Steven Laurie

1.4k total citations
25 papers, 364 citations indexed

About

Steven Laurie is a scholar working on Molecular Biology, Genetics and Cancer Research. According to data from OpenAlex, Steven Laurie has authored 25 papers receiving a total of 364 indexed citations (citations by other indexed papers that have themselves been cited), including 21 papers in Molecular Biology, 11 papers in Genetics and 4 papers in Cancer Research. Recurrent topics in Steven Laurie's work include Genomics and Rare Diseases (6 papers), Genomics and Phylogenetic Studies (6 papers) and Mitochondrial Function and Pathology (3 papers). Steven Laurie is often cited by papers focused on Genomics and Rare Diseases (6 papers), Genomics and Phylogenetic Studies (6 papers) and Mitochondrial Function and Pathology (3 papers). Steven Laurie collaborates with scholars based in Spain, United Kingdom and Germany. Steven Laurie's co-authors include M. Mar Albà, Cinta Pegueroles, Macarena Toll‐Riera, José Luis Villanueva‐Cañas, Sergi Beltrán, Marta Gut, Hanns Lochmüller, Ana Töpf, Jordi Camps and Santiago Marco‐Sola and has published in prestigious journals such as Nature Communications, PLoS ONE and International Journal of Molecular Sciences.

In The Last Decade

Steven Laurie

23 papers receiving 363 citations

Peers

Steven Laurie

GENET

NEURO

CMN

Xinwen Zhang China

Jesper Brohede Sweden

Karin Meier Mexico

Stefan Andersson Escher Sweden

Fabienne Godin France

Fabrice Girardot France

Soumya Kundu United States

Shuhei Kimura Japan

Valentin Wucher France

Xinwen Zhang China

Steven Laurie

272 ×1.2

72 ×0.5

GENET

92 ×1.6

33 ×0.9

NEURO

58 ×1.7

CMN

Citations per year, relative to Steven Laurie Steven Laurie (= 1×) peers Xinwen Zhang

Countries citing papers authored by Steven Laurie

Since Specialization

Citations

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

Fields of papers citing papers by Steven Laurie

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Steven Laurie

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

Deconinck, Tine, Katrien Janssens, Alicia Alonso‐Jiménez, et al.. (2025). A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy. European Journal of Human Genetics. 34(1). 45–52.

Rigau, Maria, Mattia Bosio, Emily O’Connor, et al.. (2024). Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nature Communications. 15(1). 1227–1227. 12 indexed citations

Yépez, Vicente A., German Demidov, Steven Laurie, et al.. (2024). An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy. International Journal of Molecular Sciences. 25(14). 7793–7793. 2 indexed citations

Polavarapu, Kiran, Rachel Thompson, Sally Spendiff, et al.. (2024). Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Neuromuscular Disorders. 39. 10–18. 1 indexed citations

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

Garcia‐Pelaez, José, Marta Ferreira, Óscar Arrieta, et al.. (2023). Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer. Gastric Cancer. 26(5). 653–666. 3 indexed citations

Corral‐Juan, Marc, Pilar Casquero, Steven Laurie, et al.. (2022). New spinocerebellar ataxia subtype caused bySAMD9Lmutation triggering mitochondrial dysregulation (SCA49). Brain Communications. 4(2). fcac030–fcac030. 21 indexed citations

Musacchia, Francesco, Marianthi Karali, Annalaura Torella, et al.. (2021). VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage. Genes. 12(12). 1979–1979. 2 indexed citations

Gabau, Elisabeth, Carme Brun i Gasca, Steven Laurie, et al.. (2021). New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. PLoS ONE. 16(10). e0258766–e0258766. 14 indexed citations

10.

McMacken, Grace, Hanns Lochmüller, Boglárka Bánsági, et al.. (2020). Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. Journal of Neurology. 267(12). 3643–3649. 5 indexed citations

11.

Yaramış, Ahmet, Hanns Lochmüller, Ana Töpf, et al.. (2020). COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children. Neurology Genetics. 6(1). e392–e392. 8 indexed citations

12.

Laurie, Steven, Giuliana Maldonado, Berta Fusté, et al.. (2020). A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome. European Journal of Medical Genetics. 63(4). 103854–103854. 7 indexed citations

13.

Hız, Semra, Yavuz Oktay, Emily O’Heir, et al.. (2020). Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. Brain and Development. 42(7). 539–545. 12 indexed citations

14.

Töpf, Ana, Yavuz Oktay, Uluç Yiş, et al.. (2019). Severe neurodevelopmental disease caused by a homozygous TLK2 variant. European Journal of Human Genetics. 28(3). 383–387. 4 indexed citations

15.

Laurie, Steven, Marcos Fernández-Callejo, Santiago Marco‐Sola, et al.. (2016). From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing. Human Mutation. 37(12). 1263–1271. 31 indexed citations

16.

Pegueroles, Cinta, Steven Laurie, & M. Mar Albà. (2013). Accelerated Evolution after Gene Duplication: A Time-Dependent Process Affecting Just One Copy. Molecular Biology and Evolution. 30(8). 1830–1842. 97 indexed citations

17.

Villanueva‐Cañas, José Luis, Steven Laurie, & M. Mar Albà. (2013). Improving Genome-Wide Scans of Positive Selection by Using Protein Isoforms of Similar Length. Genome Biology and Evolution. 5(2). 457–467. 39 indexed citations

18.

Laurie, Steven, et al.. (2011). Sequence shortening in the rodent ancestor. Genome Research. 22(3). 478–485. 17 indexed citations

19.

Toll‐Riera, Macarena, Steven Laurie, & M. Mar Albà. (2010). Lineage-Specific Variation in Intensity of Natural Selection in Mammals. Molecular Biology and Evolution. 28(1). 383–398. 34 indexed citations

20.

Laurie, Steven. (2006). . Proceedings of the Geologists Association. 117(3). 323–324.

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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