Berta Almoguera

3.9k total citations
36 papers, 511 citations indexed

About

Berta Almoguera is a scholar working on Genetics, Molecular Biology and Ophthalmology. According to data from OpenAlex, Berta Almoguera has authored 36 papers receiving a total of 511 indexed citations (citations by other indexed papers that have themselves been cited), including 19 papers in Genetics, 16 papers in Molecular Biology and 5 papers in Ophthalmology. Recurrent topics in Berta Almoguera's work include Genomics and Rare Diseases (9 papers), Genomic variations and chromosomal abnormalities (6 papers) and Retinal Development and Disorders (6 papers). Berta Almoguera is often cited by papers focused on Genomics and Rare Diseases (9 papers), Genomic variations and chromosomal abnormalities (6 papers) and Retinal Development and Disorders (6 papers). Berta Almoguera collaborates with scholars based in Spain, United States and Netherlands. Berta Almoguera's co-authors include Carmen Ayuso, Rosa Riveiro-Álvarez, Fiona Blanco‐Kelly, Håkon Håkonarson, Marta Cortón, Francisco Abad‐Santos, Almudena Ávila‐Fernández, Brendan J. Keating, Blanca Garcı́a-Sandoval and Pablo Mínguez and has published in prestigious journals such as PLoS ONE, Scientific Reports and International Journal of Molecular Sciences.

In The Last Decade

Berta Almoguera

34 papers receiving 505 citations

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Berta Almoguera Spain	16	248	179	71	45	42	36	511
Qi Tian China	12	223 0.9×	160 0.9×	72 1.0×	42 0.9×	91 2.2×	44	603
Julie M. Joyce Canada	10	176 0.7×	174 1.0×	102 1.4×	19 0.4×	88 2.1×	26	470
Imran H. Yusuf United Kingdom	15	273 1.1×	67 0.4×	479 6.7×	44 1.0×	64 1.5×	63	903
Banan Al‐Younes Saudi Arabia	12	222 0.9×	92 0.5×	29 0.4×	64 1.4×	16 0.4×	18	387
Geetha Anand United Kingdom	13	303 1.2×	105 0.6×	8 0.1×	17 0.4×	34 0.8×	34	565
Mehrnaz Narooie-Nejad Iran	8	82 0.3×	88 0.5×	90 1.3×	54 1.2×	19 0.5×	21	313
Yaqing Shu China	12	111 0.4×	48 0.3×	21 0.3×	99 2.2×	44 1.0×	38	515
Natalie Hauser United States	13	293 1.2×	228 1.3×	17 0.2×	20 0.4×	65 1.5×	26	562
J.L. Dufier France	12	208 0.8×	60 0.3×	184 2.6×	19 0.4×	44 1.0×	36	502

Countries citing papers authored by Berta Almoguera

Since Specialization

Citations

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

Fields of papers citing papers by Berta Almoguera

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Berta Almoguera

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

All Works

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20 of 20 papers shown

Low, Karen, Julia Foreman, Berta Almoguera, et al.. (2025). The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders. European Journal of Human Genetics. 34(3). 348–356.

Totten, Vicken Y., Gisela Teixidó‐Turà, Paula Fernández‐Álvarez, et al.. (2024). Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome. Journal of Medical Genetics. 61(9). 870–877. 1 indexed citations

D’Ambrosio, Luigi, et al.. (2024). A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1870(4). 167126–167126. 1 indexed citations

Martínez‐Granero, Francisco, Marta Rodríguez de Alba, Fiona Blanco‐Kelly, et al.. (2023). Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report. Clinical Genetics. 103(4). 448–452. 1 indexed citations

López‐Rodríguez, Rosario, Javier Ruiz‐Hornillos, Marta Cortón, et al.. (2022). Androgen receptor polyQ alleles and COVID‐19 severity in men: A replication study. Andrology. 11(1). 24–31. 3 indexed citations

Perea‐Romero, Irene, Lorena de la Fuente, Raquel Escutia Romero, et al.. (2022). Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies. International Journal of Molecular Sciences. 23(15). 8431–8431. 3 indexed citations

Arteche‐López, Ana, Berta Almoguera, Inmaculada Martín-Mérida, et al.. (2022). Five years’ experience of the clinical exome sequencing in a Spanish single center. Scientific Reports. 12(1). 19209–19209.

Arteche‐López, Ana, Raquel Escutia Romero, Rosa Riveiro-Álvarez, et al.. (2021). Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes. Scientific Reports. 11(1). 5697–5697. 37 indexed citations

Martínez‐Granero, Francisco, Fiona Blanco‐Kelly, C. Sánchez-Jimeno, et al.. (2021). Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders. npj Genomic Medicine. 6(1). 25–25. 23 indexed citations

10.

Ávila‐Fernández, Almudena, Ana Arteche‐López, María José Trujillo-Tiebas, et al.. (2021). Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies. npj Genomic Medicine. 6(1). 18–18. 21 indexed citations

11.

Glessner, Joseph, Jin Li, Melody R. Palmer, et al.. (2019). CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. International Journal of Cardiology. 298. 107–113. 6 indexed citations

12.

Almoguera, Berta, Lyam Vazquez, Frank Mentch, et al.. (2018). Novel locus for atopic dermatitis in African Americans and replication in European Americans. Journal of Allergy and Clinical Immunology. 143(3). 1229–1231. 8 indexed citations

13.

Martín-Mérida, Inmaculada, Rocío Sánchez-Alcudia, Patrícia José, et al.. (2017). Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement. Investigative Ophthalmology & Visual Science. 58(2). 1045–1045. 20 indexed citations

14.

Almoguera, Berta, Jiankang Li, Patrícia José, et al.. (2015). Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. PLoS ONE. 10(7). e0133624–e0133624. 16 indexed citations

15.

Almoguera, Berta, Lyam Vazquez, John J. Connolly, et al.. (2014). Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes. Frontiers in Genetics. 5. 96–96. 12 indexed citations

16.

Sleiman, Patrick, Jonathan P. Bradfield, Frank Mentch, et al.. (2014). Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts. Frontiers in Genetics. 5. 105–105. 3 indexed citations

17.

Connolly, John J., Joseph Glessner, Berta Almoguera, et al.. (2014). Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. Frontiers in Genetics. 5. 51–51. 7 indexed citations

18.

Cortón, Marta, Almudena Ávila‐Fernández, Elena Vallespín, et al.. (2013). Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population. Ophthalmology. 121(1). 399–407. 14 indexed citations

19.

Almoguera, Berta, Rosa Riveiro-Álvarez, Jorge López‐Castromán, et al.. (2012). Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population. The Pharmacogenomics Journal. 13(2). 197–204. 20 indexed citations

20.

Gallardo, M. Esther, Pablo García‐Pavía, Rodrigo Chamorro, et al.. (2011). Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients. European Heart Journal. 33(3). 346–353. 23 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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