Steven Laurie - Concepedia

Author

Steven Laurie

Also Known As

Ange-Line Bruel, Bart van de Warrenburg, Carla Oliveira, Ivo Glynne Gut, Laurie, Steve, Laurie, Steven, Leslie Matalonga, Marc Tischkowitz, Mridul Johari, Olaf Riess

101

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

Centre for Genomic Regulation Centro Nacional de Análisis Genómico Newcastle University Universitat Pompeu Fabra University of Cambridge

About

Steven Laurie is an author at Centre for Genomic Regulation specializing in genetics, medicine, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	245
2	Public Health	2	2	79
3	Engineering	1	1	60
4	Health Sciences	1	1	32
5	Natural Sciences	1	1	62

Steven Laurie

Publications

Citations

H-Index

Page 1

	Year	Citations
Accelerated Evolution after Gene Duplication: A Time-Dependent Process Affecting Just One Copy Cinta Pegueroles, Steven Laurie, M. Mar Albà Molecular Biology and Evolution	2013	146
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, European Journal of Human Genetics	2021	100
From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing Steven Laurie, Marcos Fernández-Callejo, Santiago Marco‐Sola, Human Mutation GeneticsGenetic EpidemiologyGenomicsHigh Throughput SequencingComputational Genomics	2016	63
Improving Genome-Wide Scans of Positive Selection by Using Protein Isoforms of Similar Length José Luis Villanueva‐Cañas, Steven Laurie, M. Mar Albà Genome Biology and Evolution Gene FamiliesGeneticsMolecular BiologyGenomicsSequence Alignment	2013	62
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases Steven Laurie, Davide Piscia, Leslie Matalonga, Human Mutation Accelerating DiagnosisEngineeringGeneticsGene DiscoveryGenomics	2022	60
Lineage-Specific Variation in Intensity of Natural Selection in Mammals Macarena Toll‐Riera, Steven Laurie, M. Mar Albà Molecular Biology and Evolution	2010	39
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome António Atalaia, Rachel Thompson, Alberto Corvò, Orphanet Journal of Rare Diseases	2020	35
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant B. Sunitha, Ana Töpf, Grace McMacken, European Journal of Human Genetics	2019	33
Recessive variants of <i>MuSK</i> are associated with late onset CMS and predominant limb girdle weakness David J Owen, Ana Töpf, Veeramani Preethish‐Kumar, American Journal of Medical Genetics Part A GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification	2018	32
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Journal of Molecular Diagnostics	2020	32

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