Author

Millie Young

Observed names: Millie E. Young, Young, Millie

Institution: Clinic for Special Children

Observed institutions: Clinic for Special Children, Pennsylvania State University, Franklin & Marshall College, Lancaster General Hospital, Penn State Milton S. Hershey Medical Center

ORCID: 0000-0001-6014-5189

Observed ORCID: 0000-0001-6014-5189

OpenAlex ID: A5014802955

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

2020 · Kevin A. Strauss, Vincent J. Carson, et al. · Molecular Genetics and Metabolism · 177

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Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

2020 · Kevin A. Strauss, Katie B. Williams, et al. · Molecular Genetics and Metabolism · 72

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Genomic diagnostics within a medically underserved population: efficacy and implications

2017 · Kevin A. Strauss, Claudia Gonzaga-Jauregui, et al. · Genetics in Medicine · 66

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Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy

2018 · Kevin A. Strauss, Vincent J. Carson, et al. · Journal of Pediatric Orthopaedics · 62

Crigler‐Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier

2019 · Kevin A. Strauss, Charles E. Ahlfors, et al. · Hepatology · 61

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier

2019 · Lauren E. Bowser, Millie Young, et al. · Molecular Genetics and Metabolism · 57

Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes ofHSD3B2c.35G>A Homozygotes

2015 · Abigail R. Benkert, Millie Young, et al. · The Journal of Clinical Endocrinology & Metabolism · 38

Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy

2021 · Vincent J. Carson, Millie Young, et al. · Muscle & Nerve · 20

Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history

2018 · Vincent J. Carson, Erik G. Puffenberger, et al. · PLoS ONE · 12

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Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia

2017 · Devyani Chowdhury, Katie B. Williams, et al. · The Journal of Pediatrics · 11

Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

2022 · Katie B. Williams, Michael Horst, et al. · BMC Cardiovascular Disorders · 9

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Preemptive dual therapy for children at risk for infantile‐onset spinal muscular atrophy

2024 · Susan E. Matesanz, Karlla W. Brigatti, et al. · Annals of Clinical and Translational Neurology · 6

A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice

2025 · Bradley R. Miller, Claudia Gonzaga-Jauregui, et al. · Proceedings of the National Academy of Sciences · 3

191 CMV-specific adaptive immune response in U.S. Mennonite patients with hypomorphic RAG1 or RAG2 mutations presenting with clinical variability

2024 · David Evan Potts, Boglarka Ujhazi, et al. · Clinical Immunology

WiTNNess : An international natural history study of infantile‐onset TNNT1 myopathy

2023 · Kevin A. Strauss, Vincent J. Carson, et al. · Annals of Clinical and Translational Neurology

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Lipid Levels and Vascular Function in Young Individuals, Heterozygous or Homozygous for an Apob C.1058g>a Variant

2017 · Devyani Chowdhury, Christine Pascua, et al. · Journal of the American College of Cardiology

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Works count: 18

Citation count: 594

H-index: 10

I10-index: 10