Preprint > Page 6
  • bioRxiv  ·  December 2, 2025  ·  Preprint

    Multiscale Spatial Transcriptomic Atlas of Human Basal Ganglia Cell-Type and Cellular Community Organization.

    Bereket Tesfay Berackey, Zhiqun Tan, Ginny Wu, Sujan C Das, Ren Li, Benjamin Esser, Qiao Ye, Mahsa Nafisi, Samuel S Park, Pedro Adolfo Sequeira Mendieta, Jillian Berry, Firoza Mamdani, Quan Zhu, Todd C Holmes, Daofeng Li, Ting Wang, M. Margarita Behrens, Bing Ren, Joseph R Ecker, Bogdan Bintu, Xiangmin Xu.

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  • medRxiv  ·  December 3, 2025  ·  Preprint

    Machine Learning-Based Prediction of Cell-type Resolved Brain eQTLs Enhances Discovery of Variants Explainin.g Alzheimer’s Disease Heritability

    Chirag M Lakhani, Giacomo Cavalca, Anjing Liu, Rohan Nidumbur, Ru Feng, Towfique Raj, Philip De Jager, The Alzheimer’s Disease Functional Genomics Consortium, Gao Wang, David A. Knowles.

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  • medRxiv  ·  December 2, 2025  ·  Preprint

    Sex-Specific Genetic Architecture and Comorbidities of Alcohol Use Behaviors.

    Laura Vilar-Ribó, Mariela V Jennings, Aisha Sallah, Zeal Jinwala, Hayley HA Thorpe, Sevim B Bianchi, John Meredith, Kyra Feuer, Lydia Rader, Natasia Courchesne-Krak, Maria Niarchou, Jared Balbona, 23andMe Research Team, Sarah L Elson, Pierre Fontanillas, Emma C Johnson, Lea K Davis, Alexander S Hatoum, Travis T Mallard, Daniel E Gustavson, Hang Zhou, Abraham A Palmer, Jeanne E Savage, Rachel L Kember, Sandra Sanchez-Roige

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  • 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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