Erin Huggins - Concepedia

Author

Erin Huggins

Also Known As

Erin Huggins, Huggins, Erin

Publications

400

Citations

H-Index

Concepts

All Affiliations

Erin Huggins is an author at Duke University specializing in medicine, pediatrics, and inherited metabolic disease.

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	294
2	Public Health	2	2	51
3	Epidemiology	2	2	258
4	Family Medicine	1	1	20
5	Immunology	1	1	16

Erin Huggins

Publications

367

Citations

H-Index

Page 1

	Year	Citations
Targeted long-read sequencing identifies missing disease-causing variation Danny E. Miller, Arvis Sulovari, Tianyun Wang, The American Journal of Human Genetics Long-read SequencingLong-read Sequencing IdentifiesNext-generation SequencingGenomicsMedicine	2021	227
The Global ALPL gene variant classification project: Dedicated to deciphering variants Mariam R. Farman, Catherine Rehder, Theodora Malli, Bone	2023	54
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening Erin Huggins, Maggie Holland, Laura E. Case, Molecular Genetics and Metabolism Inherited Metabolic DiseaseGenetic EpidemiologyPediatricsClinical EpidemiologyClinical Phenotype	2022	31
Recommendations to improve the patient experience and avoid bias when prenatal screening/testing Stephanie Meredith, Scotti Brackett, Keith M. Diaz, Disability and health journal Family MedicinePrenatal Screening/testingNewborn ScreeningPrenatal Genetic TestingAvoid Bias	2022	20
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management Erin Huggins, Ricardo C. Ong, Cheryl R. Greenberg, Molecular Genetics and Metabolism Reports	2020	19
The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease Ashlee R. Stiles, Erin Huggins, Luca Fierro, Molecular Genetics and Metabolism Reports Autoimmune DiseaseDisease ProgressionGaucher DiseasePathogenesisImmunology	2021	16

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