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Nicholas B. Blackburn · SciRah

Researcher profile · Semantic Scholar

Nicholas B. Blackburn

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Nicholas B. Blackburn — researcher profile on SciRah

h-index: 15
Works: 43
Citations: 713

Most-cited papers

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.
D. van der Meer, I. Sønderby, T. Kaufmann, G. Walters +128 more
2020JAMA psychiatry82 citations Open access
Semantic Scholar
Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs
I. Sønderby, C. Ching, S. Thomopoulos, Dennis Meer +152 more
2021Human Brain Mapping61 citations Open access
Semantic Scholar
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
I. Sønderby, Ó. Gústafsson, N. T. Doan, D. Hibar +149 more
2018Molecular Psychiatry58 citations Open access
Semantic Scholar
RNA-seq profiling of a radiation resistant and radiation sensitive prostate cancer cell line highlights opposing regulation of DNA repair and targets for radiosensitization
A. Young, Rachael Berry, A. Holloway, Nicholas B. Blackburn +4 more
2014BMC Cancer56 citations Open access
Semantic Scholar
Rediscovering the value of families for psychiatric genetics research
D. Glahn, V. Nimgaonkar, H. Raventós, J. Contreras +17 more
2018Molecular Psychiatry53 citations Open access
Semantic Scholar
Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours
L. FitzGerald, K. Raspin, J. Marthick, M. Field +7 more
2017Scientific Reports49 citations Open access
Semantic Scholar
Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan
R. Hanson, Saied Safabakhsh, J. Curtis, W. Hsueh +10 more
2019Diabetologia39 citations Open access
Semantic Scholar
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
I. Sønderby, D. van der Meer, C. Moreau, T. Kaufmann +140 more
2021Translational Psychiatry36 citations Open access
Semantic Scholar
Abdominal Obesity and Brain Atrophy in Type 2 Diabetes Mellitus
R. Climie, Chris Moran, M. Callisaya, L. Blizzard +7 more
2015PLoS ONE31 citations Open access
Semantic Scholar
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent
S. Lucas, Tiger Zhou, Nicholas B. Blackburn, R. Mills +8 more
2018PLoS ONE28 citations Open access
Semantic Scholar
Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway[S]
Nicholas B. Blackburn, Laura F. Michael, P. Meikle, J. Peralta +19 more
2019Journal of Lipid Research23 citations Open access
Semantic Scholar
Transcriptomic Profiling of Fibropapillomatosis in Green Sea Turtles (Chelonia mydas) From South Texas
Nicholas B. Blackburn, A. Leandro, Nina Nahvi, Mariana A. Devlin +9 more
2020bioRxiv22 citations Open access
Semantic Scholar
Comparative Analysis of Immune Checkpoint Molecules and Their Potential Role in the Transmissible Tasmanian Devil Facial Tumor Disease
Andrew S. Flies, Nicholas B. Blackburn, A. Lyons, J. Hayball +1 more
2017Frontiers in Immunology19 citations Open access
Semantic Scholar
Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.
S. Lucas, Tiger Zhou, Nicholas B. Blackburn, R. Mills +9 more
2017Investigative Ophthalmology and Visual Science18 citations Open access
Semantic Scholar
Common genetic variation within miR-146a predicts disease onset and relapse in multiple sclerosis
Yuan Zhou, Ming Chen, R. Lucas, J. Charlesworth +17 more
2018Neurological Sciences17 citations Open access
Semantic Scholar
Using MS induced pluripotent stem cells to investigate MS aetiology.
Alastair J. Fortune, J. L. Fletcher, Nicholas B. Blackburn, K. Young
2022Multiple Sclerosis and Related Disorders15 citations Open access
Semantic Scholar
A retrospective examination of mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study
Nicholas B. Blackburn, J. Charlesworth, J. Marthick, E. Tegg +6 more
2014Oncology Report13 citations Open access
Semantic Scholar
Induced pluripotent stem cell derived pericytes respond to mediators of proliferation and contractility
Natalie E. King, J. Courtney, Lachlan S. Brown, Alastair J. Fortune +10 more
2024Stem cell research & therapeutics10 citations Open access
Semantic Scholar
Genotype phasing in pedigrees using whole-genome sequence data
August N. Blackburn, Lucy Blondell, Mark Z. Kos, Nicholas B. Blackburn +5 more
2020European Journal of Human Genetics9 citations Open access
Semantic Scholar
Glycated Serum Protein Genetics and Pleiotropy with Cardiometabolic Risk Factors
Matthew P. Johnson, Ryan Keyho, Nicholas B. Blackburn, S. Laston +7 more
2019Journal of Diabetes Research9 citations Open access
Semantic Scholar
Evaluating a CLL susceptibility variant in ITGB2 in families with multiple subtypes of hematological malignancies.
Nicholas B. Blackburn, J. Marthick, A. Banks, J. Charlesworth +4 more
2017Blood9 citations Open access
Semantic Scholar
Generation and characterisation of four multiple sclerosis iPSC lines from a single family.
Alastair J. Fortune, B. Taylor, J. Charlesworth, K. Burdon +4 more
2022Stem Cell Research8 citations Open access
Semantic Scholar
Genome-wide linkage scan for loci influencing plasma triglyceride levels
J. Peralta, Nicholas B. Blackburn, Arthur Porto, J. Blangero +1 more
2018BMC Proceedings8 citations Open access
Semantic Scholar
Reliability of genomic predictions of complex human phenotypes
Arthur Porto, J. Peralta, Nicholas B. Blackburn, J. Blangero
2018BMC Proceedings8 citations Open access
Semantic Scholar
Heritability and genetic associations of triglyceride and HDL-C levels using pedigree-based and empirical kinships
Nicholas B. Blackburn, Arthur Porto, J. Peralta, J. Blangero
2018BMC Proceedings8 citations Open access
Semantic Scholar
Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease
Ngan K. Tran, R. Lea, Samuel E. Holland, Q. Nguyen +9 more
2021Scientific Reports7 citations Open access
Semantic Scholar
RNA-seq profiling of a radiation resistant and radiation sensitive prostate cancer cell line highlights opposing regulation of DNA repair and targets for radiosensitization
A. Young, Rachael Berry, A. Holloway, Nicholas B. Blackburn +4 more
2014BMC Cancer5 citations Open access
Semantic Scholar
Identifying the Lipidomic Effects of a Rare Loss-of-Function Deletion in ANGPTL3
Nicholas B. Blackburn, P. Meikle, J. Peralta, Satish Kumar +13 more
2021Circulation Genomic and Precision Medicine4 citations Open access
Semantic Scholar
Massively parallel sequencing in hereditary prostate cancer families reveals a rare risk variant in the DNA repair gene, RAD51C.
J. Marthick, K. Raspin, Georgea R. Foley, Nicholas B. Blackburn +8 more
2021European Journal of Cancer4 citations Open access
Semantic Scholar
Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases
Ming Chen, A. Motyer, B. Taylor, Bennet J. McComish +3 more
2024Human Mutation3 citations Open access
Semantic Scholar
Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
I. Sønderby, Ó. Gústafsson, N. T. Doan, D. Hibar +149 more
2019Molecular Psychiatry3 citations Open access
Semantic Scholar
Pericytes from individuals with multiple sclerosis show reduced contractility but remain responsive to myelin debris, hypoxia, and inflammatory cytokines.
Alastair J. Fortune, Natalie E. King, Roisin A. Moloney, Jake M. Cashion +9 more
2025medRxiv1 citations Open access
Semantic Scholar
The Prevalence of Glaucoma in the Jirel Ethnic Group of Nepal
Sarah Miller, Nicholas B. Blackburn, Matthew P. Johnson, S. Laston +6 more
2022Frontiers in Ophthalmology1 citations Open access
Semantic Scholar
Erratum: Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia (Molecular psychiatry (2020) 25 3 (584-602)) : Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
I. Sønderby, Ó. Gústafsson, N. T. Doan, D. Hibar +46 more
20201 citations
Semantic Scholar
Global overview of sea turtle fibropapillomatosis tumors: a survey of expert opinions and trends
J. Whilde, N. Mashkour, Samantha A. Koda, Catherine B. Eastman +10 more
2024bioRxiv0 citations Open access
Semantic Scholar
Gluk4-containing kainate receptors regulate synaptic communication in the motor cortex and reduce axon degeneration in adult mice
Raphael Ricci, Jessica L Fletcher, Kalina Makowiecki, Renee E. Pepper +7 more
2024bioRxiv0 citations Open access
Semantic Scholar
Induced pluripotent stem cell derived pericytes respond to endogenous mediators of proliferation and contractility
Natalie E. King, J. Courtney, Lachlan S. Brown, Alastair J. Fortune +10 more
2023bioRxiv0 citations Open access
Semantic Scholar
Decision letter: Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria
Mina Ryten, Nicholas B. Blackburn
20200 citations Open access
Semantic Scholar
Genetic analysis localizes a novel locus on chromosome 4q for the glaucoma endophenotype, cup-to-disc ratio: The Jiri Eye Study
Sarah E Miller, Nicholas B. Blackburn, S. Thapa, S. Laston +6 more
20190 citations
Semantic Scholar
Heritability of Ocular Traits in Hispanics: Findings from the Maracaibo Aging Study
Gladys E. Maestre, Nicholas B. Blackburn, Joseph H. Lee, J. Terwilliger +9 more
20180 citations
Semantic Scholar
Accurate Phasing of Pedigree Genotypes Using Whole Genome Sequence Data
August N. Blackburn, Mark Z. Kos, Nicholas B. Blackburn, J. Peralta +5 more
2017bioRxiv0 citations Open access
Semantic Scholar
Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours
L. FitzGerald, K. Raspin, J. Marthick, M. Field +7 more
2017Scientific Reports0 citations Open access
Semantic Scholar
Identifying genetic susceptibilities underlyingfamilial haematological malignancies in aTasmanian family resource
Nicholas B. Blackburn
20150 citations
Semantic Scholar

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