Publications
155
Citations
7,350
Est. group size
—
Recurring co-author estimate
Active years
45
Publishing since 1982
Stephen G. Kaler's research focuses on inherited disorders of copper metabolism, especially Menkes disease and occipital horn syndrome, which are caused by mutations affecting how the body transports and uses copper. His work spans clinical trials of copper and gene-based therapies, molecular characterization of related genetic disorders, and broader studies of trace element and metal metabolism in disease. He also contributes to case studies and reviews on rare genetic and metabolic conditions.
Publication output has fluctuated over the past decade, with a peak around 2021-2022, a dip in 2023-2024, and a resurgence in 2025-2026, averaging just under 4 publications per year over the last 5 years.
Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026
- Safety and efficacy of droxidopa for dysautonomia in adults with Menkes disease and occipital horn syndrome in the USA: a randomised phase 1/2a crossover trial
EClinicalMedicine · 2026
- Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease
Journal of Clinical Investigation · 2026
- Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for Diagnosis
JCEM Case Reports · 2025
- Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female
Molecular Genetics and Metabolism Reports · 2025
- Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant
Molecular Genetics and Metabolism · 2025
- Intravenous AAV9- <i>ATP7A</i> plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse model
Science Advances · 2025
- Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease
Human Molecular Genetics · 2025
- Short report: Twins with 20p13 duplication. Case report and comprehensive literature review
Molecular Genetics & Genomic Medicine · 2024
- Pregnancy, pregnancy outcomes, and infant growth and development after recovery from Ebola virus disease in Liberia: an observational cohort study
The Lancet Global Health · 2023
- Newly identified disorder of copper metabolism caused by variants in <i>CTR1</i>, a high-affinity copper transporter
Human Molecular Genetics · 2022
- Transduction characteristics of alternative adeno-associated virus serotypes in the cat brain by intracisternal delivery
Molecular Therapy — Methods & Clinical Development · 2022
- eP195: Safety and efficacy of Copper Histidinate (CUTX-101) treatment for Menkes disease caused by severe loss-of-function variants in ATP7A
Genetics in Medicine · 2022
- eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature
Genetics in Medicine · 2022
- OP004: Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter
Genetics in Medicine · 2022
- Table 5b. [Recommended Surveillance for a Male with Occipital Horn Syndrome].
2021
- Elsevier eBooks×6
- Molecular Genetics and Metabolism×4
- Molecular Genetics and Metabolism Reports×3
- Genetics in Medicine×3
- Journal of Biological Chemistry×2
- Mark L. Failla
Nursing · The Ohio State University
- Katherine A. Edmonds
Nursing · Indiana University
- David Giedroc
Nursing · Indiana University
- Amanda Bird
Nursing · The Ohio State University
- Chien‐Lin Yeh
Environmental Science · Purdue University West Lafayette
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 19, 2026.
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