Laurie Simone
Hackensack University Medical Center(US)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Hedgehog Signaling Pathway Studies, Autism Spectrum Disorder Research, Language, Discourse, Communication Strategies, Cystic Fibrosis Research Advances
Most-Cited Works
- → Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes(2021)25 cited
- → Reproductive male partner testing when the female is identified to be a genetic disease carrier(2020)19 cited
- → De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features(2020)16 cited
- → Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus(2024)6 cited
- → Spanish language opportunities in genetic counseling training programs in the United States(2024)1 cited
- → Uptake rates for non‐invasive prenatal screening for single‐gene disorders associated with advanced paternal age(2025)
- Report on Council 2007 / 2008 : annual general meeting(2008)