TitleDateReferenceDOI
Blueprint of human thymopoiesis reveals molecular mechanisms of stage-specific TCR enhancer activation2020-09-01Cieslak, A; Charbonnier, G; Tesio, M; Mathieu, EL; Belhocine, M; Touzart, A; Smith, C; Hypolite, G; Andrieu, GP; Martens, JHA; Janssen-Megens, E; Gut, (2020). Blueprint of human thymopoiesis reveals molecular mechanisms of stage-specific TCR enhancer activation. Journal Of Experimental Medicine, 217(9), e20192360-. DOI: 10.1084/jem.20192360https://doi.org/10.1084/jem.20192360
Sex differences in oncogenic mutational processes2020-08-28Li, CH; Prokopec, SD; Sun, RX; Yousif, F; Schmitz, N; Boutros, PC (2020). Sex differences in oncogenic mutational processes. Nature Communications, 11(1), 4330-8837. DOI: 10.1038/s41467-020-17359-2https://doi.org/10.1038/s41467-020-17359-2
Circular DNA intermediates in the generation of large human segmental duplications2020-08-26Chicote, JU; López-Sánchez, M; Marquès-Bonet, T; Callizo, J; Pérez-Jurado, LA; García-España, A (2020). Circular DNA intermediates in the generation of large human segmental duplications. Bmc Genomics, 21(1), 593-. DOI: 10.1186/s12864-020-06998-whttps://doi.org/10.1186/s12864-020-06998-w
Alternative Enhancer Usage and Targeted Polycomb Marking Hallmark Promoter Choice during T Cell Differentiation2020-08-18Maqbool, MA; Pioger, L; El Aabidine, AZ; Karasu, N; Molitor, AM; Dao, LTM; Charbonnier, G; van Laethem, F; Fenouil, R; Koch, F; Lacaud, G; Gut, I; Gut (2020). Alternative Enhancer Usage and Targeted Polycomb Marking Hallmark Promoter Choice during T Cell Differentiation. Cell Reports, 32(7), 108048-. DOI: 10.1016/j.celrep.2020.108048https://doi.org/10.1016/j.celrep.2020.108048
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome2020-08-12Atalaia, A; Thompson, R; Corvo, A; Carmody, L; Piscia, D; Matalonga, L; Macaya, A; Lochmuller, A; Fontaine, B; Zurek, B; Hernandez-Ferrer, C; Rheinard (2020). A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. Orphanet Journal Of Rare Diseases, 15(1), 206-. DOI: 10.1186/s13023-020-01493-7https://doi.org/10.1186/s13023-020-01493-7
Case Report: Benign Infantile Seizures Temporally Associated With COVID-192020-08-06García-Howard, M; Herranz-Aguirre, M; Moreno-Galarraga, L; Urretavizcaya-Martínez, M; Alegría-Echauri, J; Gorría-Redondo, N; Planas-Serra, L; Schlüter (2020). Case Report: Benign Infantile Seizures Temporally Associated With COVID-19. Frontiers In Pediatrics, 8(), 507-. DOI: 10.3389/fped.2020.00507https://doi.org/10.3389/fped.2020.00507
3D mapping and accelerated super-resolution imaging of the human genome using in situ sequencing2020-08-01Nguyen, HQ; Chattoraj, S; Castillo, D; Nguyen, SC; Nir, G; Lioutas, A; Hershberg, EA; Martins, NMC; Reginato, PL; Hannan, M; Beliveau, BJ; Church, GM; (2020). 3D mapping and accelerated super-resolution imaging of the human genome using in situ sequencing. Nature Methods, 17(8), 822-+. DOI: 10.1038/s41592-020-0890-0https://doi.org/10.1038/s41592-020-0890-0
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG2020-08-01Paketci, C; Edem, P; Hiz, S; Sonmezler, E; Soydemir, D; Uzan, GS; Oktay, Y; O'Heir, E; Beltran, S; Laurie, S; Töpf, A; Lochmuller, H; Horvath, R; Yis, (2020). Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. Brain & Development, 42(7), 539-545. DOI: 10.1016/j.braindev.2020.04.008https://doi.org/10.1016/j.braindev.2020.04.008
The Polycomb-associated factor PHF19 controls hematopoietic stem cell state and differentiation2020-08-01Vizán, P; Gutiérrez, A; Espejo, I; García-Montolio, M; Lange, M; Carretero, A; Lafzi, A; de Andrés-Aguayo, L; Blanco, E; Thambyrajah, R; Graf, T; Heyn (2020). The Polycomb-associated factor PHF19 controls hematopoietic stem cell state and differentiation. Science Advances, 6(32), eabb2745-. DOI: 10.1126/sciadv.abb2745https://doi.org/10.1126/sciadv.abb2745
Tracking of Antibiotic Resistance Transfer and Rapid Plasmid Evolution in a Hospital Setting by Nanopore Sequencing2020-08-01Peter, S; Bosio, M; Gross, C; Bezdan, D; Gutierrez, J; Oberhettinger, P; Liese, J; Vogel, W; Dörfel, D; Berger, L; Marschal, M; Willmann, M; Gut, I; G (2020). Tracking of Antibiotic Resistance Transfer and Rapid Plasmid Evolution in a Hospital Setting by Nanopore Sequencing. Msphere, 5(4), e00525-20-. DOI: 10.1128/mSphere.00525-20https://doi.org/10.1128/mSphere.00525-20
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features2020-08-01Lim, AZ; McMacken, G; Rastelli, F; Olahova, M; Baty, K; Hopton, S; Falkous, G; Töpf, A; Lochmüller, H; Marini-Bettolo, C; McFarland, R; Taylor, RW (2020). A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features. Neuromuscular Disorders, 30(8), 661-668. DOI: 10.1016/j.nmd.2020.06.008https://doi.org/10.1016/j.nmd.2020.06.008
Hi-C chromosome conformation capture sequencing of avian genomes using the BGISEQ-500 platform2020-08-01Sandoval-Velasco, M; Rodríguez, JA; Estrada, CP; Zhang, GJ; Aiden, EL; Marti-Renom, MA; Gilbert, MTP; Smith, O (2020). Hi-C chromosome conformation capture sequencing of avian genomes using the BGISEQ-500 platform. Gigascience, 9(8), giaa087-. DOI: 10.1093/gigascience/giaa087https://doi.org/10.1093/gigascience/giaa087
Targeted conservation genetics of the endangered chimpanzee2020-08-01Frandsen, P; Fontsere, C; Nielsen, SV; Hanghoj, K; Castejon-Fernandez, N; Lizano, E; Hughes, D; Hernandez-Rodriguez, J; Korneliussen, TS; Carlsen, F; (2020). Targeted conservation genetics of the endangered chimpanzee. Heredity, 125(1-2), 15-27. DOI: 10.1038/s41437-020-0313-0https://doi.org/10.1038/s41437-020-0313-0
Immune Cell Associations with Cancer Risk2020-07-24Palomero, L; Galván-Femenía, I; de Cid, R; Espín, R; Barnes, DR; Blommaert, E; Gil-Gil, M; Falo, C; Stradella, A; Ouchi, D; Roso-Llorach, A; Violan, C (2020). Immune Cell Associations with Cancer Risk. Iscience, 23(7), 101296-. DOI: 10.1016/j.isci.2020.101296https://doi.org/10.1016/j.isci.2020.101296
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy2020-07-03Passarelli, C; Selvatici, R; Carrieri, A; Di Raimo, FR; Falzarano, MS; Fortunato, F; Rossi, R; Straub, V; Bushby, K; Reza, M; Zharaieva, I; D'Amico, A (2020). Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. Frontiers In Genetics, 11(), 605-. DOI: 10.3389/fgene.2020.00605https://doi.org/10.3389/fgene.2020.00605
A SMAD1/5-YAP signaling module drives radial glia self-amplification and growth of the developing cerebral cortex2020-07-01Najas, S; Pijuan, I; Esteve-Codina, A; Usieto, S; Martinez, JD; Zwijsen, A; Arbonés, ML; Martí, E; Le Dréau, G (2020). A SMAD1/5-YAP signaling module drives radial glia self-amplification and growth of the developing cerebral cortex. Development, 147(13), dev187005-. DOI: 10.1242/dev.187005https://doi.org/10.1242/dev.187005
CTCF is dispensable for immune cell transdifferentiation but facilitates an acute inflammatory response2020-07-01Stik, G; Vidal, E; Barrero, M; Cuartero, S; Vila-Casadesus, M; Mendieta-Esteban, J; Tian, TV; Choi, J; Berenguer, C; Abad, A; Borsari, B; le Dily, F; (2020). CTCF is dispensable for immune cell transdifferentiation but facilitates an acute inflammatory response. Nature Genetics, 52(7), 655-+. DOI: 10.1038/s41588-020-0643-0https://doi.org/10.1038/s41588-020-0643-0
Use of patient derived orthotopic xenograft models for real-time therapy guidance in a pediatric sporadic malignant peripheral nerve sheath tumor2020-07-01Fernández-Rodríguez, J; La Madrid, AM; Gel, B; Heredia, AC; Salvador, H; Martínez-Iniesta, M; Moutinho, C; Morata, J; Heyn, H; Blanco, I; Creus-Bachil (2020). Use of patient derived orthotopic xenograft models for real-time therapy guidance in a pediatric sporadic malignant peripheral nerve sheath tumor. Therapeutic Advances In Medical Oncology, 12(), 1758835920929579-. DOI: 10.1177/1758835920929579https://doi.org/10.1177/1758835920929579
Arctic-adapted dogs emerged at the Pleistocene-Holocene transitiond2020-06-26Sinding, MHS; Gopalakrishnan, S; Ramos-Madrigal, J; de Manuel, M; Pitulko, VV; Kuderna, L; Feuerborn, TR; Frantz, LAF; Vieira, FG; Niemann, J; Castrui (2020). Arctic-adapted dogs emerged at the Pleistocene-Holocene transitiond. Science, 368(6498), 1495-+. DOI: 10.1126/science.aaz8599https://doi.org/10.1126/science.aaz8599
Active and repressed biosynthetic gene clusters have spatially distinct chromosome states2020-06-16Nützmann, HW; Doerr, D; Ramírez-Colmenero, A; Sotelo-Fonseca, JE; Wegel, E; Di Stefano, M; Wingett, SW; Fraser, P; Hurst, L; Fernandez-Valverde, SL; O (2020). Active and repressed biosynthetic gene clusters have spatially distinct chromosome states. Proceedings Of The National Academy Of Sciences Of The United States Of America, 117(24), 13800-13809. DOI: 10.1073/pnas.1920474117https://doi.org/10.1073/pnas.1920474117