Marshall L. Summar
Medical Genetics | Pediatrics
5550 Friendship Blvd Ste 580
Chevy Chase, MD 20815
Chevy Chase, MD 20815
Last Updated: 09/26/2026
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Found 79 publications
A novel pretreatment of dried blood spot filter paper to improve the preservation of amino acids: a technology to increase access and care.
Journal: Molecular genetics and metabolism
Published: June 15, 2026
Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial.
Journal: Clinical and translational science
Published: February 19, 2026
The Placebo Effect in Rare Disease Clinical Trials: Measurement, Impact, and Statistical Approaches for Patient-as-Own-Control Designs.
Journal: Clinical and translational science
Published: February 19, 2026
Potential therapeutic uses of L-citrulline beyond genetic urea cycle disorders.
Journal: Journal of inherited metabolic disease
Published: September 22, 2024
Correspondence on "The Clinical Geneticist Workforce: Community Forums to Address Challenges and Opportunities" by Chung et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 14, 2024
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography.
Journal: Molecular genetics and metabolism reports
Published: July 04, 2024
Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical Trials.
Journal: Pharmaceutical medicine
Published: June 14, 2024
Glutathione peroxidase 3 is a potential biomarker for konzo.
Journal: Nature communications
Published: February 08, 2024
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.
Journal: International journal of environmental research and public health
Published: December 22, 2022
The past, present, and future of child growth monitoring: A review and primer for clinical genetics.
The past, present, and future of child growth monitoring: A review and primer for clinical genetics.
Journal: American journal of medical genetics. Part A
Published: November 03, 2022
Association of citrulline concentration at birth with lower respiratory tract infection in infancy: Findings from a multi-site birth cohort study.
Journal: Frontiers in pediatrics
Published: June 27, 2022
Acylcarnitines and Genetic Variation in Fat Oxidation Genes in HIV-infected, Antiretroviral-treated Children With and Without Myopathy.
Journal: The Pediatric infectious disease journal
Published: May 27, 2022
Last Updated: 09/26/2026