Author

Nicole DeBruyne

Observed names: DeBruyne, Nicole, Nicole Debruyne

Institutions: Children's Hospital of Philadelphia, University of Pennsylvania

Observed institutions: Children's Hospital of Philadelphia, North Carolina State University, University of Pennsylvania

ORCID: 0009-0009-2947-0288

Observed ORCID: 0009-0009-2947-0288

OpenAlex ID: A5087873448

Long-read RNA sequencing: A transformative technology for exploring transcriptome complexity in human diseases

2024 · Isabelle Heifetz Ament, Nicole DeBruyne, et al. · Molecular Therapy · 69

Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3′ UTR of FAIM2

2024 · Sheridan H. Littleton, Khanh B. Trang, et al. · Cell Genomics · 19

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment

2022 · Christian Woelfel, Kathryn Meurs, et al. · Journal of Veterinary Internal Medicine · 10

Evaluating the potential and limitations of nanopore adaptive sampling for targeted transcriptome sequencing

2025 · Nicole DeBruyne, Feng Wang, et al. · Genome biology · 9

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

2026 · Robert Wang, Feng Wang, et al. · Science Advances · 2

NanoTS: a deep learning tool for accurate SNP calling in nanopore long-read transcriptome data

2026 · Zelin Liu, Feng Wang, et al. · Nature Methods

Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype

2026 · Emma K. Wiener, Rocio Rius, et al. · medRxiv

An iPSC model of thrombocytopenia-absent radius syndrome links aberrant splicing to impaired megakaryopoiesis

2026 · Catriana C. Nations, Jenea I. Adams, et al. · Blood Vessels Thrombosis & Hemostasis

Works count: 9

Citation count: 110

H-index: 4

I10-index: 3