TitleDateAuthorsDOI
A chromosome-level genome assembly enables the identification of the follicule stimulating hormone receptor as the master sex-determining gene in the flatfish Solea senegalensis2023-05-01de la Herran, R; Hermida, M; Rubiolo, JA; Gomez-Garrido, J; Cruz, F; Robles, F; Navajas-Perez, R; Blanco, A; Villamayor, PR; Torres, D; Sanchez-Quinte (2023). A chromosome-level genome assembly enables the identification of the follicule stimulating hormone receptor as the master sex-determining gene in the flatfish Solea senegalensis. Molecular Ecology Resources, 23(4), 886-904. DOI: 10.1111/1755-0998.13750https://doi.org/10.1111/1755-0998.13750
Dissecting the Origin of Heterogeneity in Uterine and Ovarian Carcinosarcomas2023-05-01Sertier, AS; Ferrari, A; Pommier, RM; Treilleux, I; Boyault, S; Devouassoux-Shisheboran, M; Kielbassa, J; Thomas, E; Tonon, L; Le Texier, V; Charreton (2023). Dissecting the Origin of Heterogeneity in Uterine and Ovarian Carcinosarcomas. Cancer Research Communications, 3(5), 830-841. DOI: 10.1158/2767-9764.crc-22-0520https://doi.org/10.1158/2767-9764.CRC-22-0520
Evolutionary constraint and innovation across hundreds of placental mammals2023-04-28Christmas, MJ; Kaplow, IM; Genereux, DP; Dong, MX; Hughes, GM; Li, X; Sullivan, PF; Hindle, AG; Andrews, G; Armstrong, JC; Bianchi, M; Breit, AM; Diek (2023). Evolutionary constraint and innovation across hundreds of placental mammals. Science, 380(6643), 366-+. DOI: 10.1126/science.abn3943https://doi.org/10.1126/science.abn3943
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning2023-04-28Kaplow, IM; Lawler, AJ; Schäffer, DE; Srinivasan, C; Sestili, HH; Wirthlin, ME; Phan, BN; Prasad, K; Brown, AR; Zhang, XM; Foley, K; Genereux, DP; Kar (2023). Relating enhancer genetic variation across mammals to complex phenotypes using machine learning. Science, 380(6643), 364-+. DOI: 10.1126/SCIENCE.ABM7993https://doi.org/10.1126/SCIENCE.ABM7993
Integrating gene annotation with orthology inference at scale2023-04-28Kirilenko, BM; Munegowda, C; Osipova, E; Jebb, D; Sharma, V; Blumer, M; Morales, AE; Ahmed, AW; Kontopoulos, DG; Hilgers, L; Lindblad-Toh, K; Karlsson (2023). Integrating gene annotation with orthology inference at scale. Science, 380(6643), eabn3107-+. DOI: 10.1126/SCIENCE.ABN3107https://doi.org/10.1126/SCIENCE.ABN3107
The contribution of historical processes to contemporary extinction risk in placental mammals2023-04-28Wilder, AP; Supple, MA; Subramanian, A; Mudide, A; Swofford, R; Serres-Armero, A; Steiner, C; Koepfli, KP; Genereux, DP; Karlsson, EK; Lindblad-Toh, K (2023). The contribution of historical processes to contemporary extinction risk in placental mammals. Science, 380(6643), 372-+. DOI: 10.1126/science.abn5856https://doi.org/10.1126/science.abn5856
Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs2023-04-28Moon, KL; Huson, HJ; Morrill, K; Wang, MS; Li, X; Srikanth, K; Lindblad-Toh, K; Svenson, GJ; Karlsson, EK; Shapiro, B (2023). Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs. Science, 380(6643), eabn5887-. DOI: 10.1126/SCIENCE.ABN5887https://doi.org/10.1126/SCIENCE.ABN5887
The functional and evolutionary impacts of human-specific deletions in conserved elements2023-04-28Xue, JR; Mackay-Smith, A; Mouri, K; Garcia, MF; Dong, MX; Akers, JF; Noble, M; Li, X; Lindblad-Toh, K; Karlsson, EK; Noonan, JP; Capellini, TD; Brenna (2023). The functional and evolutionary impacts of human-specific deletions in conserved elements. Science, 380(6643), eabn2253-+. DOI: 10.1126/SCIENCE.ABN2253https://doi.org/10.1126/SCIENCE.ABN2253
Three-dimensional genome rewiring in loci with human accelerated regions2023-04-28Keough, KC; Whalen, S; Inoue, F; Przytycki, PF; Fair, T; Deng, CY; Steyert, M; Ryu, H; Lindblad-Toh, K; Karlsson, E; Nowakowski, T; Ahituv, N; Pollen, (2023). Three-dimensional genome rewiring in loci with human accelerated regions. Science, 380(6643), eabm1696-+. DOI: 10.1126/SCIENCE.ABM1696https://doi.org/10.1126/SCIENCE.ABM1696
Leveraging base-pair mammalian constraint to understand genetic variation and human disease2023-04-28Sullivsn, PF; Meadows, JRS; Gazal, S; Phan, BN; Li, X; Genereux, DP; Dong, MX; Bianchi, M; Andrews, G; Sakthikumar, S; Nordin, J; Roy, A; Christmas, M (2023). Leveraging base-pair mammalian constraint to understand genetic variation and human disease. Science, 380(6643), eabn2937-+. DOI: 10.1126/SCIENCE.ABN2937https://doi.org/10.1126/SCIENCE.ABN2937
Insights into mammalian TE diversity through the curation of 248 genome assemblies2023-04-28Osmanski, AB; Paulat, NS; Korstian, J; Grimshaw, JR; Halsey, M; Sullivan, KAM; Moreno-Santillán, DD; Crookshanks, C; Roberts, J; Garcia, C; Johnson, M (2023). Insights into mammalian TE diversity through the curation of 248 genome assemblies. Science, 380(6643), eabn1430-+. DOI: 10.1126/SCIENCE.ABN1430https://doi.org/10.1126/SCIENCE.ABN1430
Mammalian evolution of human cis-regulatory elements and transcription factor binding sites2023-04-28Andrews, G; Fan, K; Pratt, HE; Phalke, N; Karlsson, EK; Lindblad-Toh, K; Gazal, S; Moore, JE; Weng, ZP (2023). Mammalian evolution of human cis-regulatory elements and transcription factor binding sites. Science, 380(6643), eabn7930-. DOI: 10.1126/SCIENCE.ABN7930https://doi.org/10.1126/SCIENCE.ABN7930
De novo transcriptome sequencing and gene co-expression reveal a genomic basis for drought sensitivity and evidence of a rapid local adaptation on Atlas cedar (Cedrus atlantica)2023-04-19Cobo-Simon, I; Gomez-Garrido, J; Esteve-Codina, A; Dabad, M; Alioto, T; Maloof, JN; Mendez-Cea, B; Seco, JI; Linares, JC; Gallego, FJ (2023). De novo transcriptome sequencing and gene co-expression reveal a genomic basis for drought sensitivity and evidence of a rapid local adaptation on Atlas cedar (Cedrus atlantica). Frontiers In Plant Science, 14(), 1116863-. DOI: 10.3389/fpls.2023.1116863https://doi.org/10.3389/fpls.2023.1116863
MYC activation impairs cell-intrinsic IFNy signaling and confers resistance to anti-PD1/PD-L1 therapy in lung cancer2023-04-18Alburquerque-Bejar, JJ; Navajas-Chocarro, P; Saigi, M; Ferrero-Andres, A; Morillas, JM; Vilarrubi, A; Gomez, A; Mate, J; Munoz-Marmol, AM; Romero, OA; (2023). MYC activation impairs cell-intrinsic IFNy signaling and confers resistance to anti-PD1/PD-L1 therapy in lung cancer. Cell Reports Medicine, 4(4), 101006-. DOI: 10.1016/j.xcrm.2023.101006https://doi.org/10.1016/j.xcrm.2023.101006
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-192023-04-05Matuozzo, D; Talouarn, E; Marchal, A; Zhang, P; Manry, J; Seeleuthner, Y; Zhang, Y; Bolze, A; Chaldebas, M; Milisavljevic, B; Gervais, A; Bastard, P; (2023). Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome Medicine, 15(1), 22-. DOI: 10.1186/s13073-023-01173-8https://doi.org/10.1186/s13073-023-01173-8
Stress decreases spermatozoa quality and induces molecular alterations in zebrafish progeny2023-04-03Valcarce, DG; Riesco, MF; Cuesta-Martin, L; Esteve-Codina, A; Martinez-Vazquez, JM; Robles, V (2023). Stress decreases spermatozoa quality and induces molecular alterations in zebrafish progeny. Bmc Biology, 21(1), 70-. DOI: 10.1186/s12915-023-01570-whttps://doi.org/10.1186/s12915-023-01570-w
Unravelling inclusion body myositis using a patient-derived fibroblast model2023-04-01Canto-Santos, J; Valls-Roca, L; Tobias, E; Garcia-Garcia, FJ; Guitart-Mampel, M; Esteve-Codina, A; Martin-Mur, B; Casado, M; Artuch, R; Solsona-Vilarr (2023). Unravelling inclusion body myositis using a patient-derived fibroblast model. Journal Of Cachexia Sarcopenia And Muscle, 14(2), 964-977. DOI: 10.1002/jcsm.13178https://doi.org/10.1002/jcsm.13178
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023-04-01Denomme-Pichon, AS; Matalonga, L; de Boer, E; Jackson, A; Benetti, E; Banka, S; Bruel, AL; Ciolfi, A; Clayton-Smith, J; Dallapiccola, B; Duffourd, Y; (2023). A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genetics In Medicine, 25(4), 100018-. DOI: 10.1016/j.gim.2023.100018https://doi.org/10.1016/j.gim.2023.100018
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy2023-04-01Codina, A; Roldan, M; Natera-de Benito, D; Ortez, C; Planas, R; Matalonga, L; Cuadras, D; Carrera, L; Exposito, J; Marquez, J; Jimenez-Mallebrera, C; (2023). Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy. International Journal Of Molecular Sciences, 24(7), 6358-. DOI: 10.3390/ijms24076358https://doi.org/10.3390/ijms24076358
CPT1A in AgRP neurons is required for sex-dependent regulation of feeding and thirst2023-03-25Zagmutt, S; Mera, P; Gonzalez-Garcia, I; Ibeas, K; Romero, MD; Obri, A; Martin, B; Esteve-Codina, A; Soler-Vazquez, MC; Bastias-Perez, M; Canes, L; Au (2023). CPT1A in AgRP neurons is required for sex-dependent regulation of feeding and thirst. Biology Of Sex Differences, 14(1), 14-. DOI: 10.1186/s13293-023-00498-8https://doi.org/10.1186/s13293-023-00498-8