TitleDateAuthorsDOI
Autoantibodies against type I IFNs in patients with life-threatening COVID-192020-10-23Bastard, P; Rosen, LB; Zhang, Q; Michailidis, E; Hoffmann, HH; Zhang, Y; Dorgham, K; Philippot, Q; Rosain, J; Béziat, V; Manry, J; Shaw, E; Haljasmägi (2020). Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science, 370(6515), eabd4585-+. DOI: 10.1126/science.abd4585https://doi.org/10.1126/science.abd4585
Inborn errors of type I IFN immunity in patients with life-threatening COVID-192020-10-23Zhang, Q; Bastard, P; Liu, ZY; Le Pen, J; Moncada-Velez, M; Chen, J; Ogishi, M; Sabli, IKD; Hodeib, S; Korol, C; Rosain, J; Bilguvar, K; Ye, JQ; Bolze (2020). Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science, 370(6515), eabd4570-. DOI: 10.1126/science.abd4570https://doi.org/10.1126/science.abd4570
Framework for quality assessment of whole genome cancer sequences2020-10-07Whalley, JP; Buchhalter, I; Rheinbay, E; Raine, KM; Stobbe, MD; Kleinheinz, K; Werner, J; Beltran, S; Gut, M; Hübschmann, D; Hutter, B; Livitz, D; Per (2020). Framework for quality assessment of whole genome cancer sequences. Nature Communications, 11(1), 5040-. DOI: 10.1038/s41467-020-18688-yhttps://doi.org/10.1038/s41467-020-18688-y
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples2020-09-21Bailey, MH; Meyerson, WU; Dursi, LJ; Wang, LB; Dong, GL; Liang, WW; Weerasinghe, A; Li, ST; Li, YZ; Kelso, S; Saksena, G; Ellrott, K; Wendl, MC; Wheel (2020). Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nature Communications, 11(1), 4748-. DOI: 10.1038/s41467-020-18151-yhttps://doi.org/10.1038/s41467-020-18151-y
Resolution of R-loops by INO80 promotes DNA replication and maintains cancer cell proliferation and viability2020-09-10Prendergast, L; McClurg, UL; Hristova, R; Berlinguer-Palmini, R; Greener, S; Veitch, K; Hernandez, I; Pasero, P; Rico, D; Higgins, JMG; Gospodinov, A; (2020). Resolution of R-loops by INO80 promotes DNA replication and maintains cancer cell proliferation and viability. Nature Communications, 11(1), 4534-. DOI: 10.1038/s41467-020-18306-xhttps://doi.org/10.1038/s41467-020-18306-x
The Genome Sequence of the Octocoral Paramuricea clavata - A Key Resource To Study the Impact of Climate Change in the Mediterranean2020-09-01Ledoux, JB; Cruz, F; Gómez-Garrido, J; Antoni, R; Blanc, J; Gómez-Gras, D; Kipson, S; López-Sendino, P; Antunes, A; Linares, C; Gut, M; Alioto, T; Gar (2020). The Genome Sequence of the Octocoral Paramuricea clavata - A Key Resource To Study the Impact of Climate Change in the Mediterranean. G3-Genes Genomes Genetics, 10(9), 2941-2952. DOI: 10.1534/g3.120.401371https://doi.org/10.1534/g3.120.401371
Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS2020-09-01Garcia-Reyero, J; Magunacelaya, NM; de Villambrosia, SG; Mediavilla, AG; Lam, MU; Insunza, A; Tonda, R; Beltran, S; Gut, M; Gonzalez, A; Montes-Moreno (2020). Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS. Journal Of Clinical Pathology, 73(9), 571-577. DOI: 10.1136/jclinpath-2019-206282https://doi.org/10.1136/jclinpath-2019-206282
Chromatin activation as a unifying principle underlying pathogenic mechanisms in multiple myeloma2020-09-01Ordoñez, R; Kulis, M; Russiñol, N; Chapaprieta, V; Carrasco-Leon, A; García-Torre, B; Charalampopoulou, S; Clot, G; Beekman, R; Meydan, C; Duran-Ferre (2020). Chromatin activation as a unifying principle underlying pathogenic mechanisms in multiple myeloma. Genome Research, 30(9), 1217-1227. DOI: 10.1101/gr.265520.120https://doi.org/10.1101/gr.265520.120
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity2020-09-01Matalonga, L; Laurie, S; Papakonstantinou, A; Piscia, D; Mereu, E; Bullich, G; Thompson, R; Horvath, R; Pérez-Jurado, L; Riess, O; Gut, I; van Ommen, (2020). Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. Journal Of Molecular Diagnostics, 22(9), 1205-1215. DOI: 10.1016/j.jmoldx.2020.06.008https://doi.org/10.1016/j.jmoldx.2020.06.008
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