Area of research
Molecular Biology · Genetics
Research interest
Research interests include Epigenetics and DNA Methylation, Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, and Ion channel regulation and function.
DNA methylation signatures of Alzheimer’s disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types
Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease
MNS1 variant associated with situs inversus and male infertility
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice
A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome
Loss of PCLO function underlies pontocerebellar hypoplasia type III
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of<i>WDR73</i>
Hypomorphic PCNA mutation underlies a human DNA repair disorder
Deficiency of terminal ADP‐ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
SLITRK6 mutations cause myopia and deafness in humans and mice
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
Mutation of HERC2 causes developmental delay with Angelman-like features