Erin Huggins

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 227 citations · Full text

Long-read Sequencing, Long-read Sequencing Identifies, Next-generation Sequencing +4

The Global ALPL gene variant classification project: Dedicated to deciphering variants

Mariam R. Farman, Catherine Rehder, Theodora Malli et al. · Bone · 2023 · 54 citations · Full text

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

Erin Huggins, Maggie Holland, Laura E. Case et al. · Molecular Genetics and Metabolism · 2022 · 31 citations

Inherited Metabolic Disease, Genetic Epidemiology, Pediatrics +6

Recommendations to improve the patient experience and avoid bias when prenatal screening/testing

Stephanie Meredith, Scotti Brackett, Keith M. Diaz et al. · Disability and health journal · 2022 · 20 citations

Family Medicine, Prenatal Screening/testing, Newborn Screening +14

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

Erin Huggins, Ricardo C. Ong, Cheryl R. Greenberg et al. · Molecular Genetics and Metabolism Reports · 2020 · 19 citations · Full text