Chiara Bacchelli

5.5k total citations
26 papers, 1.3k citations indexed

About

Chiara Bacchelli is a scholar working on Genetics, Molecular Biology and Immunology. According to data from OpenAlex, Chiara Bacchelli has authored 26 papers receiving a total of 1.3k indexed citations (citations by other indexed papers that have themselves been cited), including 16 papers in Genetics, 8 papers in Molecular Biology and 7 papers in Immunology. Recurrent topics in Chiara Bacchelli's work include Immunodeficiency and Autoimmune Disorders (6 papers), Genetic and Kidney Cyst Diseases (5 papers) and Genomics and Rare Diseases (4 papers). Chiara Bacchelli is often cited by papers focused on Immunodeficiency and Autoimmune Disorders (6 papers), Genetic and Kidney Cyst Diseases (5 papers) and Genomics and Rare Diseases (4 papers). Chiara Bacchelli collaborates with scholars based in United Kingdom, United States and Germany. Chiara Bacchelli's co-authors include Philip L. Beales, Janna Kenny, Elizabeth Forsythe, Peter Scambler, Louise Ocaka, Hywel Williams, H. Bobby Gaspar, Douglas P. Mortlock, Frances R. Goodman and Adrian J. Thrasher and has published in prestigious journals such as Nature Genetics, The Journal of Clinical Endocrinology & Metabolism and Journal of Allergy and Clinical Immunology.

In The Last Decade

Chiara Bacchelli

26 papers receiving 1.2k citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Chiara Bacchelli United Kingdom 18 770 679 223 108 98 26 1.3k
Mona Aglan Egypt 22 992 1.3× 802 1.2× 79 0.4× 111 1.0× 82 0.8× 70 1.6k
Seval Türkmen Germany 17 474 0.6× 752 1.1× 87 0.4× 83 0.8× 58 0.6× 36 1.3k
Stavit A. Shalev Israel 19 416 0.5× 519 0.8× 107 0.5× 84 0.8× 107 1.1× 44 962
Thomas C. Gebuhr United States 11 376 0.5× 1.4k 2.1× 83 0.4× 66 0.6× 63 0.6× 12 1.5k
Andreas Dufke Germany 22 865 1.1× 695 1.0× 92 0.4× 351 3.3× 83 0.8× 60 1.4k
Anas M. Alazami Saudi Arabia 22 584 0.8× 857 1.3× 147 0.7× 128 1.2× 95 1.0× 55 1.5k
Elisabeth Flori France 20 920 1.2× 1.0k 1.5× 220 1.0× 344 3.2× 154 1.6× 44 1.9k
Jeroen Knijnenburg Netherlands 22 578 0.8× 473 0.7× 165 0.7× 201 1.9× 81 0.8× 47 1.4k
Loydie A. Jerome‐Majewska Canada 17 319 0.4× 979 1.4× 60 0.3× 144 1.3× 105 1.1× 40 1.3k
Marat Gorivodsky Israel 17 322 0.4× 806 1.2× 261 1.2× 79 0.7× 88 0.9× 25 1.2k

Countries citing papers authored by Chiara Bacchelli

Since Specialization
Citations

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

Fields of papers citing papers by Chiara Bacchelli

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Chiara Bacchelli

This figure shows the co-authorship network connecting the top 25 collaborators of Chiara Bacchelli. A scholar is included among the top collaborators of Chiara Bacchelli 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 Chiara Bacchelli. Chiara Bacchelli 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.
McGlacken‐Byrne, Sinead, Polona Le Quesne Stabej, Ignacio del Valle, et al.. (2021). ZSWIM7Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency. The Journal of Clinical Endocrinology & Metabolism. 107(1). e254–e263. 20 indexed citations
2.
Gagunashvili, Andrey, Louise Ocaka, Daniel Kelberman, et al.. (2019). Novel missense variants in the RNF213 gene from a European family with Moyamoya disease. Human Genome Variation. 6(1). 35–35. 10 indexed citations
3.
Mestek, Lamia, Emma Clement, Wendy D. Jones, et al.. (2018). Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. Journal of Medical Genetics. 55(11). 721–728. 89 indexed citations
4.
Forsythe, Elizabeth, Janna Kenny, Chiara Bacchelli, & Philip L. Beales. (2018). Managing Bardet–Biedl Syndrome—Now and in the Future. Frontiers in Pediatrics. 6. 23–23. 148 indexed citations
5.
Antony, Dinu, Narayanan Nampoory, Chiara Bacchelli, et al.. (2017). Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. European Journal of Medical Genetics. 60(12). 658–666. 10 indexed citations
6.
Munye, Mustafa M., Anna Dı́az-Font, Louise Ocaka, et al.. (2017). COLEC10 is mutated in 3MC patients and regulates early craniofacial development. PLoS Genetics. 13(3). e1006679–e1006679. 60 indexed citations
7.
Kenny, Janna, Elizabeth Forsythe, Philip L. Beales, & Chiara Bacchelli. (2017). Toward Personalized Medicine in Bardet–Biedl Syndrome. Personalized Medicine. 14(5). 447–456. 20 indexed citations
8.
Bacchelli, Chiara & Hywel Williams. (2016). Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. Expert Review of Molecular Diagnostics. 16(10). 1073–1082. 22 indexed citations
9.
Bacchelli, Chiara, Federico A. Moretti, Marlene Carmo, et al.. (2016). Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency. Journal of Allergy and Clinical Immunology. 139(2). 634–642.e5. 31 indexed citations
10.
Stabej, Polona Le Quesne, Hywel Williams, Chela James, et al.. (2015). STAG3 truncating variant as the cause of primary ovarian insufficiency. European Journal of Human Genetics. 24(1). 135–138. 42 indexed citations
11.
Williams, Hywel, John R. Hurst, Louise Ocaka, et al.. (2015). The use of whole-exome sequencing to disentangle complex phenotypes. European Journal of Human Genetics. 24(2). 298–301. 11 indexed citations
12.
Ip, Winnie, H. Bobby Gaspar, Robert Kleta, et al.. (2015). Variable Phenotype of Severe Immunodeficiencies Associated with RMRP Gene Mutations. Journal of Clinical Immunology. 35(2). 147–157. 12 indexed citations
13.
Reid, Emma, Hywel Williams, Polona Le Quesne Stabej, et al.. (2015). Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6. JIMD Reports. 27. 79–84. 19 indexed citations
14.
Kelberman, Daniel, Lily Islam, Jörn Lakowski, et al.. (2014). Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Human Molecular Genetics. 23(10). 2511–2526. 37 indexed citations
15.
Karda, Rajvinder, Suzanne M. K. Buckley, Citra Nurfarah Zaini Mattar, et al.. (2014). Perinatal systemic gene delivery using adeno-associated viral vectors. Frontiers in Molecular Neuroscience. 7. 89–89. 17 indexed citations
16.
Bacchelli, Chiara, Karen Buckland, Sylvie Buckridge, et al.. (2011). The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice. Journal of Allergy and Clinical Immunology. 127(5). 1253–1259.e13. 23 indexed citations
17.
Beales, Philip L., Jonathan L. Tobin, Chiara Bacchelli, et al.. (2007). IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature Genetics. 39(6). 727–729. 227 indexed citations
18.
Salzer, Ulrich, Jennifer Birmelin, Chiara Bacchelli, et al.. (2007). Sequence Analysis of TNFRSF13b, Encoding TACI, in Patients with Systemic Lupus Erythematosus. Journal of Clinical Immunology. 27(4). 372–377. 18 indexed citations
19.
Innis, Jeffrey W., Frances R. Goodman, Chiara Bacchelli, et al.. (2002). AHOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Human Mutation. 19(5). 573–574. 53 indexed citations
20.
Goodman, Frances R., Chiara Bacchelli, Angela F. Brady, et al.. (2000). Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome. The American Journal of Human Genetics. 67(1). 197–202. 189 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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