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E

Erin Huggins

duke university

7H-index
29Paper Count
409Citation Count
Published Papers 15
Publication Date
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Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening
errMolecular Genetics and Metabolism
IF3.5
err2026-03-04
err0
PREAI
errLaura E. Case; Erin Huggins; Harrison N. Jones; Lisa D. Hobson-Webb; Deborah R. McMechan; Neelam Makhijani; Erica Nading; Steven A. Moore; Priya S. Kishnani
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Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants
errJOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
err2025-10-01
err0
errOAAI
errMontero-Lopez, Rodrigo; Farman, Mariam R.; Hogler, Florian; Rehder, Catherine; Malli, Theodora; Webersinke, Gerald; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Ozono, Keiichi; Seefried, Lothar; del Angel, Guillermo; Nading, Erica Burner; Huggins, Erin; Rush, Eric T.; Tauer, Josephine T.; Kishnani, Priya S.; Hogler, Wolfgang
errShare
errSave
Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights from Parental Perspectives
errPediatric Neurology
IF2.1
err2025-08-12
err0
PREAI
errMyriam Boueri; Allison Paltzer; Erin Huggins; Ellen Linebaugh; Debera Zvejnieks; Jessica Doxey; Gail Spiridigliozzi; Seung-Hye Jung; Priya S. Kishnani
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errSave
Co-existing genetic disorders in Pompe disease: Exome analysis of a large Pompe disease cohort identifies disease-modifying cryptic dual diagnoses
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errCocanougher, Benjamin; Francescatto, Ludmila; Huggins, Erin; Jung, Seung-Hye; Kishnani, Priya S.
errShare
errSave
Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errHuggins, Erin; Nading, Erica; Makhijani, Neelam; Blount, Janet; Holland, Maggie; Case, Laura; Kishnani, Priya
errShare
errSave
Atypical neurological presentation in Gaucher disease type 3C
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errWang, John S.; Huggins, Erin; Kishnani, Priya
errShare
errSave
The Global ALPL gene variant classification project: Dedicated to deciphering variants
errBONE
IF3.6
err2024-01-01
err23
errOAAI
errFarman, Mariam R.; Rehder, Catherine; Malli, Theodora; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Ozono, Keiichi; Seefried, Lothar; del Angel, Guillermo; Webersinke, Gerald; Barbazza, Francesca; John, Lisa K.; Mudiyanselage, Sewmi M. A. Delana; Hoegler, Florian; Nading, Erica Burner; Huggins, Erin; Rush, Eric T.; El-Gazzar, Ahmed; Kishnani, Priya S.; Hoegler, Wolfgang
errShare
errSave
Recommendations to improve the patient experience and avoid bias when prenatal screening/testing
errDISABILITY AND HEALTH JOURNAL
IF3.3
err2023-04-01
err12
PREAI
errMeredith, Stephanie; Brackett, Scotti; Diaz, Keith M.; Freeman, Kathleen G.; Huggins, Erin; Khan, Hadia; Leach, Mark W.; Levitz, Mitchell; Michie, Marsha; Onufer, Janet; Skotko, Brian G.; Smith, Leah; White, A. Nicole; Waller, Tracy; Ayers, Kara
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errSave
Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-02-01
err0
PREAI
errHuggins, Erin; Makhijani, Neelam A.; Holland, Maggie; Jones, Harrison; Blount, Janet; Jung, Seung-Hye; Case, Laura; Kishnani, Priya S.
errShare
errSave
GSD II and two: A case series of Pompe disease with coexisting genetic diagnoses
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-02-01
err0
PREAI
errHuggins, Erin; Cocanougher, Benjamin T.; Kishnani, Priya S.
errShare
errSave
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-03-01
err22
PREAI
errHuggins, Erin; Holland, Maggie; Case, Laura E.; Blount, Janet; Landstrom, Andrew P.; Jones, Harrison N.; Kishnani, Priya S.
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errSave
Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients
errGENETICS IN MEDICINE
IF6.2
err2022-03-01
err0
errOAAI
errGoomber, Shelly; Huggins, Erin; Rehder, Catherine; Cohen, Jennifer L.; Bali, Deeksha; Kishnani, Priya
errShare
errSave
Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-02-01
err1
PREAI
errHuggins, Erin; Holland, Maggie; Case, Laura E.; Blount, Janet; Landstrom, Andrew P.; Jones, Harrison N.; Kishnani, Priya S.
errShare
errSave
Targeted long-read sequencing identifies missing disease-causing variation
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2021-08-01
err137
errOAAI
errMiller, Danny E.; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M.; Lewis, Alexandra P.; Fuerte, Edith P. Almanza; Paschal, Catherine R.; Walsh, Tom; Thies, Jenny; Bennett, James T.; Glass, Ian; Dipple, Katrina M.; Patterson, Karynne; Bonkowski, Emily S.; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L.; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J.; Chow, Penny; Hing, Anne, V; Wenger, Tara L.; Adam, Margaret P.; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L.; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K.; Reddy, Timothy E.; Majoros, William H.; Allen, Andrew S.; Crawford, Gregory E.; Kishnani, Priya S.; King, Mary-Claire; Cherry, Tim; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Doherty, Dan; Eichler, Evan E.
errShare
errSave
Early diagnosis and treatment of infantile-onset Pompe disease via newborn screen
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2021-02-01
err0
PREAI
errCohen, Jennifer L.; Desai, Ankit; Li, Cindy; Huggins, Erin; Cooper, Gabrielle; Bhambhani, Vikas; Dempsey, Katherine; Ficicioglu, Can; Gupta, Punita; Austin, Stephanie; Kishnani, Priya S.
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errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
E
Evan E. Eichler
H-index: 191 · Papers: 864
D
Deborah A. Nickerson
H-index: 120 · Papers: 675
M
Mary‐Claire King
H-index: 109 · Papers: 475
M
Michael J. Bamshad
H-index: 96 · Papers: 552
G
Gregory E. Crawford
H-index: 91 · Papers: 293
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