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

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

#	Title	Journal	Authors	Indexed citations
1	A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy	European Journal of Human Genetics	Tine Deconinck, Katrien Janssens et al.	0
2	Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes	Nature Communications	Maria Rigau, Mattia Bosio et al.	12
3	An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy	International Journal of Molecular Sciences	Vicente A. Yépez, German Demidov et al.	2
4	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	Kiran Polavarapu, Rachel Thompson et al.	1
5	Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease	Journal of Neuromuscular Diseases	Ida Paramonov, Leslie Matalonga et al.	3
6	Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer	Gastric Cancer	José Garcia‐Pelaez, Marta Ferreira et al.	3
7	New spinocerebellar ataxia subtype caused bySAMD9Lmutation triggering mitochondrial dysregulation (SCA49)	Brain Communications	Marc Corral‐Juan, Pilar Casquero et al.	21
8	VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage	Genes	Francesco Musacchia, Marianthi Karali et al.	2
9	New genes involved in Angelman syndrome-like: Expanding the genetic spectrum	PLoS ONE	Elisabeth Gabau, Carme Brun i Gasca et al.	14
10	Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion	Journal of Neurology	Grace McMacken, Hanns Lochmüller et al.	5
11	COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children	Neurology Genetics	Ahmet Yaramış, Hanns Lochmüller et al.	8
12	A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome	European Journal of Medical Genetics	Steven Laurie, Giuliana Maldonado et al.	7
13	Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG	Brain and Development	Semra Hız, Yavuz Oktay et al.	12
14	Severe neurodevelopmental disease caused by a homozygous TLK2 variant	European Journal of Human Genetics	Ana Töpf, Yavuz Oktay et al.	4
15	From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing	Human Mutation	Steven Laurie, Marcos Fernández-Callejo et al.	31
16	Accelerated Evolution after Gene Duplication: A Time-Dependent Process Affecting Just One Copy	Molecular Biology and Evolution	Cinta Pegueroles, Steven Laurie et al.	97
17	Improving Genome-Wide Scans of Positive Selection by Using Protein Isoforms of Similar Length	Genome Biology and Evolution	José Luis Villanueva‐Cañas, Steven Laurie et al.	39
18	Sequence shortening in the rodent ancestor	Genome Research	Steven Laurie, Macarena Toll‐Riera et al.	17
19	Lineage-Specific Variation in Intensity of Natural Selection in Mammals	Molecular Biology and Evolution	Macarena Toll‐Riera, Steven Laurie et al.	34
20		Proceedings of the Geologists Association	Steven Laurie	0

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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