Area of research
Physiology · Genetics
Research interest
Research interests include Medicine, Biology, Neuroscience, Psychology, Hypotonia, and Virology.
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Building Consensus around the Assessment and Interpretation of Symbiodiniaceae Diversity
POLRMT mutations impair mitochondrial transcription causing neurological disease
DLG4-related synaptopathy: a new rare brain disorder
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations