Suchergebnisse - "Burren, Oliver S."

PubPharm (37)

1

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

enthalten in: Blood | 2023

von Stefanucci, L. | Collins, J. | Sims, M. | +32

CommentIn: Blood. 2023 Dec 14;142(24):2037-2038. - PMID 38095926

2

Rare variant associations with plasma protein levels in the UK Biobank

enthalten in: Nature | 2023

von Dhindsa, R. | Burren, O. | Sun, B. | +98

3

Plasma proteomic associations with genetics and health in the UK Biobank

enthalten in: Nature | 2023

von Sun, B. | Chiou, J. | Traylor, M. | +62

4

Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor

enthalten in: The Journal of allergy and clinical immunology | 2023

von Lawless, D. | Allen, H. | Thaventhiran, J. | +7

5

A minimal role for synonymous variation in human disease

enthalten in: American journal of human genetics | 2022

von Dhindsa, R. | Wang, Q. | Vitsios, D. | +7

6

Prioritisation of Candidate Genes Underpinning COVID-19 Host Genetic Traits Based on High-Resolution 3D Chromosomal Topology

enthalten in: Frontiers in genetics | 2021

von Thiecke, M. | Yang, E. | Burren, O. | +2

7

Genetic feature engineering enables characterisation of shared risk factors in immune-mediated diseases

enthalten in: Genome medicine | 2020

von Burren, O. | Reales, G. | Wong, L. | +8

8

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

enthalten in: The Journal of allergy and clinical immunology | 2020

von Lorenzini, T. | Fliegauf, M. | Klammer, N. | +173

ErratumIn: J Allergy Clin Immunol. 2021 Nov;148(5):1345. - PMID 34743834

9

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

enthalten in: Nature | 2020

von Thaventhiran, J. | Lango Allen, H. | Burren, O. | +157

ErratumIn: Nature. 2020 Aug;584(7819):E2. - PMID 32678341

10

Whole-genome sequencing of patients with rare diseases in a national health system

enthalten in: Nature | 2020

von Turro, E. | Astle, W. | Megy, K. | +160