TitleDateAuthorsDOI
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects2022-01-31Arlt, A; Kohlschmidt, N; Hentschel, A; Bartels, E; Gross, C; Topf, A; Edem, P; Szabo, N; Sickmann, A; Meyer, N; Schara-Schmidt, U; Lau, J; Lochmuller, (2022). Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. Orphanet Journal Of Rare Diseases, 17(1), 29-. DOI: 10.1186/s13023-021-02068-whttps://doi.org/10.1186/s13023-021-02068-w
InterTADs: integration of multi-omics data on topologically associated domains, application to chronic lymphocytic leukemia2022-01-14Tsagiopoulou, M; Pechlivanis, N; Maniou, MC; Psomopoulos, F (2022). InterTADs: integration of multi-omics data on topologically associated domains, application to chronic lymphocytic leukemia. Nar Genom Bioinform, 4(1), lqab121-. DOI: 10.1093/nargab/lqab121https://doi.org/10.1093/nargab/lqab121
Identification of chromatin loops from Hi-C interaction matrices by CTCF-CTCF topology classification2022-01-13Galan, S; Serra, F; Marti-Renom, MA (2022). Identification of chromatin loops from Hi-C interaction matrices by CTCF-CTCF topology classification. Nar Genom Bioinform, 4(1), lqac021-. DOI: 10.1093/nargab/lqac021https://doi.org/10.1093/nargab/lqac021
Analysis of the batch effect due to sequencing center in population statistics quantifying rare events in the 1000 genomes project2022-01-01Maceda, I; Lao, OS (2022). Analysis of the batch effect due to sequencing center in population statistics quantifying rare events in the 1000 genomes project. Genes, 13(1), 44-. DOI: 10.3390/genes13010044https://doi.org/10.3390/genes13010044
Spatial organization of chromosomes leads to heterogeneous chromatin motion and drives the liquid- or gel-like dynamical behavior of chromatin2022-01-01Salari, H; Di Stefano, M; Jost, D (2022). Spatial organization of chromosomes leads to heterogeneous chromatin motion and drives the liquid- or gel-like dynamical behavior of chromatin. Genome Research, 32(1), 28-43. DOI: 10.1101/gr.275827.121https://doi.org/10.1101/gr.275827.121
Emergence of 16S rRNA methyltransferases among carbapenemase-producing Enterobacterales in Spain studied by whole-genome sequencing2022-01-01Arca-Suárez, J; Rodiño-Janeiro, BK; Pérez, A; Guijarro-Sánchez, P; Vázquez-Ucha, JC; Cruz, F; Gómez-Garrido, J; Alioto, TS; Alvarez-Tejado, M; Gut, M; (2022). Emergence of 16S rRNA methyltransferases among carbapenemase-producing Enterobacterales in Spain studied by whole-genome sequencing. International Journal Of Antimicrobial Agents, 59(1), 106456-. DOI: 10.1016/j.ijantimicag.2021.106456https://doi.org/10.1016/j.ijantimicag.2021.106456
Structural basis of Nrd1-Nab3 heterodimerization2022-01-01Chaves-Arquero, B; Martínez-Lumbreras, S; Camero, S; Santiveri, CM; Mirassou, Y; Campos-Olivas, R; Jiménez, MA; Calvo, O; Pérez-Cañadillas, JM (2022). Structural basis of Nrd1-Nab3 heterodimerization. Life Sci Alliance, 5(4), e202101252-. DOI: 10.26508/lsa.202101252https://doi.org/10.26508/lsa.202101252
A high-quality, long-read genome assembly of the endangered ring-tailed lemur (Lemur catta)2022-01-01Palmada-Flores, M; Orkin, JD; Haase, B; Mountcastle, J; Bertelsen, MF; Fedrigo, O; Kuderna, LFK; Jarvis, ED; Marques-Bonet, T (2022). A high-quality, long-read genome assembly of the endangered ring-tailed lemur (Lemur catta). Gigascience, 11(), giac026-. DOI: 10.1093/gigascience/giac026https://doi.org/10.1093/gigascience/giac026
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents2022-01-01Gangfuss, A; Lochmüller, H; Töpf, A; O'Heir, E; Horvath, R; Kölbel, H; Schweiger, B; Schara-Schmidt, U; Roos, A (2022). A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. American Journal Of Medical Genetics Part a, 188(1), 283-291. DOI: 10.1002/ajmg.a.62494https://doi.org/10.1002/ajmg.a.62494
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2022-01-01de Boer, E; Yaldiz, B; Denommé-Pichon, AS; Matalonga, L; Laurie, S; Steyaert, W; de Reuver, R; Gilissen, C; Kwint, M; Pfundt, R; Verloes, A; Willemsen (2022). Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant. European Journal Of Medical Genetics, 65(1), 104402-. DOI: 10.1016/j.ejmg.2021.104402https://doi.org/10.1016/j.ejmg.2021.104402
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement2022-01-01Gangfuss, A; Czech, A; Hentschel, A; Munchberg, U; Horvath, R; Topf, A; O'Heir, E; Lochmuller, H; Stehling, F; Kiewert, C; Sickmann, A; Kuechler, A; K (2022). Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. Journal Of Pathology, 256(1), 93-107. DOI: 10.1002/path.5812https://doi.org/10.1002/path.5812
Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention2022-01-01Fernandez-Castillo, N; Cabana-Dominguez, J; Kappel, DB; Torrico, B; Weber, H; Lesch, KP; Lao, OS; Reif, A; Cormand, B (2022). Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention. Genes, 13(1), 93-. DOI: 10.3390/genes13010093https://doi.org/10.3390/genes13010093
A roadmap for the generation of benchmarking resources for antimicrobial resistance detection using next generation sequencing2022-01-01Petrillo M; Fabbri M; Kagkli DM; Querci M; Van den Eede G; Alm E; Aytan-Aktug D; Capella-Gutierrez S; Carrillo C; Cestaro A; Chan K-G; Coque T; Endrul (2022). A roadmap for the generation of benchmarking resources for antimicrobial resistance detection using next generation sequencing. F1000research, 10(), 80-. DOI: 10.12688/f1000research.39214.2https://doi.org/10.12688/f1000research.39214.2
Identification of Taxonomically Restricted Transcripts from Illumina RNA Sequencing Data2022-01-01Blevins WR (2022). Identification of Taxonomically Restricted Transcripts from Illumina RNA Sequencing Data. Methods In Molecular Biology, 2477(), 91-103. DOI: 10.1007/978-1-0716-2257-5_7https://doi.org/10.1007/978-1-0716-2257-5_7
Genetic data from the extinct giant rat from Tenerife (Canary Islands) points to a recent divergence from mainland relatives2021-12-22Renom, P; de-Dios, T; Civit, S; Llovera, L; Sanchez-Gracia, A; Lizano, E; Rando, JC; Marques-Bonet, T; Kergoat, GJ; Casanovas-Vilar, I; Lalueza-Fox, C (2021). Genetic data from the extinct giant rat from Tenerife (Canary Islands) points to a recent divergence from mainland relatives. Biology Letters, 17(12), 20210533-. DOI: 10.1098/rsbl.2021.0533https://doi.org/10.1098/rsbl.2021.0533
E3 ubiquitin ligase Atrogin-1 mediates adaptive resistance to KIT-targeted inhibition in gastrointestinal stromal tumor2021-12-02Garcia-Valverde, A; Rosell, J; Sayols, S; Gomez-Peregrina, D; Pilco-Janeta, DF; Olivares-Rivas, I; de Alava, E; Maurel, J; Rubio-Casadevall, J; Esteve (2021). E3 ubiquitin ligase Atrogin-1 mediates adaptive resistance to KIT-targeted inhibition in gastrointestinal stromal tumor. Oncogene, 40(48), 6614-6626. DOI: 10.1038/s41388-021-02049-0https://doi.org/10.1038/s41388-021-02049-0
WEScover: selection between clinical whole exome sequencing and gene panel testing2021-12-01Lee, IH; Lin, YF; Alvarez, WJ; Hernandez-Ferrer, C; Mandl, KD; Kong, SW (2021). WEScover: selection between clinical whole exome sequencing and gene panel testing. Bmc Bioinformatics, 22(1), 259-. DOI: 10.1186/s12859-021-04178-5https://doi.org/10.1186/s12859-021-04178-5
Transcriptome analysis in LRRK2 and idiopathic Parkinson's disease at different glucose levels2021-12-01Fernandez-Santiago, R; Esteve-Codina, A; Fernandez, M; Valldeoriola, F; Sanchez-Gomez, A; Munoz, E; Compta, Y; Tolosa, E; Ezquerra, M; Marti, MJ (2021). Transcriptome analysis in LRRK2 and idiopathic Parkinson's disease at different glucose levels. Npj Parkinsons Dis, 7(1), 109-. DOI: 10.1038/s41531-021-00255-xhttps://doi.org/10.1038/s41531-021-00255-x
Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage2021-12-01Musacchia, F; Karali, M; Torella, A; Laurie, S; Policastro, V; Pizzo, M; Beltran, S; Casari, G; Nigro, V; Banfi, S (2021). Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage. Genes, 12(12), 1979-. DOI: 10.3390/genes12121979https://doi.org/10.3390/genes12121979
Genomic analysis of 18th-century kazakh individuals and their oral microbiome2021-12-01White, AE; de-Dios, T; Carrion, P; Bonora, GL; Llovera, L; Cilli, E; Lizano, E; Khabdulina, MK; Tleugabulov, DT; Olalde, I; Marques-Bonet, T; Balloux, (2021). Genomic analysis of 18th-century kazakh individuals and their oral microbiome. Biology, 10(12), 1324-. DOI: 10.3390/biology10121324https://doi.org/10.3390/biology10121324