Publication & Citation Trends
Publications
0 total
Childhood-Onset Psychosis: A large UK case series.
Cited by 0
Semantic Scholar
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease OA
Cited by 0
Semantic Scholar
ImmuneLENS characterizes systemic immune dysregulation in aging and cancer OA
Cited by 5
Semantic Scholar
The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas
Cited by 3
Semantic Scholar
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy OA
Cited by 1
Semantic Scholar
A Genomics England haplotype reference panel and imputation of UK Biobank OA
Cited by 17
Semantic Scholar
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project OA
Cited by 2
Semantic Scholar
Origins and impact of extrachromosomal DNA
Cited by 105
Semantic Scholar
A novel likely pathogenic CLCN5 variant in Dent’s disease OA
Cited by 4
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(41)
Genetic Associations and Epidemiology
(36)
Genetics and Neurodevelopmental Disorders
(33)
Genomic variations and chromosomal abnormalities
(30)
Cancer Genomics and Diagnostics
(12)
Affiliations
National Institutes of Health
North Bristol NHS Trust
Beth Israel Deaconess Medical Center
University Health Network
Queen Mary University of London