Author

Aubrie Soucy

Boston Children's HospitalORCID 0000-0001-8633-0032Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Timothy W. YuiD· 2 shared A Jarratt· 1 shared A Raven· 1 shared Aastha Gandhi· 1 shared Abha R. GuptaiD· 1 shared Ada HamoshiD· 1 shared Addie Luo· 1 shared Adrienne L. AdamsiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Timothy W. YuORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 26, 2025

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments

David Cheerie, Margaret M. Meserve, Danique Beijer…·Marlen C. Lauffer

The paper presents consensus guidelines for assessing pathogenic variants' eligibility for antisense oligonucleotide treatments, including classification criteria and considerations for different therapeutic approaches.

31 citationstop 1%

benchmark studydatabase / resource

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Genetic & Genomic MedicineNature GeneticsPeer-reviewedAug 18, 2022

Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes

Xueya Zhou, Pamela Feliciano, Chang Shu…·Catherine A. Edmonson

The paper identifies 60 new moderate risk genes for autism by integrating de novo and inherited variants across 42,607 cases and 236,000 controls.

457 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 3, 2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

84 citationstop 3%

humanbulk RNA-seq

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