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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 1
2006 1
2007 2
2008 3
2009 3
2010 2
2011 2
2012 4
2013 6
2014 4
2015 5
2016 7
2018 2
2019 2
2020 9
2021 5
2022 5
2023 6
2024 7
2025 8
2026 3

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75 results

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Page 1
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684 Free article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model.
Mateu-Bosch A, Segur-Bailach E, Muñoz-Moreno E, Barallobre MJ, Arbonés ML, Gea-Sorlí S, Tort F, Ribes A, García-Villoria J, Fillat C. Mateu-Bosch A, et al. Among authors: garcia villoria j. Mol Ther Methods Clin Dev. 2024 Jun 4;32(3):101276. doi: 10.1016/j.omtm.2024.101276. eCollection 2024 Sep 12. Mol Ther Methods Clin Dev. 2024. PMID: 38983872 Free PMC article.
Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice.
Segur-Bailach E, Mateu-Bosch A, Bofill-De Ros X, Parés M, da Silva Buttkus P, Rathkolb B, Gailus-Durner V, Hrabě de Angelis M, Moeini P, Gonzalez-Aseguinolaza G, Tort F, Ribes A, van Karnebeek CDM, García-Villoria J, Fillat C. Segur-Bailach E, et al. Among authors: garcia villoria j. Mol Ther. 2025 Oct 1;33(10):4820-4833. doi: 10.1016/j.ymthe.2025.07.022. Epub 2025 Jul 17. Mol Ther. 2025. PMID: 40682274 Free PMC article.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Morales-Romero B, Muñoz-Pujol G, Artuch R, García-Cazorla A, O'Callaghan M, Sykut-Cegielska J, Campistol 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, Tort F. Morales-Romero B, et al. Among authors: garcia villoria j. Mol Genet Metab. 2024 Jul;142(3):108511. doi: 10.1016/j.ymgme.2024.108511. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38878498 Free article.
Polymeric nanoparticles for liver-targeted pituitary tumor-transforming gene 1 silencing in rats with chronic liver disease.
Perramón M, Navalón-López M, Fernández-Varo G, Casals G, Faneca J, Macías-Herranz M, Boix L, Fundora Y, Morales-Ruiz M, García-Villoria J, Fornaguera C, Borrós S, Jiménez W. Perramón M, et al. Among authors: garcia villoria j. Nanomedicine. 2025 Oct;69:102860. doi: 10.1016/j.nano.2025.102860. Epub 2025 Sep 25. Nanomedicine. 2025. PMID: 41004866 Free article.
Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria.
Gonzalez-Rodriguez A, Barrau-Martinez B, Pané A, López Galera RM, Tobias E, Montserrat-Carbonell C, Guitart-Mampel M, Jáuregui O, Roca-Vives R, Garcia-Villoria J, Milisenda JC, Matas-Garcia A, Forga Visa MT, Moreno Lozano PJ, Garrabou G, Urpi-Sarda M, Llorach R; Consortium PKU.cat. Gonzalez-Rodriguez A, et al. Among authors: garcia villoria j. Int J Mol Sci. 2025 Dec 6;26(24):11808. doi: 10.3390/ijms262411808. Int J Mol Sci. 2025. PMID: 41465241 Free PMC article.
Neonatal Screening for Inherited Metabolic Diseases in 2016.
Villoria JG, Pajares S, López RM, Marin JL, Ribes A. Villoria JG, et al. Semin Pediatr Neurol. 2016 Nov;23(4):257-272. doi: 10.1016/j.spen.2016.11.001. Epub 2016 Nov 16. Semin Pediatr Neurol. 2016. PMID: 28284388 Review.
Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review.
Pané A, Milad C, Santana-Domínguez M, Baños N, Borras-Novell C, Espinosa G, Magnano L, Nomdedeu M, Moreno-Lozano PJ, Cofan F, Placeres M, Fernández RM, García-Villoria J, Garrabou G, Vinagre I, Tanner LM, Montserrat-Carbonell C, Forga-Visa MT. Pané A, et al. Among authors: garcia villoria j. J Clin Med. 2023 Oct 8;12(19):6405. doi: 10.3390/jcm12196405. J Clin Med. 2023. PMID: 37835050 Free PMC article. Review.
75 results