Area of research
Genetics · Immunology
Research interest
Research interests include T-cell and B-cell Immunology, Thyroid Disorders and Treatments, Genomics and Rare Diseases, and Monoclonal and Polyclonal Antibodies Research.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Rare variants in <i>ANO1</i> , encoding a calcium-activated chloride channel, predispose to moyamoya disease
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
PMS2 monoallelic mutation carriers: the known unknown
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review