About
Research fellow at the University of Southampton in the Faculty of Medicine. Has experience with genomic characterisation of B-cell malignancies and the optimisation of bioinformatics pipelines for NGS data. Interested in improving molecular diagnostic of patients with rare disease using NGS approaches. Currently working on splicing in rare disease.
Publications
4 publications
Page 1 of 1
Jenny Lord,
Carolina Jaramillo Oquendo,
Andrew G.L. Douglas,
David J. Bunyan,
Yaqiong Wang,
Zhiqiang Hu,
Zishuo Zeng,
Daniel Danis,
Panagiotis Katsonis,
Amanda Williams,
Oliver Lichtarge,
Yuchen Chang,
Richard D. Bagnall,
Stephen M. Mount,
Brynja Matthiasardottir,
Chiaofeng Lin,
Thomas van Overeem Hansen,
Raphael Leman,
Alexandra Martins,
Claude Houdayer,
Sophie Krieger,
Constantina Bakolitsa,
Yisu Peng,
Akash Kamandula,
Predrag Radivojac,
, 2024
, Human Genetics
Type: article
Carolina J. Oquendo,
Eleonora Scorletti,
Jenny Lord,
Laure B. Bindels,
Giovanni Targher,
, 2023
, Metabolism
, 151
Type: article
Carolina Jaramillo Oquendo,
Helen Parker,
David Oscier,
, 2021
, Journal of Translational Genetics and Genomics
Type: review
Carolina Jaramillo Oquendo,
Helen Parker,
David G. Oscier,
, 2019
, Scientific Reports
, 9 (1) , 1--9
Type: article