• Molecular Therapy  ·  December 11, 2025

    Targeted BDNF upregulation via upstream open reading frame disruption.

    Ning Feng, Thomas Goedert, Nenad Svrzikapa, Dongnan Yan, Hans J Friedrichsen, Britt Hanson, Alicia Ljungdahl, Ruxandra Dafinca, Kevin Talbot, Stephan J Sanders, Dhanu Gupta, Mathew J A Wood, Thomas C Roberts.

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  • bioRxiv  ·  December 10, 2025  ·  Preprint

    Reconstructing developmental and disease progression with sample-level embeddings.

    Longda Jiang, Zhixin Cyrillus Tan, Isabella N. Grabski, Yuhan Hao, Nathan Nakatsuka, Sourav Sarkar, Anagha Shenoy, Rahul Satija.

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  • bioRxiv  ·  December 12, 2025  ·  Preprint

    Engineered AAV Capsids with Enhanced Extracellular Vesicle Loading via Rational Design and Directed Evolution.

    oulia Vorobieva, Marina Luchner, Hans friedrichsen, Ruhani Makkar, Simon Chester, Emily Haughton, Mariana Conceicao, Harrison Steel, Stephan J Sanders, Matthew Wood, Dhanu Gupta.

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  • Molecular Oncology  ·  December 15, 2025

    Developing evidence-based, cost-effective P4 cancer medicine for driving innovation in prevention, therapeutics, patient care and reducing healthcare inequalities.

    Ulrik Ringborg, Joachim von Braun, Julio Celis, Anton Berns, Michael Baumann, Tit Albreht, Nancy Abou-Zeid, Vanderlei Bagnato, Christian Brandts, Chien-Jen Chen, Massimiliano di Pietro, Manjit Dosanjh, Thomas Dubois, Alexander Eggermont, Angelika Eggert, Ingemar Ernberg, Sara Faithfull, Johannes Förner, Stefan Fröhling, Manuel Heitor, Leroy Hood, Wei Jiang, Bengt Jönsson, Ravi Kannan, Maria Leptin, Su Li, Peter Lindgren, Douglas Lowy, Jun Ma, Alex Markham, Péter Nagy, Simon Oberst, M. Iqbal Parker, Danielle Rodin, Kevin Ryan, Joachim Schüz, Richard Sullivan, Josep Tabernero, Peter Turkson, Oliver Várhelyi, Harold Varmus, Chijie Wang, Elisabete Weiderpass, Nils Wilking

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  • Clinical and Translational Medicine  ·  December 15, 2025

    The ‘vulnerability code’: Is cell identity the architect of its own decay?

    Dongsheng Bai, Zhenkun Cao, Chenxu Zhu

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  • Science  ·  December 11, 2025

    Chromosome shattering in cancer.

    Stanley Clarke, Marcin Imieliński

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  • BMC Medical Genomics  ·  December 9, 2025

    Hair follicle gene expression profiling in the SubPopulations and InteRmediate Outcome Measures in COPD Study (SPIROMICS).

    Kristina L. Buschur, Molly Martorella, Renee Garcia-Flores, Benjamin M. Smith, Marcello Ziosi, Igor Barjaktarevic, Eugene R. Bleecker, Stephanie A. Christenson, Alejandro P. Comellas, Gerard J. Criner, Mark T. Dransfield, Nadia N. Hansel, Robert J. Kaner, Jerry A. Krishnan, Deborah A. Meyers, Elizabeth C. Oelsner, Victor E. Ortega, Robert Paine III, Prescott G. Woodruff, R. Graham Barr & Tuuli Lappalainen

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  • bioRxiv  ·  December 9, 2025  ·  Preprint

    Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease.

    Eloise S Beer Wells, Laura De Conti, Hyung Chul Kim, Narjes Rohani, V Kartik S Chundru, Laura M Watts, Ruebena Dawes, Yuyang Chen, Alexandra C Martin-Geary, Michael J Griffiths, Sam Scott, Rosemary Bamford, Jonathan Mill, Caroline Wright, Marco Baralle, Stephan J Sanders, Nicola Whiffin

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  • Nature  ·  December 8, 2025

    CRISPR activation for SCN2A-related neurodevelopmental disorders.

    Serena Tamura, Andrew D. Nelson, Perry W. E. Spratt, Elizabeth C. Hamada, Xujia Zhou, Henry Kyoung, Zizheng Li, Coline Arnould, Vladyslav Barskyi, Beniamin Krupkin, Kiana Young, Jingjing Zhao, Stephanie S. Holden, Atehsa Sahagun, Caroline M. Keeshen, Congyi Lu, Roy Ben-Shalom, Sunrae E. Taloma, Selin Schamiloglu, Ying C. Li, Lia Min, Paul M. Jenkins, Jen Q. Pan, Jeanne T. Paz, Stephan J. Sanders, Navneet Matharu, Nadav Ahituv & Kevin J. Bender.

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  • bioRxiv  ·  December 8, 2025  ·  Preprint

    RamanOmics Decodes Spatial Vibrational-Molecular Architecture and Rewiring in Aging and Repair

    Ke Zhang, Xingjian Chen, Francesco Monticolo, Salvatore Sorrentino, Haochun Huang, Claire Callahan, Yueqing Qiao, Judy Zhou, Sonia Brodowska, Styliani Sapantzi, Jianhuan Qi, Yinghan Wu, Thai Nam Son Dang, Francesca Viggiani, Chia-Kang Ho, Yanxin Xu, Koseki J. Kobayashi-Kirschvink, Thang Mung, Hemali Phatnani, Zhixun Dou, Jeon Woong Kang, Peter T. C. So, Jian Shu

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  • bioRxiv  ·  December 2, 2025  ·  Preprint

    Multiscale Spatial Transcriptomic Atlas of Human Basal Ganglia Cell-Type and Cellular Community Organization.

    Bereket Tesfay Berackey, Zhiqun Tan, Ginny Wu, Sujan C Das, Ren Li, Benjamin Esser, Qiao Ye, Mahsa Nafisi, Samuel S Park, Pedro Adolfo Sequeira Mendieta, Jillian Berry, Firoza Mamdani, Quan Zhu, Todd C Holmes, Daofeng Li, Ting Wang, M. Margarita Behrens, Bing Ren, Joseph R Ecker, Bogdan Bintu, Xiangmin Xu.

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  • medRxiv  ·  December 3, 2025  ·  Preprint

    Machine Learning-Based Prediction of Cell-type Resolved Brain eQTLs Enhances Discovery of Variants Explainin.g Alzheimer’s Disease Heritability

    Chirag M Lakhani, Giacomo Cavalca, Anjing Liu, Rohan Nidumbur, Ru Feng, Towfique Raj, Philip De Jager, The Alzheimer’s Disease Functional Genomics Consortium, Gao Wang, David A. Knowles.

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  • Cancer Discovery  ·  December 6, 2025

    Ontogeny Dictates Oncogenic Potential, Lineage Hierarchy, and Therapy Response in Pediatric Leukemia.

    Ke Wang, Shayan Saniei, Nikita Poddar, Isabella G Martinez, Clifford Chao, Subrina Autar, Persephone Fiore, Saul Carcamo, Meghana Sreenath, Jack H Peplinski, Rhonda E Ries, Anna Huo-Chang Mei, Noshin Azra Rahman, Levan Mekerishvili, Miguel Quijada-Álamo, Grace Freed, Mimi Zhang, Katherine Lachman, Zayna Diaz, Manuel M Gonzalez, Jing Zhang, Giang Pham, Dan Filipescu, Mirela Berisa, Tommaso Balestra, Noelle Wheeler, Julie A Reisz, Angelo D’Alessandro, Daniel J Puleston, Emily Bernstein, Jerry E Chipuk, Mark Wunderlich, Sarah K Tasian, Bridget K Marcellino, Ian A Glass, Christopher M Sturgeon, Dan A Landau, Zhihong Chen, Eirini P Papapetrou, Franco Izzo, Soheil Meshinchi, Dan Hasson, Elvin Wagenblast.

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  • HGG Adv .  ·  December 4, 2025

    Epigenome-wide association study meta-analysis of BMI in African Americans

    Kendra Ferrier, Mariaelisa Graff, Iain R Konigsberg, Maggie Stanislawski, Heather M Highland, Laura M Raffield, April P Carson, Eric Boerwinkle, Jill M Norris, Chris R Gignoux, Audrey E Hendricks, Sridharan Raghavan, Kari E North, Kristin L Young, Anne E Justice, Matthew A Allison, Mathew J Budoff, Silva Kasela, François Aguet, Joshua J Joseph, Charles Kooperberg, Stephen S Rich, Jerome I Rotter, Ethan M Lange, Leslie A Lange.

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  • Nucleic Acids Research  ·  December 3, 2025

    FAVOR 2.0: A reengineered functional annotation of variants online resource for interpreting genomic variation.

    Hufeng Zhou, Vineet Verma, Xihao Li, Zilin Li, Nicole Shedd, Thomas Cheng Li, Haoyu Yang, Alvin Zhang, Beatrice Borsari, Steven Buyske, Mark Gerstein, Tara Matise, Michael C Zody, Benjamin Neale, Zhiping Weng, Shamil R Sunyaev, Xihong Lin

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  • Stem Cells and Development  ·  December 3, 2025

    The Specification and Functional Maturation of Sub-Cerebral Projection Neurons Derived from Human Induced Pluripotent Stem Cells.

    Zachary Jordan, Anukriti Singh, Seth Kattapong-Graber, Sonal Goswami, Neville E. Sanjana, Emanuela Zuccaro, Feng Zhang, Kevin Eggan, Jenny Hsieh, Brian P. Hermann, Jean M. Hebert, and Asif Mirza Maroof

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  • medRxiv  ·  December 2, 2025  ·  Preprint

    Sex-Specific Genetic Architecture and Comorbidities of Alcohol Use Behaviors.

    Laura Vilar-Ribó, Mariela V Jennings, Aisha Sallah, Zeal Jinwala, Hayley HA Thorpe, Sevim B Bianchi, John Meredith, Kyra Feuer, Lydia Rader, Natasia Courchesne-Krak, Maria Niarchou, Jared Balbona, 23andMe Research Team, Sarah L Elson, Pierre Fontanillas, Emma C Johnson, Lea K Davis, Alexander S Hatoum, Travis T Mallard, Daniel E Gustavson, Hang Zhou, Abraham A Palmer, Jeanne E Savage, Rachel L Kember, Sandra Sanchez-Roige

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  • Nature Communications  ·  December 2, 2025

    Epigenome-wide association study of nuclear DNA methylation in relation to mitochondrial heteroplasmy.

    Meng Lai, Kyeezu Kim, Yinan Zheng, Christina A. Castellani, Scott M. Ratliff, Mengyao Wang, Xue Liu, Jeffrey Haessler, Tianxiao Huan, Kwadwo Bonsu, Charles Newcomb, Kyler McKessy, Lawrence F. Bielak, Wei Zhao, Roby Joehanes, Jiantao Ma, Xiuqing Guo, JoAnn E. Manson, Megan L. Grove, Jan Bressler, Kent D. Taylor, Tuuli Lappalainen, Silva Kasela, Thomas W. Blackwell, Nicole J. Lake, Jessica D. Faul, Kendra R. Ferrier, Stephen C. Ekker, Lifang Hou, Charles Kooperberg, Alexander P. Reiner, Kai Zhang, Patricia A. Peyser, Myriam Fornage, Eric Boerwinkle, Laura M. Raffield, April P. Carson, Stephen S. Rich, Yongmei Liu, Daniel Levy, Jerome I. Rotter, Jennifer A. Smith, Dan E. Arking, Chunyu Liu & NHLBI Trans-Omics for Precision Medicine (TOPMed) mtDNA Working Group

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  • Research Square  ·  December 1, 2025  ·  Preprint

    Distributional genetic effects reveal context-dependent molecular regulation in human brain aging and Alzheimer’s disease.

    Anjing Liu, Roulan Jiang, Ruixi Li, Xuewei Cao, Zining Qi, Ru Feng, Hao Sun, Masashi Fujita, Natacha Comandante-Lou, Chirag M Lakhani, Jenny Empawi, David A Knowles, Xiaoling Zhang, Kushal K Dey, Philip De Jager, David Bennett, The Alzheimer’s Disease Functional Genomics Consortium, Tianying Wang, Gao Wang

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  • bioRxiv  ·  December 1, 2025  ·  Preprint

    Robust Integration of Sparse Single-Cell Alternative Splicing and Gene Expression Data with SpliceVI.

    Smriti Vaidyanathan, Keren Isaev, Aaron Zweig, David A Knowles

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  • Molecular Psychiatry  ·  November 28, 2025

    3D genetic architecture of schizophrenia risk across three neuronal subtypes.

    Samuel K. Powell, Will Liao, Sadaf Ghorbani, Raymond Rigat, Callan O’Shea, Sarah Kammourh, Rahat Elahi, Dana Infante, PJ Michael Deans, Derek J. Le, Poonam Agarwal, Wei Qiang Seow, Novin Balafkan, Kevin C. Wang, Schahram Akbarian, Kristen J. Brennand

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