Genética Médica

Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.

Clinical genetics. 2025 Mar; doi: 10.1111/cge.14722. pii: .

Ciliopathy organoid models: a comprehensive review.

American journal of physiology. Cell physiology. 2024 Dec; 327(Dec):C1604-C1625. doi: 10.1152/ajpcell.00343.2024. pii: .

Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics. 2024 Apr; 26(Apr):101052. doi: 10.1016/j.gim.2023.101052. pii: S1098-3600(23)01068-7.

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease.

The New England journal of medicine. 2025 Jun; 392(Jun):2235-2243. doi: 10.1056/NEJMoa2504747. pii: .

Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.

Clinical genetics. 2025 Mar; doi: 10.1111/cge.14722. pii: .

State of the art and perspectives of gene therapy in heart failure. A scientific statement of the Heart Failure Association of the ESC, the ESC Council on Cardiovascular Genomics and the ESC Working Group on Myocardial & Pericardial Diseases.

European journal of heart failure. 2025 Jan; 27(Jan):5-25. doi: 10.1002/ejhf.3516. pii: .

Ciliopathy organoid models: a comprehensive review.

American journal of physiology. Cell physiology. 2024 Dec; 327(Dec):C1604-C1625. doi: 10.1152/ajpcell.00343.2024. pii: .

Gene therapy for cardiac diseases: methods, challenges, and future directions.

Cardiovascular research. 2024 Nov; 120(Nov):1664-1682. doi: 10.1093/cvr/cvae207. pii: .

Effect of Everolimus on Prognosis of Neurofibromatosis Type 1 Lesions: A Systematic Review and Meta Analysis.

Clinical therapeutics. 2024 Nov; 46(Nov):865-869. doi: 10.1016/j.clinthera.2024.08.009. pii: S0149-2918(24)00220-0.

Reproductive options and genetic testing for patients with an inherited cardiac disease.

Nature reviews. Cardiology. 2024 Sep; doi: 10.1038/s41569-024-01073-3. pii: .

Gene Therapy in Cardiology: Is a Cure for Hypertrophic Cardiomyopathy on the Horizon?

The Canadian journal of cardiology. 2024 May; 40(May):777-788. doi: 10.1016/j.cjca.2023.11.024. pii: S0828-282X(23)01951-7.

Advanced cell and gene therapies in cardiology.

EBioMedicine. 2024 May; 103(May):105125. doi: 10.1016/j.ebiom.2024.105125. pii: 105125.

State of Gene Therapy for Monogenic Cardiovascular Diseases.

Mayo Clinic proceedings. 2024 Apr; 99(Apr):610-629. doi: 10.1016/j.mayocp.2023.11.003. pii: S0025-6196(23)00527-X.