Area of research
Genetics · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Neurogenetic and Muscular Disorders Research, Cardiomyopathy and Myosin Studies, Genomics and Rare Diseases, and Genetics and Neurodevelopmental Disorders.
Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency
Epilepsy as a Novel Phenotype of BPTF-Related Disorders
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Phenotypic expansion of the <scp><i>BPTF</i></scp>‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies