TitleDateAuthorsDOI
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany2019-06-24König, K; Pechmann, A; Thiele, S; Walter, MC; Schorling, D; Tassoni, A; Lochmüller, H; Müller-Reible, C; Kirschner, J (2019). De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany. Orphanet Journal Of Rare Diseases, 14(1), 152-. DOI: 10.1186/s13023-019-1125-2https://doi.org/10.1186/s13023-019-1125-2
Specific Contributions of Cohesin-SA1 and Cohesin-SA2 to TADs and Polycomb Domains in Embryonic Stem Cells2019-06-18Cuadrado, A; Giménez-Llorente, D; Kojic, A; Rodríguez-Corsino, M; Cuartero, Y; Martín-Serrano, G; Gómez-López, G; Marti-Renom, MA; Losada, A (2019). Specific Contributions of Cohesin-SA1 and Cohesin-SA2 to TADs and Polycomb Domains in Embryonic Stem Cells. Cell Reports, 27(12), 3500-+. DOI: 10.1016/j.celrep.2019.05.078https://doi.org/10.1016/j.celrep.2019.05.078
PD-1 signaling affects cristae morphology and leads to mitochondrial dysfunction in human CD8+ T lymphocytes2019-06-13Ogando, J; Sáez, ME; Santos, J; Nuevo-Tapioles, C; Gut, M; Esteve-Codina, A; Heath, S; González-Pérez, A; Cuezva, JM; Lacalle, RA; Mañes, S (2019). PD-1 signaling affects cristae morphology and leads to mitochondrial dysfunction in human CD8+ T lymphocytes. Journal For Immunotherapy Of Cancer, 7(1), 151-. DOI: 10.1186/s40425-019-0628-7https://doi.org/10.1186/s40425-019-0628-7
Single-cell transcriptomics unveils gene regulatory network plasticity2019-06-04Iacono, G; Massoni-Badosa, R; Heyn, H (2019). Single-cell transcriptomics unveils gene regulatory network plasticity. Genome Biology, 20(1), 110-. DOI: 10.1186/s13059-019-1713-4https://doi.org/10.1186/s13059-019-1713-4
Systems analysis reveals complex biological processes during virus infection fate decisions2019-06-01Argilaguet, J; Pedragosa, M; Esteve-Codina, A; Riera, G; Vidal, E; Peligero-Cruz, C; Casella, V; Andreu, D; Kaisho, T; Bocharov, G; Ludewig, B; Heath, (2019). Systems analysis reveals complex biological processes during virus infection fate decisions. Genome Research, 29(6), 907-919. DOI: 10.1101/gr.241372.118https://doi.org/10.1101/gr.241372.118
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations2019-06-01Cruz, PMR; Cossins, J; Estephan, ED; Munell, F; Selby, K; Hirano, M; Maroofin, R; Mehrjardi, MYV; Chow, G; Carr, A; Manzur, A; Robb, S; Munot, P; Liu, (2019). The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain, 142(6), 1547-1560. DOI: 10.1093/brain/awz107https://doi.org/10.1093/brain/awz107
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings2019-06-01Carrera-García, L; Natera-de Benito, D; Dieterich, K; de la Banda, MGG; Felter, A; Inarejos, E; Codina, A; Jou, C; Roldan, M; Palau, F; Hoenicka, J; P (2019). CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. American Journal Of Medical Genetics Part a, 179(6), 915-926. DOI: 10.1002/ajmg.a.61122https://doi.org/10.1002/ajmg.a.61122
Unraveling the cellular origin and clinical prognostic markers of infant B-cell acute lymphoblastic leukemia using genome-wide analysis2019-05-31Agraz-Doblas, A; Bueno, C; Bashford-Rogers, R; Roy, A; Schneider, P; Bardini, M; Ballerini, P; Cazzaniga, G; Moreno, T; Revilla, C; Gut, M; Valsecchi, (2019). Unraveling the cellular origin and clinical prognostic markers of infant B-cell acute lymphoblastic leukemia using genome-wide analysis. Haematologica, 104(6), 1176-1188. DOI: 10.3324/haematol.2018.206375https://doi.org/10.3324/haematol.2018.206375
Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series2019-05-30Fages, A; Hanghoj, K; Khan, N; Gaunitz, C; Seguin-Orlando, A; Leonardi, M; Constantz, CM; Gamba, C; Al-Rasheid, KAS; Albizuri, S; Alfarhan, AH; Allent (2019). Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series. Cell, 177(6), 1419-+. DOI: 10.1016/j.cell.2019.03.049https://doi.org/10.1016/j.cell.2019.03.049
Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series.2019-05-30Fages A; Hanghøj K; Khan N; Gaunitz C; Seguin-Orlando A; Leonardi M; McCrory Constantz C; Gamba C; Al-Rasheid KAS; Albizuri S; Alfarhan AH; Allentoft (2019). Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series.. Cell, 177(6), 1419-1435.e31. DOI: https://doi.org/10.1016/j.cell.2019.03.049https://doi.org/https://doi.org/10.1016/j.cell.2019.03.049
Linking Cell Dynamics With Gene Coexpression Networks to Characterize Key Events in Chronic Virus Infections2019-05-03Pedragosa, M; Riera, G; Casella, V; Esteve-Codina, A; Steuerman, Y; Seth, C; Bocharov, G; Heath, S; Gat-Viks, I; Argilaguet, J; Meyerhans, A (2019). Linking Cell Dynamics With Gene Coexpression Networks to Characterize Key Events in Chronic Virus Infections. Frontiers In Immunology, 10(MAY), 1002-. DOI: 10.3389/fimmu.2019.01002https://doi.org/10.3389/fimmu.2019.01002
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI2019-05-01Saredi, S; Gibertini, S; Matalonga, L; Farina, L; Ardissone, A; Moroni, I; Mora, M (2019). Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI. Neuromuscular Disorders, 29(5), 376-380. DOI: 10.1016/j.nmd.2019.04.001https://doi.org/10.1016/j.nmd.2019.04.001
A roadmap for high-throughput sequencing studies of wild animal populations using noninvasive samples and hybridization capture2019-05-01White, LC; Fontsere, C; Lizano, E; Hughes, DA; Angedakin, S; Arandjelovic, M; Granjon, AC; Hans, JB; Lester, JD; Rabanus-Wallace, MT; Rowney, C; Städe (2019). A roadmap for high-throughput sequencing studies of wild animal populations using noninvasive samples and hybridization capture. Molecular Ecology Resources, 19(3), 609-622. DOI: 10.1111/1755-0998.12993https://doi.org/10.1111/1755-0998.12993
Congenital myasthenic syndrome caused by novel COL13A1 mutations2019-05-01Dusl, M; Moreno, T; Muneii, F; Macaya, A; Gratacós, M; Abicht, A; Strom, TM; Lochmüller, H; Senderek, J (2019). Congenital myasthenic syndrome caused by novel COL13A1 mutations. Journal Of Neurology, 266(5), 1107-1112. DOI: 10.1007/s00415-019-09239-7https://doi.org/10.1007/s00415-019-09239-7
MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses2019-05-01Oury, J; Liu, Y; Töpf, A; Todorovic, S; Hoedt, E; Preethish-Kumar, V; Neubert, TA; Lin, WC; Lochmüller, H; Burden, SJ (2019). MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. Journal Of Cell Biology, 218(5), 1686-1705. DOI: 10.1083/jcb.201810023https://doi.org/10.1083/jcb.201810023
237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 20182019-05-01Pogoryelova, O; Urtizberea, JA; Argov, Z; Nishino, I; Lochmüller, H; Urtizberea, JA; Roos, A; Willems, A; Béhin, A; Udd, B; Landfeldt, E; Mansbach, H; (2019). 237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018. Neuromuscular Disorders, 29(5), 401-410. DOI: 10.1016/j.nmd.2019.02.010https://doi.org/10.1016/j.nmd.2019.02.010
Binless normalization of Hi-C data provides significant interaction and difference detection independent of resolution2019-04-26Spill, YG; Castillo, D; Vidal, E; Marti-Renom, MA (2019). Binless normalization of Hi-C data provides significant interaction and difference detection independent of resolution. Nature Communications, 10(1), 1938-. DOI: 10.1038/s41467-019-09907-2https://doi.org/10.1038/s41467-019-09907-2
Whole-genome sequence analysis of a Pan African set of samples reveals archaic gene flow from an extinct basal population of modern humans into sub-Saharan populations2019-04-26Lorente-Galdos, B; Lao, O; Serra-Vidal, G; Santpere, G; Kuderna, LFK; Arauna, LR; Fadhlaoui-Zid, K; Pimenoff, VN; Soodyall, H; Zalloua, P; Marques-Bon (2019). Whole-genome sequence analysis of a Pan African set of samples reveals archaic gene flow from an extinct basal population of modern humans into sub-Saharan populations. Genome Biology, 20(1), 77-. DOI: 10.1186/s13059-019-1684-5https://doi.org/10.1186/s13059-019-1684-5
Epigenetic loss of the endoplasmic reticulum-associated degradation inhibitor SVIP induces cancer cell metabolic reprogramming2019-04-18Llinàs-Arias, P; Rosselló-Tortella, M; López-Serra, P; Pérez-Salvia, M; Setién, F; Marin, S; Muñoz, JP; Junza, A; Capellades, J; Calleja-Cervantes, ME (2019). Epigenetic loss of the endoplasmic reticulum-associated degradation inhibitor SVIP induces cancer cell metabolic reprogramming. Jci Insight, 4(8), e125888-. DOI: 10.1172/jci.insight.125888https://doi.org/10.1172/jci.insight.125888
Labelled regulatory elements are pervasive features of the macrophage genome and are dynamically utilized by classical and alternative polarization signals2019-04-08Horvath, A; Daniel, B; Szeles, L; Cuaranta-Monroy, I; Czimmerer, Z; Ozgyin, L; Steiner, L; Kiss, M; Simandi, Z; Poliska, S; Giannakis, N; Raineri, E; (2019). Labelled regulatory elements are pervasive features of the macrophage genome and are dynamically utilized by classical and alternative polarization signals. Nucleic Acids Research, 47(6), 2778-2792. DOI: 10.1093/nar/gkz118https://doi.org/10.1093/nar/gkz118