Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, BRCA gene mutations in cancer, Genetic Associations and Epidemiology, and RNA Research and Splicing.
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
The 2017 international classification of the Ehlers–Danlos syndromes
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome