Gerarda Cappuccio

2.6k total citations
59 papers, 611 citations indexed

About

Gerarda Cappuccio is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Gerarda Cappuccio has authored 59 papers receiving a total of 611 indexed citations (citations by other indexed papers that have themselves been cited), including 37 papers in Genetics, 34 papers in Molecular Biology and 7 papers in Surgery. Recurrent topics in Gerarda Cappuccio's work include Genetics and Neurodevelopmental Disorders (17 papers), Genomics and Rare Diseases (11 papers) and Genomic variations and chromosomal abnormalities (11 papers). Gerarda Cappuccio is often cited by papers focused on Genetics and Neurodevelopmental Disorders (17 papers), Genomics and Rare Diseases (11 papers) and Genomic variations and chromosomal abnormalities (11 papers). Gerarda Cappuccio collaborates with scholars based in Italy, United States and United Kingdom. Gerarda Cappuccio's co-authors include Nicola Brunetti‐Pierri, Michele Pinelli, Daniela Melis, Lucio Nitsch, Generoso Andria, Rita Genesio, Ennio Del Giudice, Taraka Donti, Vincenzo Nigro and Annalaura Torella and has published in prestigious journals such as Journal of Clinical Investigation, PLoS ONE and The Journal of Clinical Endocrinology & Metabolism.

In The Last Decade

Gerarda Cappuccio

56 papers receiving 583 citations

Peers

Gerarda Cappuccio

GENET

SURGE

PPCH

Yaping Yang United States

Maja Hempel Germany

Estelle Colin France

Marion Gérard France

Katharina Steindl Switzerland

Tadashi Kaname Japan

Pascal Joset Switzerland

Raúl Sanz Spain

K N Harikrishnan Australia

Morad Khayat Israel

Yaping Yang United States

Gerarda Cappuccio

322 ×0.9

292 ×1.0

GENET

76 ×1.0

39 ×0.6

SURGE

84 ×1.5

PPCH

Citations per year, relative to Gerarda Cappuccio Gerarda Cappuccio (= 1×) peers Yaping Yang

Countries citing papers authored by Gerarda Cappuccio

Since Specialization

Citations

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

Fields of papers citing papers by Gerarda Cappuccio

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Gerarda Cappuccio

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

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

Nardecchia, Francesca, Gerarda Cappuccio, S. Rahman, et al.. (2025). Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18). Human Mutation. 2025(1). 3531508–3531508.

Cappuccio, Gerarda, et al.. (2025). MetaboLINK is a novel algorithm for unveiling cell-specific metabolic pathways in longitudinal datasets. Frontiers in Neuroscience. 18. 1520982–1520982. 1 indexed citations

Wang, Huilun, Xiaoqiong Wei, Gerarda Cappuccio, et al.. (2023). Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders. Journal of Clinical Investigation. 134(2). 16 indexed citations

Cappuccio, Gerarda, Claudia M.B. Carvalho, Aleksandar Bajić, et al.. (2023). Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome. Stem Cell Research. 74. 103292–103292.

Cappuccio, Gerarda, et al.. (2023). Mass spectrometry imaging as an emerging tool for studying metabolism in human brain organoids. Frontiers in Molecular Biosciences. 10. 1181965–1181965. 12 indexed citations

Taylor, James R., Antonio Vitobello, Christophe Philippe, et al.. (2022). Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American Journal of Medical Genetics Part A. 188(5). 1497–1514. 12 indexed citations

Cappuccio, Gerarda, Iris Scala, Michele Pinelli, et al.. (2022). Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder. American Journal of Medical Genetics Part A. 188(10). 3032–3040. 3 indexed citations

Maitz, Silvia, Mariasavina Severino, Gerarda Cappuccio, et al.. (2021). Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature. European Journal of Medical Genetics. 65(1). 104380–104380. 4 indexed citations

Schenkel, Laila C., Erfan Aref‐Eshghi, Kathleen Rooney, et al.. (2021). DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome. Clinical Epigenetics. 13(1). 2–2. 21 indexed citations

10.

Cappuccio, Gerarda, et al.. (2020). A systematic cross-sectional survey of multiple sulfatase deficiency. Molecular Genetics and Metabolism. 130(4). 283–288. 10 indexed citations

11.

Cappuccio, Gerarda, et al.. (2020). Two cases of 16q12.1q21 deletions and refinement of the critical region. European Journal of Medical Genetics. 63(6). 103878–103878. 1 indexed citations

12.

Scala, Marcello, Annalaura Torella, Mariasavina Severino, et al.. (2019). Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. European Journal of Human Genetics. 27(8). 1254–1259. 36 indexed citations

13.

Cappuccio, Gerarda, Paldeep S. Atwal, Taraka Donti, et al.. (2016). Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. JIMD Reports. 35. 33–37. 6 indexed citations

14.

Terrone, Gaetano, Norine Voisin, Ali Abdullah Alfaiz, et al.. (2016). De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. European Journal of Human Genetics. 24(9). 1359–1362. 17 indexed citations

15.

Donti, Taraka, Gerarda Cappuccio, Leroy Hubert, et al.. (2016). Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Molecular Genetics and Metabolism Reports. 8. 61–66. 49 indexed citations

16.

Fontana, Paolo, Rita Genesio, Alberto Casertano, et al.. (2014). Loeys–Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. Gene. 538(1). 69–73. 13 indexed citations

17.

Cappuccio, Gerarda, Alessandro Rossi, Paolo Fontana, et al.. (2014). Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene. BMC Medical Genetics. 15(1). 15–15. 5 indexed citations

18.

Cappuccio, Gerarda, Rita Genesio, Alberto Casertano, et al.. (2013). Complex chromosomal rearrangements causing Langer–Giedion syndrome atypical phenotype: Genotype–phenotype correlation and literature review. American Journal of Medical Genetics Part A. 164(3). 753–759. 10 indexed citations

19.

Melis, Daniela, Rita Genesio, Ennio Del Giudice, et al.. (2012). Clinical description of a patient carrying the smallest reported deletion involving 10p14 region. American Journal of Medical Genetics Part A. 158A(4). 832–835. 34 indexed citations

20.

Cappuccio, Gerarda, Nicola Brunetti‐Pierri, Gaetano Terrone, et al.. (2012). Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy. JIMD Reports. 9. 113–116. 4 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.

Explore authors with similar magnitude of impact