Aubrie Soucy
Boston Children's Hospital(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Autism Spectrum Disorder Research, CRISPR and Genetic Engineering, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease(2019)783 cited
- → Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes(2022)431 cited
- → Recessive gene disruptions in autism spectrum disorder(2019)174 cited
- → A framework for individualized splice-switching oligonucleotide therapy(2023)138 cited
- → Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior(2021)82 cited
- → The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2(2022)34 cited
- → Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments(2025)13 cited
- → Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior(2020)9 cited
- → Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments(2024)5 cited