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Boris Rebolledo-Jaramillo
Boris Rebolledo-Jaramillo
Verified email at udd.cl
Title
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Cited by
Year
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
2502014
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
562013
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
502013
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
382019
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
242014
Teneurins: an integrative molecular, functional, and biomedical overview of their role in cancer
B Rebolledo-Jaramillo, A Ziegler
Frontiers in Neuroscience 12, 427766, 2018
162018
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
132020
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
102022
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
92021
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
92019
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
82016
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
62021
Rare Diseases: Genomics and Public Health
GM Repetto, B Rebolledo-Jaramillo
Applied Genomics and Public Health, 37-51, 2020
62020
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
52023
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
22024
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
22023
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
22014
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
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Articles 1–20