TitleDateReferenceDOI
High degree of polyclonality hinders somatic mutation calling in lung brush samples of COPD cases and controls2019-12-27Thun, GA; Derdak, S; Castro-Giner, F; Apunte-Ramos, K; Agueda, L; Wjst, M; Boland, A; Deleuze, JF; Kolsum, U; Heiss-Neumann, MS; Nowinski, A; Gorecka, (2019). High degree of polyclonality hinders somatic mutation calling in lung brush samples of COPD cases and controls. Scientific Reports, 9(1), 20158-. DOI: 10.1038/s41598-019-56618-1https://doi.org/10.1038/s41598-019-56618-1
Enamel proteome shows that Gigantopithecus was an early diverging pongine2019-12-12Welker, F; Ramos-Madrigal, J; Kuhlwilm, M; Liao, W; Gutenbrunner, P; de Manuel, M; Samodova, D; Mackie, M; Allentoft, ME; Bacon, AM; Collins, MJ; Cox, (2019). Enamel proteome shows that Gigantopithecus was an early diverging pongine. Nature, 576(7786), 262-+. DOI: 10.1038/s41586-019-1728-8https://doi.org/10.1038/s41586-019-1728-8
The Genome Sequence of the Eastern Woodchuck (Marmota monax) - A Preclinical Animal Model for Chronic Hepatitis B2019-12-01Alioto, TS; Cruz, F; Gómez-Garrido, J; Triyatni, M; Gut, M; Frias, L; Esteve-Codina, A; Menne, S; Kiialainen, A; Kumpesa, N; Birzele, F; Schmucki, R; (2019). The Genome Sequence of the Eastern Woodchuck (Marmota monax) - A Preclinical Animal Model for Chronic Hepatitis B. G3-Genes Genomes Genetics, 9(12), 3943-3952. DOI: 10.1534/g3.119.400413https://doi.org/10.1534/g3.119.400413
Admixture in Mammals and How to Understand Its Functional Implications: On the Abundance of Gene Flow in Mammalian Species, Its Impact on the Genome, and Roads into a Functional Understanding2019-12-01Fontsere, C; de Manuel, M; Marques-Bonet, T; Kuhlwilm, M (2019). Admixture in Mammals and How to Understand Its Functional Implications: On the Abundance of Gene Flow in Mammalian Species, Its Impact on the Genome, and Roads into a Functional Understanding. Bioessays, 41(12), 1900123-. DOI: 10.1002/bies.201900123https://doi.org/10.1002/bies.201900123
Partially methylated domains are hypervariable in breast cancer and fuel widespread CpG island hypermethylation2019-12-01Brinkman, AB; Nik-Zainal, S; Simmer, F; Rodríguez-González, FG; Smid, M; Alexandrov, LB; Butler, A; Martink, S; Davies, H; Glodzik, D; Zou, XQ; Ramakr (2019). Partially methylated domains are hypervariable in breast cancer and fuel widespread CpG island hypermethylation. Nature Communications, 10(1), 1749-. DOI: 10.1038/s41467-019-09828-0https://doi.org/10.1038/s41467-019-09828-0
Topological Constraints in Eukaryotic Genomes and How They Can Be Exploited to Improve Spatial Models of Chromosomes2019-11-15Rosa, A; Di Stefano, M; Micheletti, C (2019). Topological Constraints in Eukaryotic Genomes and How They Can Be Exploited to Improve Spatial Models of Chromosomes. Frontiers In Molecular Biosciences, 6(), 127-. DOI: 10.3389/fmolb.2019.00127https://doi.org/10.3389/fmolb.2019.00127
Recurrent somatic mutations reveal new insights into consequences of mutagenic processes in cancer2019-11-01Stobbe, MD; Thun, GA; Diéguez-Docampo, A; Oliva, M; Whalley, JP; Raineri, E; Gut, IG (2019). Recurrent somatic mutations reveal new insights into consequences of mutagenic processes in cancer. Plos Computational Biology, 15(11), e1007496-. DOI: 10.1371/journal.pcbi.1007496https://doi.org/10.1371/journal.pcbi.1007496
Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries2019-10-11Higgs, C; Hilbert, JE; Wood, L; Martens, WB; Marini-Bettolo, C; Nikolenko, N; Alsaggaf, R; Lochmüller, H; Moxley, RT; Greene, MH; Wang, YJ; Gadalla, S (2019). Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries. Frontiers In Neurology, 10(), 1071-. DOI: 10.3389/fneur.2019.01071https://doi.org/10.3389/fneur.2019.01071
Nucleosome Dynamics: a new tool for the dynamic analysis of nucleosome positioning2019-10-10Buitrago, D; Codó, L; Illa, R; de Jorge, P; Battistini, F; Flores, O; Bayarri, G; Royo, R; Del Pino, M; Heath, S; Hospital, A; Gelpí, JL; Heath, IB; O (2019). Nucleosome Dynamics: a new tool for the dynamic analysis of nucleosome positioning. Nucleic Acids Research, 47(18), 9511-9523. DOI: 10.1093/nar/gkz759https://doi.org/10.1093/nar/gkz759
Reconstruction of protein domain evolution using single-cell amplified genomes of uncultured choanoflagellates sheds light on the origin of animals2019-10-07López-Escardó, D; Grau-Bové, X; Guillaumet-Adkins, A; Gut, M; Sieracki, ME; Ruiz-Trillo, I (2019). Reconstruction of protein domain evolution using single-cell amplified genomes of uncultured choanoflagellates sheds light on the origin of animals. Philosophical Transactions Of The Royal Society B-Biological Sciences, 374(1786), 20190088-. DOI: 10.1098/rstb.2019.0088https://doi.org/10.1098/rstb.2019.0088
CRISPR editing of sftb-1/SF3B1 in Caenorhabditis elegans allows the identification of synthetic interactions with cancer-related mutations and the chemical inhibition of splicing.2019-10-01Serrat, X; Kukhtar, D; Cornes, E; Esteve-Codina, A; Benlloch, H; Cecere, G; Cerón, J (2019). CRISPR editing of sftb-1/SF3B1 in Caenorhabditis elegans allows the identification of synthetic interactions with cancer-related mutations and the chemical inhibition of splicing.. Plos Genetics, 15(10), e1008464-. DOI: 10.1371/journal.pgen.1008464https://doi.org/10.1371/journal.pgen.1008464
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