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The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA, Zhang X, Theotokis P, Thomson K, Harper A, Buchan RJ, Mazaika E, Ormondroyd E, Wright WT, Macaya D, Pua CJ, Funke B, MacArthur DG, Prasad SK, Cook SA, Allouba M, Aguib Y, Yacoub MH, O'Regan DP, Barton PJR, Watkins H, Bottolo L, Ware JS. McGurk KA, et al. Among authors: macaya d. Am J Hum Genet. 2023 Sep 7;110(9):1482-1495. doi: 10.1016/j.ajhg.2023.08.003. Epub 2023 Aug 30. Am J Hum Genet. 2023. PMID: 37652022 Free PMC article.
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Welch CL, et al. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL, De Castro M, Horner VL, Johnston T, Macaya D, Maleszewski JJ, Reddi HV, Tayeh MK; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. Deignan JL, et al. Among authors: macaya d. Genet Med. 2023 May;25(5):100017. doi: 10.1016/j.gim.2023.100017. Epub 2023 Feb 16. Genet Med. 2023. PMID: 36799919 Free article. No abstract available.
A depiction of a dream.
Macaya D, Kryger MH. Macaya D, et al. Sleep Health. 2022 Apr;8(2):137-138. doi: 10.1016/j.sleh.2022.02.002. Epub 2022 Mar 4. Sleep Health. 2022. PMID: 35256310 No abstract available.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Morales A, Ing A, Antolik C, Austin-Tse C, Baudhuin LM, Bronicki L, Cirino A, Hawley MH, Fietz M, Garcia J, Ho C, Ingles J, Jarinova O, Johnston T, Kelly MA, Kurtz CL, Lebo M, Macaya D, Mahanta L, Maleszewski J, Manrai AK, Murray M, Richard G, Semsarian C, Thomson KL, Winder T, Ware JS, Hershberger RE, Funke BH, Vatta M; ClinGen Cardiovascular Clinical Domain Working Group; Cardiomyopathy Variant Curation Expert Panel. Morales A, et al. Among authors: macaya d. J Mol Diagn. 2021 May;23(5):589-598. doi: 10.1016/j.jmoldx.2021.01.014. Epub 2021 Feb 22. J Mol Diagn. 2021. PMID: 33631351 Free PMC article.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. Hawley MH, et al. Among authors: macaya d. Hum Mutat. 2020 Sep;41(9):1577-1587. doi: 10.1002/humu.24061. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32516855 Free PMC article.
Global sea-surface iodide observations, 1967-2018.
Chance RJ, Tinel L, Sherwen T, Baker AR, Bell T, Brindle J, Campos MLAM, Croot P, Ducklow H, Peng H, Hopkins F, Hoogakker B, Hughes C, Jickells TD, Loades D, Macaya DAR, Mahajan AS, Malin G, Phillips D, Roberts I, Roy R, Sarkar A, Sinha AK, Song X, Winkelbauer H, Wuttig K, Yang M, Peng Z, Carpenter LJ. Chance RJ, et al. Among authors: macaya dar. Sci Data. 2019 Nov 26;6(1):286. doi: 10.1038/s41597-019-0288-y. Sci Data. 2019. PMID: 31772255 Free PMC article.
26 results