Diana Johnson

4.1k total citations
26 papers, 772 citations indexed

About

Diana Johnson is a scholar working on Genetics, Molecular Biology and Oncology. According to data from OpenAlex, Diana Johnson has authored 26 papers receiving a total of 772 indexed citations (citations by other indexed papers that have themselves been cited), including 24 papers in Genetics, 11 papers in Molecular Biology and 4 papers in Oncology. Recurrent topics in Diana Johnson's work include Connective tissue disorders research (11 papers), Genomics and Rare Diseases (9 papers) and Genomic variations and chromosomal abnormalities (8 papers). Diana Johnson is often cited by papers focused on Connective tissue disorders research (11 papers), Genomics and Rare Diseases (9 papers) and Genomic variations and chromosomal abnormalities (8 papers). Diana Johnson collaborates with scholars based in United Kingdom, Germany and Canada. Diana Johnson's co-authors include Nigel Wheeldon, Melanie Pepin, James H. Black, Peter H. Byers, Michael Frank, Xavier Jeunemaı̂tre, Leema Robert, Julie De Backer, John W. Belmont and Martin Zenker and has published in prestigious journals such as Genome Research, The American Journal of Human Genetics and Human Molecular Genetics.

In The Last Decade

Diana Johnson

25 papers receiving 745 citations

Peers

Diana Johnson

GENET

SURGE

PRM

Gülen Eda Ütine Türkiye

Anita Wischmeijer Italy

Boris Keren France

Maria Lisa Dentici Italy

Katherine Holman Australia

Rossella Capolino Italy

Pelin Özlem Şimşek‐Kiper Türkiye

Monkol Lek United States

Rodger Palmer United Kingdom

Chantal Missirian France

Gülen Eda Ütine Türkiye

Diana Johnson

373 ×0.7

GENET

367 ×1.1

54 ×0.6

66 ×0.8

SURGE

71 ×0.9

PRM

Citations per year, relative to Diana Johnson Diana Johnson (= 1×) peers Gülen Eda Ütine

Countries citing papers authored by Diana Johnson

Since Specialization

Citations

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

Fields of papers citing papers by Diana Johnson

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Diana Johnson

This figure shows the co-authorship network connecting the top 25 collaborators of Diana Johnson. A scholar is included among the top collaborators of Diana Johnson 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 Diana Johnson. Diana Johnson 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

Albaba, Shadi, Glenda Sobey, Jessica Bowen, et al.. (2025). Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome. European Journal of Human Genetics. 33(10). 1309–1315.

Bowen, Jessica, Mónica Hernández Alava, Diana Johnson, et al.. (2023). Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield. European Journal of Human Genetics. 31(7). 749–760. 21 indexed citations

Calpena, Eduardo, Simon J. McGowan, Fiona Blanco‐Kelly, et al.. (2021). Dissection of contiguous gene effects for deletions around ERF on chromosome 19. Human Mutation. 42(7). 811–817. 2 indexed citations

Ghali, Neeti, Duncan Baker, Jessica Bowen, et al.. (2020). Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility. Genetics in Medicine. 22(10). 1576–1582. 17 indexed citations

Ghali, Neeti, Duncan Baker, Angela F. Brady, et al.. (2020). Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome. American Journal of Medical Genetics Part A. 182(5). 994–1007. 14 indexed citations

Kapferer‐Seebacher, Ines, Diana Johnson, Neeti Ghali, et al.. (2020). Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature. Genetics in Medicine. 23(2). 316–322. 16 indexed citations

Balasubramanian, Meena & Diana Johnson. (2018). MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. European Journal of Medical Genetics. 62(2). 109–114. 11 indexed citations

Byers, Peter H., John W. Belmont, James H. Black, et al.. (2017). Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome. American Journal of Medical Genetics Part C Seminars in Medical Genetics. 175(1). 40–47. 221 indexed citations

Laskowski, Roman A., Nidhi Tyagi, Diana Johnson, et al.. (2016). Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. Human Molecular Genetics. 25(5). 927–935. 19 indexed citations

10.

Balasubramanian, Meena, Helen Lord, Sébastien Levesque, et al.. (2016). Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of Medical Genetics. 54(3). 157–165. 15 indexed citations

11.

Carvalho, Claudia M.B., Rolph Pfundt, Daniel A. King, et al.. (2015). Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements. The American Journal of Human Genetics. 96(4). 555–564. 42 indexed citations

12.

Foulds, Nicola, Diana Johnson, Louise C. Wilson, et al.. (2015). Association of mutations in FLNA with craniosynostosis. European Journal of Human Genetics. 23(12). 1684–1688. 7 indexed citations

13.

Kim, Ok‐Hwa, Christine M Hall, Amaka C Offiah, et al.. (2014). Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. American Journal of Medical Genetics Part A. 164(10). 2529–2534. 12 indexed citations

14.

Czeschik, Johanna Christina, Peter Bauer, Karin Buiting, et al.. (2013). X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. Orphanet Journal of Rare Diseases. 8(1). 146–146. 17 indexed citations

15.

King, Daniel A., Tomas Fitzgerald, Ray Miller, et al.. (2013). A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. Genome Research. 24(4). 673–687. 54 indexed citations

16.

Donnai, Dian, et al.. (2010). Cutaneous features in 17q21.31 deletion syndrome. Clinical Dysmorphology. 20(1). 15–20. 14 indexed citations

17.

Zweier, Markus, Anne Gregor, Christiane Zweier, et al.. (2010). Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human Mutation. 31(6). 722–733. 114 indexed citations

18.

Balasubramanian, Meena, Alan Sprigg, & Diana Johnson. (2010). IMAGe syndrome: Case report with a previously unreported feature and review of published literature. American Journal of Medical Genetics Part A. 152A(12). 3138–3142. 19 indexed citations

19.

Snape, Katie, Deborah Ruddy, Martin Zenker, et al.. (2009). The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. American Journal of Medical Genetics Part A. 149A(8). 1860–1881. 70 indexed citations

20.

Hinkle, Kenneth H., et al.. (1993). The triple symbiotic system CH Cygni. The Astronomical Journal. 105. 1074–1074. 37 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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