Area of research
Genetics · Neurology
Research interest
Research interests include Ocular Disorders and Treatments, Congenital Ear and Nasal Anomalies, Neurofibromatosis and Schwannoma Cases, and Intraocular Surgery and Lenses.
Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies.
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
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‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in 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
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial disease
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