TitleDateAuthorsDOI
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder2019-10-01Thompson, R; Ntalis, AP; Beltran, S; Töpf, A; Estephan, ED; Polavarapu, K; Hoen, PAC; Missier, P; Lochmüller, H (2019). Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Human Mutation, 40(10), 1797-1812. DOI: 10.1002/humu.23792https://doi.org/10.1002/humu.23792
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.2019-10-01Tort, F; Ugarteburu, O; Texidó, L; Gea-Sorlí, S; García-Villoria, J; Ferrer-Cortès, X; Arias, A; Matalonga, L; Gort, L; Ferrer, I; Guitart-Mampel, M; (2019). Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.. Human Mutation, 40(10), 1700-1712. DOI: 10.1002/humu.23779https://doi.org/10.1002/humu.23779
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy2019-10-01Fernandez-Marmiesse, A; Sánchez-Iglesias, S; Darling, A; O'Callaghan, MM; Tonda, R; Jou, C; Araújo-Vilar, D (2019). A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy. Seizure-European Journal Of Epilepsy, 71(), 161-165. DOI: 10.1016/j.seizure.2019.07.019https://doi.org/10.1016/j.seizure.2019.07.019
Reconstructing Denisovan Anatomy Using DNA Methylation Maps2019-09-19Gokhman, D; Mishol, N; de Manuel, M; de Juan, D; Shuqrun, J; Meshorer, E; Marques-Bonet, T; Rak, Y; Carmel, L (2019). Reconstructing Denisovan Anatomy Using DNA Methylation Maps. Cell, 179(1), 180-+. DOI: 10.1016/j.cell.2019.08.035https://doi.org/10.1016/j.cell.2019.08.035
GATA2 Promotes Hematopoietic Development and Represses Cardiac Differentiation of Human Mesoderm2019-09-10Castano, J; Aranda, S; Bueno, C; Calero-Nieto, FJ; Mejia-Ramirez, E; Mosquera, JL; Blanco, E; Wang, X; Prieto, C; Zabaleta, L; Mereu, E; Rovira, M; Ji (2019). GATA2 Promotes Hematopoietic Development and Represses Cardiac Differentiation of Human Mesoderm. Stem Cell Reports, 13(3), 515-529. DOI: 10.1016/j.stemcr.2019.07.009https://doi.org/10.1016/j.stemcr.2019.07.009
Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes2019-09-01Torrico, B; Shaw, AD; Mosca, R; Vivó-Luque, N; Hervás, A; Fernàndez-Castillo, N; Aloy, P; Bayés, M; Fullerton, JM; Cormand, B; Toma, C (2019). Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes. Journal Of Psychiatry & Neuroscience, 44(5), 350-359. DOI: 10.1503/jpn.180184https://doi.org/10.1503/jpn.180184
Pheno-seq - linking visual features and gene expression in 3D cell culture systems2019-08-26Tirier, SM; Park, J; Preusser, F; Amrhein, L; Gu, ZG; Steiger, S; Mallm, JP; Krieger, T; Waschow, M; Eismann, B; Gut, M; Gut, IG; Rippe, K; Schlesner, (2019). Pheno-seq - linking visual features and gene expression in 3D cell culture systems. Scientific Reports, 9(1), 12367-. DOI: 10.1038/s41598-019-48771-4https://doi.org/10.1038/s41598-019-48771-4
Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity.2019-08-15Gómez-Miragaya, J; Díaz-Navarro, A; Tonda, R; Beltran, S; Palomero, L; Palafox, M; Dobrolecki, LE; Huang, C; Vasaikar, S; Zhang, B; Wulf, GM; Collado- (2019). Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity.. Cancer Research, 79(16), 4258-4270. DOI: 10.1158/0008-5472.CAN-18-3835https://doi.org/10.1158/0008-5472.CAN-18-3835
De Novo Assembly and Annotation of the Larval Transcriptome of Two Spadefoot Toads Widely Divergent in Developmental Rate2019-08-01Liedtke, HC; Garrido, JG; Esteve-Codina, A; Gut, M; Alioto, T; Gomez-Mestre, I (2019). De Novo Assembly and Annotation of the Larval Transcriptome of Two Spadefoot Toads Widely Divergent in Developmental Rate. G3-Genes Genomes Genetics, 9(8), 2647-2655. DOI: 10.1534/g3.119.400389https://doi.org/10.1534/g3.119.400389
Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish2019-08-01O'Connor, E; Cairns, G; Spendiff, S; Burns, D; Hettwer, S; Mäder, A; Müller, J; Horvath, R; Slater, C; Roos, A; Lochmüller, H (2019). Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish. Cells, 8(8), 848-. DOI: 10.3390/cells8080848https://doi.org/10.3390/cells8080848
Analysis of the functional capacity outcome measures for myotonic dystrophy2019-08-01Jimenez-Moreno, AC; Nikolenko, N; Kierkegaard, M; Blain, AP; Newman, J; Massey, C; Moat, D; Sodhi, J; Atalaia, A; Gorman, GS; Turner, C; Lochmüller, H (2019). Analysis of the functional capacity outcome measures for myotonic dystrophy. Annals Of Clinical And Translational Neurology, 6(8), 1487-1497. DOI: 10.1002/acn3.50845https://doi.org/10.1002/acn3.50845
Return to the Sea, Get Huge, Beat Cancer: An Analysis of Cetacean Genomes Including an Assembly for the Humpback Whale (Megaptera novaeangliae)2019-08-01Tollis, M; Robbins, J; Webb, AE; Kuderna, LFK; Caulin, AF; Garcia, JD; Bèrubè, M; Pourmand, N; Marques-Bonet, T; O'Connell, MJ; Palsboll, PJ; Maley, C (2019). Return to the Sea, Get Huge, Beat Cancer: An Analysis of Cetacean Genomes Including an Assembly for the Humpback Whale (Megaptera novaeangliae). Molecular Biology And Evolution, 36(8), 1746-1763. DOI: 10.1093/molbev/msz099https://doi.org/10.1093/molbev/msz099
Whole-genome DNA hyper-methylation in iPSC-derived dopaminergic neurons from Parkinson's disease patients.2019-07-23Fernández-Santiago, R; Merkel, A; Castellano, G; Heath, S; Raya, A; Tolosa, E; Martí, MJ; Consiglio, A; Ezquerra, M (2019). Whole-genome DNA hyper-methylation in iPSC-derived dopaminergic neurons from Parkinson's disease patients.. Clinical Epigenetics, 11(1), 108-. DOI: 10.1186/s13148-019-0701-6https://doi.org/10.1186/s13148-019-0701-6
Unravelling the mechanisms of PFOS toxicity by combining morphological and transcriptomic analyses in zebrafish embryos2019-07-15Martínez, R; Navarro-Martín, L; Luccarelli, C; Codina, AE; Raldúa, D; Barata, C; Tauler, R; Piña, B (2019). Unravelling the mechanisms of PFOS toxicity by combining morphological and transcriptomic analyses in zebrafish embryos. Science Of The Total Environment, 674(), 462-471. DOI: 10.1016/j.scitotenv.2019.04.200https://doi.org/10.1016/j.scitotenv.2019.04.200
Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome2019-07-15McMacken, GM; Spendiff, S; Whittaker, RG; O'Connor, E; Howarth, RM; Boczonadi, V; Horvath, R; Slater, CR; Lochmüller, H (2019). Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome. Human Molecular Genetics, 28(14), 2339-2351. DOI: 10.1093/hmg/ddz059https://doi.org/10.1093/hmg/ddz059
Three-Dimensional Genomic Structure and Cohesin Occupancy Correlate with Transcriptional Activity during Spermatogenesis2019-07-09Vara, C; Paytuví-Gallart, A; Cuartero, Y; Le Dily, F; Garcia, F; Salvà-Castro, J; Gómez-H, L; Julià, E; Moutinho, C; Cigliano, RA; Sanseverino, W; For (2019). Three-Dimensional Genomic Structure and Cohesin Occupancy Correlate with Transcriptional Activity during Spermatogenesis. Cell Reports, 28(2), 352-+. DOI: 10.1016/j.celrep.2019.06.037https://doi.org/10.1016/j.celrep.2019.06.037
Novel taxonomy-independent deep learning microbiome approach allows for accurate classification of different forensically relevant human epithelial materials2019-07-01López, CD; Vidaki, A; Ralf, A; González, DM; Radjabzadeh, D; Kraaij, R; Uitterlinden, AG; Haas, C; Lao, O; Kayser, M (2019). Novel taxonomy-independent deep learning microbiome approach allows for accurate classification of different forensically relevant human epithelial materials. Forensic Science International-Genetics, 41(), 72-82. DOI: 10.1016/j.fsigen.2019.03.015https://doi.org/10.1016/j.fsigen.2019.03.015
RNA proximity sequencing reveals the spatial organization of the transcriptome in the nucleus2019-07-01Morf, J; Wingett, SW; Farabella, I; Cairns, J; Furlan-Magaril, M; Jiménez-García, LF; Liu, X; Craig, FF; Walker, S; Segonds-Pichon, A; Andrews, S; Mar (2019). RNA proximity sequencing reveals the spatial organization of the transcriptome in the nucleus. Nature Biotechnology, 37(7), 793-+. DOI: 10.1038/s41587-019-0166-3https://doi.org/10.1038/s41587-019-0166-3
A Reference Genome Sequence for the European Silver Fir (Abies alba Mill.): A Community-Generated Genomic Resource2019-07-01Mosca, E; Cruz, F; Gómez-Garrido, J; Bianco, L; Rellstab, C; Brodbeck, S; Csilléry, K; Fady, B; Fladung, M; Fussi, B; Gömöry, D; González-Martínez, SC (2019). A Reference Genome Sequence for the European Silver Fir (Abies alba Mill.): A Community-Generated Genomic Resource. G3-Genes Genomes Genetics, 9(7), 2039-2049. DOI: 10.1534/g3.119.400083https://doi.org/10.1534/g3.119.400083
Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes2019-07-01Miguel-Escalada, I; Bonàs-Guarch, S; Cebola, I; Ponsa-Cobas, J; Mendieta-Esteban, J; Atla, G; Javierre, BM; Rolando, DMY; Farabella, I; Morgan, CC; Ga (2019). Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes. Nature Genetics, 51(7), 1137-+. DOI: 10.1038/s41588-019-0457-0https://doi.org/10.1038/s41588-019-0457-0