TitleDateReferenceDOI
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
Uncovering de novo gene birth in yeast using deep transcriptomics2021-12-01Blevins, WR; Ruiz-Orera, J; Messeguer, X; Blasco-Moreno, B; Villanueva-Cañas, JL; Espinar, L; Díez, J; Carey, LB; Albà, MM (2021). Uncovering de novo gene birth in yeast using deep transcriptomics. Nature Communications, 12(1), 604-. DOI: 10.1038/s41467-021-20911-3https://doi.org/10.1038/s41467-021-20911-3
Dietary palmitic acid promotes a prometastatic memory via Schwann cells2021-11-18Pascual, G; Dominguez, D; Elosua-Bayes, M; Beckedorff, F; Laudanna, C; Bigas, C; Douillet, D; Greco, C; Symeonidi, A; Hernandez, I; Gil, SR; Prats, N; (2021). Dietary palmitic acid promotes a prometastatic memory via Schwann cells. Nature, 599(7885), 485-+. DOI: 10.1038/s41586-021-04075-0https://doi.org/10.1038/s41586-021-04075-0
GA4GH: International policies and standards for data sharing across genomic research and healthcare2021-11-10Rehm, HL; Page, AJH; Smith, L; Adams, JB; Alterovitz, G; Babb, LJ; Barkley, MP; Baudis, M; Beauvais, MJS; Beck, T; Beckmann, JS; Beltran, S; Bernick, (2021). GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genom, 1(2), 100029-. DOI: 10.1016/j.xgen.2021.100029https://doi.org/10.1016/j.xgen.2021.100029
STAG2 loss-of-function affects short-range genomic contacts and modulates the basal-luminal transcriptional program of bladder cancer cells2021-11-08Richart, L; Lapi, E; Pancaldi, V; Cuenca-Ardura, M; Carrillo-de-Santa Pau, E; Madrid-Mencia, M; Neyret-Kahn, H; Radvanyi, F; Rodriguez, JA; Cuartero, (2021). STAG2 loss-of-function affects short-range genomic contacts and modulates the basal-luminal transcriptional program of bladder cancer cells. Nucleic Acids Research, 49(19), 11005-11021. DOI: 10.1093/nar/gkab864https://doi.org/10.1093/nar/gkab864
Three-dimensional genome organization via triplex-forming RNAs2021-11-01Farabella, I; Di Stefano, M; Soler-Vila, P; Marti-Marimon, M; Marti-Renom, MA (2021). Three-dimensional genome organization via triplex-forming RNAs. Nature Structural & Molecular Biology, 28(11), 945-+. DOI: 10.1038/s41594-021-00678-3https://doi.org/10.1038/s41594-021-00678-3
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes2021-11-01Villanueva-Mendoza, C; Tuson, M; Apam-Garduño, D; de Castro-Miró, M; Tonda, R; Trotta, JR; Marfany, G; Valero, R; Cortés-González, V; Gonzàlez-Duarte, (2021). The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes. Genes, 12(11), 1824-. DOI: 10.3390/genes12111824https://doi.org/10.3390/genes12111824
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum2021-10-15Aguilera, C; Gabau, E; Ramirez-Mallafré, A; Brun-Gasca, C; Dominguez-Carral, J; Delgadillo, V; Laurie, S; Derdak, S; Padilla, N; de la Cruz, X; Capdev (2021). New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. Plos One, 16(10), e0258766-. DOI: 10.1371/journal.pone.0258766https://doi.org/10.1371/journal.pone.0258766
The loss of DHX15 impairs endothelial energy metabolism, lymphatic drainage and tumor metastasis in mice2021-10-15Ribera, J; Portoles, I; Cordoba-Jover, B; Rodriguez-Vita, J; Casals, G; Gonzalez-De la Presa, B; Graupera, M; Solsona-Vilarrasa, E; Garcia-Ruiz, C; Fe (2021). The loss of DHX15 impairs endothelial energy metabolism, lymphatic drainage and tumor metastasis in mice. Commun Biol, 4(1), 1192-. DOI: 10.1038/s42003-021-02722-whttps://doi.org/10.1038/s42003-021-02722-w
The genetic impact of an Ebola outbreak on a wild gorilla population2021-10-11Fontsere, C; Frandsen, P; Hernandez-Rodriguez, J; Niemann, J; Scharff-Olsen, CH; Vallet, D; Le Gouar, P; Menard, N; Navarro, A; Siegismund, HR; Hvilso (2021). The genetic impact of an Ebola outbreak on a wild gorilla population. Bmc Genomics, 22(1), 735-. DOI: 10.1186/s12864-021-08025-yhttps://doi.org/10.1186/s12864-021-08025-y