Stephen P. Robertson

12.1k total citations · 2 hit papers
152 papers, 5.3k citations indexed

About

Stephen P. Robertson is a scholar working on Molecular Biology, Genetics and Cell Biology. According to data from OpenAlex, Stephen P. Robertson has authored 152 papers receiving a total of 5.3k indexed citations (citations by other indexed papers that have themselves been cited), including 77 papers in Molecular Biology, 77 papers in Genetics and 26 papers in Cell Biology. Recurrent topics in Stephen P. Robertson's work include Connective tissue disorders research (36 papers), Fetal and Pediatric Neurological Disorders (14 papers) and Nuclear Structure and Function (10 papers). Stephen P. Robertson is often cited by papers focused on Connective tissue disorders research (36 papers), Fetal and Pediatric Neurological Disorders (14 papers) and Nuclear Structure and Function (10 papers). Stephen P. Robertson collaborates with scholars based in New Zealand, Australia and United States. Stephen P. Robertson's co-authors include Ravi Savarirayan, Deborah Krakow, Andrea Superti‐Furga, Geert Mortier, Valérie Cormier‐Daire, Christine M Hall, Andrew O.M. Wilkie, David Sillence, Andrew J. Sutherland‐Smith and Gen Nishimura and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Journal of Biological Chemistry and Nature Medicine.

In The Last Decade

Stephen P. Robertson

144 papers receiving 5.2k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Nosology and classification of genetic skeletal disorders: 2010 revision

2011 450 citations Matthew L. Warman, Valérie Cormier‐Daire et al. American Journal of Medical Genetics Part A profile →
Nosology and classification of genetic skeletal disorders: 2019 revision

2019 379 citations Geert Mortier, Valérie Cormier‐Daire et al. American Journal of Medical Genetics Part A profile →

Peers

Stephen P. Robertson

GENET

SURGE

PPCH

André Mégarbané Lebanon

Elias I. Traboulsi United States

Hirotomo Saitsu Japan

Lionel Van Maldergem Belgium

Toshihiko Fujimori Japan

Anita Rauch Germany

Toshiyuki Yamamoto Japan

Hülya Kayserili Türkiye

Lihadh Al‐Gazali United Arab Emirates

Hélène Dollfus France

André Mégarbané Lebanon

Stephen P. Robertson

4.1k ×1.5

2.1k ×0.9

GENET

723 ×1.1

440 ×0.8

SURGE

361 ×0.7

PPCH

Citations per year, relative to Stephen P. Robertson Stephen P. Robertson (= 1×) peers André Mégarbané

Countries citing papers authored by Stephen P. Robertson

Since Specialization

Citations

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

Fields of papers citing papers by Stephen P. Robertson

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Stephen P. Robertson. 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 Stephen P. Robertson. The network helps show where Stephen P. Robertson may publish in the future.

Co-authorship network of co-authors of Stephen P. Robertson

This figure shows the co-authorship network connecting the top 25 collaborators of Stephen P. Robertson. A scholar is included among the top collaborators of Stephen P. Robertson 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 Stephen P. Robertson. Stephen P. Robertson 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

Franz, Elizabeth A., et al.. (2024). Aberrant connectivity of the lateralized readiness system in non-syndromic congenital mirror movements. Clinical Neurophysiology. 167. 61–73.

Avery, Nicole, et al.. (2023). Familial aggregation of keratinising desquamative squamous metaplasia in the urinary tract. British Journal of Urology. 133(S3). 15–17.

Snapyan, Marina, Francesco Di Matteo, Stephen P. Robertson, et al.. (2023). Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia. EMBO Molecular Medicine. 15(10). e16908–e16908. 1 indexed citations

Lam, Wayne, Nora Shannon, Karen Knapp, et al.. (2020). Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European Journal of Human Genetics. 29(4). 593–603. 10 indexed citations

Maddineni, Prabhavathi, et al.. (2020). Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity. Journal of Molecular Medicine. 98(11). 1639–1656. 10 indexed citations

Ng, Bobby G., Hassan Dastsooz, Parham Habibzadeh, et al.. (2020). Expanding the molecular and clinical phenotypes of FUT8‐CDG. Journal of Inherited Metabolic Disease. 43(4). 871–879. 27 indexed citations

Caron, Nadine R., Māui Hudson, Laura Arbour, et al.. (2020). Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts. Frontiers in Public Health. 8. 111–111. 42 indexed citations

Heinzen, Erin L., Adam C. O’Neill, Xiaolin Zhu, et al.. (2018). De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genetics. 14(5). e1007281–e1007281. 45 indexed citations

Stapleton, Rachel, Tim Morgan, Ian Hayes, et al.. (2018). A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer. Journal of the Royal Society of New Zealand. 48(4). 262–279. 3 indexed citations

10.

Cameron‐Christie, Sophia, Andrew Gray, Rick M. Tankard, et al.. (2018). Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family. BMC Medical Genomics. 11(1). 121–121. 7 indexed citations

11.

Zankl, Andreas, Emma L. Duncan, Paul Leo, et al.. (2014). Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB. The American Journal of Human Genetics. 94(4). 643–643. 3 indexed citations

12.

Below, Jennifer E., Anita E. Beck, Heidi Gildersleeve, et al.. (2012). Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D. The American Journal of Human Genetics. 92(1). 150–156. 52 indexed citations

13.

Warman, Matthew L., Valérie Cormier‐Daire, Christine M Hall, et al.. (2011). Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics Part A. 155(5). 943–968. 450 indexed citations breakdown →

14.

Kapur, Raj P., Stephen P. Robertson, Mark Hannibal, et al.. (2010). Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction. The American Journal of Surgical Pathology. 34(10). 1528–1543. 42 indexed citations

15.

Anderson, S. Keith, et al.. (2009). Aicardi Syndrome in a Male Patient. Neuropediatrics. 40(1). 39–42. 5 indexed citations

16.

Colombani, Marina, Nicole Laurent, Martine Le Merrer, et al.. (2006). A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. Prenatal Diagnosis. 26(12). 1151–1155. 2 indexed citations

17.

Downey, Louise, T J Keen, Michael J. Aldred, et al.. (2002). Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. European Journal of Human Genetics. 10(12). 865–869. 26 indexed citations

18.

Kennerson, Marina, Danqing Zhu, R. J McKinlay Gardner, et al.. (2001). Dominant Intermediate Charcot-Marie-Tooth Neuropathy Maps to Chromosome 19p12-p13.2. The American Journal of Human Genetics. 69(4). 883–888. 31 indexed citations

19.

Robertson, Stephen P., et al.. (1999). Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. American Journal of Medical Genetics. 85(4). 395–402. 2 indexed citations

20.

Williamson, R. & Stephen P. Robertson. (1999). The new genetics. What are the everyday clinical applications?. PubMed. 28(10). 995–9. 2 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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