Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, and Genetics and Neurodevelopmental Disorders.
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
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
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Substitution mutational signatures in whole-genome–sequenced cancers in the UK population
Newborn Screening by Genomic Sequencing: Opportunities and Challenges
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease
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
The genetic architecture of the human cerebral cortex
Human and mouse essentiality screens as a resource for disease gene discovery
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
Genetic architecture of subcortical brain structures in 38,851 individuals
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Novel genetic loci associated with hippocampal volume
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency
Novel genetic loci underlying human intracranial volume identified through genome-wide association
Common genetic variants influence human subcortical brain structures
The genetic basis of DOORS syndrome: an exome-sequencing study
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Identification of common variants associated with human hippocampal and intracranial volumes