• medRxiv  ·  April 9, 2026  ·  Preprint

    Genome-Wide Association Analysis of Tic Disorders Reveals 6 Independent Risk Loci and Highlights Tic-Associated Cell Types and Brain Circuitry.

    Dongmei Yu, Nora I. Strom, Zachary F. Gerring, Apostolia Topaloudi, Matthew W. Halvorsen, Sudhanshu Shekhar, Tyne W. Miller-Fleming, Miao Tang, Luz M. Porras, Franjo Ivankovic, Behrang Mahjani, Teemu Palviainen, Elizabeth C Corfield, Christos Androutsos, Alan Apter, Helga Ask, Valentina Baglioni, Juliane Ball, Cathy L. Barr, Csaba Barta, Entela Basha, James R. Batterson, Noa Benaroya-Milshtein, Fortu Benarroch, Dorret I. Boomsma, Anders D. Borglum, Cathy L Budman, Jan K. Buitelaar, Judith Buse, Jonas Bybjerg-Grauholm, Francesco Cardona, Danielle C. Cath, Larisa H. Cavallari, Keun-Ah Cheon, Barbara J. Coffey, Niklas Dahl, Christel Depienne, Andrea Dietrich, Laura Domenech, Petros Drineas, Gudmundur Einarsson, Erik M Elster, Siyan Fan, Dana Feldman, Thomas V. Fernandez, Jakub P Fichna, Natalie J. Forde, Abel Fothi, Carolin Fremer, Emily Gantz, Blanca Garcia-Delgar, Marianthi Georgitsi, Donald L. Gilbert, Jeffrey Glennon, Danea Glover, Marco A. Grados, Erica L. Greenberg, Jakob Grove, Daniel F. Gudbjartsson, Andreas Hartmann, Alexandra Havdahl, Tammy Hedderly, Bastian Hengerer, Luis Diego Herrera-Amighetti, Isobel Heyman, Pieter J. Hoekstra, Hyun Ju Hong, Alden Y. Huang, Chaim Huijser, David Isaacs, Piotr Janik, Joseph Jankovic, Cathrine Jespersgaard, Seulgi Jung, Ahmad Seif Kanaan, Mira Kapisyzi, Christina Kappler-Friedrichs, Jaakko Kaprio, Iordanis Karagiannidis, Najah Khalifa, Young Shin Kim, Robert A. King, Nadine Kirchen, Carolin Sophie Klages, Yun-Joo Koh, Anastasia Koumoula, Samuel Kuperman, James F. Leckman, Bennett L. Leventhal, Holan Liang, Christine Lochner, Maria Loreta Lopez, Marcos Madruga-Garrido, Irene A. Malaty, Osman Malik, William M. McMahon, Sandra Melanie Meier, Marieke D Messchendorp, Dararat Mingbunjerdsuk, Pablo Mir, Astrid Morer, Norbert Muller, Kirsten Muller-Vahl, Alexander Munchau, Laura Munoz-Delgado, Tara Murphy, Peter Nagy, Benjamin M. Neale, Erika L. Nurmi, Kevin Sean O’Connell, Michael S. Okun, Shanmukha S Padmanabhuni, David L. Pauls, Kerstin Plessen, Geert Poelmans, Cesare Porcelli, Danielle Posthuma, Petra J.W. Pouwels, Joanna Puchala, Renata Rizzo, Mary Robertson, Veit Roessner, Alyssa Rosen, Guy Rouleau, Sven Sandin, Paul Sandor, Martin Scheiene, Simon Schmitt, Joshua A. Senior, Harvey S. Singer, Jordan W. Smoller, Sara Sopena, Tamar Steinberg, Natalia Szejko, Urszula Szymanska, Zsanett Tarnok, Olafur Thorarensen, Meitar Timmor, Jay A. Tischfield, Zeynep Tumer, Anne Uhlmann, Odile A. van den Heuvel, Ysbrand D. van der Werf, Marta Correa Vela, Dick J. Veltman, Ana Vigil-Perez, G. Bragi Walters, Belinda Wang, Thomas Werge, Joanna Widomska, Tomasz Wolanczyk, Yulia Worbe, Jinchuan Xing, Jin Yin, Cezary Zekanowski, Nuno R. Zilhao, Samuel H. Zinner, Joseph D. Buxbaum, Dorothy E. Grice, Christina Hultman, Hreinn Stefansson, Ole Andreassen, Aarno Palotie, Gary A. Heiman, Michael J. Gandal, Lea K. Davis, Paola Giusti Rodriguez, Manuel Mattheisen, James J. Crowley, Peristera Paschou, Jeremiah M Scharf, Carol A Mathews

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  • bioRxiv  ·  August 15, 2025  ·  Preprint

    African Pan Genome Contigs Expose Biologically Relevant Sequence Still Hidden from Human Reference Frameworks.

    Rachel Martini, Abdulfatai Tijjani, Kyriaki Founta, Daniel Cha, Alexandria Awai, Sebastian Maurice, Jason White, Christopher Mason, Isidro Cortes-Ciriano, Nicolas Robine, Onyinye Balogun, Nyasha Chambwe, Melissa B. Davis.

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  • Nature Genetics  ·  April 8, 2026

    Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

    Rocio Rius, Alexander JM Blakes, Yuyang Chen, Joachim De Jonghe, Javeria R Alvi, Florence Amblard, Christina Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V Balton, Giulia Barcia, Jonathan A Bernstein, Pierre Blanc, Daniel Buchzik, Daniel G Calame, Benjamin Cogne, Charles Coutton, Chloe A Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M Dipple, Anne Dieux, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Michael Field, Vanessa Geiger, Richard A Gibbs, Ian Glass, Olivier Grunewald, Paul Gueguen, Tobias B Haack, Hamza Hadj Abdallah, Radu Harbuz, Bertrand Isidor, Marie-Line Jacquemont, Mederic Jeanne, G. Christoph Korenke, Urania Kotzaeridou, Richard J Leventer, James R Lupski, Pierre Marijon, Kaitlin E McGinnis, Rodrigo Mendez, Olfa Messaoud, Caroline Nava, Mevyn Nizard, Anne O’Donnell-Luria, Melanie C O’Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Jennifer E Posey, Chloe M Reuter, Veronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, Christel Thauvin, Julien Thevenon, Eloise Uebergang, Catherine Vincent-Delorme, Evangeline Wassmer, Matthew T Wheeler, Elif Yilmaz Gulec, Adeline Vanderver, Arastoo Vossough, Stephan J Sanders, Siddharth Banka, Gregory M Findlay, Daniel G MacArthur, Cas Simons, Nicola Whiffin.

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  • NAR Genomics and Bioinformatics  ·  April 7, 2026

    Lancet2: Improved and accelerated somatic variant calling with joint multi-sample local assembly graphs.

    Rajeeva Lochan Musunuri, Bryan Zhu , Wayne E Clarke , William Hooper , Timothy Chu , Jennifer Shelton , André Corvelo , Dickson Chung , Shreya Sundar , Adam M Novak , Benedict Paten , Michael C Zody , Nicolas Robine , Giuseppe Narzisi

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  • Nature Communications  ·  April 8, 2026

    Intraocular pressure induced blood retinal barrier compromise in mouse models and human glaucoma.

    Chi Zhang, Haeyn Lim, Jennifer D. Ballheim, Marina Simón, Rui Fu, Nicholas G. Tolman, Logan J. Horbal, Felicia A. Juarez, Qing Wang, Aakriti Bhandari, Christa Montgomery, Ling Zhu, Jonathan G. Crowston, Nicolas Robine, Michael P. Fautsch, Michael H. Elliott, Simon W. M. John

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  • The American Journal of Human Genetics  ·  April 2, 2026

    Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies.

    Xiaowei Hu, Daniel S Araujo, Chachrit Khunsriraksakul, Lida Wang, Quan Sun, Jia Wen, Lingbo Zhou, Lynette Ekunwe, Leslie A Lange, Ethan M Lange, Stephen B Montgomery, Alexander P Reiner, Francois Aguet, Kristin G Ardlie, Tuuli Lappalainen, Christopher R Gignoux, Esteban G Burchard, Kent D Taylor, Xiuqing Guo, Jerome I Rotter, Stephen S Rich, Elaine Cornell, Peter Durda, Russell P Tracy, Yongmei Liu, W Craig Johnson, George P Papanicolaou, Minoli A Perera, Michael H Cho, Dajiang J Liu, Laura M Raffield, Yun Li; TOPMed Multi-Omics Working Group; Heather E Wheeler, Hae Kyung Im, Ani Manichaikul.

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  • bioRxiv  ·  March 31, 2026  ·  Preprint

    Molecular dynamics of Brodmann Area 22 in development and autism.

    Varun Suresh, Emilie M Wigdor, Yuhan Hao, Rachel Leonard, Joseph Asfouri, Micheal Griffiths, Clements Evans, Guohua Yuan, Narjes Rohani, Jakob Weiss, Chimmi Dema, Tanzila Mukhthar, Frederik Lassen, Nicole Schafer, Shan Dong, Duncan S Palmer, Edward F Chang, Stephan J Sanders, Tomasz J. Nowakowski.

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  • Nat Aging  ·  March 31, 2026

    Single-cell spatial atlas of the aging human breast.

    Pulkit Gupta, Eric Lee, Neus Masqué Soler, Ellen Schrader, Xiao Qian Wang, Shimrit Mayer, Cristina Flores, Sean Beatty, Andrew Roth, Samuel Aparicio, H Raza Ali.

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  • Nature Genetics  ·  March 31, 2026

    Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

    Paul J Hop, Maarten Kooyman, Brendan J Kenna, Ramona A J Zwamborn, Kristel R van Eijk, Yan Wang, Charlotte H van Dijk, Erwin Bekema, Wouter van Rheenen, Paul Beele, Joke J F A van Vugt; Project MinE ALS sequencing Consortium; NYGC ALS Consortium; FALS sequencing Consortium; GTAC Consortium; Ahmad Al Khleifat, Alfredo Iacoangeli, Johnathan Cooper-Knock, Bradley N Smith, Simon Topp, Anneke J van der Kooi, Vera Fominykh, Vivian Drory, Yossef Lerner, Yehuda Shovman, Dominic B Rowe, Kelly L Williams, Russell L McLaughlin, Jessica Hurt, Yunfeng Huang, Chia-Yen Chen, Ellen Tsai, Heiko Runz, Eleonora Aronica, Ewout J N Groen, Michael A van Es, R Jeroen Pasterkamp, Sali M K Farhan, Fleur C Garton, Allan F McRae, Pamela A McCombe, Robert D Henderson, Dongsheng Fan, Lenka Šlachtová, Helle Høyer, Agnes L Nishimura, Ruben J Cauchi, Lev Brylev, Boris Rogelj, Blaž Koritnik, Janez Zidar, Teresa Salas, Jesus S Mora Pardina, Marc Gotkine, Monica Povedano, Philippe Corcia, Patrick Vourc’h, Philippe Couratier, Markus Weber, Matthew C Kiernan, Roger Pamphlett, Ian P Blair, Mamede de Carvalho, Nazli A Başak, Caroline Ingre, Peter M Andersen, Lorne Zinman, Ekaterina Rogaeva, Ian R MacKenzie, Nicolas Dupre, Guy A Rouleau, Bryan J Traynor, Nicola Ticozzi, Adriano Chiò, Vincenzo Silani, Orla Hardiman, Hemali Phatnani, Matthew B Harms, Clifton L Dalgard, Jonathan D Glass, John E Landers, Philip Van Damme, Karen E Morrison, Pamela J Shaw, Chris E Shaw, Ammar Al-Chalabi, Leonard H van den Berg, Kevin P Kenna, Jan H Veldink.

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  • Trends Cancer  ·  March 26, 2026

    Dissecting histological transformation.

    Ethan M Earlie, Eric E Gardner, Harold Varmus, Ashley M Laughney.

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  • Brief Bioinform  ·  March 27, 2026

    Comparison of variant callers using 60 532 multi-ancestry whole genome sequences.

    Hufeng Zhou, Zilin Li, Derek Shyr, Xihao Li, Haoyu Yang, Rounak Dey, Yushi Tang, Robert Maier, Eric Boerwinkle, Steve Buyske, Mark Daly, Adam Felsenfeld, Richard A Gibbs, Namrata Gupta, Ira M Hall, Tara Matise, Ginger A Metcalf, Albert Smith, Catherine Reeves, Heidi J Sofia, Nathan O Stitziel, Michael C Zody; NHGRI Genome Sequencing Program (GSP) Consortium; Benjamin Neale, Xihong Lin.

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  • medRxiv  ·  March 23, 2026  ·  Preprint

    A scalable and equitable framework for target and patient prioritisation in rare disease antisense therapeutics.

    Ella F. Whittle, Kylie-Ann Montgomery, Carme Camps, Nour Elkhateeb, Catherine Ryan, Sara Aguti, Thales A. C. de Guimarães, Usha Kini, Helen Stewart, Andrew G. L. Douglas, Louise Wilson, Harry G. Leitch, David S. Lynch, Robert Robinson, Michel Michaelides, Timothy W. Yu, Paul Gissen, Marlen C. Lauffer, Nick Lench, Dan O’Connor, Ana Lisa Tavares, Stephan J. Sanders, Manju A. Kurian, Hannah Titheradge, Emma Clement, Jacqueline van der Spuy, Jenny C. Taylor, Carlo Rinaldi, Francesco Muntoni, Haiyan Zhou, Alice E. Davidson, Mina Ryten, UPNAT consortium.

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  • bioRxiv  ·  March 27, 2026  ·  Preprint

    Systematic identification of seed-driven off-target effects in Perturb-seq experiments.

    Austin Hartman, John D Blair, Thao P Nguyen, Kyle Dyson, Alexandra Bradu, Oliver Takacsi-Nagy, Katherine Santostefano, Theresa Boade, Matthew Bolanos, Ronghui Zhu, Emma Dann, Alexander Marson, Aaron Gitler, Rahul Satija, Ansuman T Satpathy, Theodore L Roth.

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  • bioRxiv  ·  March 26, 2026  ·  Preprint

    Mutant p53 Directs PARP to Regulate Replication Stress and Drive Breast Cancer Metastasis.

    Gu Xiao, George K. Annor, Katherine W. Harmon, Valery Chavez, Fayola Levine, Samuel Ahuno, Samantha C. St. Jean, Florencia P. Madorsky Rowdo, Pamella Leybengrub, Marie Gaglio, Viola Ellison, Divya Venkatesh, Siyu Sun, Taha Merghoub, Benjamin Greenbaum, Olivier Elemento, Melissa B. Davis, Olorunseun Ogunwobi, Jill Bargonetti.

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  • medRxiv  ·  March 28, 2026  ·  Preprint

    Integrative Genomic, Transcriptomic, and Microbiome Profiles of Colon Cancer by Ancestry Provide Insights into Molecular Distinctions.

    Melissa Kramer, Pascal Belleau, Sofia C Tortora, Astrid Deschenes, Kyriaki Founta, Carino Gurjao, Brian Yueh, Sara Goodwin, Devin Gee, Santhilal Subhash, Mali Barbi, Charlie Chung, Kadir Ozler, Onur Eskiocak, Benjamin Izar, Heather Geiger, Timothy R Chu, Zoe Goldstein, Lara Winterkorn, Andrew Araneo, Richard L Whelan, David Rivadeneira, Sharon Fox, Arjun Kandel, Fatih Ozay, Desiree Joy Anne Talabong, Olalekan Lanipekun, Henry Talus, Jianying Zeng, Arvind Rishi, Nyasha Chambwe, Nicolas Robine, Jeff Boyd, Alexander Krasnitz, Semir Beyaz, W Richard McCombie, Laura A Martello

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  • Nature Communications  ·  March 25, 2026

    CRISPR tiling deletion screens reveal functional enhancers and allelic compensation effects (ACE) on SIN3A transcription.

    Xingjie Ren, Lina Zheng, Yuxi Liu, Lenka Maliskova, Tsz Wai Tam, Yifan Sun, Hongjiang Liu, Xiekui Cui, Jerry Lee, Maya Asami Takagi, Bin Li, Bing Ren, Wei Wang & Yin Shen

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  • Cell  ·  March 19, 2026

    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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  • Nature Genetics  ·  March 19, 2026

    A meta-analysis of single-nucleus expression quantitative trait loci linking genetic risk to brain disorders.

    Beomjin Jang, Kailash BP, Alex Tokolyi, Winston H. Dredge, Ashvin Ravi, Sang-Hyuk Jung, Tatsuhiko Naito, Beomsu Kim, Min Seo Kim, Minyoung Cho, Mi-So Park, Mikaela Rosen, Joel Blanchard, Jack Humphrey, David A. Knowles, Hong-Hee Won & Towfique Raj

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  • bioRxiv  ·  March 18, 2026  ·  Preprint

    Genome-scale functional mapping of the mammalian whole brain with in vivo Perturb-seq.

    Tuo Shi, Maria Korshunova, Seoyeon Kim, David DeTomaso, Xinhe Zheng, Lavanya Vishvanath, Thokozile Nyasulu, Nhan Huynh, Alexander Sun, Patrick C Thompson, Yifan Zhang, Emilie M Wigdor, Narjes Rohani, Salma Ali, Huixian Qiu, Michael Geralt, Zephyra Zhao, Sara Rabhi, Zizhen Yao, Cindy TJ van Velthoven, Joseph R Nery, Rosa G Castanon, Severin Dicks, Tiffany J Chen, Joseph R Ecker, Hongkui Zeng, Grace XY Zheng, Stephan J Sanders, Laksshman Sundaram, Xin Jin

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  • bioRxiv  ·  March 13, 2026  ·  Preprint

    An explainable boosting machine model for identifying artifacts caused by formalin-fixed paraffin embedding.

    Valentina Grether, Zoe R Goldstein, Jennifer M Shelton, Timothy R Chu, William F Hooper, Heather Geiger, Andre Corvelo, Rachel Martini, Melissa B Davis, Nicolas Robine, Will Liao.

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