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List of works by Edward J Hollox

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

scientific article

A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.

scientific article

A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B.

scientific article published on 16 January 2015

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

scientific article published on 14 December 2006

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

scholarly article

Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT).

scientific article published on January 2017

Analysis of copy number variation at DMBT1 and age-related macular degeneration

scientific article

Assessment of complement C4 gene copy number using the paralog ratio test

scientific article published on July 2010

Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation

scientific article published on 6 June 2013

Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin

scientific article

Beta-defensins and Crohn's disease: confusion from counting copies.

scientific article

CCL3L1 copy number, HIV load, and immune reconstitution in sub-Saharan Africans

scientific article published on 12 November 2013

Clonal architecture in mesothelioma is prognostic and shapes the tumour microenvironment

scientific article published on 19 March 2021

Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer's disease.

scientific article published on 19 April 2018

Constitutional trisomy 8 and Behçet syndrome.

scientific article published in May 2009

Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3

scientific article

Copy number variation of Fc gamma receptor genes in HIV-infected and HIV-tuberculosis co-infected individuals in sub-Saharan Africa

scientific article published on 8 November 2013

Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn's disease

scientific article published on 27 January 2016

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

scientific article

Copy number variation of the beta-defensin genes in europeans: no supporting evidence for association with lung function, chronic obstructive pulmonary disease or asthma

scientific article published on 03 January 2014

Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease

scientific article

Correction: Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.

scientific article published on 23 March 2016

Detection of copy number changes in DNA from formalin fixed paraffin embedded tissues using paralogue ratio tests.

scientific article published on 30 March 2011

Determination of beta-defensin genomic copy number in different populations: A comparison of three methods

scientific article

Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data

scientific article

Directional and balancing selection in human beta-defensins

scientific article (publication date: 16 April 2008)

Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.

scientific article published on 6 November 2015

Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene

scientific article

Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy

scientific article published on 6 April 2015

Evolutionary genetics: genetics of lactase persistence--fresh lessons in the history of milk drinking.

scientific article published in March 2005

Evolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection

scientific article

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.

scientific article

Fcγ receptors: genetic variation, function, and disease.

scientific article

Genotyping complex structural variation at the malaria-associated human glycophorin locus using a PCR-based strategy

scientific article published on 08 September 2020

Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis

scientific article published on 05 September 2013

Human CCL3L1 copy number variation, gene expression, and the role of the CCL3L1-CCR5 axis in lung function.

scientific article published on 21 February 2018

Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy

scientific article

Human gene copy number variation and infectious disease

scientific article

Immunocytochemical detection of ERG expression in exfoliated urinary cells identifies with high specificity patients with prostate cancer.

scientific article published on June 2015

No Evidence for Association of β-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS.

scientific article published on January 2017

No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype.

scientific article published in December 2003

Population genetics of immune-related multilocus copy number variation in Native Americans

scientific article published in March 2017

Psoriasis is associated with increased beta-defensin genomic copy number

scientific article published on 2 December 2007

Recurrent mutation at the classical haptoglobin structural polymorphism

scientific article

Structural variation of the malaria-associated human glycophorin A-B-E region

scientific article published on 29 June 2020

The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels ⬇️

scholarly article by Walid Algady et al published 1 November 2018 in American Journal of Human Genetics

The causal element for the lactase persistence/non-persistence polymorphism is located in a 1 Mb region of linkage disequilibrium in Europeans.

scientific article

Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis

scientific article published on 20 December 2016

Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.

scientific article

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

scientific article published on March 2013

β-defensin genomic copy number is associated with HIV load and immune reconstitution in sub-saharan Africans

scientific article published on 26 July 2012

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