TitleDateAuthorsDOI
Identity Noise and Adipogenic Traits Characterize Dermal Fibroblast Aging2018-11-29Salzer, MC; Lafzi, A; Berenguer-Llergo, A; Youssif, C; Castellanos, A; Solanas, G; Peixoto, FO; Attolini, CSO; Prats, N; Aguilera, M; Martín-Caballero (2018). Identity Noise and Adipogenic Traits Characterize Dermal Fibroblast Aging. Cell, 175(6), 1575-+. DOI: 10.1016/j.cell.2018.10.012https://doi.org/10.1016/j.cell.2018.10.012
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era2018-11-26Thompson, R; Abicht, A; Beeson, D; Engel, AG; Eymard, B; Maxime, E; Lochmüller, H (2018). A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era. Orphanet Journal Of Rare Diseases, 13(1), 211-. DOI: 10.1186/s13023-018-0955-7https://doi.org/10.1186/s13023-018-0955-7
The prevalence and transcriptional activity of the mucosal microbiota of ulcerative colitis patients2018-11-22Moen, AEF; Lindstrom, JC; Tannæs, TM; Vatn, S; Ricanek, P; Vatn, MH; Jahnsen, J (2018). The prevalence and transcriptional activity of the mucosal microbiota of ulcerative colitis patients. Scientific Reports, 8(1), 17278-. DOI: 10.1038/s41598-018-35243-4https://doi.org/10.1038/s41598-018-35243-4
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)2018-11-20Genis, D; Ortega-Cubero, S; San Nicolas, H; Corral, J; Gardenyes, J; de Jorge, L; López, E; Campos, B; Lorenzo, E; Tonda, R; Beltran, S; Negre, M; Obó (2018). Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). Neurology, 91(21), E1988-E1998. DOI: 10.1212/WNL.0000000000006550https://doi.org/10.1212/WNL.0000000000006550
Genomes reveal marked differences in the adaptive evolution between orangutan species2018-11-15Mattle-Greminger, MP; Sonay, TB; Nater, A; Pybus, M; Desai, T; de Valles, G; Casals, F; Scally, A; Bertranpetit, J; Marques-Bonet, T; van Schaik, CP; (2018). Genomes reveal marked differences in the adaptive evolution between orangutan species. Genome Biology, 19(1), 193-. DOI: 10.1186/s13059-018-1562-6https://doi.org/10.1186/s13059-018-1562-6
Interspecific Gene Flow Shaped the Evolution of the Genus Canis2018-11-05Gopalakrishnan, S; Sinding, MHS; Ramos-Madrigal, J; Niemann, J; Castruita, JAS; Vieira, FG; Caroe, C; Montero, MD; Kuderna, L; Serres, A; Gonzalez-Bas (2018). Interspecific Gene Flow Shaped the Evolution of the Genus Canis. Current Biology, 28(21), 3441-+. DOI: 10.1016/j.cub.2018.08.041https://doi.org/10.1016/j.cub.2018.08.041
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil2018-11-01Estephan, EDP; Zambon, AA; Marchiori, PE; da Silva, AMS; Caldas, VM; Moreno, CAM; Reed, UC; Horvath, R; Töpf, A; Lochmüller, H; Zanoteli, E (2018). Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. Neuromuscular Disorders, 28(11), 961-964. DOI: 10.1016/j.nmd.2018.08.007https://doi.org/10.1016/j.nmd.2018.08.007
Transcription Factors Drive Tet2-Mediated Enhancer Demethylation to Reprogram Cell Fate2018-11-01Sardina, JL; Collombet, S; Tian, TV; Gómez, A; Di Stefano, B; Berenguer, C; Brumbaugh, J; Stadhouders, R; Segura-Morales, C; Gut, M; Gut, IG; Heath, S (2018). Transcription Factors Drive Tet2-Mediated Enhancer Demethylation to Reprogram Cell Fate. Cell Stem Cell, 23(5), 727-+. DOI: 10.1016/j.stem.2018.08.016https://doi.org/10.1016/j.stem.2018.08.016
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description2018-11-01Alrohaif, H; Pogoryelova, O; Al-Ajmi, A; Aljeryan, LA; Alrashidi, NH; Alefasi, SA; Urtizberea, A; Lochmüller, H; Bastaki, L (2018). GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. Muscle & Nerve, 58(5), 700-707. DOI: 10.1002/mus.26337https://doi.org/10.1002/mus.26337
Novel mutation in the choroideremia gene and multi-mendelian phenotypes in Spanish families2018-10-01de Castro-Miró, M; Tonda, R; Marfany, G; Casaroli-Marano, RP; Gonzàlez-Duarte, R (2018). Novel mutation in the choroideremia gene and multi-mendelian phenotypes in Spanish families. British Journal Of Ophthalmology, 102(10), 1378-1386. DOI: 10.1136/bjophthalmol-2017-311427https://doi.org/10.1136/bjophthalmol-2017-311427
Challenges and guidelines toward 4D nucleome data and model standards2018-10-01Marti-Renom, MA; Almouzni, G; Bickmore, WA; Bystricky, K; Cavalli, G; Fraser, P; Gasser, SM; Giorgetti, L; Heard, E; Nicodemi, M; Nollmann, M; Orozco, (2018). Challenges and guidelines toward 4D nucleome data and model standards. Nature Genetics, 50(10), 1352-1358. DOI: 10.1038/s41588-018-0236-3https://doi.org/10.1038/s41588-018-0236-3
Promoter bivalency favors an open chromatin architecture in embryonic stem cells2018-10-01Mas, G; Blanco, E; Ballaré, C; Sansó, M; Spill, YG; Hu, DQ; Aoi, Y; Le Dily, F; Shilatifard, A; Marti-Renom, MA; Di Croce, L (2018). Promoter bivalency favors an open chromatin architecture in embryonic stem cells. Nature Genetics, 50(10), 1452-+. DOI: 10.1038/s41588-018-0218-5https://doi.org/10.1038/s41588-018-0218-5
Epigenetic prediction of response to anti-PD-1 treatment in non-small-cell lung cancer: a multicentre, retrospective analysis.2018-10-01Duruisseaux, M; Martínez-Cardús, A; Calleja-Cervantes, ME; Moran, S; de Moura, MC; Davalos, V; Piñeyro, D; Sanchez-Cespedes, M; Girard, N; Brevet, M; (2018). Epigenetic prediction of response to anti-PD-1 treatment in non-small-cell lung cancer: a multicentre, retrospective analysis.. Lancet Respiratory Medicine, 6(10), 771-781. DOI: 10.1016/s2213-2600(18)30284-4https://doi.org/10.1016/S2213-2600(18)30284-4
MET-Oncogenic and JAK2-Inactivating Alterations Are Independent Factors That Affect Regulation of PD-L1 Expression in Lung Cancer.2018-09-15Saigi, M; Alburquerque-Bejar, JJ; Mc Leer-Florin, A; Pereira, C; Pros, E; Romero, OA; Baixeras, N; Esteve-Codina, A; Nadal, E; Brambilla, E; Sanchez-C (2018). MET-Oncogenic and JAK2-Inactivating Alterations Are Independent Factors That Affect Regulation of PD-L1 Expression in Lung Cancer.. Clinical Cancer Research, 24(18), 4579-4587. DOI: 10.1158/1078-0432.CCR-18-0267https://doi.org/10.1158/1078-0432.CCR-18-0267
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease2018-09-05Wood, L; Bassez, G; Bleyenheuft, C; Campbell, C; Cossette, L; Jimenez-Moreno, AC; Dai, Y; Dawkins, H; Manera, JAD; Dogan, C; el Sherif, R; Fossati, B; (2018). Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet Journal Of Rare Diseases, 13(1), 155-. DOI: 10.1186/s13023-018-0889-0https://doi.org/10.1186/s13023-018-0889-0
Dynamics of Transcription Regulation in Human Bone Marrow Myeloid Differentiation to Mature Blood Neutrophils2018-09-04Grassi, L; Pourfarzad, F; Ullrich, S; Merkel, A; Were, F; Carrillo-de-Santa-Pau, E; Yi, GQ; Hiemstra, IH; Tool, ATJ; Mul, E; Perner, J; Janssen-Megens (2018). Dynamics of Transcription Regulation in Human Bone Marrow Myeloid Differentiation to Mature Blood Neutrophils. Cell Reports, 24(10), 2784-2794. DOI: 10.1016/j.celrep.2018.08.018https://doi.org/10.1016/j.celrep.2018.08.018
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice2018-09-01Issop, Y; Hathazi, D; Khan, MM; Rudolf, R; Weis, J; Spendiff, S; Slater, CR; Roos, A; Lochmüller, H (2018). GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. Human Molecular Genetics, 27(18), 3218-3232. DOI: 10.1093/hmg/ddy225https://doi.org/10.1093/hmg/ddy225
The neutral frequency spectrum of linked sites2018-09-01Ferretti, L; Klassmann, A; Raineri, E; Ramos-Onsins, SE; Wiehe, T; Achaz, G (2018). The neutral frequency spectrum of linked sites. Theoretical Population Biology, 123(), 70-79. DOI: 10.1016/j.tpb.2018.06.001https://doi.org/10.1016/j.tpb.2018.06.001
On the path to extinction: Inbreeding and admixture in a declining grey wolf population2018-09-01Gómez-Sánchez, D; Olalde, I; Sastre, N; Enseñat, C; Carrasco, R; Marques-Bonet, T; Lalueza-Fox, C; Leonard, JA; Vilà, C; Ramírez, O (2018). On the path to extinction: Inbreeding and admixture in a declining grey wolf population. Molecular Ecology, 27(18), 3599-3612. DOI: 10.1111/mec.14824https://doi.org/10.1111/mec.14824
Biochemical and pathological changes result from mutated Caveolin-3 in muscle2018-08-28Coraspe, JAG; Weis, J; Anderson, ME; Münchberg, U; Lorenz, K; Buchkremer, S; Carr, S; Zahedi, RP; Brauers, E; Michels, H; Sunada, Y; Lochmüller, H; Ca (2018). Biochemical and pathological changes result from mutated Caveolin-3 in muscle. Skeletal Muscle, 8(1), 28-. DOI: 10.1186/s13395-018-0173-yhttps://doi.org/10.1186/s13395-018-0173-y