Loukas Moutsianas

University of Leeds — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

51h-index23.6kcitations151works12.42yr avg
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Research Topics

Genetic Associations and Epidemiology(24), Genomics and Rare Diseases(24), Cancer Genomics and Diagnostics(15), Inflammatory Bowel Disease(12), Genomic variations and chromosomal abnormalities(10)

Publications134 total

Common and rare variant analyses reveal genetic factors underlying idiopathic pulmonary fibrosis and its shared aetiology with severe COVID-19
EBioMedicine·2025Open Access
Whole genome sequence meta-analyses reveal common and rare genetic associations with critical COVID-19
2025Open Access
Equity in cancer genomics in the UK: a cross-sectional analysis of a national cancer cohort
The Lancet Oncology·2025· 2 citedOpen Access
Artificial intelligence for modelling infectious disease epidemics
Nature·2025· 91 citedOpen Access
The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas
Gastric Cancer·2025· 3 citedOpen Access
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease
Journal of Nephrology·2025Open Access
Disparities in cancer genomics by ancestry in the 100,000 Genomes Project
2024Open Access
Fine-mapping and molecular characterisation of primary sclerosing cholangitis genetic risk loci
Nature Communications·2024· 3 citedOpen Access
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice
Journal of Clinical Oncology·2024· 9 citedOpen Access
Increased frequency of repeat expansion mutations across different populations
Nature Medicine·2024· 54 citedOpen Access
G008 Population analysis of repeat expansions indicates increased frequency of pathogenic alleles across different populations
2024· 1 citedOpen Access
Common and rare variant analyses reveal novel genetic factors underlying Idiopathic Pulmonary Fibrosis and shared aetiology with COVID-19
2024Open Access
Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project
2024· 6 citedOpen Access
A Genomics England haplotype reference panel and imputation of UK Biobank
Nature Genetics·2024· 19 citedOpen Access
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine·2024· 4 citedOpen Access
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Gastroenterology·2023· 6 citedOpen Access
A Genomics England haplotype reference panel and the imputation of the UK Biobank
2023· 3 citedOpen Access
A Genomics England haplotype reference panel and the imputation of the UK Biobank
2023· 2 citedOpen Access
A novel likely pathogenic CLCN5 variant in Dent’s disease
BMC Nephrology·2023· 3 citedOpen Access
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Kidney International·2023· 33 citedOpen Access
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Frequent Co-authors

Mark J. Caulfield(23), Richard H. Scott(23), D. Perez-Gil(22), Marta Bleda(21), Melis Kayikci(21), Nirupa Murugaesu(21), Christine Patch(21), J. Pullinger(21), T. Rahim(21), Arianna Tucci(21), Anna C. Need(21), Angela Hamblin(20), Tim Hubbard(20), F. Maleady-Crowe(20), A. Sieghart(20), Alona Sosinsky(20), F. Boardman-Pretty(19), S. E. A. Leigh(19), Augusto Rendon(19), K. Savage(19)