Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include Genetics, Phenotype, Medicine, Biology, Exome sequencing, and Copy-number variation.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
The complex behavioral phenotype of 15q13.3 microdeletion syndrome
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants