TitleDateAuthorsDOI
Tetracycline resistance transmission in Campylobacter is promoted at temperatures resembling the avian reservoir2020-05-01Cuevas-Ferrando, E; Guirado, P; Miró, E; Iglesias-Torrens, Y; Navarro, F; Alioto, TS; Gómez-Garrido, J; Madrid, C; Balsalobre, C (2020). Tetracycline resistance transmission in Campylobacter is promoted at temperatures resembling the avian reservoir. Veterinary Microbiology, 244(), 108652-. DOI: 10.1016/j.vetmic.2020.108652https://doi.org/10.1016/j.vetmic.2020.108652
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing2020-05-01Batlle-Masó, L; Mensa-Vilaró, A; Solís-Moruno, M; Marquès-Bonet, T; Arostegui, JI; Casals, F (2020). Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing. European Journal Of Medical Genetics, 63(5), 103920-. DOI: 10.1016/j.ejmg.2020.103920https://doi.org/10.1016/j.ejmg.2020.103920
Identification of tipifarnib sensitivity biomarkers in T-cell acute lymphoblastic leukemia and T-cell lymphoma2020-04-21Alonso-Alonso, R; Mondéjar, R; Martínez, N; García-Diaz, N; Pérez, C; Merino, D; Rodríguez, M; Esteve-Codina, A; Fuste, B; Gut, M; Burrows, F; Scholz, (2020). Identification of tipifarnib sensitivity biomarkers in T-cell acute lymphoblastic leukemia and T-cell lymphoma. Scientific Reports, 10(1), 6721-. DOI: 10.1038/s41598-020-63434-5https://doi.org/10.1038/s41598-020-63434-5
Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran2020-04-15Nilipour, Y; Fatehi, F; Sanatinia, S; Bradshaw, A; Duff, J; Lochmüller, H; Horvath, R; Nafissi, S (2020). Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. Journal Of The Neurological Sciences, 411(), 116707-. DOI: 10.1016/j.jns.2020.116707https://doi.org/10.1016/j.jns.2020.116707
A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome2020-04-01Permanyer, E; Laurie, S; Blasco-Lucas, A; Maldonado, G; Amador-Catalan, A; Ferrer-Curriu, G; Fuste, B; Perez, ML; Gonzalez-Alujas, T; Beltran, S; Coma (2020). A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome. European Journal Of Medical Genetics, 63(4), 103854-. DOI: 10.1016/j.ejmg.2020.103854https://doi.org/10.1016/j.ejmg.2020.103854
The dental proteome of Homo antecessor2020-04-01Welker, F; Ramos-Madrigal, J; Gutenbrunner, P; Mackie, M; Tiwary, S; Jersie-Christensen, RR; Chiva, C; Dickinson, MR; Kuhlwilm, M; de Manuel, M; Gelab (2020). The dental proteome of Homo antecessor. Nature, 580(7802), 235-+. DOI: 10.1038/s41586-020-2153-8https://doi.org/10.1038/s41586-020-2153-8
Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients2020-04-01Capitanio, D; Moriggi, M; Torretta, E; Barbacini, P; De Palma, S; Viganó, A; Lochmüller, H; Muntoni, F; Ferlini, A; Mora, M; Gelfi, C (2020). Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients. Journal Of Cachexia Sarcopenia And Muscle, 11(2), 547-563. DOI: 10.1002/jcsm.12527https://doi.org/10.1002/jcsm.12527
Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy2020-04-01Signorelli, M; Ayoglu, B; Johansson, C; Lochmüller, H; Straub, V; Muntoni, F; Niks, E; Tsonaka, R; Persson, A; Aartsma-Rus, A; Nilsson, P; Al-Khalili (2020). Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. Journal Of Cachexia Sarcopenia And Muscle, 11(2), 505-517. DOI: 10.1002/jcsm.12517https://doi.org/10.1002/jcsm.12517
Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene2020-04-01Bonanno, C; Rodolico, C; Töpf, A; Foti, FM; Liu, WW; Beeson, D; Toscano, A; Lochmuller, H (2020). Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene. Neuromuscular Disorders, 30(4), 336-339. DOI: 10.1016/j.nmd.2020.02.012https://doi.org/10.1016/j.nmd.2020.02.012
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment2020-03-18García-García, G; Sanchez-Navarro, I; Aller, E; Jaijo, T; Fuster-Garcia, C; Rodríguez-Munoz, A; Vallejo, E; Telleria, JJ; Vázquez, S; Beltrán, S; Derd (2020). Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment. Molecular Vision, 26(), 216-225https://doi.org/
Differential DNA methylation of vocal and facial anatomy genes in modern humans2020-03-04Gokhman, D; Nissim-Rafinia, M; Agranat-Tamir, L; Housman, G; García-Pérez, R; Lizano, E; Cheronet, O; Mallick, S; Nieves-Colón, MA; Li, H; Alpaslan-Ro (2020). Differential DNA methylation of vocal and facial anatomy genes in modern humans. Nature Communications, 11(1), 1189-. DOI: 10.1038/s41467-020-15020-6https://doi.org/10.1038/s41467-020-15020-6
The Dutch Y-chromosomal landscape2020-03-01Altena, E; Smeding, R; van der Gaag, KJ; Larmuseau, MHD; Decorte, R; Lao, O; Kayser, M; Kraaijenbrink, T; de Knijff, P (2020). The Dutch Y-chromosomal landscape. European Journal Of Human Genetics, 28(3), 287-299. DOI: 10.1038/s41431-019-0496-0https://doi.org/10.1038/s41431-019-0496-0
Impact of Chromosome Fusions on 3D Genome Organization and Gene Expression in Budding Yeast2020-03-01Di Stefano, M; Di Giovanni, F; Pozharskaia, V; Gomar-Alba, M; Bau, D; Carey, LB; Marti-Renom, MA; Mendoza, M (2020). Impact of Chromosome Fusions on 3D Genome Organization and Gene Expression in Budding Yeast. Genetics, 214(3), 651-667. DOI: 10.1534/genetics.119.302978https://doi.org/10.1534/genetics.119.302978
Plasmodium vivax Malaria Viewed through the Lens of an Eradicated European Strain2020-03-01van Dorp, L; Gelabert, P; Rieux, A; de Manuel, M; de-Dios, T; Gopalakrishnan, S; Caroe, C; Sandoval-Velasco, M; Fregel, R; Olalde, I; Escosa, R; Arand (2020). Plasmodium vivax Malaria Viewed through the Lens of an Eradicated European Strain. Molecular Biology And Evolution, 37(3), 773-785. DOI: 10.1093/molbev/msz264https://doi.org/10.1093/molbev/msz264
Severe neurodevelopmental disease caused by a homozygous TLK2 variant2020-03-01Töpf, A; Oktay, Y; Balaraju, S; Yilmaz, E; Sonmezler, E; Yis, U; Laurie, S; Thompson, R; Roos, A; MacArthur, DG; Yaramis, A; Güngör, S; Lochmüller, H; (2020). Severe neurodevelopmental disease caused by a homozygous TLK2 variant. European Journal Of Human Genetics, 28(3), 383-387. DOI: 10.1038/s41431-019-0519-xhttps://doi.org/10.1038/s41431-019-0519-x
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant2020-03-01Balaraju, S; Töpf, A; McMacken, G; Kumar, VP; Pechmann, A; Roper, H; Vengalil, S; Polavarapu, K; Nashi, S; Mahajan, NP; Barbosa, IA; Deshpande, C; Tay (2020). Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. European Journal Of Human Genetics, 28(3), 373-377. DOI: 10.1038/s41431-019-0506-2https://doi.org/10.1038/s41431-019-0506-2
Phylogenomics Identifies an Ancestral Burst of Gene Duplications Predating the Diversification of Aphidomorpha2020-03-01Julca, I; Marcet-Houben, M; Cruz, F; Vargas-Chavez, C; Johnston, JS; Gómez-Garrido, J; Frias, L; Corvelo, A; Loska, D; Cámara, F; Gut, M; Alioto, T; L (2020). Phylogenomics Identifies an Ancestral Burst of Gene Duplications Predating the Diversification of Aphidomorpha. Molecular Biology And Evolution, 37(3), 730-756. DOI: 10.1093/molbev/msz261https://doi.org/10.1093/molbev/msz261
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing2020-03-01Cortés-Ciriano, I; Lee, JJK; Xi, RB; Jain, D; Jung, YL; Yang, LX; Gordenin, D; Klimczak, LJ; Zhang, CZ; Pellman, DS; Park, PJ; Akdemir, KC; Alvarez, E (2020). Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing. Nature Genetics, 52(3), 331-+. DOI: 10.1038/s41588-019-0576-7https://doi.org/10.1038/s41588-019-0576-7
Comprehensive molecular characterization of mitochondrial genomes in human cancers2020-03-01Yuan, Y; Ju, YS; Kim, Y; Li, J; Wang, YM; Yoon, CJ; Yang, Y; Martincorena, I; Creighton, CJ; Weinstein, JN; Xu, YX; Han, L; Kim, HL; Nakagawa, H; Park (2020). Comprehensive molecular characterization of mitochondrial genomes in human cancers. Nature Genetics, 52(3), 342-+. DOI: 10.1038/s41588-019-0557-xhttps://doi.org/10.1038/s41588-019-0557-x
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition2020-03-01Rodriguez-Martin, B; Alvarez, EG; Baez-Ortega, A; Zamora, J; Supek, F; Demeulemeester, J; Santamarina, M; Ju, YS; Temes, J; Garcia-Souto, D; Detering, (2020). Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics, 52(3), 306-+. DOI: 10.1038/s41588-019-0562-0https://doi.org/10.1038/s41588-019-0562-0