Area of research
Genetics · Ecology
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, and Connective tissue disorders research.
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea
The contribution of X-linked coding variation to severe developmental disorders
Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Quantifying the contribution of recessive coding variation to developmental disorders
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients