Preprint > Page 7
  • Research Square  ·  December 1, 2025  ·  Preprint

    Distributional genetic effects reveal context-dependent molecular regulation in human brain aging and Alzheimer’s disease.

    Anjing Liu, Roulan Jiang, Ruixi Li, Xuewei Cao, Zining Qi, Ru Feng, Hao Sun, Masashi Fujita, Natacha Comandante-Lou, Chirag M Lakhani, Jenny Empawi, David A Knowles, Xiaoling Zhang, Kushal K Dey, Philip De Jager, David Bennett, The Alzheimer’s Disease Functional Genomics Consortium, Tianying Wang, Gao Wang

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  • bioRxiv  ·  December 1, 2025  ·  Preprint

    Robust Integration of Sparse Single-Cell Alternative Splicing and Gene Expression Data with SpliceVI.

    Smriti Vaidyanathan, Keren Isaev, Aaron Zweig, David A Knowles

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  • bioRxiv  ·  November 25, 2025  ·  Preprint

    Transcriptome-wide profiling of alternative splicing regulators with CRISPore-seq.

    Simon Müller, Nathanael Andrews, Rachel E. Yan, Akash Sookdeo, Wells H. Burrell, Xiaoguang Dai, Priyesh Rughani, Zharko Daniloski, Sissel Juul, Neville E. Sanjana

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  • medRxiv  ·  November 22, 2025  ·  Preprint

    Biobank-scale Bayesian TWAS reveals splicing-mediated mechanisms of complex disease.

    Alex Tokolyi, Saikat Banerjee, David A Knowles

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  • medRxiv  ·  November 19, 2025  ·  Preprint

    Common and rare variant genetic contributions in African Americans with autism.

    Matilde Cirnigliaro, Jennifer K. Lowe, Alexander O. Flynn-Carroll, Michi E. Kumagai, David S. Gibson, Jack M. Fu, Shan Dong, Kangcheng Hou, Vamsee Pillalamarri, Anna M. Abbacchi, Amanda C. Gulsrud, Janet Miller, Yi Zhang, Erin T. Graham, Elizabeth O. Akinyemi, Marshel F. Adams, Amaris N. Clay, Stephanie A. Arteaga, Hailey Choi, Ryan M. Kochis, Jorge E. Peña-Velasco, Jackson N. Hoekstra, Aaron D. Besterman, Sunil Mehta, Tarik Hadzic, Rujuta B. Wilson, Tashalee R. Brown, Leanna M. Hernandez, Natasha Marrus, Sophie Molholm, Cheryl Klaiman, Rita M. Cantor, Michael E. Talkowski, Stephan J. Sanders, Dan E. Arking, Bogdan Pasaniuc, Ami Klin, John N. Constantino, Genetics of Neurodevelopment in African Americans (GENAA) Consortium, Daniel H. Geschwind

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  • bioRxiv  ·  November 10, 2025  ·  Preprint

    Disruption of Cell-Type-Specific Molecular Programs of Medium Spiny Neurons in Autism.

    Guohua Yuan, Varun Suresh, Emilie Wigdor, Yuhan Hao, Rachel Leonard, Marilyn Steyert, Michael Griffiths, Clements Evans, Narjes Rohani, Jakob Weiss, Frederick H. Lassen, Nicole Schafer, Shan Dong, Duncan S. Palmer, Stephan J. Sanders, Tomasz J. Nowakowski.

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  • bioRxiv  ·  November 5, 2025  ·  Preprint

    Distinct patterns of de novo coding variants contribute to Tourette Syndrome etiology.

    Lingyu Zhan, Dongmei Yu, Franjo Ivankovic, Maria Niarchou, Laura Domenech-Salgado, Cathy L. Barr, Fortu Benarroch, Cathy L. Budman, Danielle C. Cath, Nelson B. Freimer, Helena Garrido, Marco A. Grados, Varda Gross-Tsur, Luis Herrera-Amighetti, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, William M. McMahon, David L. Pauls, Yehuda Pollak, Mary M. Robertson, Roxana Romero, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Paola Giusti-Rodriguez, Lea K. Davis, Carol A. Mathews, Jeremiah M. Scharf, Roel A. Ophoff

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  • bioRxiv  ·  November 5, 2025  ·  Preprint

    Large-scale discovery of neural enhancers for cis-regulation therapies.

    Troy A. McDiarmid, Nicholas F. Page, Florence M. Chardon, Riza M. Daza, George T. Chen, Michael Kosicki, Lucas M. James, Hannah C. Nourie, Dianne Laboy-Cintron, Arthur S. Lee, Paula Vij, Diego Calderon, Jean-Benoit Lalanne, Beth K. Martin, Kyle Fink, Michael E. Talkowski, Alysson R. Muotri, Benjamin D. Philpot, Len A. Pennacchio, Daniel H. Geschwind, Stephan J. Sanders, Nadav Ahituv, Jay Shendure.

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  • medRxiv  ·  November 5, 2025  ·  Preprint

    Genome-wide association studies of binge-eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

    Jet D Termorshuizen, Helena L Davies, Sang-Hyuck Lee, Jessica K Dennis, Christopher Hübel, Jessica S Johnson, Yi Lu, Melissa A Munn-Chernoff, Triinu Peters, Baiyu Qi, Katherine E Schaumberg, Rebecca H Signer, Karanvir Singh, Abigail R ter Kuile, Laura M Thornton, Jiayi Xu, Shuyang Yao, Zeynep Yilmaz, Ruyue Zhang, Johan Zvrskovec, Mohamed Abdulkadir, Ziada Ayorech, Elizabeth C Corfield, Alexandra Havdahl, Kristi Krebs, Taralynn M Mack, Maria Niarchou, Teemu Palviainen, Julia M Sealock, Jessica H Baker, Andrew W Bergen, Andreas Birgegård, Vesna Boraska Perica, Katharina Bühren, Roland Burghardt, Matteo Cassina, Enrico Collantoni, James J Crowley, Unna N Danner, Franziska Degenhardt, Janiece E DeSocio, Christian Dina, Monika Dmitrzak-Węglarz, Laramie E Duncan, Karin M Egberts, Lenka Foretova, Ina Giegling, Fragiskos Gonidakis, Scott D Gordon, Jakob Grove, Sébastien Guillaume, Jerry D Guintivano, Annette M Hartmann, Konstantinos Hatzikotoulas, Stefan Herms, Hartmut Imgart, Susana Jiménez-Murcia, Antonio Julià, Gursharan Kalsi, Deborah Kaminská, Leila J Karhunen, Hannah Kennedy, Kirsty M Kiezebrink, Theresa Kolb, Janne T Larsen, Dong Li, Lisa Lilenfeld, Mario Maj, Morten Mattingsdal, Paolo Meneguzzo, Allison L Miller, Karen S Mitchell, Alessio Maria Monteleone, Catherine M Olsen, Leonid Padyukov, Richard Parker, Michaela Pettie, Dalila Pinto, Anu Raevuori, Samuli Ripatti, Marion E Roberts, Paolo Santonastaso, Androula Savva, Ulrike H Schmidt, Alexandra Schosser, Jochen Seitz, Lenka LS Slachtova, Agnieszka Slopien, Sandro Sorbi, Peter S Straub, Jin P Szatkiewicz, Friederike I Tam, Elena Tenconi, Alfonso Tortorella, Artemis Tsitsika, Annemarie A van Elburg, Gudrun Wagner, Hunna J Watson, Roger AH Adan, Lars Alfredsson, Ole A Andreassen, Helga Ask, Anders Børglum, Harry A Brandt, David Collier, Steven Crawford, Scott Crow, Lea K Davis, Martina de Zwaan, George Dedoussis, Danielle M Dick, Stefan Ehrlich, Xavier Estivill, Angela Favaro, Fernando Fernández-Aranda, Krista Fischer, Andreas J Forstner, Philip Gorwood, Hakon Hakonarson, Johannes Hebebrand, Beate Herpertz-Dahlmann, Anke Hinney, James I Hudson, Craig Johnson, Jennifer Jordan, Allan S Kaplan, Jaakko Kaprio, Andreas FK Karwautz, Martien JH Kas, Walter H Kaye, James L Kennedy, Martin A Kennedy, Anna Keski-Rahkonen, Youl-Ri Kim, Kelly L Klump, Mikael Landén, Stéphanie Le Hellard, Kelli Lehto, Qingqin S Li, Jolanta Lissowska, Jurjen J Luykx, Sarah L Maguire, Nicholas G Martin, Manuel Mattheisen, Sarah E Medland, Philip Mehler, Nadia Micali, James E Mitchell, Palmiero Monteleone, Preben Bo Mortensen, Benedetta Nacmias, Roel A Ophoff, Hana Papezova, Nancy L Pedersen, Liselotte V Petersen, Luisa S Rajcsanyi, Nicolas Ramoz, Ted Reichborn-Kjennerud, Valdo Ricca, Stephan Ripke, Dan Rujescu, Filip Rybakowski, Stephen W Scherer, Margarita CT Slof-Op ‘t Landt, Howard Steiger, Patrick F Sullivan, Beata Świątkowska, Eric F van Furth, Tracey D Wade, Thomas Werge, David C Whiteman, D. Blake Woodside, Ya-Ke Wu, Stephan Zipfel, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Estonian Biobank (EstBB), Cynthia M Bulik, Laura M Huckins, Gerome Breen, Jonathan RI Coleman.

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  • bioRxiv  ·  November 3, 2025  ·  Preprint

    A comprehensive view of somatic mosaicism by single-cell DNA analysis.

    Lovelace J Luquette, Tim H H Coorens, Abhiram Natu, Milovan Suvakov, Ann Caplin, Mee Sook Jun, Alisa Mo, Joe Pelt, Lisa Anderson, Michele Berselli, Sravya Bhamidipati, Thomas Blanchard, Joseph Brew, Hye-Jung E Chun, Hyunbin Chun, Mrunal K Dehankar, William C Feng, Rob Furatero, Christopher M Grochowski, Eric Ho, Yeongjun Jang, Kavya Kottapalli, M Kathryn Leonard, Nam Seop Lim, Tina Lindsay, Sarah Nicholson, Ivan Raimondi, Alexi Runnels, Constantijn Scharlee, JaeEun Shin, Alexander D Veit, Melissa VonDran, Yifan Wang, Dennis J Yuan, Yifan Zhao; SMaHT Single Cell Focus Group, Thomas J Bell, Kristin Ardlie, Harsha Doddapaneni, Robert Fulton, Soren Germer, Dan Landau, Ji Won Oh, Peter J Park, Flora M Vaccarino, Christopher Walsh, Alexej Abyzov.

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