D
David Gómez-Andrés
Researcher at Hebron University
Publications - 43
Citations - 985
David Gómez-Andrés is an academic researcher from Hebron University. The author has contributed to research in topics: Medicine & Disease. The author has an hindex of 11, co-authored 35 publications receiving 652 citations. Previous affiliations of David Gómez-Andrés include Hospital Universitario La Paz & French Institute of Health and Medical Research.
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Journal ArticleDOI
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler,Leigh C. Carmody,Nicole Vasilevsky,Julius O.B. Jacobsen,Daniel Danis,Jean-Philippe F. Gourdine,Michael A. Gargano,Nomi L. Harris,Nicolas Matentzoglu,Julie A. McMurry,David Osumi-Sutherland,Valentina Cipriani,James P. Balhoff,Tom Conlin,Hannah Blau,Gareth Baynam,Richard Palmer,Dylan Gratian,Hugh Dawkins,Michael M. Segal,Anna Jansen,Ahmed Muaz,Willie H. Chang,Jenna R.E. Bergerson,Stanley J. F. Laulederkind,Zafer Yüksel,Sergi Beltran,Alexandra F. Freeman,Panagiotis I. Sergouniotis,Daniel Durkin,Andrea L. Storm,Marc Hanauer,Michael Brudno,Susan M. Bello,Murat Sincan,Kayli Rageth,Matthew T. Wheeler,Renske Oegema,Halima Lourghi,Maria G. Della Rocca,Rachel Thompson,Francisco Castellanos,James R. Priest,Charlotte Cunningham-Rundles,Ayushi Hegde,Ruth C. Lovering,Catherine Hajek,Annie Olry,Luigi D. Notarangelo,Morgan Similuk,Xingmin Aaron Zhang,David Gómez-Andrés,Hanns Lochmüller,Hélène Dollfus,Sergio Rosenzweig,Shruti Marwaha,Ana Rath,Kathleen E. Sullivan,Cynthia L. Smith,Joshua D. Milner,Dorothée Leroux,Cornelius F. Boerkoel,Amy D. Klion,Melody C. Carter,Tudor Groza,Damian Smedley,Melissa A. Haendel,Melissa A. Haendel,Christopher J. Mungall,Peter N. Robinson +69 more
TL;DR: The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data and plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data.
Journal ArticleDOI
Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern
Karolina Hankiewicz,Robert Carlier,L. Lazaro,Javier Linzoain,Christine Barnerias,David Gómez-Andrés,Daniela Avila-Smirnow,Ana Ferreiro,Brigitte Estournet,Pascale Guicheney,Dominique P. Germain,Pascale Richard,Sebastian Bulacio,Dominique Mompoint,Susana Quijano-Roy +14 more
TL;DR: In this paper, the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM) was delineated using whole-body magnetic resonance imaging (WBMRI).
Journal ArticleDOI
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
Jordi Díaz-Manera,Aída Alejaldre,L. Gonzalez,Montse Olivé,David Gómez-Andrés,Nuria Muelas,Juan José Vilchez,Jaume Llauger,Pilar Carbonell,Celedonio Márquez-Infante,Roberto Fernández-Torrón,Juan José Poza,Adolfo López de Munain,Lidia Gonzalez-Quereda,Sonia Mirabet,Jordi Clarimón,Pia Gallano,Ricard Rojas-García,Eduard Gallardo,Isabel Illa +19 more
TL;DR: Muscle MRI/CT identifies a similar pattern of muscle fatty infiltration in patients with mutations in the EMD or the LMNA genes and search for differences between the two genotypes that could be helpful to guide the genetic tests.
Journal ArticleDOI
MYO-MRI diagnostic protocols in genetic myopathies.
Jodi Warman Chardon,Jordi Díaz-Manera,Giorgio Tasca,Carsten G. Bönnemann,David Gómez-Andrés,Arend Heerschap,Eugenio Mercuri,Francesco Muntoni,Anna Pichiecchio,Enzo Ricci,Maggie C. Walter,Michael G. Hanna,Heinz Jungbluth,Jasper M. Morrow,Roberto Fernández-Torrón,Bjarne Udd,John Vissing,Tarek A. Yousry,Susana Quijano-Roy,Volker Straub,Robert Carlier +20 more
TL;DR: This review outlines Whole-body MRI indications and updates refined protocols and provides a comprehensive overview of the diagnostic utility and suggested methodology of Whole- body MRI for pediatric and adult patients with muscle diseases.
Journal ArticleDOI
Abnormal motor phenotype at adult stages in mice lacking type 2 deiodinase.
Soledad Bárez-López,Daniel Bosch-García,David Gómez-Andrés,Irene Pulido-Valdeolivas,Ana Montero-Pedrazuela,María Jesús Obregón,Ana Guadaño-Ferraz +6 more
TL;DR: The motor alterations observed in D2KO mice indicate an important role for D2 in T3 availability to maintain motor function and muscle strength in adult stages in which compensatory mechanisms could have failed.