Publication > Page 2
  • Nature Genetics  ·  April 8, 2026

    Biallelic variants in the noncoding 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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  • 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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  • 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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