Area of research
Genetics · Molecular Biology
Research interest
Research interests include Medicine, Biology, Genetics, Computational biology, Phenotype, and Exome sequencing.
A novel spliceosomopathy caused by de novo SF3B3 variants
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
The clinical and genetic spectrum of autosomal-recessive <i>TOR1A</i>-related disorders
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Recommendations for the integration of genomics into clinical practice