Erin Huggins

发表

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

P. Kishnani, L. Case, A. Landstrom, 2022, Molecular genetics and metabolism.

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

C. Rehder, S. Goomber, D. Bali, 2022, Frontiers in Genetics.

Developmental trajectories for novice teachers: teaching efficacy, instructional beliefs, and domain knowledge

M. Thomson, DeLeon L. Gray, S. Carrier, 2022, International Journal of Science Education.

Family Planning Decisions After A Child’s Diagnosis Of Rett Syndrome: A Pilot Study

Erin Huggins, 2018 .

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Seung-hye Jung, M. Balwani, P. Kishnani, 2021, Molecular genetics and metabolism reports.

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

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

K. Diaz, B. Skotko, Mark W. Leach, 2022, Disability and health journal.

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

P. Kishnani, C. Rockman‐Greenberg, Ricardo Ong, 2020, Molecular genetics and metabolism reports.

Developmental science efficacy trajectories of novice teachers from a STEM-Focused program: A longitudinal mixed-methods investigation

M. Thomson, Wayne Williams, Erin Huggins, 2019, Teaching and Teacher Education.

Mathematics teaching efficacy and developmental trajectories: A mixed-methods investigation of novice K-5 teachers

Temple A. Walkowiak, M. Thomson, A. N. Whitehead, 2020 .

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

P. Kishnani, G. Martos-Moreno, A. El-Gazzar, 2023, Bone.