Publication > Page 2
  • Nature Genetics  ·  April 23, 2026

    Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.

    Loes M. E. Moolhuijsen, Jia Zhu, Benjamin H. Mullin, Natàlia Pujol-Gualdo, Ky’Era V. Actkins, Jasmine A. Mack, Hridya Rao, Bhavi Trivedi, Katherine A. Kentistou, Yajie Zhao, David Westergaard, Jaakko S. Tyrmi, Gudmar Thorleifsson, Yanfei Zhang, Laura Wittemans, Amber DeVries, Kelly Brewer, Ryan Sisk, Rebecca Danning, Michael H. Preuss, Michelle R. Jones, Katherine S. Ruth, Marianne Andersen, Ricardo Azziz, Karina Banasik, Michael Boehnke, Linda Broer, Søren Brunak, Yee-Ming Chan, Daniel I. Chasman, Mark Daly, David A. Ehrmann, Bart C. Fauser, Lars G. Fritsche, M. Geoffrey Hayes, Chunyan He, Hongyan Huang, Irina Kowalska, Peter Kraft, Richard S. Legro, Nan Lin, Ruth J. Loos, Yvonne V. Louwers, Reedik Magi, Mark I. McCarthy, Laure Morin-Papunen, Jean V. Morrison, Cynthia Morton, Girish N. Nadkarni, Benjamin M. Neale, Henriette Svarre Nielsen, Mette Nyegaard, Sisse R. Ostrowski, Ole B. V. Pedersen, Erik Sørensen, Christina Mikkelsen, Christian Erikstrup, Kathrine A. Kaspersen, Mie T. Bruun, Bitten Aagaard, Henrik Ullum, Barbara Obermayer-Pietsch, Aarno Palotie, Mary P. Reeve, Andres Salumets, Richa Saxena, Timothy D. Spector, Bronwyn G. A. Stuckey, Unnur Thorsteinsdottir, André G. Uitterlinden, Margrit Urbanek, Sebastian Zöllner, Genes and Health Research Team, DBDS Genomic Consortium, 23andMe Research Team, David A. van Heel, Joel N. Hirschhorn, Kari Stefansson, John R. B. Perry, Unnur Styrkarsdottir, Scott G. Wilson, Terhi Piltonen, Triin Laisk, Marjo-Riitta Jarvelin, Kharis Burns, Anne E. Justice, Hannele Laivuori, Ken K. Ong, Mark O. Goodarzi, Lea K. Davis, Andrea Dunaif, Cecilia M. Lindgren, Joop S. E. Laven, Stephen Franks, Jenny A. Visser, Corrine K. Welt, Tugce Karaderi & Felix R. Day

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  • Cell  ·  April 21, 2026

    Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative states.

    August Yue Huang, Zinan Zhou, Maya Talukdar, Liz Enyenihi, Michael B Miller, Brian Chhouk, Ila Rosen, Mengyue Zheng, Minye Zhou, Averill Yang, Edward Stronge, Madel Durens, Minh Nguyen, Jaejoon Choi, Boxun Zhao, Sattar Khoshkhoo, Junho Kim, Rebecca Andersen, Zheming An, Yuchen Cheng, Javier Ganz, Levan Mekerishvili, Kyle J Travaglini, Mariano I Gabitto, Rebecca D Hodge, Eitan S Kaplan, Julia A Belk, Dan Landau, Ed S Lein, Philip L De Jager, David A Bennett, Samuele G Marro, Eirini P Papapetrou, Eunjung Alice Lee, Christopher A Walsh

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  • Nature Methods  ·  April 17, 2026

    Orthrus: toward evolutionary and functional RNA foundation models.

    Philip Fradkin, Ruian Ian Shi, Taykhoom Dalal, Keren Isaev, Brendan J Frey, Leo J Lee, Quaid Morris, Bo Wang.

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  • HemaSphere  ·  April 16, 2026

    Whole-genome sequencing of cell-free DNA for assessment of minimal residual disease in high-risk smoldering multiple myeloma.

    Chrissy Baker, Elizabeth Hill, Dickran Kazandjian, Marios Papadimitriou, Michael Durante, Abhishek Pandey, Bachisio Ziccheddu, Tomas Jelinek, David Coffey, Brian Walker, Ryan Young, Kylee Maclachlan, Neha Korde, Nickoli Parkinson, Zoe R. Goldstein, Alexi Runnels, William F. Hooper, Dan Landau, Nicolas Robine, Francesco Maura, Ola Landgren, Benjamin Diamond

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  • Biol Psychiatry  ·  April 15, 2026

    Can psychiatric genetics advance without incorporating a lifecourse perspective?

    Jessica K Dennis, Hayley H A Thorpe, Karmel W Choi, Natasia S Courchesne-Krak, Alex P Miller, Emma C Johnson, Carolina Makowski, Chi-Hua Chen, Jibran Y Khokhar, Alysa E Doyle, Michael J Gandal, Danielle M Dick, Erin C Dunn, Lea K Davis, Arpana Agrawal, Sandra Sanchez-Roige.

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  • Translational Psychiatry  ·  April 13, 2026

    R-loop landscapes in the developing human brain are linked to neural differentiation and cell-type specific transcription.

    Elizabeth A. LaMarca, Atsushi Saito, Amara Plaza-Jennings, Allyse Hellmich, Michael B. Fernando, Behnam Javidfar, Sergio Espeso-Gil, Molly Estill, Will Liao, Kayla Townsley, Anna Florio, James E. Ethridge, Catherine Do, Benjamin Tycko, Li Shen, Atsushi Kamiya, Nadejda M. Tsankova, Kristen J. Brennand, Schahram Akbarian

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  • Journal of the Endocrine Society  ·  April 10, 2026

    Genome sequencing identifies monogenic causes in adults with metabolic diseases.

    Volkan Okur , Amanda Marcus , John N Falcone , Maurice A Hurd , Sarah L Stewart , Katerine Claudio , Jyothi Manohar , Fana Dealla , Sonal Kumar , Michele Yeung , Gregory Dakin , Omar Bellorin-Marin , Cheguevara Afaneh , Lisa C Hudgins , Esther Wei , Laura Gingras , Alexandra King , Judy Tung , Atteeq U Rehman , Amanda Thomas-Wilson , Saurav Guha , Avinash Abhyankar , Ashley L Wilson , Shahid Yar Khan , Sowmya Thirumalai Srinivasa , Shruti Phadke , Priya Krithivasan , Caroline Nava , Shuibing Chen , Ryan Smith , Theresa Y MacDonald , Megan J Ritter , Laura C Alonso , Olivier Elemento , Miriam S Udler , Jessica M Peña , Vaidehi Jobanputra , Marcus D Goncalves

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  • 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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