Fernando Santos‐Simarro

4.8k total citations
50 papers, 470 citations indexed

About

Fernando Santos‐Simarro is a scholar working on Molecular Biology, Genetics and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Fernando Santos‐Simarro has authored 50 papers receiving a total of 470 indexed citations (citations by other indexed papers that have themselves been cited), including 27 papers in Molecular Biology, 23 papers in Genetics and 8 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Fernando Santos‐Simarro's work include Genomic variations and chromosomal abnormalities (10 papers), Genomics and Rare Diseases (7 papers) and RNA modifications and cancer (6 papers). Fernando Santos‐Simarro is often cited by papers focused on Genomic variations and chromosomal abnormalities (10 papers), Genomics and Rare Diseases (7 papers) and RNA modifications and cancer (6 papers). Fernando Santos‐Simarro collaborates with scholars based in Spain, United States and Argentina. Fernando Santos‐Simarro's co-authors include Sixto García‐Miñáur, Pablo Lapunzina, Ángela del Pozo, Elena Vallespín, María Palomares‐Bralo, Karen E. Heath, Verónica Seidel, Rebeca Rodríguez Pena, María Bravo García‐Morato and Eduardo López‐Granados and has published in prestigious journals such as SHILAP Revista de lepidopterología, International Journal of Molecular Sciences and The American Journal of Human Genetics.

In The Last Decade

Fernando Santos‐Simarro

47 papers receiving 464 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Fernando Santos‐Simarro Spain 14 262 234 48 42 36 50 470
Ender Karaca Türkiye 13 265 1.0× 247 1.1× 37 0.8× 22 0.5× 41 1.1× 25 544
Shelagh Joss United Kingdom 13 303 1.2× 169 0.7× 63 1.3× 22 0.5× 37 1.0× 19 452
Elisa Tassano Italy 15 310 1.2× 272 1.2× 21 0.4× 47 1.1× 85 2.4× 54 596
Irina Balikova Belgium 12 179 0.7× 243 1.0× 26 0.5× 53 1.3× 36 1.0× 30 392
Marie‐Ange Delrue France 15 291 1.1× 258 1.1× 33 0.7× 31 0.7× 106 2.9× 30 590
Joanna Wiszniewska United States 12 348 1.3× 360 1.5× 28 0.6× 43 1.0× 25 0.7× 22 607
Olga Jarinova Canada 10 439 1.7× 300 1.3× 52 1.1× 13 0.3× 53 1.5× 19 695
Marjan M. Nezarati Canada 10 232 0.9× 198 0.8× 43 0.9× 36 0.9× 57 1.6× 17 447
Nina Bögershausen Germany 11 280 1.1× 234 1.0× 32 0.7× 50 1.2× 28 0.8× 13 444
Samantha A. Schrier Vergano United States 18 451 1.7× 331 1.4× 45 0.9× 40 1.0× 47 1.3× 52 736

Countries citing papers authored by Fernando Santos‐Simarro

Since Specialization
Citations

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

Fields of papers citing papers by Fernando Santos‐Simarro

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Fernando Santos‐Simarro. 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 Fernando Santos‐Simarro. The network helps show where Fernando Santos‐Simarro may publish in the future.

Co-authorship network of co-authors of Fernando Santos‐Simarro

This figure shows the co-authorship network connecting the top 25 collaborators of Fernando Santos‐Simarro. A scholar is included among the top collaborators of Fernando Santos‐Simarro 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 Fernando Santos‐Simarro. Fernando Santos‐Simarro 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.
Abulí, Anna, Juan José Guillén, Joaquı́n Rueda, et al.. (2024). Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD. European Journal of Human Genetics. 33(4). 402–412.
2.
Pozo, Ángela del, et al.. (2023). OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population. Current Issues in Molecular Biology. 45(1). 465–478. 3 indexed citations
3.
Fortuny, Elena, Jaume Pons, Rafael Ramos, et al.. (2023). NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported. International Journal of Molecular Sciences. 24(10). 8644–8644. 5 indexed citations
4.
Carcavilla, Atilano, José L. Santomé, Verónica Seidel, et al.. (2023). Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment. Journal of Clinical Medicine. 12(15). 5003–5003. 3 indexed citations
5.
6.
Arias, Pedro, et al.. (2023). Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder. Clinical Genetics. 105(2). 140–149. 2 indexed citations
7.
Regojo, Rita María, et al.. (2022). Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis. Pediatric and Developmental Pathology. 26(2). 138–143. 1 indexed citations
8.
García‐Morato, María Bravo, et al.. (2021). Hypomorphic variant in TRNT1 induces a milder autoinflammatory disease with congenital cataracts and impaired sexual development. Lara D. Veeken. 61(5). e114–e116. 1 indexed citations
9.
Illescas, T., Elena Mansilla, Beatriz Herrero, et al.. (2020). Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain. European Journal of Obstetrics & Gynecology and Reproductive Biology. 250. 209–215. 5 indexed citations
10.
Santos‐Simarro, Fernando, et al.. (2020). Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. Pediatric Dermatology. 37(3). 517–519. 10 indexed citations
11.
Parrón, Manuel, Gaspar González‐Morán, Ángela del Pozo, et al.. (2020). Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature. American Journal of Medical Genetics Part A. 185(3). 856–865. 8 indexed citations
12.
Thiffault, Isabelle, Laura Cross, Shivarajan Amudhavalli, et al.. (2019). MAGEL2 ‐related disorders: A study and case series. Clinical Genetics. 96(6). 493–505. 27 indexed citations
13.
Angius, Andrea, Paolo Uva, Manuela Oppo, et al.. (2019). Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Clinical Genetics. 95(5). 607–614. 9 indexed citations
14.
Bauer, Christiane K., Fanny Kortüm, Janine Altmüller, et al.. (2019). Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. The American Journal of Human Genetics. 104(6). 1139–1157. 40 indexed citations
15.
López, María, et al.. (2018). Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum. BMC Medical Genetics. 19(1). 36–36. 27 indexed citations
16.
Gordo, Gema, Jair Tenorio, Pedro Arias, et al.. (2017). mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review. Clinical Genetics. 93(4). 762–775. 29 indexed citations
17.
Aza‐Carmona, Miriam, Elena Vallespín, Min Lu, et al.. (2017). FGF9 mutation causes craniosynostosis along with multiple synostoses. Human Mutation. 38(11). 1471–1476. 23 indexed citations
18.
Fernández, Luís, Jair Tenorio, Elena Vallespín, et al.. (2017). In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype. Revista Española de Cardiología (English Edition). 71(7). 545–552. 4 indexed citations
19.
Eckhold, Juliane, Beatriz Puisac, Andreas Dalski, et al.. (2014). Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome. International Journal of Molecular Sciences. 15(6). 10350–10364. 18 indexed citations
20.
Delicado, Alicia, Luís Fernández, María Torres, et al.. (2014). Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier. BMC Medical Genetics. 15(1). 116–116. 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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