Daniela Macaya

1.4k total citations
12 papers, 440 citations indexed

About

Daniela Macaya is a scholar working on Genetics, Cardiology and Cardiovascular Medicine and Molecular Biology. According to data from OpenAlex, Daniela Macaya has authored 12 papers receiving a total of 440 indexed citations (citations by other indexed papers that have themselves been cited), including 6 papers in Genetics, 4 papers in Cardiology and Cardiovascular Medicine and 3 papers in Molecular Biology. Recurrent topics in Daniela Macaya's work include Cardiac electrophysiology and arrhythmias (4 papers), Genomics and Rare Diseases (3 papers) and Ethics in Clinical Research (2 papers). Daniela Macaya is often cited by papers focused on Cardiac electrophysiology and arrhythmias (4 papers), Genomics and Rare Diseases (3 papers) and Ethics in Clinical Research (2 papers). Daniela Macaya collaborates with scholars based in United States, United Kingdom and Costa Rica. Daniela Macaya's co-authors include Douglas L. Riegert‐Johnson, Richard O. Jones, Ann B. Moser, Steven J. Steinberg, Susan R. Panny, Coleman Turgeon, Walter C. Hubbard, Fred Lorey, Robert F. Vogt and Daniel P. Judge and has published in prestigious journals such as Science Translational Medicine, Human Mutation and Genetics in Medicine.

In The Last Decade

Daniela Macaya

10 papers receiving 429 citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Daniela Macaya United States	7	256	158	104	69	61	12	440
Sofía Gouveia Spain	11	152 0.6×	114 0.7×	59 0.6×	37 0.5×	52 0.9×	37	361
Bindu Ramachandran United States	11	313 1.2×	75 0.5×	54 0.5×	17 0.2×	63 1.0×	14	480
Irini Tossidou Germany	16	270 1.1×	113 0.7×	31 0.3×	21 0.3×	48 0.8×	18	620
Masakazu Kohda Japan	14	515 2.0×	146 0.9×	31 0.3×	206 3.0×	14 0.2×	36	725
Monica Piccini Italy	8	240 0.9×	58 0.4×	67 0.6×	16 0.2×	21 0.3×	8	378
Sarah E. Brnich United States	5	281 1.1×	302 1.9×	40 0.4×	15 0.2×	13 0.2×	6	471
Zahra Assouline France	13	357 1.4×	63 0.4×	33 0.3×	141 2.0×	20 0.3×	26	505
Daniel Trujillano Spain	14	397 1.6×	265 1.7×	15 0.1×	53 0.8×	21 0.3×	15	609
Johanna C. Herkert Netherlands	12	194 0.8×	156 1.0×	160 1.5×	20 0.3×	7 0.1×	16	432
Carla Asteggiano Argentina	12	224 0.9×	53 0.3×	30 0.3×	34 0.5×	47 0.8×	22	457

Countries citing papers authored by Daniela Macaya

Since Specialization

Citations

This map shows the geographic impact of Daniela Macaya's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Daniela Macaya with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Daniela Macaya more than expected).

Fields of papers citing papers by Daniela Macaya

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Daniela Macaya. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Daniela Macaya. The network helps show where Daniela Macaya may publish in the future.

Co-authorship network of co-authors of Daniela Macaya

This figure shows the co-authorship network connecting the top 25 collaborators of Daniela Macaya. A scholar is included among the top collaborators of Daniela Macaya based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Daniela Macaya. Daniela Macaya is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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12 of 12 papers shown

Dutta, Dibyendu, et al.. (2025). Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants. Journal of Human Genetics. 71(2). 105–108.

Eichstaedt, Christina A., Rajiv D. Machado, Stefan Gräf, et al.. (2025). Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar. Human Mutation. 2025(1). 2475635–2475635.

Deignan, Joshua L., Mauricio De Castro, Vanessa L. Horner, et al.. (2023). Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 25(5). 100017–100017. 6 indexed citations

MacLeod, Heather, et al.. (2022). Postmortem Genetic Testing Is an Increasingly Utilized Tool in Death Investigation. Academic Forensic Pathology. 12(4). 129–139. 3 indexed citations

Vanoye, Carlos G., Reshma R. Desai, F Potet, et al.. (2018). High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance. Circulation Genomic and Precision Medicine. 11(11). e002345–e002345. 71 indexed citations

Bersell, Kevin, Jay A. Montgomery, Arvindh N. Kanagasundram, et al.. (2016). Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange–Nielsen Syndrome. Circulation Arrhythmia and Electrophysiology. 9(6). 1 indexed citations

Lieve, Krystien V.V., Amy Daly, Gabriele Richard, et al.. (2013). Results of Genetic Testing in 855 Consecutive Unrelated Patients Referred for Long QT Syndrome in a Clinical Laboratory. Genetic Testing and Molecular Biomarkers. 17(7). 553–561. 31 indexed citations

Loeys, Bart, Elizabeth E. Gerber, Douglas L. Riegert‐Johnson, et al.. (2010). Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome. Science Translational Medicine. 2(23). 23ra20–23ra20. 165 indexed citations

Macaya, Daniela, et al.. (2009). A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis‐splicing of a constitutive exon. American Journal of Medical Genetics Part A. 149A(8). 1624–1627. 24 indexed citations

10.

Hubbard, Walter C., Ann B. Moser, Richard O. Jones, et al.. (2009). Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method. Molecular Genetics and Metabolism. 97(3). 212–220. 124 indexed citations

11.

Riegert‐Johnson, Douglas L., Daniela Macaya, Timothy Hefferon, & Lisa A. Boardman. (2008). The incidence of duplicate genetic testing. Genetics in Medicine. 10(2). 114–116. 12 indexed citations

12.

Riegert‐Johnson, Douglas L., Daniela Macaya, Timothy Hefferon, & Lisa A. Boardman. (2007). Medical Errors Related to Inappropriate Genetic Testing in Liver Transplant Patients. Genetic Testing. 11(4). 451–454. 3 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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