Latest Research in Metabolism and Genetic Disorders

Top Research Topics in Metabolism and Genetic Disorders

• BRCA gene mutations in cancer — 7 papers
• Metabolism and Genetic Disorders — 5 papers
• Genetic Associations and Epidemiology — 3 papers
• Genomics and Rare Diseases — 2 papers
• Liver Disease Diagnosis and Treatment — 1 papers
• Neurogenetic and Muscular Disorders Research — 1 papers
• Prenatal Screening and Diagnostics — 1 papers
• Iron Metabolism and Disorders — 1 papers
• Traditional Chinese Medicine Studies — 1 papers
• Meta-analysis and systematic reviews — 1 papers

Highest-Cited Papers

1. Targeting the cardiohepatic–metabolic axis: GLP‐1–based and incretin multi‐agonist therapies in MASH
2. Design, implementation, and evaluation of genomic newborn screening programs: researchers’ perspectives on ethical considerations
3. Mechanisms of Aging in Phenylketonuria ( PKU )
4. The imperative of newborn screening programs in developing countries: beyond the illusion of health at birth
5. From questions to impact in spinal muscular atrophy - identifying community-driven research priorities through a multi-stakeholder European initiative
6. Knowledge, attitudes, and self-efficacy toward cancer genetic testing among Black women with and without breast cancer
7. Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women
8. Circuits that guarantee iron homeostasis: from cellular sensing to systemic control
9. CLINICAL ASSESSMENT OF AN INTEGRATIVE THERAPEUTIC APPROACH USING LIV IMMUNE CAPSULES IN PATIENTS WITH FATTY LIVER AND DYSLIPIDEMIA: AN OPEN-LABEL CLINICAL STUDY
10. Comparative evaluation of statistical learning methods for polygenic prediction in UK Biobank
11. Pilot Evaluation of a Digital Pretest Education Platform for Genomic Counseling: Perspectives of Health Care Providers and Patients
12. Genetic Testing Uptake Among Patients With Newly Diagnosed Breast Cancer
13. From research to clinic: using BPMN for implementation and iterative improvement of polygenic risk score analysis workflows
14. Psychological, social, and ethical implications of population-based genetic testing among adults: a systematic scoping review protocol with a focus on cancer
15. Facing Genetics: Family Explanatory Models and Genomic Literacy in Cleft Care in Colombia
16. Newborn screening in Karnataka: A scoping review of the landscape
17. Decision Analysis to Inform Screening of the Young: An Interactive Newborn Screening Model
18. Community, family and patient engagement with hereditary cancer genetic testing: a qualitative study from Peru
19. Mediterranean Diet and Micronutrient Adequacy in Relation to Relapsing‐Remitting Multiple Sclerosis Risk: A Case‐Control Study
20. The evolution of hereditary cancer genetic counselling: mainstreaming, service redesign and patient experience in Lynch syndrome