Ric De Paoli-Iseppi

The long and the short of it: unlocking nanopore long-read RNA sequencing data with short-read tools

Xueyi Dong, Luyi Tian, Quentin Gouil, Hasaru Kariyawasam, Shian Su, Ricardo De Paoli-Iseppi, Yair David Joseph Prawer, Michael Clark, Kelsey Breslin, Megan Iminitoff, Marnie Blewitt, Charity Law, Matthew Ritchie

Journal article  |  2020

Application of Oxford Nanopore Technologies’ long-read sequencing platform to transcriptomic analysis is increasing in popularity...

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

Guy Helman, Alison Compton, Daniella Hock, Marzena Walkiewicz, Gemma Brett, Lynn Pais, Tiong Tan, Ricardo De Paoli-Iseppi, Michael Clark, John Christodoulou, Susan White, David Thorburn, David Stroud, Zornitza Stark, Cas Simons

Journal article  |  2020

The diagnosis of mitochondrial disorders remains a challenging and often unmet need. We sought to investigate a sibling pair with ..

Pan-cancer analysis of whole genomes

Peter J Campbell, Gad Getz, Jan O Korbel, Joshua M Stuart, Jennifer L Jennings, Lincoln D Stein, Marc D Perry, Hardeep K Nahal-Bose, BF Francis Ouellette, Constance H Li, Esther Rheinbay, G Petur Nielsen, Dennis C Sgroi, Chin-Lee Wu, William C Faquin, Vikram Deshpande, Paul C Boutros, Alexander J Lazar, Katherine A Hoadley, David N Louis, et al.

Journal article  |  2020  |  Nature

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this v..

Age estimation in a long-lived seabird (Ardenna tenuirostris) using DNA methylation-based biomarkers

Ricardo De Paoli-Iseppi, Bruce E Deagle, Andrea M Polanowski, Clive R McMahon, Joanne L Dickinson, Mark A Hindell, Simon N Jarman

Journal article  |  2019  |  Molecular Ecology Resources

Multiple endocrine neoplasia type 1: clinical correlates of MEN1 gene methylation

Ricardo De Paoli-Iseppi, Louise Prentice, James R Marthick, Russell Thomson, Adele F Holloway, Joanne L Dickinson, John Burgess

Journal article  |  2018  |  Pathology

DNA methylation levels in candidate genes associated with chronological age in mammals are not conserved in a long-lived seabird

Ricardo De Paoli-Iseppi, Andrea M Polanowski, Clive McMahon, Bruce E Deagle, Joanne L Dickinson, Mark A Hindell, Simon N Jarman

Journal article  |  2017  |  PLOS ONE

Measuring Animal Age with DNA Methylation: From Humans to Wild Animals

Ricardo De Paoli-Iseppi, Bruce E Deagle, Clive R McMahon, Mark A Hindell, Joanne L Dickinson, Simon N Jarman

Journal article  |  2017  |  FRONTIERS IN GENETICS

Whole-genome landscapes of major melanoma subtypes

Nicholas K Hayward, James S Wilmott, Nicola Waddell, Peter A Johansson, Matthew A Field, Katia Nones, Ann-Marie Patch, Hojabr Kakavand, Ludmil B Alexandrov, Hazel Burke, Valerie Jakrot, Stephen Kazakoff, Oliver Holmes, Conrad Leonard, Radhakrishnan Sabarinathan, Loris Mularoni, Scott Wood, Qinying Xu, Nick Waddell, Varsha Tembe, et al.

Journal article  |  2017  |  Nature

Comparison of whole-exome sequencing of matched fresh and formalin fixed paraffin embedded melanoma tumours: implications for clinical decision making

Ricardo De Paoli-Iseppi, Peter A Johansson, Alexander M Menzies, Kerith-Rae Dias, Gulietta M Pupo, Hojabr Kakavand, James S Wilmott, Graham J Mann, Nicholas K Hayward, Marcel E Dinger, Georgina V Long, Richard A Scolyer

Journal article  |  2016  |  Pathology

UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas

Stephen Q Wong, Kelly Waldeck, Ismael A Vergara, Jan Schroeder, Jason Madore, James S Wilmott, Andrew J Colebatch, Ricardo De Paoli-Iseppi, Jason Li, Richard Lupat, Timothy Semple, Gisela Mir Arnau, Andrew Fellowes, J Helen Leonard, George Hruby, Graham J Mann, John F Thompson, Carleen Cullinane, Meredith Johnston, Mark Shackleton, et al.

Journal article  |  2015  |  Cancer Res

Tumour procurement, DNA extraction, coverage analysis and optimisation of mutation-detection algorithms for human melanoma genomes

James S Wilmott, Matthew A Field, Peter A Johansson, Hojabr Kakavand, Ping Shang, Ricardo De Paoli-Iseppi, Ricardo E Vilain, Gulietta M Pupo, Varsha Tembe, Valerie Jakrot, Catherine A Shang, Jonathan Cebon, Mark Shackleton, Anna Fitzgerald, John F Thompson, Nicholas K Hayward, Graham J Mann, Richard A Scolyer

Journal article  |  2015  |  Pathology

Molecular biomarkers for chronological age in animal ecology

Simon N Jarman, Andrea M Polanowski, Cassandra E Faux, Jooke Robbins, Ricardo De Paoli-Iseppi, Mark Bravington, Bruce E Deagle

Journal article  |  2015  |  Molecular Ecology

Combining BET and HDAC inhibitors synergistically induces apoptosis of melanoma and suppresses AKT and YAP signaling

Anja Heinemann, Carleen Cullinane, Ricardo De Paoli-Iseppi, James S Wilmott, Dilini Gunatilake, Jason Madore, Dario Strbenac, Jean Y Yang, Kavitha Gowrishankar, Jessamy C Tiffen, Rab K Prinjha, Nicholas Smithers, Grant A McArthur, Peter Hersey, Stuart J Gallagher

Journal article  |  2015  |  ONCOTARGET