Works matching IS 1756994X AND DT 2024 AND VI 16

Results: 155

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01423-3
By:
- Drackley, A.;
- Somerville, C.;
- Arnaud, P.;
- Baudhuin, L. M.;
- Hanna, N.;
- Kluge, M. L.;
- Kotzer, K.;
- Boileau, C.;
- Bronicki, L.;
- Callewaert, B.;
- Cecchi, A.;
- Dietz, H.;
- Guo, D.;
- Harris, S.;
- Jarinova, O.;
- Lindsay, M.;
- Little, L.;
- Loeys, B.;
- MacCarrick, G.;
- Meester, J.
Publication type:
Article
The role of gut microbiota in the pathogenesis of diverticular disease: where are we now?
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01426-0
By:
- Tursi, Antonio;
- Papa, Alfredo
Publication type:
Article
A tool for CRISPR-Cas9 sgRNA evaluation based on computational models of gene expression.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01420-6
By:
- Cohen, Shai;
- Bergman, Shaked;
- Lynn, Nicolas;
- Tuller, Tamir
Publication type:
Article
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01424-2
By:
- Nguyen, Minh Ngoc;
- Gladstone, Beryl Primrose;
- De Angelis, Giulia;
- Biggel, Michael;
- Xavier, Basil Britto;
- Lammens, Christine;
- Lin, Qiang;
- Van Puyvelde, Sandra;
- Goossens, Herman;
- Kumar-Singh, Samir;
- Glupczynski, Youri;
- Carmeli, Yehuda;
- Tacconelli, Evelina;
- Malhotra-Kumar, Surbhi;
- Harbarth, Stephan;
- Schrenzel, Jacques;
- Restuccia, Giovanni;
- Venturiello, Silvia;
- Cauda, Roberto;
- Percia, Shimrit
Publication type:
Article
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01421-5
By:
- Hart, Reece K.;
- Fokkema, Ivo F. A. C.;
- DiStefano, Marina;
- Hastings, Ros;
- Laros, Jeroen F. J.;
- Taylor, Rachel;
- Wagner, Alex H.;
- den Dunnen, Johan T.
Publication type:
Article
SARS-CoV-2 introductions to the island of Ireland: a phylogenetic and geospatiotemporal study of infection dynamics.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01409-1
By:
- Rice, Alan M.;
- Troendle, Evan P.;
- Bridgett, Stephen J.;
- Firoozi Nejad, Behnam;
- McKinley, Jennifer M.;
- Bradley, Declan T.;
- Fairley, Derek J.;
- Bamford, Connor G. G.;
- Skvortsov, Timofey;
- Simpson, David A.
Publication type:
Article
Spatial transcriptome profiling identifies DTX3L and BST2 as key biomarkers in esophageal squamous cell carcinoma tumorigenesis.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01422-4
By:
- Li, Rutao;
- Li, Na;
- Yang, Qianqian;
- Tong, Xing;
- Wang, Wei;
- Li, Chang;
- Zhao, Jun;
- Jiang, Dong;
- Huang, Haitao;
- Fang, Chen;
- Xie, Kai;
- Yuan, Jiamin;
- Chen, Shaomu;
- Li, Guangbin;
- Luo, Haitao;
- Gao, Zhibo;
- Wu, Dongfang;
- Cui, Xiaoli;
- Jiang, Wei;
- Guo, Lingchuan
Publication type:
Article
Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01417-1
By:
- Katrinli, Seyma;
- Wani, Agaz H.;
- Maihofer, Adam X.;
- Ratanatharathorn, Andrew;
- Daskalakis, Nikolaos P.;
- Montalvo-Ortiz, Janitza;
- Núñez-Ríos, Diana L.;
- Zannas, Anthony S.;
- Zhao, Xiang;
- Aiello, Allison E.;
- Ashley-Koch, Allison E.;
- Avetyan, Diana;
- Baker, Dewleen G.;
- Beckham, Jean C.;
- Boks, Marco P.;
- Brick, Leslie A.;
- Bromet, Evelyn;
- Champagne, Frances A.;
- Chen, Chia-Yen;
- Dalvie, Shareefa
Publication type:
Article
Patterns of genomic instability in > 2000 patients with ovarian cancer across six clinical trials evaluating olaparib.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01413-5
By:
- Barnicle, Alan;
- Ray-Coquard, Isabelle;
- Rouleau, Etienne;
- Cadoo, Karen;
- Simpkins, Fiona;
- Aghajanian, Carol;
- Leary, Alexandra;
- Poveda, Andrés;
- Lheureux, Stephanie;
- Pujade-Lauraine, Eric;
- You, Benoit;
- Ledermann, Jonathan;
- Matulonis, Ursula;
- Gourley, Charlie;
- Timms, Kirsten M.;
- Lai, Zhongwu;
- Hodgson, Darren R.;
- Elks, Cathy E.;
- Dearden, Simon;
- Egile, Coumaran
Publication type:
Article
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01411-7
By:
- Pehlivan, Davut;
- Bengtsson, Jesse D.;
- Bajikar, Sameer S.;
- Grochowski, Christopher M.;
- Lun, Ming Yin;
- Gandhi, Mira;
- Jolly, Angad;
- Trostle, Alexander J.;
- Harris, Holly K.;
- Suter, Bernhard;
- Aras, Sukru;
- Ramocki, Melissa B.;
- Du, Haowei;
- Mehaffey, Michele G.;
- Park, KyungHee;
- Wilkey, Ellen;
- Karakas, Cemal;
- Eisfeldt, Jesper J.;
- Pettersson, Maria;
- Liu, Lynn
Publication type:
Article
SiRCle (Signature Regulatory Clustering) model integration reveals mechanisms of phenotype regulation in renal cancer.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01415-3
By:
- Mora, Ariane;
- Schmidt, Christina;
- Balderson, Brad;
- Frezza, Christian;
- Bodén, Mikael
Publication type:
Article
Revisiting mutational resistance to ampicillin and cefotaxime in Haemophilus influenzae.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01406-4
By:
- Diricks, Margo;
- Petersen, Sabine;
- Bartels, Lennart;
- Lâm, Thiên-Trí;
- Claus, Heike;
- Bajanca-Lavado, Maria Paula;
- Hauswaldt, Susanne;
- Stolze, Ricardo;
- Vázquez, Omar Jiménez;
- Utpatel, Christian;
- Niemann, Stefan;
- Rupp, Jan;
- Wohlers, Inken;
- Merker, Matthias
Publication type:
Article
Correction: Applicability of epigenetic age models to next-generation methylation arrays.
Published in:
2024
By:
- Garma, Leonardo D.;
- Quintela-Fandino, Miguel
Publication type:
Correction Notice
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01392-7
By:
- Dawood, Moez;
- Fayer, Shawn;
- Pendyala, Sriram;
- Post, Mason;
- Kalra, Divya;
- Patterson, Karynne;
- Venner, Eric;
- Muffley, Lara A.;
- Fowler, Douglas M.;
- Rubin, Alan F.;
- Posey, Jennifer E.;
- Plon, Sharon E.;
- Lupski, James R.;
- Gibbs, Richard A.;
- Starita, Lea M.;
- Robles-Espinoza, Carla Daniela;
- Coyote-Maestas, Willow;
- Gallego Romero, Irene
Publication type:
Article
Applicability of epigenetic age models to next-generation methylation arrays.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01387-4
By:
- Garma, Leonardo D.;
- Quintela-Fandino, Miguel
Publication type:
Article
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01416-2
By:
- Liu, Po-Yu;
- Wu, Han-Chieh;
- Li, Ying-Lan;
- Cheng, Hung-Wei;
- Liou, Ci-Hong;
- Chen, Feng-Jui;
- Liao, Yu-Chieh
Publication type:
Article
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01414-4
By:
- Lam, Simon;
- Thomas, John C.;
- Jackson, Stephen P.
Publication type:
Article
Integrated analyses of multi-omic data derived from paired primary lung cancer and brain metastasis reveal the metabolic vulnerability as a novel therapeutic target.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01410-8
By:
- Duan, Hao;
- Ren, Jianlan;
- Wei, Shiyou;
- Yang, Zhenyu;
- Li, Chuan;
- Wang, Zhenning;
- Li, Meichen;
- Wei, Zhi;
- Liu, Yu;
- Wang, Xiuqi;
- Lan, Hongbin;
- Zeng, Zhen;
- Xie, Maodi;
- Xie, Yuan;
- Wu, Suwen;
- Hu, Wanming;
- Guo, Chengcheng;
- Zhang, Xiangheng;
- Liang, Lun;
- Yu, Chengwei
Publication type:
Article
Neoantigen DNA vaccines are safe, feasible, and induce neoantigen-specific immune responses in triple-negative breast cancer patients.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01388-3
By:
- Zhang, Xiuli;
- Goedegebuure, S. Peter;
- Chen, Michael Y.;
- Mishra, Rashmi;
- Zhang, Felicia;
- Yu, Yik Yeung;
- Singhal, Kartik;
- Li, Lijin;
- Gao, Feng;
- Myers, Nancy B.;
- Vickery, Tammi;
- Hundal, Jasreet;
- McLellan, Michael D.;
- Sturmoski, Mark A.;
- Kim, Samuel W.;
- Chen, Ina;
- Davidson 4th, Jesse T.;
- Sankpal, Narendra V.;
- Myles, Stephanie;
- Suresh, Rama
Publication type:
Article
Epigenetic age and long-term cancer risk following a stroke.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01408-2
By:
- Suárez-Pérez, Antoni;
- Macias-Gómez, Adrià;
- Fernández-Pérez, Isabel;
- Vallverdú-Prats, Marta;
- Cuadrado-Godia, Elisa;
- Giralt-Steinhauer, Eva;
- Campanale, Maia;
- Guisado-Alonso, Daniel;
- Rodríguez-Campello, Ana;
- Jiménez-Balado, Joan;
- Jiménez-Conde, Jordi;
- Ois, Angel
Publication type:
Article
Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01401-9
By:
- Takemon, Yuka;
- Pleasance, Erin D.;
- Gagliardi, Alessia;
- Hughes, Christopher S.;
- Csizmok, Veronika;
- Wee, Kathleen;
- Trinh, Diane L.;
- Huff, Ryan D.;
- Mungall, Andrew J.;
- Moore, Richard A.;
- Chuah, Eric;
- Mungall, Karen L.;
- Lewis, Eleanor;
- Nelson, Jessica;
- Lim, Howard J.;
- Renouf, Daniel J.;
- Jones, Steven JM.;
- Laskin, Janessa;
- Marra, Marco A.
Publication type:
Article
Integrated single-cell analysis reveals distinct epigenetic-regulated cancer cell states and a heterogeneity-guided core signature in tamoxifen-resistant breast cancer.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01407-3
By:
- Fang, Kun;
- Ohihoin, Aigbe G.;
- Liu, Tianxiang;
- Choppavarapu, Lavanya;
- Nosirov, Bakhtiyor;
- Wang, Qianben;
- Yu, Xue-Zhong;
- Kamaraju, Sailaja;
- Leone, Gustavo;
- Jin, Victor X.
Publication type:
Article
Efficacy and safety of novel multiple-chain DAP-CAR-T cells targeting mesothelin in ovarian cancer and mesothelioma: a single-arm, open-label and first-in-human study.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01405-5
By:
- Xu, Tongpeng;
- Tian, Tian;
- Wang, Chen;
- Chen, Xiaofeng;
- Zuo, Xiangrong;
- Zhou, Hanyu;
- Bai, Jianan;
- Zhao, Chenhui;
- Fu, Sujie;
- Sun, Chongqi;
- Wang, Ting;
- Zhu, Ling;
- Zhang, Jingzhi;
- Wang, Enxiu;
- Sun, Ming;
- Shu, Yongqian
Publication type:
Article
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01412-6
By:
- Landman, Fabian;
- Jamin, Casper;
- de Haan, Angela;
- Witteveen, Sandra;
- Bos, Jeroen;
- van der Heide, Han G. J.;
- Schouls, Leo M.;
- Hendrickx, Antoni P. A.;
- Dutch CPE/MRSA surveillance study group;
- van Arkel, A. L. E.;
- Leversteijn-van Hall, M. A.;
- den Bijllaardt, W. van den;
- van Mansfeld, R.;
- van Dijk, K.;
- Zwart, B.;
- Diederen, B. M. W.;
- Berkhout, H.;
- Notermans, D. W.;
- Ott, A.;
- Waar, K.
Publication type:
Article
pVACview: an interactive visualization tool for efficient neoantigen prioritization and selection.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01384-7
By:
- Xia, Huiming;
- Hoang, My H.;
- Schmidt, Evelyn;
- Kiwala, Susanna;
- McMichael, Joshua;
- Skidmore, Zachary L.;
- Fisk, Bryan;
- Song, Jonathan J.;
- Hundal, Jasreet;
- Mooney, Thomas;
- Walker, Jason R.;
- Goedegebuure, S. Peter;
- Miller, Christopher A.;
- Gillanders, William E.;
- Griffith, Obi L.;
- Griffith, Malachi
Publication type:
Article
Identification of pathological pathways centered on circRNA dysregulation in association with irreversible progression of Alzheimer's disease.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01404-6
By:
- Wang, Feng;
- Li, Yangping;
- Shen, Huifeng;
- Martinez-Feduchi, Paula;
- Ji, Xingyu;
- Teng, Peng;
- Krishnakumar, Siddharth;
- Hu, Jian;
- Chen, Li;
- Feng, Yue;
- Yao, Bing
Publication type:
Article
KleTy: integrated typing scheme for core genome and plasmids reveals repeated emergence of multi-drug resistant epidemic lineages in Klebsiella worldwide.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01399-0
By:
- Li, Heng;
- Liu, Xiao;
- Li, Shengkai;
- Rong, Jie;
- Xie, Shichang;
- Gao, Yuan;
- Zhong, Ling;
- Jiang, Quangui;
- Jiang, Guilai;
- Ren, Yi;
- Sun, Wanping;
- Hong, Yuzhi;
- Zhou, Zhemin
Publication type:
Article
Identification of pathological pathways centered on circRNA dysregulation in association with irreversible progression of Alzheimer's disease.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01404-6
By:
- Wang, Feng;
- Li, Yangping;
- Shen, Huifeng;
- Martinez-Feduchi, Paula;
- Ji, Xingyu;
- Teng, Peng;
- Krishnakumar, Siddharth;
- Hu, Jian;
- Chen, Li;
- Feng, Yue;
- Yao, Bing
Publication type:
Article
KleTy: integrated typing scheme for core genome and plasmids reveals repeated emergence of multi-drug resistant epidemic lineages in Klebsiella worldwide.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01399-0
By:
- Li, Heng;
- Liu, Xiao;
- Li, Shengkai;
- Rong, Jie;
- Xie, Shichang;
- Gao, Yuan;
- Zhong, Ling;
- Jiang, Quangui;
- Jiang, Guilai;
- Ren, Yi;
- Sun, Wanping;
- Hong, Yuzhi;
- Zhou, Zhemin
Publication type:
Article
Exploring multi-omics and clinical characteristics linked to accelerated biological aging in Asian women of reproductive age: insights from the S-PRESTO study.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01403-7
By:
- Chen, Li;
- Tan, Karen Mei-Ling;
- Xu, Jia;
- Mishra, Priti;
- Mir, Sartaj Ahmad;
- Gong, Min;
- Narasimhan, Kothandaraman;
- Ng, Bryan;
- Lai, Jun Shi;
- Tint, Mya Thway;
- Cai, Shirong;
- Sadananthan, Suresh Anand;
- Michael, Navin;
- Yaligar, Jadegoud;
- Velan, Sambasivam Sendhil;
- Leow, Melvin Khee Shing;
- Tan, Kok Hian;
- Chan, Jerry;
- Meaney, Michael J.;
- Chan, Shiao-Yng
Publication type:
Article
Curating genomic disease-gene relationships with Gene2Phenotype (G2P).
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01398-1
By:
- Yates, T. Michael;
- Ansari, Morad;
- Thompson, Louise;
- Hunt, Sarah E.;
- Uhalte, Elena Cibrian;
- Hobson, Rachel J.;
- Marsh, Joseph A.;
- Wright, Caroline F.;
- Firth, Helen V.
Publication type:
Article
Circular RNA landscape in extracellular vesicles from human biofluids.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01400-w
By:
- Zhao, Jingjing;
- Li, Qiaojuan;
- Hu, Jia;
- Yu, Hongwu;
- Shen, Youmin;
- Lai, Hongyan;
- Li, Qin;
- Zhang, Hena;
- Li, Yan;
- Fang, Zhuting;
- Huang, Shenglin
Publication type:
Article
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01390-9
By:
- Josephs, Katherine S.;
- Seaby, Eleanor G.;
- May, Philippa;
- Theotokis, Pantazis;
- Yu, Jing;
- Andreou, Avgi;
- Sinclair, Hannah;
- Morris-Rosendahl, Deborah;
- Thomas, Ellen R. A.;
- Ennis, Sarah;
- Roberts, Angharad M.;
- Ware, James S.
Publication type:
Article
Developmental-status-aware transcriptional decomposition establishes a cell state panorama of human cancers.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01393-6
By:
- Luo, Yikai;
- Liang, Han
Publication type:
Article
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01396-3
By:
- Eldholm, Vegard;
- Osnes, Magnus N.;
- Bjørnstad, Martha L.;
- Straume, Daniel;
- Gladstone, Rebecca A.
Publication type:
Article
Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01397-2
By:
- Carreras-Torres, Robert;
- Galván-Femenía, Iván;
- Farré, Xavier;
- Cortés, Beatriz;
- Díez-Obrero, Virginia;
- Carreras, Anna;
- Moratalla-Navarro, Ferran;
- Iraola-Guzmán, Susana;
- Blay, Natalia;
- Obón-Santacana, Mireia;
- Moreno, Víctor;
- de Cid, Rafael
Publication type:
Article
Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01395-4
By:
- van Vugt, Marion;
- Finan, Chris;
- Chopade, Sandesh;
- Providencia, Rui;
- Bezzina, Connie R.;
- Asselbergs, Folkert W.;
- van Setten, Jessica;
- Schmidt, A. Floriaan
Publication type:
Article
Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01394-5
By:
- Lewis, Morag A.;
- Lachgar-Ruiz, Maria;
- Di Domenico, Francesca;
- Duddy, Graham;
- Chen, Jing;
- Fernandez, Sergio;
- Morin, Matias;
- Williams, Gareth;
- Moreno Pelayo, Miguel Angel;
- Steel, Karen P.
Publication type:
Article
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01383-8
By:
- Lesurf, Robert;
- Breckpot, Jeroen;
- Bouwmeester, Jade;
- Hanafi, Nour;
- Jain, Anjali;
- Liang, Yijing;
- Papaz, Tanya;
- Lougheed, Jane;
- Mondal, Tapas;
- Alsalehi, Mahmoud;
- Altamirano-Diaz, Luis;
- Oechslin, Erwin;
- Audain, Enrique;
- Dombrowsky, Gregor;
- Postma, Alex V.;
- Woudstra, Odilia I.;
- Bouma, Berto J.;
- Hitz, Marc-Phillip;
- Bezzina, Connie R.;
- Blue, Gillian M.
Publication type:
Article
DNA demethylation triggers cell free DNA release in colorectal cancer cells.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01386-5
By:
- Pessei, Valeria;
- Macagno, Marco;
- Mariella, Elisa;
- Congiusta, Noemi;
- Battaglieri, Vittorio;
- Battuello, Paolo;
- Viviani, Marco;
- Gionfriddo, Giulia;
- Lamba, Simona;
- Lorenzato, Annalisa;
- Oddo, Daniele;
- Idrees, Fariha;
- Cavaliere, Alessandro;
- Bartolini, Alice;
- Guarrera, Simonetta;
- Linnebacher, Michael;
- Monteonofrio, Laura;
- Cardone, Luca;
- Milella, Michele;
- Bertotti, Andrea
Publication type:
Article
Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01391-8
By:
- Amstler, Stephan;
- Streiter, Gertraud;
- Pfurtscheller, Cathrin;
- Forer, Lukas;
- Di Maio, Silvia;
- Weissensteiner, Hansi;
- Paulweber, Bernhard;
- Schönherr, Sebastian;
- Kronenberg, Florian;
- Coassin, Stefan
Publication type:
Article
High density genomic surveillance and risk profiling of clinical Listeria monocytogenes subtypes in Germany.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01389-2
By:
- Halbedel, Sven;
- Wamp, Sabrina;
- Lachmann, Raskit;
- Holzer, Alexandra;
- Pietzka, Ariane;
- Ruppitsch, Werner;
- Wilking, Hendrik;
- Flieger, Antje
Publication type:
Article
Applicability of epigenetic age models to next-generation methylation arrays.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01387-4
By:
- Garma, Leonardo D.;
- Quintela-Fandino, Miguel
Publication type:
Article
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01385-6
By:
- Kim, Soo-Whee;
- Lee, Hyeji;
- Song, Da Yea;
- Lee, Gang-Hee;
- Ji, Jungeun;
- Park, Jung Woo;
- Han, Jae Hyun;
- Lee, Jee Won;
- Byun, Hee Jung;
- Son, Ji Hyun;
- Kim, Ye Rim;
- Lee, Yoojeong;
- Kim, Jaewon;
- Jung, Ashish;
- Lee, Junehawk;
- Kim, Eunha;
- Kim, So Hyun;
- Lee, Jeong Ho;
- Satterstrom, F. Kyle;
- Girirajan, Santhosh
Publication type:
Article
Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01382-9
By:
- Xiao, Bing;
- Luo, Xiaomei;
- Liu, Yi;
- Ye, Hui;
- Liu, Huili;
- Fan, Yanjie;
- Yu, Yongguo
Publication type:
Article
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01378-5
By:
- Daly, Adrian F.;
- Dunnington, Leslie A.;
- Rodriguez-Buritica, David F.;
- Spiegel, Erica;
- Brancati, Francesco;
- Mantovani, Giovanna;
- Rawal, Vandana M.;
- Faucz, Fabio Rueda;
- Hijazi, Hadia;
- Caberg, Jean-Hubert;
- Nardone, Anna Maria;
- Bengala, Mario;
- Fortugno, Paola;
- Del Sindaco, Giulia;
- Ragonese, Marta;
- Gould, Helen;
- Cannavò, Salvatore;
- Pétrossians, Patrick;
- Lania, Andrea;
- Lupski, James R.
Publication type:
Article
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01381-w
By:
- Jaramillo Oquendo, Carolina;
- Wai, Htoo A.;
- Rich, Wil I.;
- Bunyan, David J.;
- Thomas, N. Simon;
- Hunt, David;
- Lord, Jenny;
- Douglas, Andrew G. L.;
- Baralle, Diana
Publication type:
Article
Evaluating metagenomics and targeted approaches for diagnosis and surveillance of viruses.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01380-x
By:
- Buddle, Sarah;
- Forrest, Leysa;
- Akinsuyi, Naomi;
- Martin Bernal, Luz Marina;
- Brooks, Tony;
- Venturini, Cristina;
- Miller, Charles;
- Brown, Julianne R.;
- Storey, Nathaniel;
- Atkinson, Laura;
- Best, Timothy;
- Roy, Sunando;
- Goldsworthy, Sian;
- Castellano, Sergi;
- Simmonds, Peter;
- Harvala, Heli;
- Golubchik, Tanya;
- Williams, Rachel;
- Breuer, Judith;
- Morfopoulou, Sofia
Publication type:
Article
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01379-4
By:
- Ikhimiukor, Odion O.;
- Mingle, Lisa;
- Wirth, Samantha E.;
- Mendez-Vallellanes, Damaris V.;
- Hoyt, Hannah;
- Musser, Kimberlee A.;
- Wolfgang, William J.;
- Andam, Cheryl P.
Publication type:
Article
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01371-y
By:
- Zhu, Yingjie;
- Pei, Xin;
- Novaj, Ardijana;
- Setton, Jeremy;
- Bronder, Daniel;
- Derakhshan, Fatemeh;
- Selenica, Pier;
- McDermott, Niamh;
- Orman, Mehmet;
- Plum, Sarina;
- Subramanyan, Shyamal;
- Braverman, Sara H.;
- McMillan, Biko;
- Sinha, Sonali;
- Ma, Jennifer;
- Gazzo, Andrea;
- Khan, Atif;
- Bakhoum, Samuel;
- Powell, Simon N.;
- Reis-Filho, Jorge S.
Publication type:
Article