Susan Tomkins

3.5k total citations
15 papers, 1.2k citations indexed

About

Susan Tomkins is a scholar working on Genetics, Molecular Biology and Genetics. According to data from OpenAlex, Susan Tomkins has authored 15 papers receiving a total of 1.2k indexed citations (citations by other indexed papers that have themselves been cited), including 10 papers in Genetics, 6 papers in Molecular Biology and 2 papers in Genetics. Recurrent topics in Susan Tomkins's work include Genomic variations and chromosomal abnormalities (6 papers), Genomics and Rare Diseases (4 papers) and Tuberous Sclerosis Complex Research (2 papers). Susan Tomkins is often cited by papers focused on Genomic variations and chromosomal abnormalities (6 papers), Genomics and Rare Diseases (4 papers) and Tuberous Sclerosis Complex Research (2 papers). Susan Tomkins collaborates with scholars based in United Kingdom, United States and Canada. Susan Tomkins's co-authors include Jeremy P. Cheadle, Julian R. Sampson, Shelley Idziaszczyk, Nazneen Rahman, Helen E. Hughes, Alexandra Murray, I. Karen Temple, Sally Davies, Jenny Douglas and Sandra Hanks and has published in prestigious journals such as Genome Research, The American Journal of Human Genetics and British Journal of Cancer.

In The Last Decade

Susan Tomkins

15 papers receiving 1.1k citations

Peers

Susan Tomkins

GENET

PHYSI

ONCOL

PRM

Shih‐hsin Kan United States

Marja Hietala Finland

A.M.W. van den Ouweland Netherlands

Dorota Domańska‐Pakieła Poland

Kristiina Avela Finland

Huma Q. Rana United States

Isabelle Thiffault United States

A M van den Ouweland Netherlands

Victoria A. Robb United States

Julian R. Sampson United Kingdom

Shih‐hsin Kan United States

Susan Tomkins

337 ×0.5

GENET

415 ×0.7

253 ×0.7

PHYSI

64 ×0.4

ONCOL

40 ×0.4

PRM

Citations per year, relative to Susan Tomkins Susan Tomkins (= 1×) peers Shih‐hsin Kan

Countries citing papers authored by Susan Tomkins

Since Specialization

Citations

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

Fields of papers citing papers by Susan Tomkins

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Susan Tomkins

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

All Works

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15 of 15 papers shown

King, Daniel A., Alejandro Sifrim, Tomas Fitzgerald, et al.. (2017). Detection of structural mosaicism from targeted and whole-genome sequencing data. Genome Research. 27(10). 1704–1714. 38 indexed citations

Balasubramanian, Meena, Josh Willoughby, Andrew E. Fry, et al.. (2017). Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Journal of Medical Genetics. 54(8). 537–543. 44 indexed citations

Kharbanda, Mira, Daniela T. Pilz, Susan Tomkins, et al.. (2016). Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. European Journal of Medical Genetics. 60(2). 130–135. 46 indexed citations

Pichiecchio, Anna, Roberta La Piana, Daniel Doherty, et al.. (2012). COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. Neuropediatrics. 43(5). 283–288. 16 indexed citations

Livingston, John H., Dan Doherty, Simona Orcesi, et al.. (2011). COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification. Neuropediatrics. 42(6). 227–233. 29 indexed citations

Rosenfeld, Jill A., John A. Crolla, Susan Tomkins, et al.. (2010). Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. American Journal of Medical Genetics Part A. 152A(8). 1951–1959. 37 indexed citations

Thomas, N. Simon, John F. Harvey, David J. Bunyan, et al.. (2009). Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature. American Journal of Medical Genetics Part A. 149A(7). 1407–1414. 43 indexed citations

Tatton‐Brown, Katrina, Daniela T. Pilz, Karen Helene Ørstavik, et al.. (2009). 15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. American Journal of Medical Genetics Part A. 149A(2). 147–154. 55 indexed citations

Joss, Shelagh, et al.. (2007). Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. European Journal of Pediatrics. 167(3). 341–345. 16 indexed citations

10.

Douglas, Jenny, Sandra Hanks, I. Karen Temple, et al.. (2003). NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes. The American Journal of Human Genetics. 72(1). 132–143. 210 indexed citations

11.

Hancock, Eleanor, et al.. (2002). Lymphangioleiomyomatosis and tuberous sclerosis. Respiratory Medicine. 96(1). 7–13. 51 indexed citations

12.

Kan, Shih‐hsin, Navaratnam Elanko, David Johnson, et al.. (2002). Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis. The American Journal of Human Genetics. 70(2). 472–486. 177 indexed citations

13.

Durham, Jennifer N., et al.. (2001). Antagonists of retinoic acid receptors (RARs) are potent growth inhibitors of prostate carcinoma cells. British Journal of Cancer. 85(3). 453–462. 35 indexed citations

14.

Tomkins, Susan, et al.. (2001). Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders. Journal of Medical Ethics. 27(5). 347–351. 11 indexed citations

15.

Idziaszczyk, Shelley, et al.. (1999). Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis. The American Journal of Human Genetics. 64(5). 1305–1315. 368 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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