NIHR BioResource

Recent papers from NIHR BioResource

1. Array genotyping of transfusion-relevant blood cell antigens in 6946 ancestrally diverse study participantsBlood · 2025
2. Metabolic Signalling Peptides and Their Relation to Clinical and Demographic Characteristics in Acute and Recovered Females with Anorexia NervosaNutrients · 2025
3. The common VTE-protective G haplotype of F5 increases factor V-short, TFPI function, and risk of bleedingBlood Advances · 2024
4. Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertensionNature Communications · 2024
5. Biologic Therapy for Inflammatory Bowel Disease: Real-World Comparative Effectiveness and Impact of Drug Sequencing in 13 222 Patients within the UK IBD BioResourceJournal of Crohn s and Colitis · 2023
6. Factors Associated with Family Planning Status and Voluntary Childlessness in Women of Childbearing Age with Inflammatory Bowel DiseasesJournal of Clinical Medicine · 2023
7. Risk Factors for Longer-Term Mortality in Discharged Patients with Dementia and SARS-CoV-2 Infection: A Matched Case-Control StudyJournal of Alzheimer s Disease · 2023
8. Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic originJCPP Advances · 2023
9. Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditionsTranslational Psychiatry · 2023
10. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort studyThe Lancet Psychiatry · 2022
11. SARS-CoV-2 spike N-terminal domain modulates TMPRSS2-dependent viral entry and fusogenicityCell Reports · 2022
12. SARS-CoV-2 Spike N-Terminal Domain modulates TMPRSS2-dependent viral entry and fusogenicity2022
13. Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhoodHuman Genetics and Genomics Advances · 2022
14. First genotype-phenotype study in TBX4 syndrome: gain-of-function mutations causative for lung disease2022
15. Different Cytokine Patterns in BMPR2-Mutation-Positive Patients and Patients With Pulmonary Arterial Hypertension Without Mutations and Their Influence on SurvivalCHEST Journal · 2022
16. Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortalityJournal of Medical Genetics · 2021
17. SARS-CoV-2 B.1.617.2 Delta variant replication and immune evasionNature · 2021
18. Age-related immune response heterogeneity to SARS-CoV-2 vaccine BNT162b2Nature · 2021
19. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAHGenome Medicine · 2021
20. SARS-CoV-2 B.1.617.2 Delta variant replication, sensitivity to neutralising antibodies and vaccine breakthrough2021