A. Mackay

发表

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participants

Sri V. V. Deevi, Katherine R. Smith, R. Dhindsa, 2020, bioRxiv.

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Sri V. V. Deevi, Katherine R. Smith, B. Linghu, 2021, Nature.

Dysregulation of COVID-19 related gene expression in the COPD lung

R. Chaerkady, D. Muthas, A. Bornot, 2021, Respiratory Research.

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Matthew S. Lebo, Beryl B. Cummings, John D. Eicher, 2021, Nature Network Boston.

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Sri V. V. Deevi, L. Wain, R. Allen, 2021, Communications biology.

Identification of a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Sri V. V. Deevi, L. Wain, R. Allen, 2020, bioRxiv.

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

Beryl B. Cummings, John D. Eicher, Jonathan H. Chung, 2022, Communications Biology.

Genome-wide association study of behavioural and psychiatric features in human prion disease

S. Mead, J. Collinge, J. Lowe, 2015, Translational Psychiatry.

A broad exome study of the genetic architecture of asthma reveals novel patient subgroups

Sri V. V. Deevi, M. Gavala, D. Muthas, 2020, bioRxiv.

PRION-1 scales analysis supports use of functional outcome measures in prion disease

S. Mead, J. Collinge, P. Rudge, 2011, Neurology.

Multiomics links global surfactant dysregulation with airflow obstruction and emphysema in COPD

Ashley I Heinson, R. Chaerkady, D. Muthas, 2022, ERJ Open Research.

Genome-wide association study of behavioural and psychiatric features in human prion disease

J. Collinge, P. Rudge, S. Mead, 2015, Translational Psychiatry.