Showing 1 - 20 results of 32 for search '"Genome Medicine"', query time: 0.07s Refine Results
  1. 1
    A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly

    A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly by Alba Escalera-Balsera, Paula Robles-Bolivar, Alberto M. Parra-Perez, Silvia Murillo-Cuesta, Han Chow Chua, Lourdes Rodríguez-de la Rosa, Julio Contreras, Ewa Domarecka, Juan Carlos Amor-Dorado, Andrés Soto-Varela, Isabel Varela-Nieto, Agnieszka J. Szczepek, Alvaro Gallego-Martinez, Jose A. Lopez-Escamez

    Published 2025-01-01
    “…Genome Medicine…”
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  2. 2
    Integrating pharmacogenomics and cheminformatics with diverse disease phenotypes for cell type-guided drug discovery

    Integrating pharmacogenomics and cheminformatics with diverse disease phenotypes for cell type-guided drug discovery by Arda Halu, Sarvesh Chelvanambi, Julius L. Decano, Joan T. Matamalas, Mary Whelan, Takaharu Asano, Namitra Kalicharran, Sasha A. Singh, Joseph Loscalzo, Masanori Aikawa

    Published 2025-01-01
    “…Genome Medicine…”
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  3. 3
    Nanopore-based random genomic sampling for intraoperative molecular diagnosis

    Nanopore-based random genomic sampling for intraoperative molecular diagnosis by Francesco E. Emiliani, Abdol Aziz Ould Ismail, Edward G. Hughes, Gregory J. Tsongalis, George J. Zanazzi, Chun-Chieh Lin

    Published 2025-01-01
    “…Genome Medicine…”
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  4. 4
    TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate

    TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate by Paula Rofes, Carmen Castillo-Manzano, Mireia Menéndez, Álex Teulé, Sílvia Iglesias, Elisabet Munté, Mireia Ramos-Muntada, Carolina Gómez, Eva Tornero, Esther Darder, Eva Montes, Laura Valle, Gabriel Capellá, Marta Pineda, Joan Brunet, Lidia Feliubadaló, Jesús del Valle, Conxi Lázaro

    Published 2025-01-01
    “…Genome Medicine…”
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  5. 5
    SenPred: a single-cell RNA sequencing-based machine learning pipeline to classify deeply senescent dermal fibroblast cells for the detection of an in vivo senescent cell burden

    SenPred: a single-cell RNA sequencing-based machine learning pipeline to classify deeply senescent dermal fibroblast cells for the detection of an in vivo senescent cell burden by Bethany K. Hughes, Andrew Davis, Deborah Milligan, Ryan Wallis, Federica Mossa, Michael P. Philpott, Linda J. Wainwright, David A. Gunn, Cleo L. Bishop

    Published 2025-01-01
    “…Genome Medicine…”
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  6. 6
    Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

    Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance by Irena Josephina Johanna Muffels, Hans R. Waterham, Giuseppina D’Alessandro, Guido Zagnoli-Vieira, Michael Sacher, Dirk J. Lefeber, Celine Van der Vinne, Chaim M. Roifman, Koen L. I. Gassen, Holger Rehmann, Desiree Y. Van Haaften-Visser, Edward S. S. Nieuwenhuis, Stephen P. Jackson, Sabine A. Fuchs, Femke Wijk, Peter van Hasselt

    Published 2025-02-01
    “…Genome Medicine…”
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  7. 7
    Digital twins as global learning health and disease models for preventive and personalized medicine

    Digital twins as global learning health and disease models for preventive and personalized medicine by Xinxiu Li, Joseph Loscalzo, A. K. M. Firoj Mahmud, Dina Mansour Aly, Andrey Rzhetsky, Marinka Zitnik, Mikael Benson

    Published 2025-02-01
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  8. 8
    Multi-omics uncovers immune-modulatory molecules in plasma contributing to resistance exercise-ameliorated locomotor disability after incomplete spinal cord injury

    Multi-omics uncovers immune-modulatory molecules in plasma contributing to resistance exercise-ameliorated locomotor disability after incomplete spinal cord injury by Ren Zhou, Jibao Chen, Yunhan Tang, Chuijin Wei, Ping Yu, Xinmei Ding, Li’ao Zhu, Jiajia Yao, Zengqiang Ouyang, Jing Qiao, Shumin Xiong, Liaoliao Dong, Tong Yin, Haiqing Li, Ye Feng, Lin Cheng

    Published 2025-02-01
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  9. 9
    A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission

    A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission by Benjamin Sobkowiak, Patrick Cudahy, Melanie H. Chitwood, Taane G. Clark, Caroline Colijn, Louis Grandjean, Katharine S. Walter, Valeriu Crudu, Ted Cohen

    Published 2025-01-01
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  10. 10
    Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone

    Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone by Jianping Jiang, Astrid V. Cienfuegos-Galletd, Tengfei Long, Gisele Peirano, Tingyu Chu, Johann D. D. Pitout, Barry N. Kreiswirth, Liang Chen

    Published 2025-01-01
    “…Genome Medicine…”
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  11. 11
    Meta-analyses of mouse and human prostate single-cell transcriptomes reveal widespread epithelial plasticity in tissue regression, regeneration, and cancer

    Meta-analyses of mouse and human prostate single-cell transcriptomes reveal widespread epithelial plasticity in tissue regression, regeneration, and cancer by Luis Aparicio, Laura Crowley, John R. Christin, Caroline J. Laplaca, Hanina Hibshoosh, Raul Rabadan, Michael M. Shen

    Published 2025-01-01
    “…Genome Medicine…”
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  12. 12
    Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders

    Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders by Heonjong Han, Go Hun Seo, Seong-In Hyun, Kisang Kwon, Seung Woo Ryu, Rin Khang, Eugene Lee, JiHye Kim, Yongjun Song, Won Chan Jeong, Joohyun Han, Dong-wook Kim, Soyeon Yang, Sohyun Lee, Sohyun Jang, Jungsul Lee, Hane Lee

    Published 2025-01-01
    “…npj Genomic Medicine…”
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  13. 13
    Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador

    Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador by Gemma Llargués-Sistac, Laia Bonjoch, Jenifer Muñoz, Xavier Domínguez-Rovira, Teresa Ocaña, Maria Isabel Alvarez-Mora, Celia Badenas, Anna Esteve-Codina, Carlos Reyes-Silva, Gabriela Jaramillo-Koupermann, Maria Teresa Rodrigo, Sandra López-Prades, Miriam Cuatrecasas, Antoni Castells, Francesc Balaguer, Leticia Moreira, Guerau Fernandez, Sergi Castellví-Bel

    Published 2025-01-01
    “…npj Genomic Medicine…”
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  14. 14
    Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes

    Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes by Jesper Just, Lukas Ochsner Reynaud Ridder, Emma Bruun Johannsen, Jens Magnus Bernth Jensen, Mikkel Steen Petersen, Helene Viborg Christensen, Kenneth Kjærgaard, Jacob Redder, Simon Chang, Kirstine Stochholm, Anne Skakkebæk, Claus Højbjerg Gravholt

    Published 2025-02-01
    “…npj Genomic Medicine…”
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  15. 15
    Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome

    Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome by Klaudia Horti-Oravecz, Anikó Bozsik, Tímea Pócza, Ildikó Vereczkey, Tamás Strausz, Erika Tóth, Tatiana Sedlackova, Diana Rusnakova, Tomas Szemes, István Likó, Edit Oláh, Henriett Butz, Attila Patócs, János Papp, Vince Kornél Grolmusz

    Published 2025-01-01
    “…npj Genomic Medicine…”
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  16. 16
    Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient

    Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient by Hanno Schmidt, Lea Schick, Jürgen Podlech, Angélique Renzaho, Bettina Lieb, Stefan Diederich, Thomas Hankeln, Bodo Plachter, Oliver Kriege

    Published 2025-01-01
    “…npj Genomic Medicine…”
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  17. 17
    Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays

    Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays by Fuying Chen, Ruoqu Wei, Yumeng Wang, Qiaoyu Cao, Jianbo Wang, Chenfei Wang, Dingjin Yao, Zhirong Yao, Cheng Ni, Ming Li

    Published 2025-02-01
    “…npj Genomic Medicine…”
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  18. 18
    Polygenic height prediction for the Han Chinese in Taiwan

    Polygenic height prediction for the Han Chinese in Taiwan by Chih-Hao Chang, Che-Yu Chou, Timothy G. Raben, Shih-Ann Chen, Yuh-Jyh Jong, Jeng-Yih Wu, Shun-Fa Yang, Hsiang-Cheng Chen, Yen-Lin Chen, Ming Chen, Gwo-Chin Ma, Chih-Yang Huang, Tso-Fu Wang, Sing-Lian Lee, Chen-Fang Hung, See-Tong Pang, Erik Widen, Yao-Ming Chang, Erh-Chan Yeh, Chun-Yu Wei, Chien-Hsiun Chen, Stephen D. H. Hsu, Pui-Yan Kwok

    Published 2025-02-01
    “…npj Genomic Medicine…”
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  19. 19
    Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing

    Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing by Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W. Scherer, Chaim M. Roifman

    Published 2025-01-01
    “…npj Genomic Medicine…”
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  20. 20
    A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report

    A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report by Zahra Anvar, Farnoosh Jafarpour, Bahia Namavar Jahromi, Andrea Riccio, Mohammad Hossein Nasr‐Esfahani, Maria Vittoria Cubellis

    Published 2025-01-01
    “…Molecular Genetics & Genomic Medicine…”
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