Researcher
Steven Laurie
Centro nacional de análisis genomica
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19 papers found
All papers authored by Steven Laurie
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Annalaura Torella,
Giulio Piluso,
Marcello Scala,
Manuela Morleo,
Vincenzo Nigro,
Holm Graessner,
Siddharth Banka,
Alfons Macaya,
Belén Pérez-Dueñas,
Adam Jackson,
Giovanni Stevanin,
Jean-Madeleine de Sainte Agathe,
Markéta Havlovicová
and 27 other authors
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
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J. Dylan Spalding,
Dylan Spalding,
Spencer Gibson,
David Ruvolo,
Coline Thomas,
Davide Piscia,
Fernanda de Andrade,
Gerieke Been,
Marieke Bijlsma,
Han Brunner,
Sandi Cimerman,
Farid Yavari Dizjikan,
Kornelia Ellwanger
and 23 other authors
A unified data infrastructure to support large-scale rare disease research
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Leslie Matalonga,
Montserrat Pujadas,
Anastasios Papakonstantinou,
Davide Piscia,
Raúl Tonda,
Rafael Artuch,
Pia Gallano,
Glòria Garrabou,
Juan R. González,
Daniel Grinberg,
Míriam Guitart,
Steven Laurie ,
Conxi Lázaro,
Cristina Luengo
and 95 other authors
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Annalaura Torella,
Steve Laurie ,
Valeria Policastro ,
Mariateresa Pizzo,
Sergi Beltran,
Giorgio Casari ,
Vincenzo Nigro,
Sandro Banfi
Download from doi.org
,
Ana Rath
and 209 other authors
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Download from www.nature.com
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Anastasios Papakonstantinou,
Davide Piscia,
Elisabetta Mereu ,
Gemma Bullich ,
Rachel Thompson ,
Rita Horvath ,
Luis Pérez-Jurado,
Olaf Riess,
Ivo Gut ,
Gert-Jan van Ommen,
Hanns Lochmüller,
Alessandra Renieri,
Sergi Beltran
and 69 other authors
Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity
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Elisabeth Gabau,
Steve Laurie ,
Neus Baena,
Sophia Derdak,
Núria Capdevila,
Ariadna Ramirez,
Veronica Delgadillo,
Maria Jesus García‐Catalan,
Carme Brun,
Miriam Guitart,
Anna Ruiz
Download from doi.org
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Ana Töpf,
Veeramani Preethish-Kumar,
Paulo José Lorenzoni,
Bas Vroling,
Rosana Herminia Scola,
Elza Dias-Tosta,
Argemiro Geraldo,
Kiran Polavarapu,
Saraswati Nashi,
Daniel Cox,
Teresinha Evangelista,
John Dawson,
Rachel Thompson,
Jan Senderek
and 6 other authors
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
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L. Matalonga,
C. Baldo ,
L. Garavelli
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Laia Bonjoch ,
Miriam Cuatrecasas,
Esther Samper,
Jenifer Muñoz,
Teresa Ocaña,
Sabela Carballal,
María López-Cerón,
Antoni Castells,
Maria Vila-Casadesús
and 13 other authors
Download from digital.csic.es
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Marcos Fernandez‐Callejo,
Santiago Marco‐Sola,
Jean‐Remi Trotta,
Jordi Camps,
Alejandro Chacón,
Antonio Espinosa,
Marta Gut,
Ivo Gut,
Simon Heath,
Sergi Beltran
Download from onlinelibrary.wiley.com
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M. Mar Alba
Accelerated Evolution after Gene Duplication: A Time-Dependent Process Affecting Just One Copy
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Macarena Toll-Riera,
Núria Radó-Trilla,
M. Mar Albà,
M. Mar Albà
Sequence shortening in the rodent ancestor
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M. Mar Alba
Lineage-Specific Variation in Intensity of Natural Selection in Mammals
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,
Simon R. Turner
Multiple Cellulose Synthase Catalytic Subunits Are Required for Cellulose Synthesis in Arabidopsis
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Maurice Super,
Vera Pravica,
Peter D. Arkwright,
Martin J. Schwarz,
A. Kevin Webb,
Ian V. Hutchinson
TGF-β1 genotype and accelerated decline in lung function of patients with cystic fibrosis
Download from www.ncbi.nlm.nih.govMissing publications? Search for publications with a matching author name.