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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9.
Genome Med. 2022.
PMID: 35379322
Free PMC article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.
Bullich G, et al.
J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003.
J Mol Diagn. 2022.
PMID: 35569879
Free article.
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Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Muñoz-Pujol G, Alforja-Castiella S, Casaroli-Marano R, Morales-Romero B, García-Villoria J, Yépez VA, Gagneur J, Gusic M, Prokisch H, Tort F, Ribes A.
Muñoz-Pujol G, et al.
Int J Mol Sci. 2022 Oct 15;23(20):12367. doi: 10.3390/ijms232012367.
Int J Mol Sci. 2022.
PMID: 36293220
Free PMC article.
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Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F.
Muñoz-Pujol G, et al.
Brain Pathol. 2023 May;33(3):e13134. doi: 10.1111/bpa.13134. Epub 2022 Nov 30.
Brain Pathol. 2023.
PMID: 36450274
Free PMC article.
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Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
Arrabal L, Muñoz-Pujol G, Medina Martínez I, Gort L, García-Villoria J, Roldán S, Tort F, Ribes A.
Arrabal L, et al. Among authors: munoz pujol g.
Int J Mol Sci. 2023 Aug 1;24(15):12319. doi: 10.3390/ijms241512319.
Int J Mol Sci. 2023.
PMID: 37569695
Free PMC article.
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The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.
Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B; MITOSPAIN Working Group; Martín MA, Montoya J, Artuch R.
Bellusci M, et al.
Genes (Basel). 2021 Oct 9;12(10):1590. doi: 10.3390/genes12101590.
Genes (Basel). 2021.
PMID: 34680984
Free PMC article.
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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.
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CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch R, Fons C, Ribes A, Tort F.
Muñoz-Pujol G, et al.
J Inherit Metab Dis. 2023 Nov;46(6):1029-1042. doi: 10.1002/jimd.12681. Epub 2023 Oct 3.
J Inherit Metab Dis. 2023.
PMID: 37718653
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