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29 results

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Page 1
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.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Kelly MA, et al. Among authors: macaya d. Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300372 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 Free PMC article.
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.
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.
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.
Eichstaedt CA, Maldonado-Velez G, Machado RD, Gräf S, Dooijes D, Balachandar S, Coulet F, Day K, Eyries M, Macaya D, Shaukat M, Southgate L, Tenorio-Castano J, Chung WK, Welch CL, Aldred MA. Eichstaedt CA, et al. Among authors: macaya d. Hum Mutat. 2025 Jul 6;2025:2475635. doi: 10.1155/humu/2475635. eCollection 2025. Hum Mutat. 2025. PMID: 40661831 Free PMC article.
29 results