• medRxiv  ·  June 17, 2025  ·  Preprint

    FUS Mislocalization Rewires a Cortical Gene Network to Drive Cognitive and Behavioral Impairment in ALS.

    Raphaelle Cassel, Félicie Lorenc, Aurélie Bombardier, Claudia De Tapia, Stéphane Dieterle, Cláudio Gouveia Roque, Christopher A. Jackson, Geoffrey Stuart-Lopez, Caroline Rouaux, Simon J. Guillot, Marie-Christine Birling, Pascal Kessler, Maurizio Grassano, Bryan Traynor, Adriano Chio, Raju Roy, James Shorter, Fergal M. Waldron, Jenna M. Gregory, Hemali Phatnani, Luc Dupuis, Salim Megat

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  • Prenatal Diagnosis  ·  June 12, 2025

    Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell-Silver Syndrome in Infancy.

    Amanda Thomas-Wilson, Mythily Ganapathi, Nina Harkavy, Corbin Schwanke, Jessica Giordano, Abdallah F. Elias, Ronald J. Wapner, Vaidehi Jobanputra

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  • medRxiv  ·  June 11, 2025  ·  Preprint

    GXwasR: A Toolkit for Investigating Sex-Differentiated Genetic Effects on Complex Traits.

    Banabithi Bose, Freida Bolstein, Jeewoo Kim, Jessica Winters, Ky’Era Actkins, David Mayer, Maria Niarchou, Harrshavasan T.S Congivaram, Digna R Velez Edwards, Lea Davis, Barbara Stranger

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  • Alzheimer's & Dementia  ·  June 11, 2025

    GWAS links APOE to neuropsychiatric symptoms in mild cognitive impairment and dementia

    Selina M. Vattathil, Freida Blostein, Tyne W. Miller-Fleming, Lea K. Davis, Alzheimer’s Disease Genetics Consortium (ADGC), Alzheimer’s Disease Neuroimaging Initiative, Thomas S. Wingo, Aliza P. Wingo

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  • medRxiv  ·  June 10, 2025  ·  Preprint

    Unraveling temporal dynamics of the post-mortem transcriptome in amyotrophic lateral sclerosis.

    Ting Shen, Barbara E. Spencer, Pavel P. Kuksa, Vivianna M. Van Deerlin, Hemali Phatnani, NYGC ALS Consortium, Edward B. Lee, Corey T. McMillan

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  • medRxiv  ·  June 4, 2025  ·  Preprint

    Mosaic chromosomal alterations in blood are associated with an increased risk of Alzheimer’s disease.

    Tatsuhiko Naito, Kosei Hirata, Beomjin Jang, Chirag M. Lakhani, Alice Buonfiglioli, Wan-Ping Lee, Otto Valladares, Li-San Wang, Yukinori Okada, Hong-Hee Won, Eirini P. Papapetrou, Samuele G. Marro, David A. Knowles, Towfique Raj

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  • medRxiv  ·  June 2, 2025  ·  Preprint

    Omic Risk Scores are Associated with COPD-related Traits Across Three Cohorts.

    Iain R Konigsberg, Luciana B Vargas, Katherine A Pratte, Daniel E Guzman, Tess D Pottinger, Kristina L Buschur, Thomas W Blackwell, Yongmei Liu, Kent D Taylor, W Craig Johnson, Peter Durda, Russell P Tracy, Ani Manichaikul, Elizabeth C Oelsner, Stacey Gabriel, Namrata Gupta, Suna Onengut-Gumuscu, Joshua D Smith, Francois Aguet, Kristin Ardlie, Usman A Tahir, Robert E Gerszten, Clary Clish, Eugene R Bleecker, Deborah A Meyers, Victor E Ortega, Stephanie A Christenson, Dawn L DeMeo, Brian D Hobbs, Craig P Hersh, Peter J Castaldi, Jeffrey L Curtis, R Graham Barr, Jerome I Rotter, Stephen S Rich, Prescott G Woodruff, Edwin K Silverman, Michael H Cho, Katerina J Kechris, Russell P Bowler, Ethan M Lange, Leslie A Lange, Matthew R Moll, on behalf of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium

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  • Science  ·  May 29, 2025

    Predicting expression-altering promoter mutations with deep learning.

    Kishore Jaganathan, Nicole Ersaro, Gherman Novakovsky, Yuchuan Wang, Terena James, Jeremy Schwartzentruber, Petko Fiziev, Irfahan Kassam, Fan Cao, Johann Hawe, Henry Cavanagh, Ashley Lim, Grace Png, Jeremy McRae, Abhimanyu Banerjee, Arvind Kumar, Jacob Ulirsch, Yan Zhang, Francois Aguet, Pierrick Wainschtein, Laksshman Sundaram, Adriana Salcedo, Sofia Kyriazopoulou Panagiotopoulou, Delasa Aghamirzaie, Evin Padhi, Ziming Weng, Shan Dong, Damian Smedley, Mark Caulfield, Anne O’Donnell-Luria, Heidi L Rehm, Stephan J Sanders, Anshul Kundaje, Stephen B Montgomery, Mark T Ross, Kyle Kai-How Farh

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  • Nature Communications  ·  May 23, 2025

    Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity.

    Michael Kosicki, Dianne Laboy Cintrón, Pia Keukeleire, Max Schubach, Nicholas F. Page, Ilias Georgakopoulos-Soares, Jennifer A. Akiyama, Ingrid Plajzer-Frick, Catherine S. Novak, Momoe Kato, Riana D. Hunter, Kianna von Maydell, Sarah Barton, Patrick Godfrey, Erik Beckman, Stephan J. Sanders, Martin Kircher, Len A. Pennacchio & Nadav Ahituv

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  • AMIA Annual Proceedings Symposium Archive  ·  May 22, 2025

    Toward Identifying New Risk Aversions and Subsequent Limitations and Biases When Making De-identified Structured Data Sets Openly Available in a Post-LLM world.

    Fangyi Chen, Kenrick Cato, Gamze Gürsoy, Patricia C Dykes, Graham Lowenthal, Sarah Rossetti

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  • Cell Stem Cell  ·  May 22, 2025

    Deconvoluting clonal and cellular architecture in IDH-mutant acute myeloid leukemia.

    Maria Sirenko, Soobeom Lee, Zhengxi Sun, Ronan Chaligne, Sanam Loghavi, Georgios Asimomitis, Charlotte K Brierley, Elsa Bernard, Sheng F Cai, Robert M Myers, Bettina Nadorp, Junya Sango, Morgan Lallo, Max F Levine, Dylan Domenico, Juan E Arango Ossa, Juan S Medina-Martinez, Kamal Menghrajani, Audrey Lasry, Alice S Mims, Helee Desai, Andrea Laganson, Chris Famulare, Minal Patel, Gerard Lozanski, Kelly L Bolton, Aaron D Viny, Mikhail Roshal, Ross L Levine, Eirini P Papapetrou, Eytan M Stein, Dan A Landau, Ann-Kathrin Eisfeld, Iannis Aifantis, Elli Papaemmanuil.

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  • Nature Communications  ·  May 21, 2025

    APOBEC affects tumor evolution and age at onset of lung cancer in smokers.

    Tongwu Zhang, Jian Sang, Phuc H. Hoang, Wei Zhao, Jennifer Rosenbaum, Kofi Ennu Johnson, Leszek J. Klimczak, John McElderry, Alyssa Klein, Christopher Wirth, Erik N. Bergstrom, Marcos Díaz-Gay, Raviteja Vangara, Frank Colon-Matos, Amy Hutchinson, Scott M. Lawrence, Nathan Cole, Bin Zhu, Teresa M. Przytycka, Jianxin Shi, Neil E. Caporaso, Robert Homer, Angela C. Pesatori, Dario Consonni, Marcin Imieliński, Stephen J. Chanock, David C. Wedge, Dmitry A. Gordenin, Ludmil B. Alexandrov, Reuben S. Harris & Maria Teresa Landi

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  • Atherosclerosis  ·  May 20, 2025

    Epigenetic mechanisms underlying variation of IL-6, a well-established inflammation biomarker and risk factor for cardiovascular disease.

    Jessica I Lundin, Ulrike Peters, Yao Hu, Farah Ammous, Emelia J Benjamin, Joshua C Bis, Jennifer A Brody, Mary Cushman, Harriett Fuller, Chris Gignoux, Xiuqing Guo, Jeff Haessler, Chris Haiman, Roby Joehanes, Silva Kasela, Eimear Kenny, Tuuli Lappalainen, Daniel Levy, Chunyu Liu, Yongmei Liu, Ruth J F Loos, Tara Matise, Kari E North, Sungshim L Park, Scott M Ratliff, Alex Reiner, Stephen S Rich, Jerome I Rotter, Jennifer A Smith, Nona Sotoodehnia, Russell Tracy, David Van den Berg, Ting Ye, Wei Zhao, Laura M Raffield, Charles Kooperberg; PAGE Study

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  • Schizophrenia Research  ·  May 19, 2025

    Clinical Characteristics associated with functional seizures in individuals with psychosis.

    Allison M Lake, India A Reddy, Robert Havranek, Lea K Davis, Jonah Fox.

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  • 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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