PDI - Resultado de Búsqueda

Boris Eduardo Rebolledo Jaramillo

Assistant Professor

Universidad del Desarrollo

Santiago, Chile

Rare diseases. Emphasis on mitochondrial genomics. FONDECYT #3170280 (2017-2020) FONDECYT #11220642 (2022-2025)

Bioinformatics and Genomics, PENNSYLVANIA STATE UNIVERSITY. Estados Unidos, 2016
Biochemistry and Bioinformatics, UNIVERSIDAD DE CONCEPCION. Chile, 2012
Bioengineering, UNIVERSIDAD DE CONCEPCION. Chile, 2009

Assistant professor Full Time

UNIVERSIDAD DEL DESARROLLO

Medicine

Santiago, Chile

2019 - A la fecha
Postdoctoral researcher Full Time

UNIVERSIDAD DEL DESARROLLO

Medicine

Santiago, Chile

2016 - 2019

Research assistant Part Time

Universidad de Concepción

Chile

2008 - 2010
Graduate research assistant

Pennsylvania State University

Estados Unidos

2010 - 2016
Researcher Full Time

Universidad del Desarrollo

Santiago, Chile

2016 - A la fecha

Becas Chile Scholarship

COMISION NACIONAL DE INVESTIGACION CIENTIFICA Y TECNOLOGICA

Chile, 2009

Scholarship for doctoral studies abroad.
Fulbright Scholarship

COMISION FULBRIGHT-CHILE

Chile, 2009

Fulbright scholarship for doctoral studies in the USA.


Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile Lagos, Catalina; Moreno, Gabriela; Martin, Luz M.; Encina, Gonzalo; Zavala, M. Jesus; Hasbun, Trinidad; Fischer, Sara; Lira, Manuel; Cares, Carolina; Aracena, Mariana; et al. Article ISI EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids Calderon, Juan F. Article ISI INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)
Longitudinal study of wound healing status and bacterial colonisation of <i>Staphylococcus aureus</i> and <i>Corynebacterium diphtheriae</i> in epidermolysis bullosa patients ACEVEDO-CLAROS, FRANCISCO NICOLAS; Palisson, Francis Article ISI SCOPUS International Wound #Journal (2023)
Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis Cardenas, Geovanna V.; Venegas-Salas, Luis F.; Fraga, Juan P.; Repetto, Gabriela M. Article ISI INTERNATIONAL JOURNAL OF DERMATOLOGY (2022)
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome Article ISI SCOPUS Genes (2021)
Identification of genetic modifiers of murine hepatic beta-glucocerebrosidase activity Duran, Anyelo; Calderon, Juan F.; Priestman, David A. Article ISI BIOCHEMISTRY AND BIOPHYSICS REPORTS (2021)
Proteomic Analysis of Niemann-Pick Type C Hepatocytes Reveals Potential Therapeutic Targets for Liver Damage Balboa, Elisa; Marin, Tamara; Hardt, Robert; van den Bosch, Thea Article ISI CELLS (2021)
Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa Fuentes, Ignacia; Guttmann-Gruber, Christina; Tockner, Birgit; Diem, Anja; Cofre-Araneda, Glenda; Figuera, Olga; Hidalgo, Yessia; Palisson, Francis; Joao Yubero, Maria; Cho, Raymond J.; et al. Article ISI SCIENTIFIC REPORTS (2020)
RARE DISEASES: GENOMICS AND PUBLIC HEALTH Repetto, Gabriela M.; Patrinos, GP Article ISI APPLIED GENOMICS AND PUBLIC HEALTH (2020)
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy Schwieger-Briel, Agnes; Fuentes, Ignacia; Castiglia, Daniele; Barbato, Antonio; Greutmann, Matthias; Leppert, Juna; Duchatelet, Sabine; Hovnanian, Alain; Burattini, Sofia; Yubero, M. Joao; et al. Article ISI SCOPUS JOURNAL OF INVESTIGATIVE DERMATOLOGY (2019)
Streamlined computational pipeline for genetic background characterization of genetically engineered mice based on next generation sequencing data Article ISI SCOPUS BMC GENOMICS (2019)
Jupyter and Galaxy: Easing entry barriers into complex data analyses for biomedical researchers Grüning, Björn A.; Rasche, Eric; Rebolledo-Jaramillo, Boris; Eberhard, Carl; Houwaart, Torsten; Chilton, John; Coraor, Nate; Backofen, Rolf; Nekrutenko, Anton; Ouellette, Francis Article ISI SCOPUS PLOS COMPUTATIONAL BIOLOGY (2017)
Differential Methylation of Genomic Regions Associated with Heteroblasty Detected by M&M Algorithm in the Nonmodel Species Eucalyptus globulus Labill Rebolledo-Jaramillo, Boris; Valledor, Luis Article ISI SCOPUS INTERNATIONAL JOURNAL OF GENOMICS (2016)
Cis-regulatory elements are harbored in Intron5 of the RUNX1 gene Rebolledo-Jaramillo, B; Fernandez, VI Article ISI SCOPUS BMC GENOMICS (2014)
Controlling for contamination in re-sequencing studies with a reproducible web-based phylogenetic approach Article ISI BIOTECHNIQUES (2014)
Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA Su, Marcia Shu-Wei; Stoler, Nicholas; McElhoe, Jennifer A.; Dickins, Benjamin; Blankenberg, Daniel; Korneliussen, Thorfinn S.; Chiaromonte, Francesca; Holland, Mitchell M.; Paul, Ian M.; Makova, Kateryna D. Article ISI PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Function of GATA Factors in the Adult Mouse Liver Article ISI PLOS ONE (2013)
RNA-DNA differences in human mitochondria restore ancestral form of 16S ribosomal RNA Bar-Yaacov, Dan; Avital, Gal; Levin, Liron; Richards, Allison L.; Hachen, Naomi; Jaramillo, Boris Rebolledo; Mishmar, Dan Article ISI GENOME RESEARCH (2013)


Contribution of intergenerational mitonuclear mismatch to disease in Latin-American admixed patients Proyecto (2022)
Functional genomics in autoinflammatory diseases Proyecto (2022)
Prodromal manifestations of Parkinson's disease in a high risk population: 22q11.2 microdeletion syndrome Repetto, Maria Gabriela Proyecto (2018)
CONTRIBUTION OF MITOCHONDRIAL DNA HETEROPLASMY TO THE PHENOTYPE OF PATIENTS WITH MATERNALLY TRANSMITTED 22Q11.2 DELETION SYNDROME (VELOCARDIOFACIAL SYNDROME) FONDECYT (3170280) Proyecto 2017-2020 Inv. Responsable
ROLE OF HISTONE ACETYLATION IN FORMATION OF LEUKEMIA CAUSING (8;21) TRANSLOCATION FONDECYT (1100670) Proyecto 2010-2013 Personal técnico y/o de apoyo


Teneurins: An Integrative Molecular, Functional, and Biomedical Overview of Their Role in Cancer Review ISI (2018)

Rodrigo Hasbun

Profesor asociado

Silvicultura

Universidad de Concepción

Concepcion, Chile

Alejandra Alvarez

Full professor

Cell and Molecular Biology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE, FACULTAD DE CIENCIAS BIOLÓGICAS

Santiago, Chile

Maria Repetto

Profesora Titular

Center for Genetics and Genomics

FACULTAD DE MEDICINA CLINICA ALEMANA-UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

Ariel Castro

Full Professor

Department of Biochemistry and Molecular Biology

UNIVERSIDAD DE CONCEPCION

concepciòn, Chile

Arturo Borzutzky

Chief; Associate Professor

Department of Pediatric Infectious Diseases and Immunology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

Silvana Zanlungo

Full Professor

Gastroenterology

Pontificia Universidad Católica de Chile

Santiago, Chile

Juan Calderon

Investigador

Facultad de Medicina

Universidad del Desarrollo

Santiago, Chile

Maria Fuentes

Profesor Asistente / Research Director

Pontificia Universidad Católica / Fundación DEBRA Chile

Saltiago, Chile

ELISA BALBOA

Académico Investigador

Facultad de Medicina

Universidad Finis Terrae

SANTIAGO, Chile

Luis Venegas

Bioquímico/investigador

Anatomía Patológica

Clínica Alemana de Santiago

Santiago, Chile

Boris Rebolledo

Assistant Professor

Center for Genetics and Genomics

Universidad del Desarrollo

Santiago, Chile

Paola Casanello

Profesor Asociado

División de Obstetricia y Ginecología

Pontificia Universidad Católica de Chile

Santiago, Chile

Soraya Bravo

Independiente

Independiente

Concepción, Chile

Carolina Cabalín

Investigadora

Pediatría

Pontificia Universidad Católica de Chile

Santiago, Chile

Maria Poli

Associate Professor

Pediatrics

Universidad del Desarrollo

Lo Barnechea, Chile

Tamara Marín

PhD en Ciencias médicas

Gastroenterología

Pontificia Universidad Católica de Chile

Santiago, Chile

Victor Faundes

Assistant Profesor

Laboratorio de Genetica y Enfermedades Metabolicas

Universidad de Chile, INTA

Santiago, Chile

Yessia Hidalgo

Flow cytometry unit manager / Researcher

Centro de Investigación e Innovación Biomédica

Corporación IMPACT / Universidad de Los Andes

Santiago, Chile

Macarena Tejos

Trainee (PhD Student)

Pontificia Universidad Católica de Chile

Santiago, Chile

carolina iturriaga

Sub Directora Laboratorio de inmunología y Alergia Traslacional UC

Pediatria

Pontificia Universidad Católica de Chile

santiago, Chile

Francisco Fuentes

Profesor Asistente

Departamento de Microbiología

Universidad de Concepción

Concepción, Chile

Carlos Farkas

PostDoctoral Fellow

CancerCare Manitoba

University of Manitoba

Winnipeg, Canada

Macarena Las Heras

Investigadora postdoctoral

Facultad de Química y Biología

Universidad de Santiago de Chile

Santiago, Chile

Florencia Brito

Residente de Ginecología y Obstétricia

Ginecología y Obstetricia

Universidad de Valparaíso

Viña del Mar, Chile

Boris Eduardo Rebolledo Jaramillo

Líneas de Investigación

Educación

Bioinformatics and Genomics, PENNSYLVANIA STATE UNIVERSITY. Estados Unidos, 2016

Biochemistry and Bioinformatics, UNIVERSIDAD DE CONCEPCION. Chile, 2012

Bioengineering, UNIVERSIDAD DE CONCEPCION. Chile, 2009

Experiencia Académica

Assistant professor Full Time

Postdoctoral researcher Full Time

Experiencia Profesional

Research assistant Part Time

Graduate research assistant

Researcher Full Time

Premios y Distinciones

Becas Chile Scholarship

Fulbright Scholarship

Article (18)

Proyecto (5)

CONTRIBUTION OF MITOCHONDRIAL DNA HETEROPLASMY TO THE PHENOTYPE OF PATIENTS WITH MATERNALLY TRANSMITTED 22Q11.2 DELETION SYNDROME (VELOCARDIOFACIAL SYNDROME)

ROLE OF HISTONE ACETYLATION IN FORMATION OF LEUKEMIA CAUSING (8;21) TRANSLOCATION

Review (1)