• 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.

    link out icon
  • 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.

    link out icon
  • 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.

    link out icon
  • 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.

    link out icon
  • 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.

    link out icon
  • 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.

    link out icon
  • 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.

    link out icon
  • 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.

    link out icon
  • 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.

    link out icon
  • 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.

    link out icon
  • Trends in Genetics  ·  August 30, 2025

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

    Gene E Robinson, Dalton Conley.

    link out icon
  • bioRxiv  ·  August 30, 2025  ·  Preprint

    Iterative, multimodal, and scalable single-cell profiling for discovery and characterization of signaling regulators.

    John D. Blair, Alexandra Bradu, Carol Dalgarno, Isabella N. Grabski, Rahul Satija.

    link out icon
  • bioRxiv  ·  August 29, 2025  ·  Preprint

    Local synthesis of Reticulon-1C lessens the outgrowth of injured axons and Spastin activity.

    Alejandro Luarte, Javiera Gallardo, Daniela Corvalan, Ankush Chakraborty, Claudio Gouveia-Roque, Francisca Bertin, Carlos Contreras, Juan Pablo Ramirez, Andre Weber, Waldo Acevedo, Werner Zuschratter, Rodrigo Herrera, Ursula Wyneken, Andrea Paula Lima, Tatiana Adasme, Antonia Figueroa, Carolina Gonzalez, Rodrigo Vergara Sr., Christian Gonzalez-Billault, Jorge Toledo Sr., Ulrich Hengst, Andres Couve.

    link out icon
  • bioRxiv  ·  August 27, 2025  ·  Preprint

    Genetics-to-structure multiscale analysis identifies disrupted calcium homeostasis as a mechanism of psychiatric disease.

    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.

    link out icon
  • Cell Reports  ·  August 25, 2025

    Activation of polo-like kinase 1 correlates with selective motor neuron vulnerability in familial ALS.

    Barbara Szewczyk, Vitaly Zimyanin, Julia Japtok, Aaron Held, Arun Pal, Dajana Großmann, Hannes Glaß, Alexandra V. Jürs, Banaja P. Dash, Maciek Bak, Marcel Naumann, Christiane Hartmann, Olena Kuksenko, René Günther, Tzu-Ting Kao, Katrin Sameith, Andreas Dahl, Jared Sterneckert, Eleonora Aronica, Neil A. Shneider, Andreas Büttner, Alberto Catanese, Hemali Phatnani, Markus Kipp, Brian J. Wainger, Anand Goswami, Andreas Hermann.

    link out icon
  • Genome Medicine  ·  August 20, 2025

    Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.

    Soo-Whee Kim, Hyeji Lee, Da Yea Song, Gang-Hee Lee, Jae Hyun Han, Jee Won Lee, Hee Jung Byun, Ji Hyun Son, Ye Rim Kim, Yoojeong Lee, Eunjoon Kim, Donna M. Werling, So Hyun Kim, Stephan J. Sanders, Hee Jeong Yoo, Joon-Yong An.

    link out icon
  • ArXiv  ·  August 21, 2025  ·  Preprint

    FAIR sharing of Chromatin Tracing datasets using the newly developed 4DN FISH Omics Format.

    Rahi Navelkar, Andrea Cosolo, Bogdan Bintu, Yubao Cheng, Vincent Gardeux, Silvia Gutnik, Taihei Fujimori, Antonina Hafner, Atishay Jay, Bojing Blair Jia, Adam Paul Jussila, Gerard Llimos, Antonios Lioutas, Nuno M C Martins, William J Moore, Yodai Takei, Frances Wong, Kaifu Yang, Huaiying Zhang, Quan Zhu, Magda Bienko, Lacramioara Bintu, Long Cai, Bart Deplancke, Marcelo Nollmann, Susan E Mango, Bing Ren, Peter J Park, Ahilya N Sawh, Andrew Schroeder, Jason R Swedlow, Golnaz Vahedi, Chao-Ting Wu, Sarah Aufmkolk, Alistair N Boettiger, Irene Farabella, Caterina Strambio-De-Castillia, Siyuan Wang.

    link out icon
  • Critical Reviews in Oncology/Hematology  ·  August 20, 2025

    Targeting cancer metabolism: Therapeutic potential of the fatty acid synthase (FASN) inhibitors.

    Pier Vitale Nuzzo, Silvia Rodrigues, Caroline Fidalgo Ribeiro, Isadora Ferrari Teixeira, Giuseppe Nicolo’ Fanelli, Sara Bleve, Francesco Ravera, Hubert Pakula, Filippo Pederzoli, David M Nanus, Massimo Loda.

    link out icon
  • Clinical Cancer Research  ·  August 20, 2025

    Evolution and co-occurrence of PI3K pathway gene mutations in endometrial carcinoma molecular subtypes at the single-cell level.

    Arnaud Da Cruz Paula, Yingjie Zhu, David N Brown, Shirin Issa Bhaloo, Fresia Pareja, Timothy J Hoang, Hunter Green, Thais Basili, Higinio Dopeso, Pier Selenica, Edaise M da Silva, Nadeem Riaz, Sarat Chandarlapaty, Nadeem R Abu-Rustum, Jorge S Reis-Filho, Britta Weigelt.

    link out icon
  • Research Square  ·  August 19, 2025  ·  Preprint

    Persistent Tic Disorders Are Associated With 17q12 Duplications.

    Matthew Halvorsen, Sheng Wang, Tyne Miller-Fleming, Dongmei Yu, Apostolia Topaloudi, Elles de Schipper, Julia Bäckman, David Mataix-Cols, Christian Rück, Behrang Mahjani, Joseph Buxbaum, Dorothy Grice, Larisa Cavallari, Dominick Angiolillo, Francesco Franchi, Lea Davis, Lide Han, Douglas Ruderfer, Andrea Dietrich, Pieter Hoekstra, Manuel Mattheisen, Luz Porras, Paola Giusti-Rodríguez, Carol Mathews, Peristera Paschou, Jeremiah Scharf, Jeremy Willsey, James Crowley.

    link out icon
Decorative image color fade left Decorative image color fade right Decorative image color fade