Research

Metabolomics and biochemical genetics

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Publications

  • Mirra S, Arroyo RG, Domènech EB, Gavaldà-Navarro A, Herrera-Úbeda C, Oliva C, Garcia-Fernàndez J, Artuch-Iriberri R, Villarroya-Gombau F and Marfany G.

    CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina

    NEUROBIOLOGY OF DISEASE . 156: 105405-105405. Number of citations: 15

    [doi:10.1016/j.nbd.2021.105405]

  • Rojano E, Córdoba-Caballero J, Jabato FM, Gallego D, Serrano M, Pérez B, Parés-Aguilar Á, Perkins JR, Ranea JAG and Seoane-Zonjic P.

    Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.

    Journal of Personalized Medicine . 11(8): 730. Number of citations: 2

    [doi:10.3390/jpm11080730]

  • Pijuan-Marquilles J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá-San Martin A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F and Hoenicka J.

    PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder

    AUTISM RESEARCH . 14(6): 1088-1100. Number of citations: 8

    [doi:10.1002/aur.2502]

  • Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.

    CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Number of citations: 6

    [doi:10.3390/ijms22105180]

  • Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Nascimento-Osorio A, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J and Pandey UB.

    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    NATURE COMMUNICATIONS . 12(1): 2558-2558. Number of citations: 29

    [doi:10.1038/s41467-021-22627-w]

  • Esparza-Moltó PB, Romero-Carramiñana I, Núñez de Arenas C, Pereira MP, Blanco N, Pardo B, Bates GR, Sánchez-Castillo C, Artuch-Iriberri R, Murphy MP, Esteban JA and Cuezva JM.

    Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition

    Plos Biology . 19(5): . Number of citations: 28

    [doi:10.1371/journal.pbio.3001252]

  • Pajares S, Arranz JA, Ormazabal-Herrero A, Del Toro M, Garcia-Cazorla A, Navarro-Sastre A, López RM, Meavilla SM, de los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch-Iriberri R, Tort F, Gort L, Fernández R, García-Villoria J and Ribes A.

    Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

    ORPHANET JOURNAL OF RARE DISEASES . 16(1): 195-195. Number of citations: 22

    [doi:10.1186/s13023-021-01784-7]

  • Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Number of citations: 10

    [doi:10.3390/ijms22084274]

  • García-García A, Buendia Arellano M, Deyà-Martinez A, Lozano-Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Solé A, Luo Y, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP and Alsina L.

    Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features

    PEDIATRIC ALLERGY AND IMMUNOLOGY . 32(3): 566-575. Number of citations: 4

    [doi:10.1111/pai.13398]

  • Evers RAF, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Bosch AM, Burlina A, Campistol-Plana J, Coskun T, Feillet F, Gizewska M, Huijbregts SCJ, Kearney S, Langeveld M, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz FK, MacDonald A and van Spronsen FJ.

    Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.

    MOLECULAR GENETICS AND METABOLISM . 132(4): 215-219. Number of citations: 1

    [doi:10.1016/j.ymgme.2021.01.013]