TitleDateReferenceDOI
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
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany2019-06-24König, K; Pechmann, A; Thiele, S; Walter, MC; Schorling, D; Tassoni, A; Lochmüller, H; Müller-Reible, C; Kirschner, J (2019). De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany. Orphanet Journal Of Rare Diseases, 14(1), 152-. DOI: 10.1186/s13023-019-1125-2https://doi.org/10.1186/s13023-019-1125-2
Specific Contributions of Cohesin-SA1 and Cohesin-SA2 to TADs and Polycomb Domains in Embryonic Stem Cells2019-06-18Cuadrado, A; Giménez-Llorente, D; Kojic, A; Rodríguez-Corsino, M; Cuartero, Y; Martín-Serrano, G; Gómez-López, G; Marti-Renom, MA; Losada, A (2019). Specific Contributions of Cohesin-SA1 and Cohesin-SA2 to TADs and Polycomb Domains in Embryonic Stem Cells. Cell Reports, 27(12), 3500-+. DOI: 10.1016/j.celrep.2019.05.078https://doi.org/10.1016/j.celrep.2019.05.078
PD-1 signaling affects cristae morphology and leads to mitochondrial dysfunction in human CD8+ T lymphocytes2019-06-13Ogando, J; Sáez, ME; Santos, J; Nuevo-Tapioles, C; Gut, M; Esteve-Codina, A; Heath, S; González-Pérez, A; Cuezva, JM; Lacalle, RA; Mañes, S (2019). PD-1 signaling affects cristae morphology and leads to mitochondrial dysfunction in human CD8+ T lymphocytes. Journal For Immunotherapy Of Cancer, 7(1), 151-. DOI: 10.1186/s40425-019-0628-7https://doi.org/10.1186/s40425-019-0628-7
Single-cell transcriptomics unveils gene regulatory network plasticity2019-06-04Iacono, G; Massoni-Badosa, R; Heyn, H (2019). Single-cell transcriptomics unveils gene regulatory network plasticity. Genome Biology, 20(1), 110-. DOI: 10.1186/s13059-019-1713-4https://doi.org/10.1186/s13059-019-1713-4
Systems analysis reveals complex biological processes during virus infection fate decisions2019-06-01Argilaguet, J; Pedragosa, M; Esteve-Codina, A; Riera, G; Vidal, E; Peligero-Cruz, C; Casella, V; Andreu, D; Kaisho, T; Bocharov, G; Ludewig, B; Heath, (2019). Systems analysis reveals complex biological processes during virus infection fate decisions. Genome Research, 29(6), 907-919. DOI: 10.1101/gr.241372.118https://doi.org/10.1101/gr.241372.118
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations2019-06-01Cruz, PMR; Cossins, J; Estephan, ED; Munell, F; Selby, K; Hirano, M; Maroofin, R; Mehrjardi, MYV; Chow, G; Carr, A; Manzur, A; Robb, S; Munot, P; Liu, (2019). The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain, 142(6), 1547-1560. DOI: 10.1093/brain/awz107https://doi.org/10.1093/brain/awz107
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings2019-06-01Carrera-García, L; Natera-de Benito, D; Dieterich, K; de la Banda, MGG; Felter, A; Inarejos, E; Codina, A; Jou, C; Roldan, M; Palau, F; Hoenicka, J; P (2019). CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. American Journal Of Medical Genetics Part a, 179(6), 915-926. DOI: 10.1002/ajmg.a.61122https://doi.org/10.1002/ajmg.a.61122
Unraveling the cellular origin and clinical prognostic markers of infant B-cell acute lymphoblastic leukemia using genome-wide analysis2019-05-31Agraz-Doblas, A; Bueno, C; Bashford-Rogers, R; Roy, A; Schneider, P; Bardini, M; Ballerini, P; Cazzaniga, G; Moreno, T; Revilla, C; Gut, M; Valsecchi, (2019). Unraveling the cellular origin and clinical prognostic markers of infant B-cell acute lymphoblastic leukemia using genome-wide analysis. Haematologica, 104(6), 1176-1188. DOI: 10.3324/haematol.2018.206375https://doi.org/10.3324/haematol.2018.206375
Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series2019-05-30Fages, A; Hanghoj, K; Khan, N; Gaunitz, C; Seguin-Orlando, A; Leonardi, M; Constantz, CM; Gamba, C; Al-Rasheid, KAS; Albizuri, S; Alfarhan, AH; Allent (2019). Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series. Cell, 177(6), 1419-+. DOI: 10.1016/j.cell.2019.03.049https://doi.org/10.1016/j.cell.2019.03.049