• bioRxiv  ·  November 5, 2025  ·  Preprint

    Distinct patterns of de novo coding variants contribute to Tourette Syndrome etiology.

    Lingyu Zhan, Dongmei Yu, Franjo Ivankovic, Maria Niarchou, Laura Domenech-Salgado, Cathy L. Barr, Fortu Benarroch, Cathy L. Budman, Danielle C. Cath, Nelson B. Freimer, Helena Garrido, Marco A. Grados, Varda Gross-Tsur, Luis Herrera-Amighetti, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, William M. McMahon, David L. Pauls, Yehuda Pollak, Mary M. Robertson, Roxana Romero, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Paola Giusti-Rodriguez, Lea K. Davis, Carol A. Mathews, Jeremiah M. Scharf, Roel A. Ophoff

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  • bioRxiv  ·  November 5, 2025  ·  Preprint

    Large-scale discovery of neural enhancers for cis-regulation therapies.

    Troy A. McDiarmid, Nicholas F. Page, Florence M. Chardon, Riza M. Daza, George T. Chen, Michael Kosicki, Lucas M. James, Hannah C. Nourie, Dianne Laboy-Cintron, Arthur S. Lee, Paula Vij, Diego Calderon, Jean-Benoit Lalanne, Beth K. Martin, Kyle Fink, Michael E. Talkowski, Alysson R. Muotri, Benjamin D. Philpot, Len A. Pennacchio, Daniel H. Geschwind, Stephan J. Sanders, Nadav Ahituv, Jay Shendure.

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  • medRxiv  ·  November 5, 2025  ·  Preprint

    Genome-wide association studies of binge-eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

    Jet D Termorshuizen, Helena L Davies, Sang-Hyuck Lee, Jessica K Dennis, Christopher Hübel, Jessica S Johnson, Yi Lu, Melissa A Munn-Chernoff, Triinu Peters, Baiyu Qi, Katherine E Schaumberg, Rebecca H Signer, Karanvir Singh, Abigail R ter Kuile, Laura M Thornton, Jiayi Xu, Shuyang Yao, Zeynep Yilmaz, Ruyue Zhang, Johan Zvrskovec, Mohamed Abdulkadir, Ziada Ayorech, Elizabeth C Corfield, Alexandra Havdahl, Kristi Krebs, Taralynn M Mack, Maria Niarchou, Teemu Palviainen, Julia M Sealock, Jessica H Baker, Andrew W Bergen, Andreas Birgegård, Vesna Boraska Perica, Katharina Bühren, Roland Burghardt, Matteo Cassina, Enrico Collantoni, James J Crowley, Unna N Danner, Franziska Degenhardt, Janiece E DeSocio, Christian Dina, Monika Dmitrzak-Węglarz, Laramie E Duncan, Karin M Egberts, Lenka Foretova, Ina Giegling, Fragiskos Gonidakis, Scott D Gordon, Jakob Grove, Sébastien Guillaume, Jerry D Guintivano, Annette M Hartmann, Konstantinos Hatzikotoulas, Stefan Herms, Hartmut Imgart, Susana Jiménez-Murcia, Antonio Julià, Gursharan Kalsi, Deborah Kaminská, Leila J Karhunen, Hannah Kennedy, Kirsty M Kiezebrink, Theresa Kolb, Janne T Larsen, Dong Li, Lisa Lilenfeld, Mario Maj, Morten Mattingsdal, Paolo Meneguzzo, Allison L Miller, Karen S Mitchell, Alessio Maria Monteleone, Catherine M Olsen, Leonid Padyukov, Richard Parker, Michaela Pettie, Dalila Pinto, Anu Raevuori, Samuli Ripatti, Marion E Roberts, Paolo Santonastaso, Androula Savva, Ulrike H Schmidt, Alexandra Schosser, Jochen Seitz, Lenka LS Slachtova, Agnieszka Slopien, Sandro Sorbi, Peter S Straub, Jin P Szatkiewicz, Friederike I Tam, Elena Tenconi, Alfonso Tortorella, Artemis Tsitsika, Annemarie A van Elburg, Gudrun Wagner, Hunna J Watson, Roger AH Adan, Lars Alfredsson, Ole A Andreassen, Helga Ask, Anders Børglum, Harry A Brandt, David Collier, Steven Crawford, Scott Crow, Lea K Davis, Martina de Zwaan, George Dedoussis, Danielle M Dick, Stefan Ehrlich, Xavier Estivill, Angela Favaro, Fernando Fernández-Aranda, Krista Fischer, Andreas J Forstner, Philip Gorwood, Hakon Hakonarson, Johannes Hebebrand, Beate Herpertz-Dahlmann, Anke Hinney, James I Hudson, Craig Johnson, Jennifer Jordan, Allan S Kaplan, Jaakko Kaprio, Andreas FK Karwautz, Martien JH Kas, Walter H Kaye, James L Kennedy, Martin A Kennedy, Anna Keski-Rahkonen, Youl-Ri Kim, Kelly L Klump, Mikael Landén, Stéphanie Le Hellard, Kelli Lehto, Qingqin S Li, Jolanta Lissowska, Jurjen J Luykx, Sarah L Maguire, Nicholas G Martin, Manuel Mattheisen, Sarah E Medland, Philip Mehler, Nadia Micali, James E Mitchell, Palmiero Monteleone, Preben Bo Mortensen, Benedetta Nacmias, Roel A Ophoff, Hana Papezova, Nancy L Pedersen, Liselotte V Petersen, Luisa S Rajcsanyi, Nicolas Ramoz, Ted Reichborn-Kjennerud, Valdo Ricca, Stephan Ripke, Dan Rujescu, Filip Rybakowski, Stephen W Scherer, Margarita CT Slof-Op ‘t Landt, Howard Steiger, Patrick F Sullivan, Beata Świątkowska, Eric F van Furth, Tracey D Wade, Thomas Werge, David C Whiteman, D. Blake Woodside, Ya-Ke Wu, Stephan Zipfel, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Estonian Biobank (EstBB), Cynthia M Bulik, Laura M Huckins, Gerome Breen, Jonathan RI Coleman.

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  • Cold Spring Harbor Perspectives in Biology  ·  November 3, 2025

    Glia in Neurodegenerative Disease.

    Gerard Crowley, David Attwell, Hemali Phatnani, Harald Sontheimer, and Soyon Hong.

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  • bioRxiv  ·  October 30, 2025  ·  Preprint

    Accurately modelling RNase H-mediated antisense oligonucleotide efficacy.

    Barney Hill, Maisie R Jaques, Remya R Nair, Nicola Whiffin, Matthew J. A. Wood, Stephan J Sanders, Peter L Oliver, Alyssa C Hill, Carlo Rinaldi.

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  • American Journal of Psychiatry  ·  October 29, 2025

    Characterizing the Pleiotropic Architecture of Impulsivity and Its Links to Psychopathology and Neurodevelopment.

    Travis T Mallard, Justin D Tubbs, Mariela Jennings, Yingzhe Zhang, Daniel E Gustavson, Andrew D Grotzinger, Margaret L Westwater, Camille M Williams, Rebecca G Fortgang; 23andMe Research Team; Sarah L Elson, Pierre Fontanillas, Lea K Davis, Armin Raznahan, Elliot M Tucker-Drob, Karmel W Choi, Tian Ge, Jordan W Smoller, Abraham A Palmer, Sandra Sanchez-Roige.

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  • bioRxiv  ·  October 27, 2025  ·  Preprint

    Somatic copy number mutations contribute to fitness in transplantation models of spontaneous human breast cancer metastasis

    Hoa Tran, Gurdeep Singh, Hakwoo Lee, Damian Yap, Eric Lee, William Daniels, Farhia Kabeer, Ciara H O’Flanagan, Vinci Au, Michael Van Vliet, Daniel Lai, Elena Zaikova, Sean Beatty, Esther Kong, Shuyu Fan, Jessica Chan, Hoang Quan Dang, Teresa Ruiz de Algaza, Viviana Cerda, Andrew Roth, Samuel Aparicio.

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  • Proceedings of the National Academy of Sciences of the United States of America  ·  October 28, 2025

    Genetic regulation of the estrogen receptor and inherited predisposition to breast cancer.

    Sarah B Pierce, Hannah Kortbawi, Suleyman Gulsuner, Jessica B Mandell, Ming K Lee, Tom Walsh, Mary-Claire King.

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  • bioRxiv  ·  October 21, 2025  ·  Preprint

    APOBEC3A-Induced DNA Damage Drives Polymerase Theta Dependency and Synthetic Lethality in Cancer.

    Abhishek Bose, Weisi Liu, Paul Yoo, Alina Sami, Michal T Boniecki, Madhura Deshpande, Mohamed Osman, Duy Nguyen, Urko D. Castillo, Paraskevi Giannakakou, Bhavneet Bhinder, William Hooper, Olivier Elemento, Nicolas Robine, Milaid Granadillo Rodrigue, Jeannine Gerhardt, Kent W. Mouw, Linda Chelico, Bishoy M. Faltas.

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  • Nature Neuroscience  ·  October 21, 2025

    TDP-43 loss induces cryptic polyadenylation in ALS/FTD.

    Sam Bryce-Smith, Anna-Leigh Brown, Max Z. Y. J. Chien, Dario Dattilo, Puja R. Mehta, Francesca Mattedi, Simone Barattucci, Alla Mikheenko, Matteo Zanovello, Flaminia Pellegrini, Sara Emad El-Agamy, Matthew Yome, Sarah E. Hill, Yue A. Qi, Kai Sun, Eugeni Ryadnov, Yixuan Wan, NYGC ALS Consortium, Jose Norberto S. Vargas, Nicol Birsa, Towfique Raj, Jack Humphrey, Matthew Keuss, Oscar G. Wilkins, Michael Ward, Maria Secrier & Pietro Fratta.

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  • medRxiv  ·  October 13, 2025  ·  Preprint

    Antidepressants are associated with decreased white blood cell counts beyond the effect of statins in individuals with co-morbid depression and coronary artery disease: A longitudinal analysis in the Vanderbilt University Medical Center and All of Us cohorts.

    Kritika Singh, Freida A Blostein, Quinn S Wells, Emily C Hodges, Nancy J. Cox, Lea Davis.

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  • medRxiv  ·  October 13, 2025  ·  Preprint

    Regulatory landscape of Alzheimer′s disease variants in human microglia.

    Chia-Yi Joy Lee, Ashvin Ravi, Tzu-Chieh Huang, Briana Wyman, Ariana Chriss, Jack Humphrey, David A Knowles, Chris Cotsapas, Laura M Huckins, Towfique Raj, Kristen J Brennand.

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  • Thorax  ·  October 15, 2025

    Serum IgA isotypes are associated with percent emphysema, wall thickness and lung function decline.

    Tess Pottinger, Zhonghua Liu, Lili Liu, Kristina L Buschur, Jeffrey L Curtis, Ani Manichaikul, Stephen S Rich, Victor E Ortega, Eugene R Bleecker, Deborah A Meyers, Eric A Hoffman, Benjamin Smith, Jan Novak, Krzysztof Kiryluk, R Graham Barr

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  • Nature Medicine  ·  October 16, 2025

    MRI-based multi-organ clocks for healthy aging and disease assessment.

    The MULTI Consortium, Huizi Cao, Zhiyuan Song, Michael R. Duggan, Guray Erus, Dhivya Srinivasan, Ye Ella Tian, Wenjia Bai, Michael S. Rafii, Paul Aisen, Daniel W. Belsky, Keenan A. Walker, Andrew Zalesky, Luigi Ferrucci, Christos Davatzikos & Junhao Wen.

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  • bioRxiv  ·  October 13, 2025  ·  Preprint

    Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data.

    Yoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, Stephanie J Georges, Nancy L Parmalee, Michele Berselli, Tim HH Coorens, Shihua Dong, Stephanie Gardiner, Divya Kalra, Daofeng Li, Benpeng Miao, Rajeeva Musunuri, Liying Xue, Zhi Yu, Kimberly Walker, Lisa Anderson, Natalie YT Au, Carrie Cibulskis, Harsha Doddapaneni, Christopher M Grochowski, Dana M Jensen, Tina Lindsay, Kelsey Loy, Azeet Narayan, Giuseppe Narzisi, Jeffrey Ou, Meranda M Pham, Alexi M Runnels, Andrew B Stergachis, Lila M Sutherlin, Ting Wang, Hu Jin, William C Feng, Yuwei Zhang, Alexander D Veit, Clara TaeHee Kim, Hye-Jung E Chun, Kristin Ardlie, Robert S Fulton, Soren Germer, Richard A Gibbs, Gabor T Marth, James T Bennett, Peter J Park

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  • Mol Psychiatry.  ·  October 13, 2025

    Genome-wide association studies of lifetime and frequency of cannabis use in 131,895 individuals.

    Hayley H A Thorpe, Pierre Fontanillas, John J Meredith, Mariela V Jennings, Renata B Cupertino, Shreya R Pakala; 23andMe Research Team; Sarah L Elson, Jibran Y Khokhar, Lea K Davis, Emma C Johnson, Abraham A Palmer, Sandra Sanchez-Roige.

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  • Nature  ·  October 14, 2025

    Tonic type I interferon signaling optimizes the antiviral function of plasmacytoid dendritic cells.

    Joseph N. Pucella, Raul A. Maqueda-Alfaro, Hai Ni, Fernando Bandeira Sulczewski, Anna Eichinger, Eduardo Esteva, Ai C. Ra, Annesa Das, Oriana A. Perez, Jue Feng, Marlon Stoeckius, Peter Smibert, Alireza Khodadadi-Jamayran, Igor Dolgalev, Ellie Ivanova, Stela Sota, Ken Cadwell, Sergei B. Koralov, Judy Zhong, Chetna Soni, Daniel B. Stetson, Stuart P. Weisberg, Donna L. Farber, Juliana Idoyaga & Boris Reizis.

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  • medRxiv  ·  October 13, 2025  ·  Preprint

    Genomic analyses reveal new insights into Alzheimer’s disease.

    Emil Uffelmann, Douglas P Wightman, Shahram Bahrami, Alexey A Shadrin, Vera Fominykh, Takafumi Ojima, Chenyang Jiang, Christian Benner, Elisa Moreno, Adrian I Campos, Jesper Q Thomassen, Emmanuel Minois-Genin, Hei Man Wu, G. Bragi Walters, Richard Sherva, Tian Lin, Julien Bryois, Kristi Krebs, Marijn Schipper, Akira Narita, Alessandro Serretti, Anja H Simonsen, Anna L van Seumeren, Anne Corbett, Anne-Brita Knapskog, Annette M Hartmann, Anouk den Braber, Argonde C van Harten, Arvid Harder, Arvid Rongve, Bengt O Madsen, Betty M Tijms, Bitten Aagaard, Bjorn Lichtwarck, Bjorn E Kirsebom, Byron Creese, Chandra A Reynolds, Sara Hagg, Ida Karlsson, Christian Erikstrup, Christina Mikkelsen, Clive Ballard, Dag Aarsland, Daichi Shigemizu, Dan Rujescu, Daniel Gudbjartsson, Eivind Aakhus, Erik Sorensen, Eystein Stordal, Flora H Duits, Frank J Wolters, Frederic Blanc, Geert Jan Biessels, Geir Selbaek, Geir Brathen, Gen Tamiya, Gunhild Waldemar, Harro Seelaar, Helga Eyjolfsdottir, Henne Holstege, Henning Bundgaard, Henrik Zetterberg, Henrik Ullum, Ingmar Skoog, Ingrid T Medboen, Ingvild Saltvedt, Ingvild H Feiring, Irena Rektorova, J. Michael Gaziano, Jan Haavik, Jens Hjerling-Leffler, Jiao Luo, Jon Snaedal, Everard GB Vijverberg, Julia M Sealock, Kaj Blennow, Kaja Nordengen, Karin Persson, Katja Scheffler, Koichi Matsuda, Kouichi Ozaki, Lasse Pihlstrom, Lavinia Athanasiu, Lene Palhaugen, Marc Hulsman, Margda Waern, Maria Averina, Marianne Wettergreen, Marta R Moksnes, Martijn Huisman, Masayuki Yamamoto, Mathias Toft, Matthew S Panizzon, Mie Topholm Bruun, Mohsen Ghanbari, Monique Franc, Nancy L Pedersen, Nathaniel Y Bell, Niccolo Tesi, Ole B Pedersen, Oleksandr Frei, Olivier Bousiges, Per Svenningsson, Pieter J Visser, Qingqin S Li, Richard Hauger, Rui Zhang, Shinichi Namba, Sigrid B Sando, Silke Kern, Srdjan Djurovic, Steinunn Thordardottir, Tanya N Phung, Thomas Truelsen, Thomas Werge, Thomas F Hansen, Tomoki Kyosaka, Torgeir Engstad, Tormod Fladby, Victoria Merritt, Sverre Bergh, Wiesje M van der Flier, Rujin Wang, Eli A Stahl, Basavaraj Hooli, 23andMe Research Institute, LifeLines Cohort Study, DBDS Genomic consortium, Regeneron Genetics Center, Penn Medicine Biobank, GHS-RGC DiscovEHR collaboration, Mayo Clinic-RGC Project Generation, Colorado Center for Personalized Medicine – RGC Collaboration, UCLA-RGC ATLAS collaboration, INDIANA-CHALASANI, Mount Sinai Million Health Discoveries Program, Estonian Biobank research team, VA Million Veteran Program, Lea K Davis, Mark W Logue, Kelli Lehto, Anna Zettergren, Ben M Brumpton, Jian Zeng, Peter M Visscher, Paul F O’Reilly, Anubha Mahajan, Manuel Ferreira, Yukinori Okada, Sven J van der Lee, Sisse R Ostrowski, Ruth Frikke-Schmidt, Hreinn Stefansson, Karl Heilbron, Ole A Andreassen, Danielle Posthuma.

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  • bioRxiv  ·  October 13, 2025  ·  Preprint

    Large-scale single-cell phylogenetic mapping of clonal evolution in the human aging esophagus.

    Tamara Prieto, Dennis J Yuan, John Zinno, Clayton Hughes, Nicholas Midler, Sheng Kao, Jani Huuhtanen, Ramya Raviram, Fenia Fotopoulou, Neil Ruthen, Srinivas Rajagopalan, Joshua S Schiffman, Andrew R D Avino, Sang-Ho Yoon, Jesus Sotelo, Nathaniel D Omans, Noelle Wheeler, Alejandro Garces, Barun Pradhan, Alexandre Pellan Cheng, Nicolas Robine, Catherine Potenski, Katharine Godfrey, Nobuyuki Kakiuchi, Akira Yokoyama, Seishi Ogawa, Julian Abrams, Ivan Raimondi, Dan A Landau.

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  • bioRxiv  ·  October 10, 2025  ·  Preprint

    A Physically-Realistic Simulator and Cosine-Based Decoder for MERFISH Spatial Transcriptomics.

    Jenkin Tsui, Naila Adam, Woongcheol Choi, Luna Liu, Cristina Flores, Shadi Ansari, Esther Kong, Yukta Thapliyal, Hakwoo Lee, Shahid Haider, Isaac Von Riedemann, Ciara O’Flanagan, IMAXT Cancer Grand Challenges Consortium, Samuel Aparicio, Andrew Roth.

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  • bioRxiv  ·  October 8, 2025  ·  Preprint

    African Green Monkeys Respond to Synthetic AB Oligomers with Persistent Alzheimers-like Activation.

    Bianca Brown, Xiaoting Li, Monica R Grasty, Isabela Lopez, Sara Dzigurski, Maya Geradi, Matthew Lawrence, John Elsworth, Matthew Lawrence, Micahel Weed, Gamze Gursoy, Andrew David Miranker.

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