• medRxiv  ·  September 30, 2025  ·  Preprint

    Meta-analysis of genetic regulation of RNA editing in the human brain identifies new genes underlying neurological disease.

    Winston H Dredge, Kailash BP, Aline Réal, Benjamin Z Muller, Beomjin Jang, Ting Fu, Hyomin Seo, Hong-Hee Won, Michael S Breen, Xinshu Xiao, David A Knowles, Jack Humphrey, Towfique Raj.

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  • bioRxiv  ·  October 3, 2025  ·  Preprint

    A conserved logic for the development of cortical layering in tetrapods.

    Astrid Deryckere, Saket Choudhary, Connor Lynch, Lian Kirit V. P. Limperis, Pauline Affatato, Jamie Woych, Elias Gumnit, Alonso Ortega Gurrola, Rahul Satija, Christian Mayer, Maria Antonietta Tosches.

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  • Genome Research  ·  October 1, 2025

    Analyzing the large and complex SFARI autism cohort data using the Genotypes and Phenotypes in Families (GPF) platform.

    Liubomir Chorbadjiev, Murat Cokol, Zohar Weinstein, Kevin Shi, Christopher Fleisch, Nikolay Dimitrov, Svetlin Mladenov, Ivo Todorov, Iordan Ivanov, Simon Xu, Steven Ford, Yoon-ha Lee, Boris Yamrom, Steven Marks, Adriana Munoz, Alex Lash, Natalia Volfovsky and Ivan Iossifov.

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  • Nature Communications  ·  October 1, 2025

    Polygenic risk score for type 2 diabetes shows context-dependent effects across populations.

    Boya Guo, Yanwei Cai, Daeeun Kim, Roelof A. J. Smit, Zhe Wang, Kruthika R. Iyer, Austin T. Hilliard, Jeffrey Haessler, Ran Tao, K. Alaine Broadaway, Yujie Wang, Nikita Pozdeyev, Frederik F. Stæger, Chaojie Yang, Brett Vanderwerff, Amit D. Patki, Lauren Stalbow, Meng Lin, Nicholas Rafaels, Jonathan Shortt, Laura Wiley, Maggie Stanislawski, Jack Pattee, Lea Davis, Peter S. Straub, Megan M. Shuey, Nancy J. Cox, Nanette R. Lee, Marit E. Jørgensen, Peter Bjerregaard, Christina Larsen, Torben Hansen, Ida Moltke, James B. Meigs, Daniel O. Stram, Xianyong Yin, Xiang Zhou, Kyong-Mi Chang, Shoa L. Clarke, Rodrigo Guarischi-Sousa, Joanna Lankester, Philip S. Tsao, Steven Buyske, Mariaelisa Graff, Laura M. Raffield, Quan Sun, Lynne R. Wilkens, Christopher S. Carlson, Charles B. Easton, Simin Liu, JoAnn E. Manson, Loïc L. Marchand, Christopher A. Haiman, Karen L. Mohlke, Penny Gordon-Larsen, Anders Albrechtsen, Michael Boehnke, Stephen S. Rich, Ani Manichaikul, Jerome I. Rotter, Noha A. Yousri, Ryan M. Irvin, The biobank at the Colorado Center for Personalized Medicine (CCPM), VA Million Veteran Program (MVP), Chris Gignoux, Kari E. North, Ruth J. F. Loos, Themistocles L. Assimes, Ulrike Peters, Charles Kooperberg, Sridharan Raghavan, Heather M. Highland & Burcu F. Darst.

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  • bioRxiv  ·  September 29, 2025  ·  Preprint

    Brain Region-Specific Epigenomic Reorganization and Altered Cell States in Alzheimer’s Disease.

    Wenliang Wang, Peter Berube, Bing Yang, Rosa Castanon, Anna Bartlett, Kaushik Komandur, Joseph R. Nery, Cesar Barragan, Mia Kenworthy, Cynthia Valadon, Jordan Altshul, Alaina Petrella, Derek Chan, Chumo Chen, Andrea Saldana Acerbo, Jammy Luo, Manya Jain, Eshaan Soma, Huaming Chen, Michelle Liem, Mikayla Marrin, Caz O’Connor, Nathan Zemke, Derek H. Oakley, Bing Ren, Bradley T. Hyman, Joseph R. Ecker.

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  • Nature  ·  September 30, 2025

    Brain-heart-eye axis revealed by multi-organ imaging genetics and proteomics.

    The MULTI Consortium, Aleix Boquet-Pujadas, Filippos Anagnostakis, Michael R. Duggan, Cassandra M. Joynes, Arthur W. Toga, Zhijian Yang, Keenan A. Walker, Christos Davatzikos & Junhao Wen.

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  • Genome Biology  ·  September 27, 2025

    Hybrid BAG-seq: DNA and RNA from the same single nucleus reveals interactions between genomic and transcriptomic landscapes in human tumor samples.

    Siran Li, Joan Alexander, Jude Kendall, Peter Andrews, Elizabeth Rose, Hope Orjuela, Sarah Park, Craig Podszus, Liam Shanley, Nissim Ranade, Patrick Morris, Danielle Stauder, Daniel Bradford, Zachary Laster, Michael Ronemus, Arvind Rishi, Marina Frimer, Rong Ma, David L. Donoho, Gary L. Goldberg, Michael Wigler & Dan Levy.

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  • medRxiv  ·  September 26, 2025  ·  Preprint

    Mapping genetic effects on splicing in ten thousand post-mortem brain samples reveals novel mediators of neurological disease risk.

    Aline Réal, B P Kailash, Winston H Cuddleston, Benjamin Z Muller, Beomjin Jang, Alex Tokolyi, Hong-Hee Won, Jack Humphrey, Towfique Raj, David A Knowles.

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  • Journal of Microbiology & Biology Education  ·  September 25, 2025

    Teaching molecular genetics using Paramecium and RNA interference: research-based learning and project ownership.

    M. S. Valentine, K. Johnson, M. B. Veramendi, C. James, J. Kozak, A. Patwardhan, R. Quartey.

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  • International Journal of Molecular Sciences  ·  September 22, 2025

    Stratifying ALS Patients by Mode of Inheritance Reveals Transcriptomic Signatures Specific to sALS and fALS.

    Alexandria Awai, Erica L. Johnson, Tiandong Leng, John Patrickson, Michael C. Zody, James W. Lillard, Jr. and on behalf of the NYGC ALS Consortium.

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  • medRxiv  ·  September 21, 2025  ·  Preprint

    Uncovering splicing-mediated disease associations in the UK Biobank and All of Us using a TWAS with Bayesian joint fine-mapping.

    Alex Tokolyi, Saikat Banerjee, David A Knowles.

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  • bioRxiv  ·  September 20, 2025  ·  Preprint

    Mapping transcriptional responses to cellular perturbation dictionaries with RNA fingerprinting.

    Isabella N Grabski, Junsuk Lee, John Blair, Carol Dalgarno, Isabella Mascio, Alexandra Bradu, David A Knowles, Rahul Satija.

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  • Nature  ·  September 17, 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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  • Dermatologic Surgery  ·  September 17, 2025

    Survival Outcomes in Cutaneous Angiosarcoma: A Meta Analysis.

    Aneri Bhargav Patel, William Driscoll, Ajay Nair Sharma, Luke Horton, Janellen Smith.

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  • Neuron  ·  September 12, 2025

    A rare genetic variant confers resistance to neurodegeneration across multiple neurological disorders by augmenting selective autophagy.

    Katherine R Croce, Christopher Ng, Serihy Pankiv, Eddy Albarran, Peter Langfelder, Ana Ramos de Jesus, Glenn M Duncan, Nan Wang, Anna Basile, Caitlin McHugh, Nicole A Litt, Alina Li, Sophia Friedman, Etty P Cortes, Michael C Zody, X William Yang, Jun B Ding, Jean Paul G Vonsattel, Anne Simonsen, David E Housman, Nancy S Wexler, Ai Yamamoto.

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  • bioRxiv  ·  September 9, 2025  ·  Preprint

    Human-specific features of the cerebellum and ZP2-regulated synapse development.

    Suel-Kee Kim, Adriana Cherskov, Aastha Sindhwani, Sang-Hun Choi, Hyojin Kim, Ming-Li Li, Menglei Zhang, Xoel Mato-Blanco, Yuting Liu, Nicola Micali, David M Young, Mark Estacion, Yueqi Zhang, Jose Manuel Ruiz-Jimenez, Anandita Nadkarni, Victor Luria, Suvimal Kumar Sindhu, Ipsita Chatterjee, Akemi Shibata, Dan Liang, Hyesun Cho, Saejeong Park, Ana Spajic, Rothem Kovner, Martina Glavan, Rachel J Chen, Ryan D Risgaard, Xinyun Li, Sirisha Pochareddy, Amir Karger, Anita Huttner, Yury M Morozov, Etienne W Daadi, Carlo Colantuoni, Kevin T Gobeske, John J Ely, Patrick R Hof, Marcel M Daadi, Chet C Sherwood, Alvaro Duque, Shaojie Ma, Andre M. M. Sousa, Stephen Waxman, Pasko Rakic, Gabriel Santpere, Stephan J Sanders, Nenad Sestan.

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  • Genome Biology  ·  September 9, 2025

    Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.

    Margaret Sunitha Selvaraj, Xihao Li, Zilin Li, Eric Van Buren, Sara Haidermota, Darina Postupaka, Whitney Hornsby, Joshua C. Bis, Jennifer A. Brody, Brian E. Cade, Ren-Hua Chung, Joanne E. Curran, Scott M. Damrauer, Lisa de las Fuentes, Paul S. de Vries, Ravindranath Duggirala, Barry I. Freedman, MariaElisa Graff, Xiuqing Guo, Bertha A. Hidalgo, Lifang Hou, Ryan Irvin, Renae Judy, Rita R. Kalyani, Tanika N. Kelly, Iain R. Konigsberg, Brian G. Kral, Lydia Coulter Kwee, Daniel Levy, Changwei Li, Ani W. Manichaikul, Lisa Warsinger Martin, May E. Montasser, Alanna C. Morrison, Take Naseri, Kari E. North, Jeffrey R. O’Connell, Nicholette D. Palmer, Patricia A. Peyser, Alex P. Reiner, Svati H. Shah, Roelof A. J. Smit, Jennifer A. Smith, Kent D. Taylor, Hemant Tiwari, Michael Y. Tsai, Satupa‘itea Viali, Zhe Wang, Yuxuan Wang, Wei Zhao, Donna K. Arnett, John Blangero, Eric Boerwinkle, Donald W. Bowden, Jenna C. Carlson, Yii-Der Ida Chen, Patrick T. Ellinor, Myriam Fornage, Jiang He, Nancy Heard-Costa, Robert C. Kaplan, Sharon L. R. Kardia, Charles Kooperberg, William E. Kraus, Leslie A. Lange, Ruth J. F. Loos, Braxton D. Mitchell, Bruce M. Psaty, Daniel J. Rader, Susan Redline, Stephen S. Rich, Lisa R. Yanek, Richard Gibbs, Stacey Gabriel, Karine A. Viaud-Martinez, Susan K. Dutcher, Soren Germer, Ryan Kim, Jerome I. Rotter, Xihong Lin, Gina M. Peloso, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & Pradeep Natarajan.

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  • Annals of Surgical Oncology  ·  September 6, 2025

    Oncologic Anthropology and the African Diaspora: Twenty-Year Anniversary Report, International Center for the Study of Breast Cancer Subtypes (ICSBCS).

    Ishmael Kyei, Vivian J Bea, Kofi K Gyan, Ernest Adjei, Brian Stonaker, Mahteme Bekele, Engida Abebe, Melissa Davis, Andrew Boakye, Richard Boateng, Olivier Elemento, Frances Aitpillah, Hanan Alebachew, Aisha Jibril, Yalei Chen, Evelyn Taiwo, Jessica Bensenhaver, Eleanor Walker, Haythem Ali, Joseph Oppong, Paula Ginter, Hawa Nalwoga, Sam Kalungi, Godwin Ebughe, Emmanuel R Ezeome, Karen Jackson, Ernest Osei Bonsu, Adeyiza Momoh, Rachel Martini, Sandra Demaria, Clayton Yates, Onyinye D Balogun, Christopher Louie, Jyothi Manohar, Yaw Bediako, Gloria Agyekum Boaitey, Linda Ahenkorah Fondjo, Nneka Iloanusi, Ifeoma Okoye, Michael Adinku, Kwasi Ankomah, Charles Dally, Emily Rockefeller, Laura Susick, Ima Obong-Ekanem, Benjamin C Greenspun, Shimelis Abegaz Daba, Theresa Schwartz, Nicolas Robine, Shuibing Chen, Jian Carrot-Zhang, Setor Amazu, Evelyn Jiagge, Osei Kareem Acheamfour, Stevens Patino, Manmeet Malik, Tammy Ju, Beth Siegel, Iman Khalifa Martin, Cassandra Mills, Jocelyn Phillip, Chima Onwuka Kalu, Christine Joseph, Favour Peters, Amanda Stromain, Bankole Olusina, Onyekachi Nwokoro, Nwamaka Lasebikan, Joseph Udosen, Victor Nwagbara, John Carpten, Senait Fisseha, Timothy Johnson, Baffour Awuah, Lisa A Newman.

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  • Brain  ·  September 5, 2025

    Genotype-specific interferon signatures in amyotrophic lateral sclerosis relate to disease severity.

    Olga Carletta, Camilla Perfetto, Olivia M Rifai, Francesca Manganelli, Fergal M Waldron, Tom Maniatis, Jenna M Gregory, Valeria Gerbino.

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  • bioRxiv  ·  September 2, 2025  ·  Preprint

    Multiscale Integration of Genetic, Transcriptomic, and Structural Data Identifies Calcium Homeostasis as a Core Mechanism Underlying Neuropsychiatric Disorders.

    Sherif Gerges, Nikolaj Catois Straarup, Mohamed A El-Brolosy, F. Kyle Satterstrom, Nolan Kamitaki, Jiayi Yuan, Emi Ling, Raozhou Lin, Melissa Goldman, Tarjinder Singh, Jonathan S. Weissman, Sabina Berretta, Jen Qian Pan, Hilary Finucane, Charlott Stock, Poul Nissen, Steven A. McCarroll, Mark J. Daly.

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  • Trends in Genetics  ·  August 30, 2025

    A tale of two sociogenomics: shall the twain ever meet?

    Gene E Robinson, Dalton Conley.

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