Publication > Page 10
  • Cell Reports  ·  August 25, 2025

    Activation of polo-like kinase 1 correlates with selective motor neuron vulnerability in familial ALS.

    Barbara Szewczyk, Vitaly Zimyanin, Julia Japtok, Aaron Held, Arun Pal, Dajana Großmann, Hannes Glaß, Alexandra V. Jürs, Banaja P. Dash, Maciek Bak, Marcel Naumann, Christiane Hartmann, Olena Kuksenko, René Günther, Tzu-Ting Kao, Katrin Sameith, Andreas Dahl, Jared Sterneckert, Eleonora Aronica, Neil A. Shneider, Andreas Büttner, Alberto Catanese, Hemali Phatnani, Markus Kipp, Brian J. Wainger, Anand Goswami, Andreas Hermann.

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  • Genome Medicine  ·  August 20, 2025

    Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.

    Soo-Whee Kim, Hyeji Lee, Da Yea Song, Gang-Hee Lee, Jae Hyun Han, Jee Won Lee, Hee Jung Byun, Ji Hyun Son, Ye Rim Kim, Yoojeong Lee, Eunjoon Kim, Donna M. Werling, So Hyun Kim, Stephan J. Sanders, Hee Jeong Yoo, Joon-Yong An.

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  • Genome Research  ·  August 21, 2025

    Estimating the size of long tandem repeat expansions from short reads with ScatTR.

    Rashid Al-Abri, Gamze Gursoy.

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  • Critical Reviews in Oncology/Hematology  ·  August 20, 2025

    Targeting cancer metabolism: Therapeutic potential of the fatty acid synthase (FASN) inhibitors.

    Pier Vitale Nuzzo, Silvia Rodrigues, Caroline Fidalgo Ribeiro, Isadora Ferrari Teixeira, Giuseppe Nicolo’ Fanelli, Sara Bleve, Francesco Ravera, Hubert Pakula, Filippo Pederzoli, David M Nanus, Massimo Loda.

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  • Clinical Cancer Research  ·  August 20, 2025

    Evolution and co-occurrence of PI3K pathway gene mutations in endometrial carcinoma molecular subtypes at the single-cell level.

    Arnaud Da Cruz Paula, Yingjie Zhu, David N Brown, Shirin Issa Bhaloo, Fresia Pareja, Timothy J Hoang, Hunter Green, Thais Basili, Higinio Dopeso, Pier Selenica, Edaise M da Silva, Nadeem Riaz, Sarat Chandarlapaty, Nadeem R Abu-Rustum, Jorge S Reis-Filho, Britta Weigelt.

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  • European Heart Journal  ·  August 19, 2025

    LIPA, a risk locus for coronary artery disease: decoding the variant-to-function relationship.

    Fang Li, Elise Flynn, Philip Ha, Mazal N Zebak, Haoxiang Cheng, Chenyi Xue, Jianting Shi, Xun Wu, Ziyi Wang, Yujiao Meng, Jian Cui, Yizhou Zhu, Annie Rozenblyum, Jeana Chun, Antonio Hernandez-Ono, Ali Javaheri, Babak Razani, Marit Westerterp, Robert C Bauer, Yousin Suh, Ke Hao, Tuuli Lappalainen, Hanrui Zhang.

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  • Nature Communications  ·  August 12, 2025

    Improving reproducibility of differentially expressed genes in single-cell transcriptomic studies of neurodegenerative diseases through meta-analysis.

    Nathan Nakatsuka, Drew Adler, Longda Jiang, Austin Hartman, Evan Cheng, Eric Klann, Rahul Satija.

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  • Science  ·  August 7, 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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  • Frontiers in Systems Biology  ·  July 2, 2025

    Learning Gaussian Graphical Models from Correlated Data.

    Zeyuan Song, Sophia Gunn, Stefano Monti, Gina Marie Peloso, Ching-Ti Liu, Kathryn Lunetta, Paola Sebastiani.

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  • JAMA Internal Medicine  ·  August 1, 2025

    Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.

    Chenjie Zeng, Sangwoo T Han, Thomas A Cassini, Karen S Raraigh, Tam C Tran, James Yang, Garry R Cutting, Joshua C Denny.

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