Beatriz Puisac

1.3k total citations
45 papers, 568 citations indexed

About

Beatriz Puisac is a scholar working on Molecular Biology, Genetics and Clinical Biochemistry. According to data from OpenAlex, Beatriz Puisac has authored 45 papers receiving a total of 568 indexed citations (citations by other indexed papers that have themselves been cited), including 42 papers in Molecular Biology, 10 papers in Genetics and 9 papers in Clinical Biochemistry. Recurrent topics in Beatriz Puisac's work include Genomics and Chromatin Dynamics (22 papers), RNA Research and Splicing (17 papers) and RNA modifications and cancer (12 papers). Beatriz Puisac is often cited by papers focused on Genomics and Chromatin Dynamics (22 papers), RNA Research and Splicing (17 papers) and RNA modifications and cancer (12 papers). Beatriz Puisac collaborates with scholars based in Spain, Germany and Italy. Beatriz Puisac's co-authors include Juan Pié, Feliciano J. Ramos, Paulino Gómez‐Puertas, Núria Casals, Fausto G. Hegardt, María Arnedo, Ana Latorre, Sebastián Menao, César H. Casale and Gloria Bueno and has published in prestigious journals such as Journal of Biological Chemistry, Nature Communications and The Journal of Experimental Medicine.

In The Last Decade

Beatriz Puisac

40 papers receiving 568 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Beatriz Puisac Spain 16 431 119 117 79 33 45 568
Karolina Szczepanowska Germany 14 586 1.4× 123 1.0× 27 0.2× 117 1.5× 36 1.1× 19 726
Patrizia Annunziata Italy 13 191 0.4× 56 0.5× 77 0.7× 90 1.1× 31 0.9× 19 407
Carol X Chen Canada 4 657 1.5× 91 0.8× 30 0.3× 181 2.3× 36 1.1× 4 949
Kathryn Louie United States 9 272 0.6× 36 0.3× 54 0.5× 62 0.8× 26 0.8× 10 453
Maja Di Rocco Italy 12 212 0.5× 122 1.0× 69 0.6× 131 1.7× 8 0.2× 20 459
Olga S. Koutsopoulos Australia 6 884 2.1× 245 2.1× 33 0.3× 143 1.8× 45 1.4× 6 1.0k
Priyanka Madireddi United States 6 648 1.5× 71 0.6× 24 0.2× 129 1.6× 58 1.8× 6 750
Cody R. Fisher United States 10 402 0.9× 42 0.4× 37 0.3× 33 0.4× 26 0.8× 14 588
Nobuko Matsushita Japan 10 599 1.4× 94 0.8× 22 0.2× 107 1.4× 40 1.2× 12 808
Gregory S. McElroy United States 10 422 1.0× 52 0.4× 48 0.4× 52 0.7× 176 5.3× 12 577

Countries citing papers authored by Beatriz Puisac

Since Specialization
Citations

This map shows the geographic impact of Beatriz Puisac'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 Beatriz Puisac with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Beatriz Puisac more than expected).

Fields of papers citing papers by Beatriz Puisac

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Beatriz Puisac. 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 Beatriz Puisac. The network helps show where Beatriz Puisac may publish in the future.

Co-authorship network of co-authors of Beatriz Puisac

This figure shows the co-authorship network connecting the top 25 collaborators of Beatriz Puisac. A scholar is included among the top collaborators of Beatriz Puisac 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 Beatriz Puisac. Beatriz Puisac is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Arnedo, María, Beatriz Puisac, Ana Latorre, et al.. (2025). Ligand–Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency. International Journal of Molecular Sciences. 26(17). 8266–8266.
2.
Arnedo, María, Beatriz Puisac, Ana Latorre, et al.. (2024). Cornelia de Lange Spectrum. SHILAP Revista de lepidopterología. 100(5). 352–362. 2 indexed citations
3.
Arnedo, María, Ana Latorre, Paulino Gómez‐Puertas, et al.. (2022). Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches. International Journal of Molecular Sciences. 23(17). 9649–9649. 10 indexed citations
4.
Valenzuela, Irene, Ana Latorre, María Arnedo, et al.. (2022). A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome. Genes. 13(8). 1413–1413. 1 indexed citations
5.
Latorre, Ana, Beatriz Puisac, María Arnedo, et al.. (2022). Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome. Journal of Clinical Research in Pediatric Endocrinology. 16(2). 211–217. 2 indexed citations
6.
Matute-Llorente, Ángel, Ana Latorre, Beatriz Puisac, et al.. (2021). Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome. Applied Sciences. 11(2). 710–710. 5 indexed citations
7.
Garcia, Patrícia Salomão, Ana Cuadrado, Antonio Gómez, et al.. (2021). Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome. Nature Communications. 12(1). 4551–4551. 25 indexed citations
8.
Gold, Nina B., Dong Li, Anna Chassevent, et al.. (2020). Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Clinical Genetics. 98(6). 571–576. 10 indexed citations
9.
Bagheri‐Fam, Stefan, Huijun Chen, Sean B. Wilson, et al.. (2020). The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice. PLoS ONE. 15(1). e0227411–e0227411. 13 indexed citations
10.
Puisac, Beatriz, et al.. (2019). Cornelia de Lange syndrome: Ventricular size and function in six children without congenital heart defects. Medicina Clínica (English Edition). 154(2). 67–68. 1 indexed citations
11.
Arnedo, María, Ana Latorre, Paulino Gómez‐Puertas, et al.. (2019). More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones. International Journal of Molecular Sciences. 20(24). 6124–6124. 19 indexed citations
12.
Puisac, Beatriz, Íñigo Marcos‐Alcalde, Bernd Schwahn, et al.. (2018). Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients. International Journal of Molecular Sciences. 19(4). 1010–1010. 23 indexed citations
13.
Puisac, Beatriz, Torkild Visnes, Christopher Bot, et al.. (2017). mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome. International Journal of Molecular Sciences. 18(3). 481–481. 3 indexed citations
14.
Puisac, Beatriz, et al.. (2017). Síndrome de Cornelia de Lange: incidencia de cardiopatía congénita en 149 pacientes. Medicina Clínica. 149(7). 300–302. 10 indexed citations
15.
Marcos‐Alcalde, Íñigo, Jesús I. Mendieta‐Moreno, Beatriz Puisac, et al.. (2017). Two-step ATP-driven opening of cohesin head. Scientific Reports. 7(1). 3266–3266. 21 indexed citations
16.
Du, Likun, Torkild Visnes, Andrea Björkman, et al.. (2013). A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination. The Journal of Experimental Medicine. 210(12). 2503–2513. 29 indexed citations
17.
Puisac, Beatriz, María Arnedo, María Concepción Gil‐Rodríguez, et al.. (2013). Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency. Molecular Genetics and Metabolism. 108(4). 232–240. 8 indexed citations
18.
Menao, Sebastián, María Arnedo, Beatriz Puisac, et al.. (2013). New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. European Journal of Medical Genetics. 56(8). 411–415. 24 indexed citations
19.
Carrasco, Patricia, Sebastián Menao, Eduardo López‐Viñas, et al.. (2007). C-Terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity. Molecular Genetics and Metabolism. 91(2). 120–127. 6 indexed citations
20.
López‐Viñas, Eduardo, Rosa Aledo, Beatriz Puisac, et al.. (2006). A single‐residue mutation, G203E, causes 3‐hydroxy‐3‐methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG‐CoA lyase. Journal of Inherited Metabolic Disease. 29(1). 64–70. 5 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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