Publication Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
Publication Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance.
Publication Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.
Publication A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome.
Publication Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers.
Publication Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study.
Publication Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery.
