Preprint
  • 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

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  • 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

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  • 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

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  • medRxiv  ·  May 20, 2026  ·  Preprint

    Altered neurodevelopmental trajectories of brain structure in Tourette syndrome and Chronic Tic Disorders.

    Yin Jin, Yuxin Guo, Jonathan M. Koller, Sarah C. Grossen, Anne Uhlmann, Natalie J. Forde, Jade-Jocelyne Zouki, Renzo Torrecuso, Karsten Mueller, Juan F. Martin-Rodriguez, Pablo Franco-Rosado, Michel Grothe, Catharina Cramer, Anne Kleine Büning, Heike Eichele, Stefano Palmucci, Adriana Prato, Federica Saia, Silvia Tommasin, Giulia Conte, Katharina A. Schindlbeck, Christos Ganos, Shukti Zimmermann, Tanja Veselinovic, Yulia Worbe, Andreas Hartmann, Apostolia Topaloudi, Mary Kaka, Guangxin Chen, Qingyi Zhong, Yuqi Zhang, Natalia Szejko, Piotr Janik, Nanette M. Debes, Zeynep Tumer, Tomasz Wolańczyk, Gary A. Heiman, Hreinn Stefansson, Helga Ask, Ole Andreassen, Anders D. Børglum, Joseph D. Buxbaum, Elizabeth C. Corfield, Mark Daly, Dorothy E. Grice, David Mataix-Cols, Aarno Palotie, Christian Rück, Matthew W. Halvorsen, Lea K. Davis, James J. Crowley, Manuel Mattheisen, Dongmei Yu, Carol A. Mathews, Jeremiah M. Scharf, The members of the Tourette International TS-EUROTRAIN/TSGeneSEE, TAA Neuroimaging Consortium, Collaborative Genetics consortium, TAAICG, EMTICS, ENIGMA-TS Working Group, Dan J. Stein, Irene Neuner, Richard Musil, Francesco Cardona, Danielle Cath, Dick J. Veltman, Tim J. Silk, Alexander Munchau, Julius Verrel, Valerie C. Brandt, Tamara Hershey, Deanna J. Greene, Bradley L. Schlaggar, Jan Buitelaar, Barbara Franke, Sophia Thomopoulos, Renata Rizzo, Andrea Dietrich, Pieter J. Hoekstra, Pablo Mir, Veit Roessner, Odile A. van den Heuvel, Kirsten Mueller-Vahl, Harald Möller, Neda Jahanshad, Paul M. Thompson, Kevin J. Black, Peristera Paschou

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  • medRxiv  ·  May 13, 2026  ·  Preprint

    A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

    Anthony McGuigan, Alistair T. Pagnamenta, Laura E. Covill, Jacob Samson, Carme Camps, Yuyang Chen, Tanishi Moitra, Kartik Chundru, Emily O’Heir, Kirsten Allan, Gavin Arno, Alexander Broomfield, Martin Delatycki, Siying Lin, Michel Michaelides, Rocio Rius, Tony Roscioli, Cas Simons, Andrew Webster, Susan M. White, Louise Wilson, Stephan J. Sanders, Anne O’Donnell-Luria, Jamie M. Ellingford, Jenny C. Taylor, Nicola Whiffin.

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  • bioRxIv  ·  May 15, 2026  ·  Preprint

    Spatial transcriptomics implicates the thalamus and cortex in autism and schizophrenia.

    David M Young, Ruchira Sharma, Narjes Rohani, Chimmi Dema, Lindsay Liang, Bernie Devlin, Devanand S. Manoli, Stephan J Sanders.

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  • medRxiv  ·  April 29, 2026  ·  Preprint

    The New York Genome Center ALS Consortium resource integrates postmortem tissue transcriptomics and whole genome sequencing to empower biological discovery.

    Jack Humphrey, Ali Oku, Marta Byrska-Bishop, Anna Basile, Uday S. Evani, Andre Corvelo, Alex Tokolyi, Kailash BP, Aline Real, Yebin Kim, Marielle Bond, Wayne E. Clarke, Rui Fu, Heather Geiger, Sei Chang, Tatsuhiko Naito, Beomijin Jang, Rajeeva Musunuri, Winston Dredge, Rashid Al-Abri, Benjamin N. Hoover, Dina Manaa, Jaime McClintock, Faith P. Singh, Maria H. Pedersen, Alexi Runnels, Nadia Propp, Samantha Fennessey, Hong-Hee Won, Michael C. Zody, Giuseppe Narzisi, Nicolas Robine, Tuuli Lappalainen, Delphine Fagegaltier, Gamze Gursoy, David A. Knowles, Towfique Raj, NYGC ALS Consortium, Matthew B. Harms, Hemali Phatnani.

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  • bioRxiv  ·  May 1, 2026  ·  Preprint

    Comprehensive Molecular Characterization of High-Grade Endometrial Cancer in an Ancestrally-Diverse Cohort.

    Marina Frimer, Devin Gee, Zoe R Goldstein, WillIam F Hooper, Kyriaki Founta, Astrid Deschenes, Heather Geiger, Pascal Belleau, Melissa Kramer, Brian Yueh, Tim Chu, Ali Oku, Zalman Vaksman, Valentina Grether, Zoe Steinsnyder, Andrew L Araneo, Charlie Chung, Arisa Kapedani, Aaron Nizam, Onur Eskiocak, Kadir Ozler, Gary L Goldberg, Alexander Krasnitz, W R McCombie, Mali Barbi, Lara Winterkorn, Nicolas Robine, Semir Beyaz, Nyasha Chambwe.

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  • bioRxiv  ·  April 27, 2026  ·  Preprint

    Single-nucleus multiome sequencing identifies candidate regulators of mouse gastric epithelial homeostasis.

    Maithê Rocha Monteiro de Barros, Katharina Bosch, Salima Soualhi, Shirin Issa Bhaloo, Thomas Chu, Tanya Hemrajani, Jin Cho, Kurtay Ozuner, Rui Fu, Heather Geiger, Nicolas Robine, Jade E.B. Carter, Silas Maniatis, Sandra Ryeom, Simon Tavaré, Karol Nowicki-Osuch

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