Andrew David Mumford

The paper develops a method to produce and activate purified snake venom metalloproteinases (SVMPs) using recombinant zymogens, enabling detailed biochemical and functional analysis.

The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.

This study identifies somatic mutations and mutational signatures associated with cancer-associated venous thromboembolism in a large cohort.

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

GROFFFY filters whole genome sequence data to identify non-coding and polyadenylation site variants, improving detection of disease-causing variants in unsolved cases.

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

This study uses a computational framework to analyze genetic data from 77,539 genomes, identifying 21 novel genetic associations with 269 rare diseases.

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

The paper reports a diagnostic HTS test for bleeding, thrombotic, and platelet disorders, identifying molecular diagnoses in 897 out of 2,390 patients.

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.