Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA B Rebolledo-Jaramillo, MSW Su, N Stoler, JA McElhoe, B Dickins, ... Proceedings of the National Academy of Sciences 111 (43), 15474-15479, 2014 | 250 | 2014 |
Jupyter and Galaxy: Easing entry barriers into complex data analyses for biomedical researchers BA Grüning, E Rasche, B Rebolledo-Jaramillo, C Eberhard, T Houwaart, ... PLoS computational biology 13 (5), e1005425, 2017 | 70* | 2017 |
RNA–DNA differences in human mitochondria restore ancestral form of 16S ribosomal RNA D Bar-Yaacov, G Avital, L Levin, AL Richards, N Hachen, BR Jaramillo, ... Genome research 23 (11), 1789-1796, 2013 | 56 | 2013 |
Function of GATA factors in the adult mouse liver R Zheng, B Rebolledo-Jaramillo, Y Zong, L Wang, P Russo, W Hancock, ... PLoS One 8 (12), e83723, 2013 | 50 | 2013 |
Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy A Schwieger-Briel, I Fuentes, D Castiglia, A Barbato, M Greutmann, ... Journal of Investigative Dermatology 139 (1), 244-249, 2019 | 38 | 2019 |
Controlling for contamination in re-sequencing studies with a reproducible web-based phylogenetic approach B Dickins, B Rebolledo-Jaramillo, MSW Su, IM Paul, D Blankenberg, ... BioTechniques 56 (3), 134-141, 2014 | 24 | 2014 |
Teneurins: an integrative molecular, functional, and biomedical overview of their role in cancer B Rebolledo-Jaramillo, A Ziegler Frontiers in Neuroscience 12, 427766, 2018 | 16 | 2018 |
Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa I Fuentes, C Guttmann-Gruber, B Tockner, A Diem, A Klausegger, ... Scientific Reports 10 (1), 15064, 2020 | 15 | 2020 |
Prevalence of filaggrin loss‐of‐function variants in Chilean population with and without atopic dermatitis GV Cárdenas, C Iturriaga, CD Hernandez, M Tejos‐Bravo, ... International Journal of Dermatology 61 (3), 310-315, 2022 | 11 | 2022 |
Proteomic analysis of Niemann-Pick type C hepatocytes reveals potential therapeutic targets for liver damage E Balboa, T Marín, JE Oyarzún, PS Contreras, R Hardt, T van den Bosch, ... Cells 10 (8), 2159, 2021 | 9 | 2021 |
Streamlined computational pipeline for genetic background characterization of genetically engineered mice based on next generation sequencing data C Farkas, F Fuentes-Villalobos, B Rebolledo-Jaramillo, F Benavides, ... BMC genomics 20, 1-20, 2019 | 9 | 2019 |
Differential methylation of genomic regions associated with heteroblasty detected by M&M algorithm in the nonmodel species Eucalyptus globulus Labill. R Hasbún, C Iturra, S Bravo, B Rebolledo-Jaramillo, L Valledor International Journal of Genomics 2016, 2016 | 8 | 2016 |
Rare Diseases: Genomics and Public Health GM Repetto, B Rebolledo-Jaramillo Applied Genomics and Public Health, 37-51, 2020 | 7 | 2020 |
Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity A Durán, B Rebolledo-Jaramillo, V Olguin, M Rojas-Herrera, M Las Heras, ... Biochemistry and Biophysics Reports 28, 101105, 2021 | 6 | 2021 |
Longitudinal study of wound healing status and bacterial colonisation of Staphylococcus aureus and Corynebacterium diphtheriae in epidermolysis bullosa patients I Fuentes, MJ Yubero, P Morandé, C Varela, K Oróstica, F Acevedo, ... International Wound Journal 20 (3), 774-783, 2023 | 5 | 2023 |
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile MC Poli, B Rebolledo-Jaramillo, C Lagos, J Orellana, G Moreno, ... European Journal of Human Genetics, 1-11, 2024 | 3 | 2024 |
A mouse systems genetics approach reveals common and uncommon genetic modifiers of hepatic lysosomal enzyme activities and glycosphingolipids A Durán, DA Priestman, M Las Heras, B Rebolledo-Jaramillo, V Olguín, ... International Journal of Molecular Sciences 24 (5), 4915, 2023 | 2 | 2023 |
Cis-regulatory elements are harbored in Intron5 of the RUNX1gene B Rebolledo-Jaramillo, RA Alarcon, VI Fernandez, SE Gutierrez BMC genomics 15, 1-8, 2014 | 2 | 2014 |
Prodromal manifestations of Parkinson’s disease in adults with 22q11. 2 microdeletion syndrome C Juri, P Chaná-Cuevas, V Kramer, R Fritsch, C Ornstein, A Cuiza, ... medRxiv, 2022.05. 18.22275282, 2022 | | 2022 |
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11. 2 Deletion Syndrome B Rebolledo-Jaramillo, MG Obregon, V Huckstadt, A Gomez, GM Repetto Genes 12 (1), 92, 2021 | | 2021 |