Publications by authors named "Nicholas B Blackburn"

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Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype.
Nicholas B Blackburn, Bennet J McComish, Allan Motyer, James C Slimmer, Stephen J Leslie

Genome Med· December 2025

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Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases.
Ming Chen, Allan Motyer, Bruce V Taylor, Bennet J McComish, Kathryn P Burdon, Nicholas B Blackburn

Hum Mutat· April 2025

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International overview of sea turtle fibropapillomatosis: a survey of expert opinions and trends.
Jenny Whilde, Narges Mashkour, Samantha A Koda, Catherine B Eastman, Drew Thompson, Nicholas B Blackburn

Front Cell Dev Biol· August 2024

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Induced pluripotent stem cell derived pericytes respond to mediators of proliferation and contractility.
Natalie E King, Jo-Maree Courtney, Lachlan S Brown, Alastair J Fortune, Nicholas B Blackburn

Stem Cell Res Ther· March 2024

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Using MS induced pluripotent stem cells to investigate MS aetiology.
Alastair J Fortune, Jessica L Fletcher, Nicholas B Blackburn, Kaylene M Young

Mult Scler Relat Disord· July 2022

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Generation and characterisation of four multiple sclerosis iPSC lines from a single family.
Alastair J Fortune, Bruce V Taylor, Jac C Charlesworth, Kathryn P Burdon, Nicholas B Blackburn

Stem Cell Res· July 2022

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The Prevalence of Glaucoma in the Jirel Ethnic Group of Nepal.
Sarah Miller, Nicholas B Blackburn, Matthew Johnson, Sandra Laston, Janardan Subedi

Front Ophthalmol (Lausanne)· June 2022

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Massively parallel sequencing in hereditary prostate cancer families reveals a rare risk variant in the DNA repair gene, RAD51C.
James R Marthick, Kelsie Raspin, Georgea R Foley, Nicholas B Blackburn, Annette Banks

Eur J Cancer· December 2021

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Transcriptomic Profiling of Fibropapillomatosis in Green Sea Turtles () From South Texas.
Nicholas B Blackburn, Ana Cristina Leandro, Nina Nahvi, Mariana A Devlin, Marcelo Leandro

Front Immunol· September 2021

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Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease.
Ngan K Tran, Rodney A Lea, Samuel Holland, Quan Nguyen, Arti M Raghubar, Nicholas B Blackburn

Sci Rep· September 2021

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Mesenchymal plasticity of devil facial tumour cells during in vivo vaccine and immunotherapy trials.
Amanda L Patchett, Cesar Tovar, Nicholas B Blackburn, Gregory M Woods, A Bruce Lyons

Immunol Cell Biol· August 2021

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Identifying the Lipidomic Effects of a Rare Loss-of-Function Deletion in .
Nicholas B Blackburn, Peter J Meikle, Juan M Peralta, Satish Kumar, Ana C Leandro

Circ Genom Precis Med· June 2021

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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Ida E Sønderby, Dennis van der Meer, Clara Moreau, Tobias Kaufmann, G Bragi Walters, Nicholas B Blackburn

Transl Psychiatry· March 2021

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Molecular characterization of a marine turtle tumor epizootic, profiling external, internal and postsurgical regrowth tumors.
Kelsey Yetsko, Jessica A Farrell, Nicholas B Blackburn, Liam Whitmore, Maximilian R Stammnitz

Commun Biol· February 2021

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Genotype phasing in pedigrees using whole-genome sequence data.
August N Blackburn, Lucy Blondell, Mark Z Kos, Nicholas B Blackburn, Juan M Peralta

Eur J Hum Genet· June 2020

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Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.

JAMA Psychiatry· April 2020

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Glycated Serum Protein Genetics and Pleiotropy with Cardiometabolic Risk Factors.
Matthew P Johnson, Ryan Keyho, Nicholas B Blackburn, Sandra Laston, Satish Kumar

J Diabetes Res· December 2019

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Rare variant significantly alters de novo ceramide synthesis pathway.
Nicholas B Blackburn, Laura F Michael, Peter J Meikle, Juan M Peralta, Marian Mosior

J Lipid Res· September 2019

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Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan.
Robert L Hanson, Saied Safabakhsh, Jeffrey M Curtis, Wen-Chi Hsueh, Lois I Jones, Nicholas B Blackburn

Diabetologia· September 2019

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Rediscovering the value of families for psychiatric genetics research.
David C Glahn, Vishwajit L Nimgaonkar, Henriette Raventós, Javier Contreras, Andrew M McIntosh, Nicholas B Blackburn

Mol Psychiatry· April 2019

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Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
Sionne E M Lucas, Tiger Zhou, Nicholas B Blackburn, Richard A Mills, Jonathan Ellis

PLoS One· December 2018

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Heritability and genetic associations of triglyceride and HDL-C levels using pedigree-based and empirical kinships.
Nicholas B Blackburn, Arthur Porto, Juan M Peralta, John Blangero

BMC Proc· September 2018

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Reliability of genomic predictions of complex human phenotypes.
Arthur Porto, Juan M Peralta, Nicholas B Blackburn, John Blangero

BMC Proc· September 2018

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Genome-wide linkage scan for loci influencing plasma triglyceride levels.
Juan M Peralta, Nicholas B Blackburn, Arthur Porto, John Blangero, Jac Charlesworth

BMC Proc· September 2018

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Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours.
Liesel M FitzGerald, Kelsie Raspin, James R Marthick, Matt A Field, Roslyn C Malley, Nicholas B Blackburn

Sci Rep· December 2017

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