0000-0001-9340-8117 Employment
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Publications (176)
- The genomic landscape of syndromic and non-syndromic hearing loss within the 100,000 Genomes Project cohort Save
- Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension. Save
- Severe neural tube defects due to failure of closure initiation can arise without abnormality of neuroepithelial convergent extension Save
- Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype. Save
- Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. Save
- Diverse Species-Specific Phenotypic Consequences of Loss of Function Sorting Nexin 14 Mutations Save
- Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans. Save
- Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome? Save
- Inherited duplications of PPP2R3B promote naevi and melanoma via a novel C21orf91-driven proliferative phenotype Save
- Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages Save