Emanuela Ponzi

466 total citations
14 papers, 182 citations indexed

About

Emanuela Ponzi is a scholar working on Genetics, Molecular Biology and Clinical Biochemistry. According to data from OpenAlex, Emanuela Ponzi has authored 14 papers receiving a total of 182 indexed citations (citations by other indexed papers that have themselves been cited), including 9 papers in Genetics, 7 papers in Molecular Biology and 3 papers in Clinical Biochemistry. Recurrent topics in Emanuela Ponzi's work include Genetics and Neurodevelopmental Disorders (5 papers), Genomic variations and chromosomal abnormalities (5 papers) and Metabolism and Genetic Disorders (3 papers). Emanuela Ponzi is often cited by papers focused on Genetics and Neurodevelopmental Disorders (5 papers), Genomic variations and chromosomal abnormalities (5 papers) and Metabolism and Genetic Disorders (3 papers). Emanuela Ponzi collaborates with scholars based in Italy, United States and Austria. Emanuela Ponzi's co-authors include Marcella Zollino, Giovanni Neri, Giuseppe Gobbi, Carlo Dionisi‐Vici, Giuseppe Fiermonte, Diego Martinelli, Sara Boenzi, Daria Diodato, Enrico Bertini and Magnus Monné and has published in prestigious journals such as Nature Communications, Human Molecular Genetics and The Journal of Pediatrics.

In The Last Decade

Emanuela Ponzi

12 papers receiving 168 citations

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Emanuela Ponzi Italy	7	93	87	49	25	22	14	182
Naomi Meeks United States	8	50 0.5×	86 1.0×	64 1.3×	13 0.5×	36 1.6×	16	169
Allison Matthews Canada	10	128 1.4×	165 1.9×	33 0.7×	11 0.4×	39 1.8×	14	254
Maria Kibæk Denmark	10	135 1.5×	163 1.9×	41 0.8×	8 0.3×	28 1.3×	14	277
Ilya Kanivets Russia	7	61 0.7×	91 1.0×	29 0.6×	10 0.4×	26 1.2×	39	162
Férechté Razavi France	8	53 0.6×	130 1.5×	20 0.4×	18 0.7×	35 1.6×	15	194
Jūratė Kasnauskienė Lithuania	9	91 1.0×	104 1.2×	30 0.6×	15 0.6×	22 1.0×	16	160
Claudia Soler‐Alfonso United States	12	135 1.5×	197 2.3×	129 2.6×	55 2.2×	33 1.5×	21	333
Ghunwa Nakouzi United States	8	56 0.6×	103 1.2×	63 1.3×	25 1.0×	17 0.8×	15	180
Margit Nõukas Estonia	9	111 1.2×	104 1.2×	31 0.6×	4 0.2×	30 1.4×	16	216
Dmitriy Niyazov United States	7	99 1.1×	140 1.6×	37 0.8×	13 0.5×	7 0.3×	8	208

Countries citing papers authored by Emanuela Ponzi

Since Specialization

Citations

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

Fields of papers citing papers by Emanuela Ponzi

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Emanuela Ponzi

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

All Works

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14 of 14 papers shown

Ponzi, Emanuela, et al.. (2026). Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. Pediatric Reports. 18(1). 14–14.

Palumbi, Roberto, et al.. (2024). Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature. Frontiers in Genetics. 15. 1429185–1429185. 2 indexed citations

Glaser, Juliane, Robert Schöpflin, Cesar A. Prada‐Medina, et al.. (2023). Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature Communications. 14(1). 1475–1475. 16 indexed citations

Mignogna, Maria Lidia, Romina Ficarella, Lucia Marzulli, et al.. (2021). Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model. Human Molecular Genetics. 31(9). 1389–1406. 4 indexed citations

Cellamare, Angelo, Nicoletta Coccaro, Paola Casieri, et al.. (2021). Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12. Genes. 12(6). 877–877.

Gentile, Mattia, Daria Carmela Loconte, Emanuela Ponzi, et al.. (2020). Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects. Clinical Genetics. 99(3). 425–429. 2 indexed citations

Ponzi, Emanuela, Mattia Gentile, Emanuele Agolini, et al.. (2020). 14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies. Molecular Genetics & Genomic Medicine. 8(7). e1289–e1289. 3 indexed citations

Ponzi, Emanuela, Viola Alesi, Francesca Romana Lepri, et al.. (2019). Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation. Molecular Genetics & Genomic Medicine. 7(5). e634–e634. 6 indexed citations

Ponzi, Emanuela, Arianna Maiorana, Francesca Romana Lepri, et al.. (2018). Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism. The Journal of Pediatrics. 202. 272–278.e4. 13 indexed citations

10.

Gentile, Mattia, Emanuele Agolini, Dario Cocciadiferro, et al.. (2018). Novel exostosin‐2 missense variants in a family with autosomal recessive exostosin‐2‐related syndrome: further evidences on the phenotype. Clinical Genetics. 95(1). 165–171. 2 indexed citations

11.

Cafiero, Concetta, Giuseppe Marangi, Daniela Orteschi, et al.. (2015). Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. European Journal of Human Genetics. 23(11). 1499–1504. 30 indexed citations

12.

Ponzi, Emanuela, et al.. (2015). Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. European Journal of Medical Genetics. 58(8). 400–405. 6 indexed citations

13.

Martinelli, Diego, Daria Diodato, Emanuela Ponzi, et al.. (2015). The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome. Orphanet Journal of Rare Diseases. 10(1). 29–29. 55 indexed citations

14.

Zollino, Marcella, Emanuela Ponzi, Giuseppe Gobbi, & Giovanni Neri. (2012). The ring 14 syndrome. European Journal of Medical Genetics. 55(5). 374–380. 43 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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