. Robinson, Tomoki Arichi, Anthony D. Edwards, Mark H. Johnson, Frank Dudbridge, Stephan J. Sanders, Alexandra Havdahl & Angelica Ronald

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  • Nature  ·  May 7, 2025

    Dopamine D1–D2 signalling in hippocampus arbitrates approach and avoidance.

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  • biorXiv  ·  May 5, 2025  ·  Preprint

    CRISPRi perturbation screens and eQTLs provide complementary and distinct insights into GWAS target genes.

    Samuel Ghatan, Jasper Panten, Winona Oliveros, Neville E Sanjana, John A Morris, Tuuli Lappalainen

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  • bioRxiv  ·  May 2, 2025

    Spatial transcriptomics and genetically implicated genes identify putative causal tissue structures for complex traits.

    Linda Kvastad, Aaron Kollotzek, Rasool Saghaleyni, Chih-Fan Chang, Tianze Cao, Tuuli Lappalainen

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  • Brachytherapy  ·  April 28, 2025

    3D HDR brachytherapy for cervical cancer in LMIC: Audit of a single institution experience in Lagos, Nigeria.

    Adedayo Joseph, Chika Nwachukwu, Bolanle Adegboyega, Omolola Salako, Temitope Andero, Adewumi Alabi, Azeezat Ajose, Samuel Adeneye, Nusirat Adedewe, Abdallah Kotkat, Aishat Oladipo, Omoruyi Credit Irabor, Muhammad Habeebu, David Puthoff, Adedayo Onitilo, Wilfred Ngwa, Onyinye Balogun

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  • bioRxiv  ·  April 22, 2025  ·  Preprint

    Oncogenic mutations disrupt lineage differentiation via epigenetic perturbations.

    Lingjun Meng, Sylvia Katina Plevritis, Alice Yu, Jodie Meng, Yongjin Yoo, Justyna Janas, David A Knowles, Huanwei Huang, Katie Marie Schaukowitch

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  • bioRxiv  ·  April 19, 2025  ·  Preprint

    Genome-wide mapping of mesoscale neuronal RNA organization and condensation.

    Lindsay A. Becker, Sofia A. Quinodoz, Troy J. Comi, Ofer Kimchi, David A. Knowles, Clifford P. Brangwynne

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  • medRxiv  ·  April 16, 2025  ·  Preprint

    Convex approaches to isolate the shared and distinct genetic structures of subphenotypes in heterogeneous complex traits.

    Saikat Banerjee, Shane O’Connell, Sarah Colbert, Niamh Mullins, David A Knowles

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