Area of research
Genetics · Cancer Research
Research interest
Research interests include Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Advanced Proteomics Techniques and Applications, and Genetic factors in colorectal cancer.
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Substitution mutational signatures in whole-genome–sequenced cancers in the UK population
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency
Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus
Collaborative Research: Computational modeling of the influence of wall quenching on emissions from partially cracked ammonia combustion
Conference: 2024 Princeton Summer School on Combustion and the Environment
Conference: 2023 Princeton Summer School on Combustion and the Environment
Conference: 2022 Princeton Summer School on Combustion and the Environment
Computational Modeling of the Soot Size Distribution in Turbulent Reacting Flows: Leveraging Data Science Tools to Rapidly Accelerate Physics-Based Model Development and Validation
A Unified Manifold-Based Approach to Modeling Turbulent Combustion
Student Travel Grant - 2016 Spring Technical Meeting of the Eastern States Section of the Combustion Institute
SBIR Phase I: Development of Wide Area Radiation Sources for Wastewater Treatment