Katherine Schon

4.3k total citations
23 papers, 510 citations indexed

About

Katherine Schon is a scholar working on Molecular Biology, Genetics and Clinical Biochemistry. According to data from OpenAlex, Katherine Schon has authored 23 papers receiving a total of 510 indexed citations (citations by other indexed papers that have themselves been cited), including 12 papers in Molecular Biology, 11 papers in Genetics and 6 papers in Clinical Biochemistry. Recurrent topics in Katherine Schon's work include Mitochondrial Function and Pathology (8 papers), Genomics and Rare Diseases (6 papers) and Metabolism and Genetic Disorders (6 papers). Katherine Schon is often cited by papers focused on Mitochondrial Function and Pathology (8 papers), Genomics and Rare Diseases (6 papers) and Metabolism and Genetic Disorders (6 papers). Katherine Schon collaborates with scholars based in United Kingdom, Spain and Portugal. Katherine Schon's co-authors include Marc Tischkowitz, Patrick F. Chinnery, Wei Wei, Rita Horváth, Thiloka Ratnaike, Jelle van den Ameele, Mark J. Caulfield, Andrea Orioli, Adam Giess and Greg Elgar and has published in prestigious journals such as Nature, Nucleic Acids Research and Nature Genetics.

In The Last Decade

Katherine Schon

22 papers receiving 503 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Katherine Schon United Kingdom 9 371 126 103 91 64 23 510
Claudia Calabrese Italy 13 557 1.5× 146 1.2× 164 1.6× 117 1.3× 30 0.5× 16 680
Luke C. Gandolfo Australia 12 267 0.7× 83 0.7× 37 0.4× 41 0.5× 87 1.4× 13 573
Vincent Liu United States 8 590 1.6× 53 0.4× 65 0.6× 73 0.8× 56 0.9× 9 678
F. Schoute Netherlands 9 455 1.2× 263 2.1× 37 0.4× 31 0.3× 77 1.2× 12 622
Kari Casas United States 10 424 1.1× 142 1.1× 152 1.5× 38 0.4× 32 0.5× 19 545
Manuela Morleo Italy 15 398 1.1× 361 2.9× 30 0.3× 24 0.3× 26 0.4× 22 597
Sophie Monnot France 13 403 1.1× 206 1.6× 191 1.9× 28 0.3× 38 0.6× 27 585
Avni Santani United States 16 405 1.1× 439 3.5× 23 0.2× 110 1.2× 26 0.4× 39 781
Tom Sante Belgium 12 246 0.7× 209 1.7× 15 0.1× 121 1.3× 43 0.7× 16 473
Rebecca I. Torene United States 10 165 0.4× 206 1.6× 17 0.2× 36 0.4× 45 0.7× 20 506

Countries citing papers authored by Katherine Schon

Since Specialization
Citations

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

Fields of papers citing papers by Katherine Schon

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Katherine Schon

This figure shows the co-authorship network connecting the top 25 collaborators of Katherine Schon. A scholar is included among the top collaborators of Katherine Schon 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 Katherine Schon. Katherine Schon 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.
Ratnaike, Thiloka, Siddharth Ramanan, Raja Narayanan, et al.. (2025). Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants. Genetics in Medicine. 28(1). 101620–101620. 1 indexed citations
2.
Ratnaike, Thiloka, et al.. (2024). Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis. BMJ Neurology Open. 6(1). e000650–e000650. 5 indexed citations
3.
Pal, Tuya, Katherine Schon, Judith Balmañà, et al.. (2024). Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 27(1). 101243–101243. 6 indexed citations
4.
Paramonov, Ida, Leslie Matalonga, Steven Laurie, et al.. (2024). Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease. Journal of Neuromuscular Diseases. 11(4). 767–775. 3 indexed citations
5.
Gao, Fei, et al.. (2024). Mitochondrial DNA disorders in neuromuscular diseases in diverse populations. Annals of Clinical and Translational Neurology. 12(8). 1680–1688. 1 indexed citations
6.
Schon, Katherine, Dominic G. O’Donovan, James B. Rowe, et al.. (2023). Multisystem pathology in McLeod syndrome. Neuropathology. 44(2). 109–114. 2 indexed citations
7.
Schon, Katherine, Magdolna Simó, Veronika Karcagi, et al.. (2023). Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals. Frontiers in Neurology. 14. 1292320–1292320. 1 indexed citations
8.
Wei, Wei, Katherine Schon, Greg Elgar, et al.. (2022). Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes. Nature. 611(7934). 105–114. 107 indexed citations
9.
Ratnaike, Thiloka, Daniel Greene, Wei Wei, et al.. (2021). MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases. Nucleic Acids Research. 49(17). 9686–9695. 22 indexed citations
10.
Fletcher, Emily V., Ranad Shaheen, Michael S. Nahorski, et al.. (2021). Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly. Journal of Medical Genetics. 59(4). 358–365. 2 indexed citations
11.
Yonova-Doing, Ekaterina, Claudia Calabrese, Aurora Gómez-Durán, et al.. (2021). An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank. Nature Genetics. 53(7). 982–993. 58 indexed citations
12.
Nannoni, Stefania, Daniel Scoffings, Katherine Schon, et al.. (2021). White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia.. Apollo (University of Cambridge). 3 indexed citations
13.
Schon, Katherine, Thiloka Ratnaike, Jelle van den Ameele, Rita Horváth, & Patrick F. Chinnery. (2020). Mitochondrial Diseases: A Diagnostic Revolution. Trends in Genetics. 36(9). 702–717. 74 indexed citations
14.
Schon, Katherine, Ed Rytina, James Drummond, et al.. (2018). Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting. Clinical and Experimental Dermatology. 43(4). 410–415. 14 indexed citations
15.
Schon, Katherine, Olivera Spasić-Bošković, Kim Brügger, et al.. (2017). Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child. Neurogenetics. 18(1). 49–55. 6 indexed citations
16.
Schon, Katherine & Marc Tischkowitz. (2017). Clinical implications of germline mutations in breast cancer: TP53. Breast Cancer Research and Treatment. 167(2). 417–423. 108 indexed citations
17.
Lax, Nichola Z., Charlotte L. Alston, Katherine Schon, et al.. (2015). Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to NovelRARS2Mutations. Journal of Neuropathology & Experimental Neurology. 74(7). 688–703. 25 indexed citations
18.
Schon, Katherine, et al.. (2010). An Unusual Case of Rectal Bleeding and Hemospermia. Gastroenterology. 138(3). 826–1216. 1 indexed citations
19.
Turner‐Stokes, Lynne, et al.. (2000). Charter for Disabled People Using Hospitals: A Completed Access Audit Cycle. Journal of the Royal College of Physicians of London. 34(2). 185–189. 3 indexed citations
20.
Schon, Katherine, et al.. (1993). Congenital Insensitivity to Pain Overview. 11 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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