Elisabeth Gabau

1.4k total citations
36 papers, 675 citations indexed

About

Elisabeth Gabau is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Elisabeth Gabau has authored 36 papers receiving a total of 675 indexed citations (citations by other indexed papers that have themselves been cited), including 30 papers in Genetics, 20 papers in Molecular Biology and 7 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Elisabeth Gabau's work include Genetics and Neurodevelopmental Disorders (15 papers), Genetic Syndromes and Imprinting (11 papers) and Genomic variations and chromosomal abnormalities (11 papers). Elisabeth Gabau is often cited by papers focused on Genetics and Neurodevelopmental Disorders (15 papers), Genetic Syndromes and Imprinting (11 papers) and Genomic variations and chromosomal abnormalities (11 papers). Elisabeth Gabau collaborates with scholars based in Spain, United Kingdom and United States. Elisabeth Gabau's co-authors include Míriam Guitart, Neus Baena, J. Egozcue, Joan Blanco, Francesca Vidal, Benjamín Rodríguez‐Santiago, Carme Brun i Gasca, Luis A. Pérez‐Jurado, Xavier Estivill and Susanna Esteba‐Castillo and has published in prestigious journals such as PLoS ONE, The American Journal of Human Genetics and The British Journal of Psychiatry.

In The Last Decade

Elisabeth Gabau

36 papers receiving 655 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Elisabeth Gabau Spain 16 463 336 128 103 45 36 675
Carolin Purmann United States 7 542 1.2× 419 1.2× 100 0.8× 144 1.4× 36 0.8× 10 843
Zöe Powis United States 15 562 1.2× 387 1.2× 115 0.9× 72 0.7× 21 0.5× 34 873
Marzia Pollazzon Italy 14 494 1.1× 368 1.1× 43 0.3× 143 1.4× 24 0.5× 31 692
Deborah Barbouth United States 11 412 0.9× 285 0.8× 85 0.7× 183 1.8× 14 0.3× 32 678
Megan T. Cho United States 20 462 1.0× 508 1.5× 65 0.5× 79 0.8× 17 0.4× 27 838
Marie‐Françoise Croquette France 7 714 1.5× 464 1.4× 79 0.6× 327 3.2× 15 0.3× 11 842
Keith W. Dunaway United States 16 410 0.9× 472 1.4× 85 0.7× 205 2.0× 25 0.6× 18 692
Tiia Reimand Estonia 13 291 0.6× 229 0.7× 97 0.8× 21 0.2× 20 0.4× 41 488
Nicholas R. Dennis United Kingdom 16 640 1.4× 368 1.1× 353 2.8× 206 2.0× 144 3.2× 23 1.0k

Countries citing papers authored by Elisabeth Gabau

Since Specialization
Citations

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

Fields of papers citing papers by Elisabeth Gabau

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Elisabeth Gabau

This figure shows the co-authorship network connecting the top 25 collaborators of Elisabeth Gabau. A scholar is included among the top collaborators of Elisabeth Gabau 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 Elisabeth Gabau. Elisabeth Gabau 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.
Spataro, Nino, Elisabeth Gabau, Juan Pablo Trujillo‐Quintero, et al.. (2024). Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome. Frontiers in Genetics. 15. 1291063–1291063. 1 indexed citations
2.
Spataro, Nino, Juan Pablo Trujillo‐Quintero, Elisabeth Gabau, et al.. (2023). High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders. Genes. 14(3). 708–708. 3 indexed citations
3.
Gabau, Elisabeth, Carme Brun i Gasca, Steven Laurie, et al.. (2021). New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. PLoS ONE. 16(10). e0258766–e0258766. 14 indexed citations
4.
Hümmer, Stefan, Elisabeth Gabau, Míriam Guitart, et al.. (2021). The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome. Frontiers in Neuroscience. 15. 618098–618098. 12 indexed citations
5.
Hoz, Ana B. de la, Olatz Villate, Isabel Llano‐Rivas, et al.. (2020). Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability. Genes. 11(1). 51–51. 18 indexed citations
6.
Blanco‐Hinojo, Laura, Jesús Pujol, Susanna Esteba‐Castillo, et al.. (2019). Lack of response to disgusting food in the hypothalamus and related structures in Prader Willi syndrome. NeuroImage Clinical. 21. 101662–101662. 18 indexed citations
7.
Parente, Daniel J., Stephanie M. Morris, Robert C. McKinstry, et al.. (2019). Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities. Clinical Genetics. 97(3). 437–446. 8 indexed citations
8.
Esteba‐Castillo, Susanna, Neus Baena, Anna Ruiz, et al.. (2018). High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders. Behavior Genetics. 48(4). 323–336. 16 indexed citations
9.
Álvarez‐Mora, María Isabel, Míriam Guitart, Laia Rodríguez‐Revenga, et al.. (2017). Paternal transmission of a FMR1 full mutation allele. American Journal of Medical Genetics Part A. 173(10). 2795–2797. 12 indexed citations
10.
Baena, Neus, Elisabeth Gabau, Adrijan Sarajlija, et al.. (2017). Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. BMC Medical Genetics. 18(1). 137–137. 5 indexed citations
11.
Caixàs, Assumpta, et al.. (2017). Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome. American Journal of Case Reports. 18. 637–640. 4 indexed citations
12.
Bueno, Marta, Susanna Esteba‐Castillo, Ramón Novell, et al.. (2016). Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome. PLoS ONE. 11(9). e0163468–e0163468. 24 indexed citations
13.
Colobrán, Roger, Clara Franco‐Jarava, Andrea Martín‐Nalda, et al.. (2016). Novel Mutations Causing C5 Deficiency in Three North-African Families. Journal of Clinical Immunology. 36(4). 388–396. 7 indexed citations
14.
Gasca, Carme Brun i, J. Obiols, Albert Bonillo, et al.. (2010). Adaptive behaviour in Angelman syndrome: its profile and relationship to age. Journal of Intellectual Disability Research. 54(11). 1024–1029. 16 indexed citations
15.
Armengol, Lluı́s, Damián Heine‐Suñer, Jordi Rosell, et al.. (2009). BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Medical Genetics. 10(1). 144–144. 26 indexed citations
16.
Gabau, Elisabeth, et al.. (2006). Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. American Journal of Medical Genetics Part A. 140A(22). 2426–2432. 35 indexed citations
17.
Camprubí, Cristina, Sergi Villatoro, Elisabeth Gabau, et al.. (2006). Imprinting center analysis in Prader–Willi and Angelman syndrome patients with typical and atypical phenotypes. European Journal of Medical Genetics. 50(1). 11–20. 27 indexed citations
18.
Caballı́n, M.R., et al.. (2005). Characterization of six marker chromosomes by comparative genomic hybridization. American Journal of Medical Genetics Part A. 136A(2). 169–174. 2 indexed citations
19.
Blanco, Joan, Elisabeth Gabau, Neus Baena, et al.. (1998). Chromosome 21 Disomy in the Spermatozoa of the Fathers of Children with Trisomy 21, in a Population with a High Prevalence of Down Syndrome: Increased Incidence in Cases of Paternal Origin. The American Journal of Human Genetics. 63(4). 1067–1072. 88 indexed citations
20.
Carbonell, Pablo, et al.. (1996). FRAXE mutation analysis in three spanish families. American Journal of Medical Genetics. 64(2). 434–440. 20 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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