Research

Metabolomics and biochemical genetics

Search publications

Publications

  • Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, D'Arco F, Löbel U, Gómez-Chiari M, Serrano M, Bolasell M, Reddy K, Ben-Sira L, Zakzouk R, Al-Hashem A, Mirsky DM, Patel R, Radhakrishnan R, Shekdar K, Whitehead MT and Mankad K.

    Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development

    AMERICAN JOURNAL OF NEURORADIOLOGY . : .

    [doi:10.3174/ajnr.A8364]

  • Barroso, Sergio, Guitart-Mampel, Mariona, Garcia-Garcia, Francesc Josep, Canto-Santos, Judith, Valls-Roca, Laura, Andujar-Sanchez, Felix, Vilaseca-Capel, Adria, Tobias, Ester, Arias-Dimas, Angela, Quesada-Lopez, Tania, Artuch-Iriberri R, Villarroya-Gombau F, Giralt, Marta, Martinez, Esteban, Lozano, Ester and Garrabou, Gloria.

    Metabolic, Mitochondrial, and Inflammatory Effects of Efavirenz, Emtricitabine, and Tenofovir Disoproxil Fumarate in Asymptomatic Antiretroviral-Naïve People with HIV

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(15): .

    [doi:10.3390/ijms25158418]

  • Serrano M, MARIA ELIAS ABADIAS, Llorens M, Bolasell M, Vall-Roqué H and Villalta L.

    Early treatment for children with mental health problems and genetic conditions through a parenting intervention (The GAP): study protocol for a pragmatic randomized controlled trial.

    Trials . 25(1): 496-496.

    [doi:10.1186/s13063-024-08278-4]

  • Centeno-Pla M, Alcaide-Consuegra E, Gibson S, Prat-Planas A, Gutiérrez-Ávila JD, Grinberg-Vaisman DR, Urreizti R, Rabionet-Janssen R and Balcells S.

    Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

    JOURNAL OF MEDICAL GENETICS . 61(8): 780-782. Number of citations: 2

    [doi:10.1136/jmg-2024-109898]

  • Morales-Romero B, Muñoz-Pujol G, Artuch-Iriberri R, Garcia-Cazorla A, O'Callaghan-Gordo M, Sykut-Cegielska J, Campistol-Plana J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J and Tort F.

    Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

    MOLECULAR GENETICS AND METABOLISM . 142(3): 108511-108511.

    [doi:10.1016/j.ymgme.2024.108511]

  • Cao X, Lake M, Van der Hoeven G, Claes Z, Del Pino García J, Lemaire S, Greiner EC, Karamanou S, Van Eynde A, Kettenbach AN, Natera-de Benito D, Carrera-García L, Hernando-Davalillo C, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R and Bollen M.

    SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1

    NATURE COMMUNICATIONS . 15(1): 5359-5359.

    [doi:10.1038/s41467-024-49746-4]

  • Bloomfield M, Lautarescu A, Heraty S, Douglas S, Violland P, Plas R, Ghosh A, Van den Bosch K, Eaton E, Absoud M, Battini R, Blázquez Hinojosa A, Bolshakova N, Bölte S, Bonanni P, Borg J, Calderoni S, Calvo Escalona R, Castelo-Branco M, Castro-Fornieles J, Caro P, Cliquet F, Danieli A, Delorme R, Elia M, Hempel M, Leblond CS, Madeira N, McAlonan G, Milone R, Molloy CJ, Mouga S, Montiel MV, Pina Rodrigues A, Schaaf CP, Serrano M, Tammimies K, Tye C, Vigevano F, Oliveira G, Mazzone B, O'Neill C, Pender J, Romero V, Tillmann J, Oakley B, Murphy DGM, Gallagher L, Bourgeron T, Chatham C and Charman T.

    European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.

    BMJ Open . 14(6): .

    [doi:10.1136/bmjopen-2023-080746]

  • Launay N, Lopez-Erauskin J, Bianchi P, Guha S, Parameswaran J, Coppa A, Torreni L, Schlüter A, Fourcade S, Paredes-Fuentes AJ, Artuch-Iriberri R, Casasnovas C, Ruiz M and Pujol A.

    Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy

    BRAIN . 147(6): 2069-2084. Number of citations: 1

    [doi:10.1093/brain/awae038]

  • Gallego D, Serrano M, Cordoba-Caballero J, Gámez A, Seoane P, Perkins JR, Ranea JAG and Pérez B.

    Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE . 1870(5): 167163-167163. Number of citations: 1

    [doi:10.1016/j.bbadis.2024.167163]

  • Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R.

    Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    PEDIATRIC NEUROLOGY . 155: 8-17.

    [doi:10.1016/j.pediatrneurol.2024.03.008]