Works matching DE "WHOLE genome sequencing"

Results: 5000
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    In‐frame insertions of SOX10 are highly enriched and characterize a distinct transcriptomic profile in gastrointestinal schwannomas.

    Published in:
    Journal of Pathology, 2025, v. 266, n. 3, p. 268, doi. 10.1002/path.6426
    By:
    • Lee, Pei‐Hang;
    • Huang, Shih‐Chiang;
    • Lee, Jen‐Chieh;
    • Li, Sung‐Chou;
    • Tsai, Jen‐Wei;
    • Chang, Yi‐Ming;
    • Kao, Yu‐Chien;
    • Fan, Wen‐Lang;
    • Chang, Ching‐Di;
    • Chen, Hui‐Chun;
    • Li, Chih‐Hao;
    • Hu, Chia‐Fa;
    • Liu, Ting‐Ting;
    • Wu, Pao‐Shu;
    • Nam, Mann‐Hua;
    • Yu, Shih‐Chen;
    • Wang, Jui‐Chu;
    • Huang, Hsuan‐Ying
    Publication type:
    Article
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    From genomics to treatment: overcoming pan-drug-resistant Klebsiella pneumoniae in clinical settings.

    Published in:
    Frontiers in Pharmacology, 2025, p. 1, doi. 10.3389/fphar.2025.1570278
    By:
    • Pasteran, Fernando;
    • Manuel De Mendieta, Juan;
    • Pujato, Natalia;
    • Dotta, Gina;
    • González, Lisandro J.;
    • Rizzo, Mabel;
    • Fernández, Alejandra;
    • Ceriana, Paola;
    • Maccari, Lucia;
    • Rapoport, Melina;
    • Gómez, Sonia;
    • Lucero, Celeste;
    • Menocal, María Alejandra;
    • Albornoz, Ezequiel;
    • De Belder, Denise;
    • Radisic, Marcelo;
    • Vila, Alejandro J.;
    • Corso, Alejandra
    Publication type:
    Article
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    MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00506-3
    By:
    • Peterson, Bennet;
    • Juarez, Edwin F.;
    • Moore, Barry;
    • Hernandez, Edgar Javier;
    • Frise, Erwin;
    • Li, Jianrong;
    • Lussier, Yves;
    • Tristani-Firouzi, Martin;
    • Reese, Martin G.;
    • Malone Jenkins, Sabrina;
    • Kingsmore, Stephen F.;
    • Bainbridge, Matthew N.;
    • Yandell, Mark
    Publication type:
    Article
    16

    Broad geographical circulation of a novel vesiculovirus in bats in the Mediterranean region.

    Published in:
    PLoS Neglected Tropical Diseases, 2025, v. 19, n. 6, p. 1, doi. 10.1371/journal.pntd.0013172
    By:
    • Luo, Dong-Sheng;
    • Harazim, Markéta;
    • Maufrais, Corinne;
    • Bonas, Simon;
    • Martinkova, Natalia;
    • Lalis, Aude;
    • Nakouné, Emmanuel;
    • Adjogoua, Edgard Valéry;
    • Douno, Mory;
    • Kadjo, Blaise;
    • López-Roig, Marc;
    • Pikula, Jiri;
    • Shi, Zheng-Li;
    • Bourhy, Hervé;
    • Serra-Cobo, Jordi;
    • Dacheux, Laurent
    Publication type:
    Article
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    Complete Genome Sequencing of a G3P[14] Rabbit Rotavirus.

    Published in:
    Animals (2076-2615), 2025, v. 15, n. 11, p. 1548, doi. 10.3390/ani15111548
    By:
    • Omar, Ahmed Hassan;
    • Pellegrini, Francesco;
    • Catella, Cristiana;
    • Diakoudi, Georgia;
    • Salvaggiulo, Anna;
    • Casalino, Gaia;
    • Circella, Elena;
    • D'Amico, Francesco;
    • Schiavitto, Michele;
    • Camarda, Antonio;
    • Camero, Michele;
    • Bányai, Krisztián;
    • Matthijnssens, Jelle;
    • Ciarlet, Max;
    • Martella, Vito;
    • Lanave, Gianvito
    Publication type:
    Article
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    A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5296, doi. 10.3390/ijms26115296
    By:
    • AlTassan, Ruqaiah;
    • AlQudairy, Hanan;
    • Saydo, Biam;
    • Alammari, Aseel;
    • Londoño, Kelly J. Cardona;
    • Ramzan, Khushnooda;
    • Colak, Dilek;
    • Arold, Stefan T.;
    • Kaya, Namik
    Publication type:
    Article
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    Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5213, doi. 10.3390/ijms26115213
    By:
    • Al-Maraghi, Aljazi;
    • Shaath, Rulan;
    • Ford, Katherine;
    • Aamer, Waleed;
    • AlRayahi, Jehan;
    • Hussein, Sura;
    • Aliyev, Elbay;
    • Agrebi, Nourhen;
    • Kohailan, Muhammad;
    • Hubrack, Satanay Z.;
    • Palaniswamy, Sasirekha;
    • Kennedy, Adam D.;
    • DeBalsi, Karen L.;
    • Elsea, Sarah H.;
    • Benini, Ruba;
    • Ben-Omran, Tawfeg;
    • Lo, Bernice;
    • Akil, Ammira S. A.;
    • Fakhro, Khalid A.
    Publication type:
    Article
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    Monitoring the rate and variability of somatic genomic alterations using long-read sequencing.

    Published in:
    Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-01690-z
    By:
    • Chen, Xingyao;
    • Ligumsky, Hagai;
    • Ambrose, Charlie;
    • Sibrian, Denisse;
    • Tran, Brian;
    • Arif, Daoud;
    • Castellanos, Olga;
    • Kessner, Darren;
    • Luo, Hanyi;
    • Ubale, Mukta;
    • Coleman, Abigail;
    • Mahaganapathy, Vaidhyanathan;
    • Jönsson, Thomas J.;
    • Basho, Reva K.;
    • Lee, Jerry S. H.;
    • Matasci, Naim;
    • Agus, David B.
    Publication type:
    Article
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    Rapid identification of a Serratia marcescens outbreak in a neonatal intensive care unit by third-generation long-read nanopore sequencing.

    Published in:
    Antimicrobial Resistance & Infection Control, 2025, v. 14, n. 1, p. 1, doi. 10.1186/s13756-025-01582-x
    By:
    • Henares, Desiree;
    • Cubero, Meritxell;
    • Martinez-de-Albeniz, Irene;
    • Arranz, Alba;
    • Rocafort, Muntsa;
    • Brotons, Pedro;
    • Perez-Argüello, Amaresh;
    • Troyano, Maria Jose;
    • Gene, Amadeu;
    • Lluansi, Aleix;
    • Iriondo-Sanz, Marti;
    • Jordan, Iolanda;
    • Fortuny, Claudia;
    • Urrea, Mireia;
    • Muñoz-Almagro, C
    Publication type:
    Article
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