Works matching IS 1756994X AND DT 2025 AND VI 17 AND IP 1

Results: 68
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    Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01448-2
    By:
    • Zwartkruis, M. M.;
    • Elferink, M. G.;
    • Gommers, D.;
    • Signoria, I.;
    • Blasco-Pérez, L.;
    • Costa-Roger, M.;
    • van der Sel, J.;
    • Renkens, I. J.;
    • Green, J. W.;
    • Kortooms, J. V.;
    • Vermeulen, C.;
    • Straver, R.;
    • van Deutekom, H. W. M.;
    • Veldink, J. H.;
    • Asselman, F.;
    • Tizzano, E. F.;
    • Wadman, R. I.;
    • van der Pol, W. L.;
    • van Haaften, G. W.;
    • Groen, E. J. N.
    Publication type:
    Article
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    Genomic alterations and transcriptional phenotypes in circulating free DNA and matched metastatic tumor.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01438-4
    By:
    • Takahashi, Nobuyuki;
    • Pongor, Lorinc;
    • Agrawal, Shivam P.;
    • Shtumpf, Mariya;
    • Gurjar, Ankita;
    • Rajapakse, Vinodh N.;
    • Shafiei, Ahmad;
    • Schultz, Christopher W.;
    • Kim, Sehyun;
    • Roame, Diana;
    • Carter, Paula;
    • Vilimas, Rasa;
    • Nichols, Samantha;
    • Desai, Parth;
    • Figg Sr., William Douglas;
    • Bagheri, Mohammad;
    • Teif, Vladimir B.;
    • Thomas, Anish
    Publication type:
    Article
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    Enhancing infectious intestinal disease diagnosis through metagenomic and metatranscriptomic sequencing of 1000 human diarrhoeal samples.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01478-w
    By:
    • Cunningham-Oakes, Edward;
    • Perez-Sepulveda, Blanca M.;
    • Li, Yan;
    • Hinton, Jay C. D.;
    • Nelson, Charlotte A.;
    • McIntyre, K. Marie;
    • Wardeh, Maya;
    • Haldenby, Sam;
    • Gregory, Richard;
    • Iturriza-Gómara, Miren;
    • Hertz-Fowler, Christiane;
    • O'Brien, Sarah J.;
    • Cunliffe, Nigel A.;
    • Darby, Alistair C.;
    • on behalf of the INTEGRATE consortium;
    • Bolton, Frederick J;
    • Christley, Rob M;
    • Clough, Helen E;
    • Dawson, Susan;
    • Deja, Elizabeth
    Publication type:
    Article
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    Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01464-2
    By:
    • Martin-Geary, Alexandra C.;
    • Blakes, Alexander J.M.;
    • Dawes, Ruebena;
    • Findlay, Scott D.;
    • Lord, Jenny;
    • Dong, Shan;
    • Walker, Susan;
    • Talbot-Martin, Jonathan;
    • Wieder, Nechama;
    • D'Souza, Elston N.;
    • Fernandes, Maria;
    • Hilton, Sarah;
    • Lahiri, Nayana;
    • Campbell, Christopher;
    • Jenkinson, Sarah;
    • DeGoede, Christian G.E.L.;
    • Anderson, Emily R.;
    • Candler, Toby;
    • Firth, Helen;
    • Burge, Christopher B.
    Publication type:
    Article
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    The TyphiNET data visualisation dashboard: unlocking Salmonella Typhi genomics data to support public health.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01470-4
    By:
    • Dyson, Zoe A.;
    • Cerdeira, Louise;
    • Sharma, Vandana;
    • Carey, Megan E.;
    • Holt, Kathryn E.;
    • Aanensen, David M.;
    • Abbas, Ali H.;
    • Fayad, Antoine Abou;
    • Afolayan, Ayorinde O.;
    • Ahmed, Niyaz;
    • Ahmed, Irshad;
    • Amir, Afreenish;
    • Andleeb, Saadia;
    • Argimón, Silvia;
    • Aseffa, Abraham;
    • Ashton, Philip M.;
    • Aworh, Mabel K.;
    • Bavdekar, Ashish R.;
    • Chattaway, Marie A.;
    • Chew, Ka Lip
    Publication type:
    Article
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    Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01482-0
    By:
    • Wegert, Jenny;
    • Appenzeller, Silke;
    • Treger, Taryn D.;
    • Streitenberger, Heike;
    • Ziegler, Barbara;
    • Bausenwein, Sabrina;
    • Vokuhl, Christian;
    • Parks, Conor;
    • Jüttner, Eva;
    • Gramlich, Susanne;
    • Ernestus, Karen;
    • Warman, Steven W.;
    • Fuchs, Jörg;
    • Hubertus, Jochen;
    • von Schweinitz, Dietrich;
    • Fröhlich, Birgit;
    • Jorch, Norbert;
    • Knöfler, Ralf;
    • Friedrich, Carsten;
    • Corbacioglu, Selim
    Publication type:
    Article
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    Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01471-3
    By:
    • Gridina, Maria;
    • Lagunov, Timofey;
    • Belokopytova, Polina;
    • Torgunakov, Nikita;
    • Nuriddinov, Miroslav;
    • Nurislamov, Artem;
    • Nazarenko, Lyudmila P.;
    • Kashevarova, Anna A.;
    • Lopatkina, Maria E.;
    • Vasilyev, Stanislav;
    • Zuev, Andrey;
    • Belyaeva, Elena O.;
    • Salyukova, Olga A.;
    • Cheremnykh, Aleksandr D.;
    • Sukhanova, Natalia N.;
    • Minzhenkova, Marina E.;
    • Markova, Zhanna G.;
    • Demina, Nina A.;
    • Stepanchuk, Yana;
    • Khabarova, Anna
    Publication type:
    Article
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    Simultaneous detection of pathogens and antimicrobial resistance genes with the open source, cloud-based, CZ ID platform.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01480-2
    By:
    • Lu, Dan;
    • Kalantar, Katrina L.;
    • Glascock, Abigail L.;
    • Chu, Victoria T.;
    • Guerrero, Estella S.;
    • Bernick, Nina;
    • Butcher, Xochitl;
    • Ewing, Kirsty;
    • Fahsbender, Elizabeth;
    • Holmes, Olivia;
    • Hoops, Erin;
    • Jones, Ann E.;
    • Lim, Ryan;
    • McCanny, Suzette;
    • Reynoso, Lucia;
    • Rosario, Karyna;
    • Tang, Jennifer;
    • Valenzuela, Omar;
    • Mourani, Peter M.;
    • Pickering, Amy J.
    Publication type:
    Article
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    Multi-omics analysis reveals immunosuppression in oesophageal squamous cell carcinoma induced by creatine accumulation and HK3 deficiency.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01465-1
    By:
    • Gao, Yingzhen;
    • He, Siyu;
    • Meng, Xiaoyan;
    • Zheng, Kun;
    • Cui, Heyang;
    • Cheng, Yikun;
    • Shen, Xinyuan;
    • Zhai, Yuanfang;
    • Zou, Binbin;
    • Wang, Fang;
    • Li, Hongyi;
    • Kong, Pengzhou;
    • Wang, Yanqiang;
    • Feng, Xuefei;
    • Yang, Bin;
    • Sun, Ruifang;
    • Meng, Yongsheng;
    • Xu, Enwei;
    • Guo, Yanlin;
    • Ding, Ning
    Publication type:
    Article
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    A multi-omic approach implicates novel protein dysregulation in post-traumatic stress disorder.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01473-1
    By:
    • Wang, Jiawei;
    • Liu, Yujing;
    • Li, Hongyu;
    • Nguyen, Tuan P.;
    • Soto-Vargas, John Lee;
    • Wilson, Rashaun;
    • Wang, Weiwei;
    • Lam, TuKiet T.;
    • Zhang, Chi;
    • Lin, Chen;
    • Alvarez, Victor E.;
    • Benedek, David;
    • Che, Alicia;
    • Cruz, Dianne A.;
    • Davis, David A.;
    • Hoffman, Ellen;
    • Huber, Bertrand R.;
    • Kaye, Alfred;
    • Labadorf, Adam T.;
    • Keane, Terence M.
    Publication type:
    Article
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    Regional and aging-specific cellular architecture of non-human primate brains.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01469-x
    By:
    • Wang, Yun-Mei;
    • Wang, Wen-Chao;
    • Pan, Yongzhang;
    • Zeng, Lin;
    • Wu, Jing;
    • Wang, Zheng-Bo;
    • Zhuang, Xiao-Lin;
    • Li, Ming-Li;
    • Cooper, David N.;
    • Wang, Sheng;
    • Shao, Yong;
    • Wang, Li-Min;
    • Fan, Ying-Yin;
    • He, Yonghan;
    • Hu, Xin-Tian;
    • Wu, Dong-Dong
    Publication type:
    Article
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    A genome-wide One Health study of Klebsiella pneumoniae in Norway reveals overlapping populations but few recent transmission events across reservoirs.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01466-0
    By:
    • Hetland, Marit A. K.;
    • Winkler, Mia A.;
    • Kaspersen, Håkon P.;
    • Håkonsholm, Fredrik;
    • Bakksjø, Ragna-Johanne;
    • Bernhoff, Eva;
    • Delgado-Blas, Jose F.;
    • Brisse, Sylvain;
    • Correia, Annapaula;
    • Fostervold, Aasmund;
    • Lam, Margaret M. C.;
    • Lunestad, Bjørn-Tore;
    • Marathe, Nachiket P.;
    • Raffelsberger, Niclas;
    • Samuelsen, Ørjan;
    • Sunde, Marianne;
    • Sundsfjord, Arnfinn;
    • Urdahl, Anne Margrete;
    • Wick, Ryan R.;
    • Löhr, Iren H.
    Publication type:
    Article
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    Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01440-w
    By:
    • Bennett, Jasmin J.;
    • Saint-Martin, Cécile;
    • Neumann, Bianca;
    • Männistö, Jonna M. E.;
    • Houghton, Jayne A. L.;
    • Empting, Susann;
    • Johnson, Matthew B.;
    • Laver, Thomas W.;
    • Locke, Jonathan M.;
    • Spurrier, Benjamin;
    • Wakeling, Matthew N.;
    • Banerjee, Indraneel;
    • Dastamani, Antonia;
    • Demirbilek, Hüseyin;
    • Mitchell, John;
    • Stange, Markus;
    • International Congenital Hyperinsulinism Consortium;
    • Abi Warde, Marie-Thérèse;
    • Amrita, Mehta;
    • Aravena, Romy
    Publication type:
    Article
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    Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01463-3
    By:
    • Mattioli, Francesca;
    • Friðriksdóttir, Rún;
    • Hebert, Anne;
    • Bassani, Sissy;
    • Ibrahim, Nazia;
    • Naz, Shagufta;
    • Chrast, Jacqueline;
    • Pailler-Pradeau, Clara;
    • Oddsson, Ásmundur;
    • Sulem, Patrick;
    • Halldorsson, Gisli H.;
    • Melsted, Páll;
    • Guðbjartsson, Daníel F.;
    • Palombo, Flavia;
    • Pippucci, Tommaso;
    • Nouri, Nayereh;
    • Seri, Marco;
    • Farrow, Emily G.;
    • Saunders, Carol J.;
    • Guex, Nicolas
    Publication type:
    Article
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    Epigenetic timing effects on child developmental outcomes: a longitudinal meta-regression of findings from the Pregnancy And Childhood Epigenetics Consortium.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01451-7
    By:
    • Neumann, Alexander;
    • Sammallahti, Sara;
    • Cosin-Tomas, Marta;
    • Reese, Sarah E.;
    • Suderman, Matthew;
    • Alemany, Silvia;
    • Almqvist, Catarina;
    • Andrusaityte, Sandra;
    • Arshad, Syed H.;
    • Bakermans-Kranenburg, Marian J.;
    • Beilin, Lawrence;
    • Breton, Carrie;
    • Bustamante, Mariona;
    • Czamara, Darina;
    • Dabelea, Dana;
    • Eng, Celeste;
    • Eskenazi, Brenda;
    • Fuemmeler, Bernard F.;
    • Gilliland, Frank D.;
    • Grazuleviciene, Regina
    Publication type:
    Article
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    A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01462-4
    By:
    • Gonzalez Castro, L. Nicolas;
    • Gavish, Avishai;
    • Bussema, Lillian;
    • Mount, Christopher W.;
    • Neftel, Cyril;
    • Nomura, Masashi;
    • Chiocca, E. Antonio;
    • Bi, Wenya Linda;
    • Arnaout, Omar;
    • Barker II, Fred G.;
    • Brown, Justin M.;
    • Jordan, Justin T.;
    • Batchelor, Tracy T.;
    • Stemmer-Rachamimov, Anat;
    • Plotkin, Scott R.;
    • Tirosh, Itay;
    • Suvà, Mario L.
    Publication type:
    Article
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    Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01456-2
    By:
    • Georgakis, Marios K.;
    • Malik, Rainer;
    • Bounkari, Omar El;
    • Hasbani, Natalie R.;
    • Li, Jiang;
    • Huffman, Jennifer E.;
    • Shakt, Gabrielle;
    • Tack, Reinier W. P.;
    • Kimball, Tamara N.;
    • Asare, Yaw;
    • Morrison, Alanna C.;
    • Tsao, Noah L.;
    • Judy, Renae;
    • Mitchell, Braxton D.;
    • Xu, Huichun;
    • Montasser, May E.;
    • Do, Ron;
    • Kenny, Eimear E.;
    • Loos, Ruth J. F.;
    • Terry, James G.
    Publication type:
    Article
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