Items where Division is "Current Faculties > Faculty of Medicine > Human Development and Health > Human Genetics and Genomic Medicine
Human Development and Health > Human Genetics and Genomic Medicine" and Year is 2025
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Number of items: 29.
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2025 European LeukemiaNet recommendations for the management of chronic myeloid leukemia - Jane F. Apperley, Dragana Milojkovic and Nicholas C.P. Cross
Type: Review
| 2025
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Genetic determinants of the complement and coagulation pathways in invasive meningococcal disease - Evangelos Bellos, Karin van Leeuwen and Amedine Duret
Type: Article
| 2025
Defining the blood cytokine profile in asthma to understand asthma Heterogeneity - Karina Bingham, Yousef Al Zahrani and Iain Stewart
Type: Article
| 2025
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The JAK2 46/1 haplotype influences PD-L1 expression - Gonzalo Carreño-Tarragona, María Tiana, Raquel Rouco, Alejandra Leivas, Jesús Victorino, Roberto García-Vicente, Andrew J. Chase, Andrea Maidana, William J. Tapper, Rosa Ayala, Nicholas C.P. Cross, Joaquin Martínez-López and Miguel Manzanares
Type: Article
| 2025
Exploring geographic differences in IgE response through network and manifold analyses - John Holloway
Type: Article
| 2025
| Item not available on this server.
Type: Article
| 2025
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The mutation burden of narrowband ultraviolet B phototherapy (NB-UVB) in human skin; relevance to NB-UVB lifetime exposures and skin cancer surveillance - Joanne C. Fowler, Roshan K. Sood, George Coltart, Chester Lai, Noeline Nadarajah, John W. Holloway, Matthew J.J. Rose-Zerilli, Brian Diffey, Philip H. Jones and Eugene Healy
Type: Article
| 2025
Advancing pediatric and longitudinal DNA methylation studies with CellsPickMe, an integrated blood cell deconvolution method - Maggie P. Fu, Karlie Edwards, Erick I. Navarro-Delgado, Sarah M. Merrill, Negusse T. Kitaba, Chaini Konwar, Piush Mandhane, Elinor Simons, Padmaja Subbarao, Theo J. Moraes, John W. Holloway, Stuart E. Turvey and Michael S. Kobor
Type: UNSPECIFIED
| 2025
| bioRxiv
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Adolescent IBD: recent data and practical management - Zachary Green, James Ashton and Robert Mark Beattie
Type: Review
| 2025
Histological section suggestive of oviposition in a gravid threadworm obtained during diagnostic colonoscopy - Zachary Green, James Ashton, Bhumita Vagdama and R. Mark Beattie
Type: Article
| 2025
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Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer - Reiner Hoppe, Stefan Winter and Wing-Yee Lo
Type: Article
| 2025
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Bibliometric analysis: Insights into the podiatric medicine landscape of diabetic sensory peripheral neuropathy and genomics - Benjamin Jones, Reuben Pengelly, Alan Borthwick and Catherine Bowen
Type: Article
| 2025
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Application of generative artificial intelligence to utilise unstructured clinical data for acceleration of inflammatory bowel disease research - Alex Z. Kadhim, Zachary Green, Iman Nazari, Jonathan Baker, Michael George, Ashley Heinson, Matt Stammers, Christopher M. Kipps, R. Mark Beattie, James J. Ashton and Sarah Ennis
Type: UNSPECIFIED
| 2025
| medRxiv
| Item availability restricted.
Type: Dataset
| 2025
| University of Southampton
Father’s adolescent body silhouette is associated with offspring asthma, lung function and BMI through DNA methylation - Negusse Tadesse Kitaba, Toril Mørkve Østergaard, Marianne Lønnebotn, Simone Accordini, Francisco Gómez Real, Andrei Malinovschi, Anna Oudin, Bryndis Benediktsdottir, Francisco Javier Callejas González, Leopoldo Palacios Gómez, Mathias Holm, Nils Oskar Jõgi, Shyamali C. Dharmage, Svein Magne Skulstad, Vivi Schlünssen, Cecilie Svanes and John W. Holloway
Type: Article
| 2025
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Paternal prepubertal passive smoke exposure is related to impaired lung function trajectories from childhood to middle age in their offspring - Jiacheng Liu, Jennifer L. Perret, Caroline J. Lodge, Don Vicendese, Gayan Bowatte, Adrian J. Lowe, Nur Sabrina Idrose, Peter Frith, Richard Wood-Baker, Gita D. Mishra, John W. Holloway, Cecilie Svanes, Michael J. Abramson, Eugene Haydn Walters, Shyamali C. Dharmage and Dinh S. Bui
Type: Article
| 2025
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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease - Alexandra C . Martin-Geary, Alexander J.M. Blakes and Ruebena Dawes
Type: Article
| 2025
Whole RNA-seq analysis reveals longitudinal proteostasis network responses to photoreceptor outer segment trafficking and degradation in RPE cells - Rebecca D. Miller, Isaac Mondon, Charles Ellis, Anna Marie Muir, Stephanie Turner, Eloise Keeling, Htoo A. Wai, David S. Chatelet, David A. Johnson, David A. Tumbarello, Andrew J. Lotery, Diana Baralle and J. Arjuna Ratnayaka
Type: Article
| 2025
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Type: Review
| 2025
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Unravelling γδ T-cell dysregulation in the gut and its implications for immune-mediated diseases - Dilys Santillo, Evangelos Bellos and Vanessa Sancho-Shimizu
Type: Article
| 2025
Identification of genetic biomarkers of blood cholesterol levels using whole gene pathogenicity modelling - Sharon Sunny, Guo Cheng, Joshua Haria, Iman Nazari, Jagmohan Chauhan and Sarah Ennis
Type: Article
| 2025
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Genome-wide analysis defines genetic determinants of MPN subtypes and identifies a sex-specific association at CDH22/CD40 - William J. Tapper, Ahmed A.Z. Dawoud and Joannah Score
Type: Article
| 2025
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A systematic analysis of contemporary whole exome sequencing capture kits to optimise high-coverage capture of CCDS regions - Fernando Vazquez Lopez, James J. Ashton, Guo Cheng and Sarah Ennis
Type: Article
| 2025
Utility of polygenic risk scores (PRS) in predicting pancreatic cancer: a systematic review and meta-analysis of common variant and mixed scores with insights into rare variant analysis - Georgios Ioannis Verras, Zaed Z. Hamady, Andrew Collins and William Tapper
Type: Review
| 2025
Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5 -/- cell model of retinitis pigmentosa - Suly Saray Villa Vasquez, Liliya A Nazlamova, Reuben Pengelly, David I. Wilson, Diana Baralle and Gabrielle Wheway
Type: Article
| 2025
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome - Amber S.E. van Oirsouw, Michael A Hadders and Martijn Koetsier
Type: Article
| 2025
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Transcriptional regulation of genes by MYCN in PAX3::FOXO1 -positive rhabdomyosarcomas and their roles in cell cycle progression - Zoe S. Walters, Daniel Leongamornlert, Barbara Villarejo-Balcells, Carmen Tse, Reuben Pengelly, Ian Titley and Janet Shipley
Type: Article
| 2025
Type: Dataset
| 2025
| University of Southampton
Type: Monograph
| 2025
| University of Southampton