• Genetics in Medicine  ·  July 7, 2026

    Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

    Sally Nijim , Mimi Kim , Melissa Denish , Michael V Gonzalez , Joseph Zinski , Claudine Rieubland , Dominique Braun , Elsebet Ostergaard , Amelle Shillington , Laurence Faivre , Julien Maraval , Aurore Garde , Christophe Philippe , Fréderic Tran-Mau-Them , Amy Crunk ; UCI GREGoR Site; Megan Hawley , Bert Callewaert , Maria Iascone , Anna Cereda , Cecilia Daolio , Tova Hershkovitz , Jean-Marc Good , Katharina Steindl , Tanja Frey , Anita Rauch , Alexandra Afenjar , Cyril Mignot , Jean-Madeleine de Sainte Agathe , Nicolette den Hollander , Yvonne Hilhorst-Hofstee , Saskia Koene , Gijs Santen , Emilia K Bijlsma , Sara Berger , Lakshmi Mehta , Radka Stoeva , Clara Houdayer , Paul Gueguen , Helene Faust , Sabine Specht , Annick Klabunde-Cherwon , Melik Malek Khelifa , Anke Bergmann , Carol Saunders , Magdalena Krygier , Diana Carrasco , Kay Metcalfe , Stephan J Sanders , David Y Zhang , Renae Judy , Wes Nijim , David Exposito-Alonso , Christine X Deng , Jusung Kim , Jozef Gecz , Corrado Romano , Cindy Skinner , Angie Lichty , Ellen Linebaugh , Steven A Skinner , Maria Chahrour , Tianyun Wang , Kun Xia , Hui Guo , Sien Van Daele , Gert Van Goethem , Christina Fagerberg , Jesper Graakjaer , Susanne Anders , Heike Fink , D Isum Ward , Dorothy K Grange , Alanna Strong , Petra Zwijnenburg , Meghan Towne , René G Feichtinger , Jennifer Morrison , Aditi Dagli , Jonathan Levy , Yline Capri , Rebecca C Spillman , Sarah Hart , Vandana Shashi , Boris Keren , Tjitske Kleefstra , Rolph Pfundt , Christian Gilissen , Evan E Eichler , Melanie Brugger , Michael Zech , Wendy K Chung , Maria Fasolino , Holly C Dow , Daniel J Rader , Edward S Brodkin , Maja Bucan , Eric D Marsh , Caroline Dias , David C Fajgenbaum

    link out icon
  • Nature  ·  July 1, 2026

    Genome-wide association studies of infant and toddler temperament in European and multi-ancestry populations.

    Anja Hollowell, Anna Gui, Emilie Wigdor, Morgan J. Morgan, Laurie J. Hannigan, Elizabeth C. Corfield, René Pool, Susanne Bruins, Helga Ask, Christel M. Middeldorp, Beate St Pourcain, Meike Bartels, Dorret I. Boomsma, Catharina A. Hartman, Aoi Noda, Ippei Takahashi, Mami Ishikuro, Taku Obara, Shinichi Kuriyama, Mary S. Mufford, Marilyn T. Lake, Dan J. Stein, Heather J. Zar, Nadia Hoffman, Elise B. Robinson, Anders D. Børglum, Xinhe Zhang, Varun Warrier, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Tomoki Arichi, Mark H. Johnson, Frank Dudbridge, Stephan J. Sanders, Alexandra Havdahl & Angelica Ronald

    link out icon
  • Nature  ·  July 1, 2026

    Single-cell DNA methylation analysis uncovers epigenetic pathways in the transformation of MDS to AML.

    Alberto Bueno-Costa, Ignacio Campillo-Marcos, Marta Casado-Peláez, Karim Yassine, Aleix Noguera-Castells, Lurdes Zamora, Blanca Xicoy, Francesc Solé, Caterina Mata, Jane Park, Saravanan Ganesan, Matteo Giovanni Della Porta, Gerardo Ferrer, Dan A. Landau & Manel Esteller

    link out icon
  • bioRxiv  ·  June 29, 2026  ·  Preprint

    Serval: A modular framework for decoding imaging based spatial transcriptomics data.

    Jenkin Tsui, Naila Adam, Woongcheol Choi, Luna Y Liu, Cristina Flores, Shadi Ansari, Esther Kong, Yukta Thapliyal, Hakwoo Lee, Shahid Haider, Issac Von Riedemann, Ciara O’Flanagan, IMAXT Cancer Grand Challenges Consortium, Samuel Aparicio, Andrew Roth

    link out icon
  • medRxiv  ·  June 15, 2026  ·  Preprint

    An empirical Bayes framework for burden and dispersion association tests helps prioritize rare variants associated with Alzheimer’s disease.

    Anjali Das, Chirag Lakhani, Vera M Mazeeva, Towfique Raj, David A Knowles.

    link out icon
  • medRxiv  ·  June 24, 2026  ·  Preprint

    Clinical care site data integration reveals heterogeneity in EHR phenotyping and healthcare utilization patterns.

    John P. Shelley, Allison M. Lake, Julia M. Sealock, Thomas E. Ueland, Josh F. Peterson, Lea K. Davis, Jonathan D. Mosley

    link out icon
  • bioRxiv  ·  June 15, 2026  ·  Preprint

    Accurate detection of tumor clonality and ongoing expansion mode from genomic data.

    Yanjie Chen, Roman Jaksik, Peter Terranova, Sara El Baghdadi, Andrew Koval, Monika K. Kurpas, Simon Tavare, Marek Kimmel, Khanh N Dinh.

    link out icon
  • Nature Genetics  ·  June 22, 2026

    Longitudinal changes in DNA methylation in IDH-mutant glioma fuel disease progression through altered cell state differentiation.

    Masashi Nomura, Ramya Raviram, Joshua S. Schiffman, Lillian Bussema, Vivian Lu, Noelle Wheeler, John J. Y. Lee, Yilin Fan, Mian Hua Zheng, Florian Ruiz, Husain Danish, Sorcha Kellett, Labeeba Nusrat, Ronan Chaligne, Jason T. Huse, W. K. Alfred Yung, Shota Tanaka, Nobuhito Saito, Sunit Das, Catherine Potenski, Dan A. Landau, Mario L. Suvà

    link out icon
  • bioRxiv  ·  June 17, 2026  ·  Preprint

    Correcting spatial transcriptomics data affected by a prevalent transcript leakage problem across platforms, species, and tissues.

    Christina Huan Shi, Yibo Zhai, Savio Ho-Chit Chow, Liangbang Li, Chase M Carver, Marcos Garcia Teneche, Jesus Flores, Colin Kern, Peter D Adams, Bing Ren, Marissa J Schafer, Quan Zhu, Yingying Wei, Kevin Y. Yip

    link out icon
  • Genetic Medicine  ·  June 12, 2026

    Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

    Saurav Guha, Indhu-Shree Rajan-Babu, Akanchha Kesari, Shreshtha Garg, Nancy C Rose, Bryce A Seifert, Honey V Reddi; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net.

    link out icon
  • Nature  ·  April 28, 2026

    A Foundation Model for Capturing Complexity of Menstrual Health Data.

    Robin Linzmayer, Chao Pang, Iñigo Urteaga, Gamze Gürsoy, Amanda A Shea, Virginia J Vitzthum, Noémie Elhadad

    link out icon
  • Blood Cancer Discovery  ·  June 12, 2026

    Genomic features do not account for differences in multiple myeloma risk by ancestry.

    Kylee H Maclachlan, Marios Papadimitriou, Patrick Blaney, Linda B Baughn, Tala Shekarkhand, Alexandra M Poos, Bachisio Ziccheddu, Hongwei Tang, Huihuang Yan, Benjamin Diamond, Yanming Zhang, Robert Cimera, Ahmet Dogan, Dylan Gagler, Eileen Boyle, Malin Hultcrantz, Sham Mailankody, Hani Hassoun, Urvi A Shah, Carlyn Tan, Elizabeth E Brown, Lara Winterkorn, Timothy Chu, Zoe Steinsnyder, Zalman Vaksman, Faith E Davies, Neha Korde, Ola Landgren, Marc S Raab, Alexander M Lesokhin, Nicolas Robine, Niels Weinhold, Saad Z Usmani, Francesco Maura, Gareth J Morgan

    link out icon
  • Cell  ·  June 11, 2026

    Charting human cellular senescence in aging and disease.

    Vidyani Suryadevara, Negin Farzad, Mingyu Yang, Ke Xu, Alexander Tsankov, Ryan C. Thompson, Nick Sloan, Hemali Phatnani, Bradley Olinger, Jason A. Mares, Anina N. Lund, Dongmei Li, Myriam Gorospe, Li Ding, Noam Beckmann, Nathan Basisty, Carlos Anerillas, the NIH SenNet consortium, Paul Robbins, Rong Fan

    link out icon
  • JCI Insight  ·  June 2, 2026

    Reduced CCL/Be-specific CD4+ T cells in CCL3-deficient or peptide-MHC II CAR-T cell-treated mice.

    Michael T Falta, Masoom Raza, Caley J Nevienski, Tonya M Brunetti, Rui Fu, Rebecca M Tucker, Joseph M Gaballa, Faiz Minhajuddin, Kibrom M Alula, Alberto Dinarello, Douglas G Mack, Allison K Martin, Joseph C Onyiah, Michael Yarnell, Prashanth Francis, Terry J Fry, Lisa A Maier, Andrew P Fontenot, Charles A Dinarello, Shaikh M Atif.

    link out icon
  • bioRxiv  ·  June 2, 2026  ·  Preprint

    The molecular asynchrony of single cells.

    Boshi Fu, Robert Tan, Zhenkun Cao, Xiuzhen Bai, Dongsheng Bai, Jinghui Song, Chenxu Zhu.

    link out icon
  • Fetal Diagnosis and Therapy  ·  June 8, 2026

    Prenatal Diagnosis of Tubulinopathy: Case Report of Neurosonographic Features and a Novel TUBA1A Variant.

    Eran Bornstein, Vaidehi Jobanputra, Sarah Reiss, Amanda Thomas-Wilson, Caitlin Baptiste, Brynn Levy, Gustavo Malinger

    link out icon
  • Cell  ·  June 4, 2026

    Single-cell mapping of regulatory DNA-protein interactions.

    Wei-Yu Chi, Sang-Ho Yoon, Levan Mekerishvili, Saravanan Ganesan, Catherine Potenski, Franco Izzo, Dan Landau, Ivan Raimondi

    link out icon
  • bioRxiv  ·  June 3, 2026  ·  Preprint

    Genetic and structural evidence links calcium dysregulation and ATP2B2 to neuropsychiatric illness.

    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
  • bioRxiv  ·  May 31, 2026  ·  Preprint

    LRP2: A proteogenomics pipeline for long-read informed protein isoform analysis and discovery.

    Megan D Schertzer, Julia T Lewandowski, Emily F Watts, Will Rosenow, Madison M Mehlferber, Erin D Jeffery, Scott I Adamson, Jocelyne Bruand, Elizabeth Tseng, Yaseswini Neelamraju, Francine E Garrett-Bakelman, Egor Dolzhenko, David A Knowles, Gloria Sheynkman

    link out icon
  • bioRxiv  ·  May 29, 2026  ·  Preprint

    Cell autonomous inflammation in VEXAS is mediated by cGAS-STING.

    Samuel J. Magaziner, Jason C Collins, Brecca Miller, Patrick Zheng, Amy K Wang, Jerome Hadjadj, Juan Carlos Balandran, Maria Sirenko, Maya English, James A.C. Bertlin, Rebecca Murray, Peter H Whitney, Tania J Gonzalez Robles, Deborah Rivera, Yan Wang, Duy T Tran, Zulfeqhar Syed, Valentina Baena, Timothee Lionnet, Kelly J Ruggles, Iannis Aifantis, Dan A. Landau, Achim Werner, David Beck

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