Publication > Page 30
  • The Journal of Clinical Investigation  ·  November 14, 2023

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

    Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea K. Petersen, Luis A. Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlíková Pourová, Zdenek Sedlacek, Beth A. Keena, Michael E. March, Cuiping Hou, Nora O’Connor, Elizabeth J. Bhoj, Margaret H. Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J. Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tugce B. Balci, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, Catherine B. Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, Mahdi M. Motazacker, Julian A. Martinez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni-Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M. Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, et al.

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  • Nature Genetics  ·  November 9, 2023

    Most large structural variants in cancer genomes can be detected without long reads.

    Zi-Ning Choo, Julie M. Behr, Aditya Deshpande, Kevin Hadi, Xiaotong Yao, Huasong Tian, Kaori Takai, George Zakusilo, Joel Rosiene, Arnaud Da Cruz Paula, Britta Weigelt, Jeremy Setton, Nadeem Riaz, Simon N. Powell, Klaus Busam, Alexander N. Shoushtari, Charlotte Ariyan, Jorge Reis-Filho, Titia de Lange & Marcin Imieliński

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  • Frontiers in Immunology  ·  October 24, 2023

    Heterozygote advantage at HLA class I and II loci and reduced risk of colorectal cancer.

    Ya-Yu Tsai, Chenxu Qu, Joseph D Bonner, Rebeca Sanz-Pamplona, Sidney S Lindsey, Marilena Melas, Kevin J McDonnell, Gregory E Idos, Christopher P Walker, Kevin K Tsang, Diane M Da Silva, Ferran Moratalla-Navarro, Asaf Maoz, Hedy S Rennert, W Martin Kast, Joel K Greenson, Victor Moreno, Gad Rennert, Stephen B Gruber, Stephanie L Schmit

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  • Molecular Psychiatry  ·  October 5, 2023

    Astrocytic β-catenin signaling via TCF7L2 regulates synapse development and social behavior.

    Lukasz Mateusz Szewczyk, Marcin Andrzej Lipiec, Ewa Liszewska, Ksenia Meyza, Joanna Urban-Ciecko, Ludwika Kondrakiewicz, Anna Goncerzewicz, Kamil Rafalko, Tomasz Grzegorz Krawczyk, Karolina Bogaj, Ilia Davidovich Vainchtein, Hiromi Nakao-Inoue, Alicja Puscian, Ewelina Knapska, Stephan J. Sanders, Tomasz Jan Nowakowski, Anna Victoria Molofsky & Marta Barbara Wisniewska

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  • The American Journal of Human Genetics  ·  October 5, 2023

    Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction.

    Xi Shi, Congyi Lu, Alba Corman, Alexandra Nikish, Yang Zhou, Randy J. Platt, Ivan Iossifov, Feng Zhang, Jen Q. Pan, Neville E. Sanjana

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  • The American Journal of Human Genetics  ·  October 5, 2023

    Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.

    Yuxuan Wang, Margaret Sunitha Selvaraj, Xihao Li, Zilin Li, Jacob A. Holdcraft, Donna K. Arnett, Joshua C. Bis, John Blangero, Eric Boerwinkle, Donald W. Bowden, Brian E. Cade, Jenna C. Carlson, April P. Carson, Yii-Der Ida Chen, Joanne E. Curran, Paul S. de Vries, Susan K. Dutcher, Patrick T. Ellinor, James S. Floyd, Myriam Fornage, Barry I. Freedman, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Xiuqing Guo, Jiang He, Nancy Heard-Costa, Bertha Hildalgo, Lifang Hou, Marguerite R. Irvin, Roby Joehanes, Robert C. Kaplan, Sharon LR. Kardia, Tanika N. Kelly, Ryan Kim, Charles Kooperberg, Brian G. Kral, Daniel Levy, Changwei Li, Chunyu Liu, Don Lloyd-Jone, Ruth JF. Loos, Michael C. Mahaney, Lisa W. Martin, Rasika A. Mathias, Ryan L. Minster, Braxton D. Mitchell, May E. Montasser, Alanna C. Morrison, Joanne M. Murabito, Take Naseri, Jeffrey R. O’Connell, Nicholette D. Palmer, Michael H. Preuss, Bruce M. Psaty, Laura M. Raffield, Dabeeru C. Rao, Susan Redline, Alexander P. Reiner, Stephen S. Rich, Muagututi’a Sefuiva Ruepena, Wayne H.-H. Sheu, Jennifer A. Smith, Albert Smith, Hemant K. Tiwari, Michael Y. Tsai, Karine A. Viaud-Martinez, Zhe Wang, Lisa R. Yanek, Wei Zhao, Jerome I. Rotter, Xihong Lin, Pradeep Natarajan, Gina M. Peloso

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  • bioRxiv  ·  October 2, 2023

    Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.

    Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A. Martins Moreno, Zhong Ren, Hemali Phatnani, The New York Genome Center ALS Sequencing Consortium, Timothy J Aitman, Javier Santoyo-Lopez, Scottish Genomes Partnership, GTAC Investigators, David B Goldstein, Matthew B Harms

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  • Acta Neuropathologica Communications  ·  September 28, 2023

    Integration of single-nuclei RNA-sequencing, spatial transcriptomics and histochemistry defines the complex microenvironment of NF1-associated plexiform neurofibromas.

    Vladimir Amani, Kent A. Riemondy, Rui Fu, Andrea M. Griesinger, Enrique Grimaldo, Graziella Ribeiro De Sousa, Ahmed Gilani, Molly Hemenway, Nicholas K. Foreman, Andrew M. Donson & Nicholas Willard

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  • Nature Immunology  ·  September 21, 2023

    Multimodal single-cell datasets characterize antigen-specific CD8+ T cells across SARS-CoV-2 vaccination and infection.

    Bingjie Zhang, Rabi Upadhyay, Yuhan Hao, Marie I. Samanovic, Ramin S. Herati, John D. Blair, Jordan Axelrad, Mark J. Mulligan, Dan R. Littman & Rahul Satija

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