Area of research
Molecular Biology · Epidemiology
Research interest
Research interests include Medicine, Marfan syndrome, Phenotype, Atenolol, Aortic root, and Biology.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome
Influence of Aortic Stiffness on Aortic-Root Growth Rate and Outcome in Patients With the Marfan Syndrome
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome
Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy