Publication
  • Prenatal Diagnosis  ·  June 12, 2025

    Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell-Silver Syndrome in Infancy.

    Amanda Thomas-Wilson, Mythily Ganapathi, Nina Harkavy, Corbin Schwanke, Jessica Giordano, Abdallah F. Elias, Ronald J. Wapner, Vaidehi Jobanputra

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  • Alzheimer's & Dementia  ·  June 11, 2025

    GWAS links APOE to neuropsychiatric symptoms in mild cognitive impairment and dementia

    Selina M. Vattathil, Freida Blostein, Tyne W. Miller-Fleming, Lea K. Davis, Alzheimer’s Disease Genetics Consortium (ADGC), Alzheimer’s Disease Neuroimaging Initiative, Thomas S. Wingo, Aliza P. Wingo

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  • Science  ·  May 29, 2025

    Predicting expression-altering promoter mutations with deep learning.

    Kishore Jaganathan, Nicole Ersaro, Gherman Novakovsky, Yuchuan Wang, Terena James, Jeremy Schwartzentruber, Petko Fiziev, Irfahan Kassam, Fan Cao, Johann Hawe, Henry Cavanagh, Ashley Lim, Grace Png, Jeremy McRae, Abhimanyu Banerjee, Arvind Kumar, Jacob Ulirsch, Yan Zhang, Francois Aguet, Pierrick Wainschtein, Laksshman Sundaram, Adriana Salcedo, Sofia Kyriazopoulou Panagiotopoulou, Delasa Aghamirzaie, Evin Padhi, Ziming Weng, Shan Dong, Damian Smedley, Mark Caulfield, Anne O’Donnell-Luria, Heidi L Rehm, Stephan J Sanders, Anshul Kundaje, Stephen B Montgomery, Mark T Ross, Kyle Kai-How Farh

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  • Nature Communications  ·  May 23, 2025

    Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity.

    Michael Kosicki, Dianne Laboy Cintrón, Pia Keukeleire, Max Schubach, Nicholas F. Page, Ilias Georgakopoulos-Soares, Jennifer A. Akiyama, Ingrid Plajzer-Frick, Catherine S. Novak, Momoe Kato, Riana D. Hunter, Kianna von Maydell, Sarah Barton, Patrick Godfrey, Erik Beckman, Stephan J. Sanders, Martin Kircher, Len A. Pennacchio & Nadav Ahituv

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  • AMIA Annual Proceedings Symposium Archive  ·  May 22, 2025

    Toward Identifying New Risk Aversions and Subsequent Limitations and Biases When Making De-identified Structured Data Sets Openly Available in a Post-LLM world.

    Fangyi Chen, Kenrick Cato, Gamze Gürsoy, Patricia C Dykes, Graham Lowenthal, Sarah Rossetti

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  • Cell Stem Cell  ·  May 22, 2025

    Deconvoluting clonal and cellular architecture in IDH-mutant acute myeloid leukemia.

    Maria Sirenko, Soobeom Lee, Zhengxi Sun, Ronan Chaligne, Sanam Loghavi, Georgios Asimomitis, Charlotte K Brierley, Elsa Bernard, Sheng F Cai, Robert M Myers, Bettina Nadorp, Junya Sango, Morgan Lallo, Max F Levine, Dylan Domenico, Juan E Arango Ossa, Juan S Medina-Martinez, Kamal Menghrajani, Audrey Lasry, Alice S Mims, Helee Desai, Andrea Laganson, Chris Famulare, Minal Patel, Gerard Lozanski, Kelly L Bolton, Aaron D Viny, Mikhail Roshal, Ross L Levine, Eirini P Papapetrou, Eytan M Stein, Dan A Landau, Ann-Kathrin Eisfeld, Iannis Aifantis, Elli Papaemmanuil.

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  • Nature Communications  ·  May 21, 2025

    APOBEC affects tumor evolution and age at onset of lung cancer in smokers.

    Tongwu Zhang, Jian Sang, Phuc H. Hoang, Wei Zhao, Jennifer Rosenbaum, Kofi Ennu Johnson, Leszek J. Klimczak, John McElderry, Alyssa Klein, Christopher Wirth, Erik N. Bergstrom, Marcos Díaz-Gay, Raviteja Vangara, Frank Colon-Matos, Amy Hutchinson, Scott M. Lawrence, Nathan Cole, Bin Zhu, Teresa M. Przytycka, Jianxin Shi, Neil E. Caporaso, Robert Homer, Angela C. Pesatori, Dario Consonni, Marcin Imieliński, Stephen J. Chanock, David C. Wedge, Dmitry A. Gordenin, Ludmil B. Alexandrov, Reuben S. Harris & Maria Teresa Landi

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  • Atherosclerosis  ·  May 20, 2025

    Epigenetic mechanisms underlying variation of IL-6, a well-established inflammation biomarker and risk factor for cardiovascular disease.

    Jessica I Lundin, Ulrike Peters, Yao Hu, Farah Ammous, Emelia J Benjamin, Joshua C Bis, Jennifer A Brody, Mary Cushman, Harriett Fuller, Chris Gignoux, Xiuqing Guo, Jeff Haessler, Chris Haiman, Roby Joehanes, Silva Kasela, Eimear Kenny, Tuuli Lappalainen, Daniel Levy, Chunyu Liu, Yongmei Liu, Ruth J F Loos, Tara Matise, Kari E North, Sungshim L Park, Scott M Ratliff, Alex Reiner, Stephen S Rich, Jerome I Rotter, Jennifer A Smith, Nona Sotoodehnia, Russell Tracy, David Van den Berg, Ting Ye, Wei Zhao, Laura M Raffield, Charles Kooperberg; PAGE Study

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  • Schizophrenia Research  ·  May 19, 2025

    Clinical Characteristics associated with functional seizures in individuals with psychosis.

    Allison M Lake, India A Reddy, Robert Havranek, Lea K Davis, Jonah Fox.

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  • Nature Genetics  ·  May 16, 2025

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

    Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, … Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz, Madeleine Harris, Julia Hentschel, Bénédicte Héron, Marc-Phillip Hitz, A. Micheil Innes, Vincent Jadas, Louis Januel, Nolwenn Jean-Marçais, Vaidehi Jobanputra, … Rami Abou Jamra, Delphine Héron, Cyril Mignot, Pierre Blanc, Anne O’Donnell-Luria, Nicola Whiffin, Camille Charbonnier, Clément Charenton, Julien Thevenon & Christel Depienne

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