Marshall Summar

Children's National — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

54h-index9.2kcitations217works1.72yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Metabolism and Genetic Disorders(83), Diet and metabolism studies(21), Amino Acid Enzymes and Metabolism(19), Neonatal Respiratory Health Research(17), Nitric Oxide and Endothelin Effects(16)

Publications214 total

Glutathione peroxidase 3 is a potential biomarker for konzo
Neuroscience·2025
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
Molecular Genetics and Metabolism Reports·2025Open Access
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders
Journal of Inherited Metabolic Disease·2024· 3 citedOpen Access
Glutathione peroxidase 3 is a potential biomarker for konzo
Nature Communications·2024· 2 citedOpen Access
Correspondence on “The Clinical Geneticist Workforce: Community Forums to Address Challenges and Opportunities” by Chung et al
Genetics in Medicine·2024· 1 citedOpen Access
Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical Trials
Pharmaceutical Medicine·2024· 6 cited
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 minutes, using reverse phase high performance liquid chromatography
2024Open Access
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges
International Journal of Environmental Research and Public Health·2023· 136 citedOpen Access
The past, present, and future of child growth monitoring: A review and primer for clinical genetics
American Journal of Medical Genetics Part A·2023· 12 cited
Design of an adaptive randomized clinical trial of intravenous citrulline for sickle cell pain crisis in the emergency department
Contemporary Clinical Trials Communications·2023· 3 citedOpen Access
A Rapid Method for Simultaneously Measuring Ammonium and Amino Acids in Plasma Using Rp-Hplc
SSRN Electronic Journal·2023Open Access
Association of citrulline concentration at birth with lower respiratory tract infection in infancy: Findings from a multi-site birth cohort study
Frontiers in Pediatrics·2022· 3 citedOpen Access
Amino acid signature during sickle cell pain crisis shows significant alterations related to nitric oxide and energy metabolism
Molecular Genetics and Metabolism·2022· 11 cited
Acylcarnitines and Genetic Variation in Fat Oxidation Genes in HIV-infected, Antiretroviral-treated Children With and Without Myopathy
The Pediatric Infectious Disease Journal·2022Open Access
A machine learning-based screening tool for genetic syndromes in children – Authors' reply
The Lancet Digital Health·2022· 1 citedOpen Access
RECAPITULATION OF METABOLIC DEFECTS IN MODELS OF THE UREA CYCLE DISORDERS CPS1, OTC, ASS1, ASL, AND ARG1 USING PATIENT-DERIVED PRIMARY HEPATOCYTES
Molecular Genetics and Metabolism·2022
ACYL-COA DEHYDROGENASES (ACAD) SUBSTRATE PROMISCUITY EXPLAINS THE DIVERGENT PHENOTYPES ASSOCIATED WITH ACAD DEFICIENCIES
Molecular Genetics and Metabolism·2022· 2 cited
The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study
Translational Science of Rare Diseases·2021· 3 citedOpen Access
Folic acid, either solely or combined with L‐citrulline, improves NO signaling and ameliorates chronic hypoxia‐induced pulmonary hypertension in newborn pigs
Physiological Reports·2021· 5 citedOpen Access
Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study
The Lancet Digital Health·2021· 67 citedOpen Access
page 1 of 11Next →

Frequent Co-authors

Kimberly A. Chapman(7), Brendan Lee(6), Brian W. Christman(6), Andrea Gropman(6), Marius George Linguraru(6), Nicholas Ah Mew(6), Antonio R. Porras(5), Johannes Häberle(4), Anupam Chakrapani(4), Mendel Tuchman(4), Paul Kruszka(4), Yonit A. Addissie(4), Brian Hon‐Yin Chung(4), Gary Mok(4), Premala Muthukumarasamy(4), Meow‐Keong Thong(4), Nirmala D. Sirisena(4), Vajira H. W. Dissanayake(4), C. S. Paththinige(4), Vorasuk Shotelersuk(4)