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A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples

PloS one, 2024-04, Vol.19 (4), p.e0300545-e0300545

2024

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Human intelectin-1 (ITLN1) genetic variation and intestinal expression

Scientific reports, 2021-06, Vol.11 (1), p.12889-12889, Article 12889

2021

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Extensive variation in the intelectin gene family in laboratory and wild mouse strains

Scientific reports, 2021-07, Vol.11 (1), p.15548-15548, Article 15548

2021

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

Proceedings of the National Academy of Sciences - PNAS, 2015-04, Vol.112 (16), p.5105-5110

2015

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Genome structural variation in human evolution

Trends in genetics, 2022-01, Vol.38 (1), p.45-58

2022

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Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank

BMC medical genomics, 2022-05, Vol.15 (1), p.119-119, Article 119

2022

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

BMC genomics, 2020-06, Vol.21 (1), p.446-446, Article 446

2020

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Genetic variation of glycophorins and infectious disease

Immunogenetics (New York), 2023-06, Vol.75 (3), p.201-206

2023

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A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia

Human mutation, 2011-07, Vol.32 (7), p.743-750

2011

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Balancing selection at the human salivary agglutinin gene (DMBT1) driven by host-microbe interactions

iScience, 2022-05, Vol.25 (5), p.104189-104189, Article 104189

2022

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Copy number variation of the beta defensin gene cluster on chromosome 8p influences the bacterial microbiota within the nasopharynx of otitis-prone children

PloS one, 2014-05, Vol.9 (5), p.e98269-e98269

2014

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

PloS one, 2011-02, Vol.6 (2), p.e16768-e16768

2011

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Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection

American journal of human genetics, 2012-06, Vol.90 (6), p.973-985

2012

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Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1

Genome research, 2008-11, Vol.18 (11), p.1686

2008

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

PloS one, 2015-01, Vol.10 (1), p.e0116791-e0116791

2015

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Directional and balancing selection in human beta-defensins

BMC evolutionary biology, 2008-04, Vol.8, p.113

2008

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

Proceedings of the National Academy of Sciences - PNAS, 2009-01, Vol.106 (3), p.853-858

2009

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

PloS one, 2013-11, Vol.8 (11), p.e78165-e78165

2013

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

Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1492, p.127

Hollox, Edward J

2017

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Human gene copy number variation and infectious disease

Human genetics, 2014-10, Vol.133 (10), p.1217-1233

2014

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

PloS one, 2014-01, Vol.9 (1), p.e84192-e84192

2014

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Deleted in malignant brain tumor 1 genetic variation confers urinary tract infection risk in children and mice

Clinical and translational medicine, 2021-07, Vol.11 (7), p.e477-n/a

2021

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

Human genetics, 2018-04, Vol.137 (4), p.305-314

2018

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Human intelectin‐2 (ITLN2) is selectively expressed by secretory Paneth cells

The FASEB journal, 2022-03, Vol.36 (3), p.e22200-n/a

2022

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Clonal architecture in mesothelioma is prognostic and shapes the tumour microenvironment

Nature communications, 2021-03, Vol.12 (1), p.1751-12, Article 1751

2021

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A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples

Human intelectin-1 (ITLN1) genetic variation and intestinal expression

Extensive variation in the intelectin gene family in laboratory and wild mouse strains

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

Genome structural variation in human evolution

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank

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

Genetic variation of glycophorins and infectious disease

A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia

Balancing selection at the human salivary agglutinin gene (DMBT1) driven by host-microbe interactions

Copy number variation of the beta defensin gene cluster on chromosome 8p influences the bacterial microbiota within the nasopharynx of otitis-prone children

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

Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection

Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1

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

Directional and balancing selection in human beta-defensins

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

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

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

Human gene copy number variation and infectious disease

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

Deleted in malignant brain tumor 1 genetic variation confers urinary tract infection risk in children and mice

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

Human intelectin‐2 (ITLN2) is selectively expressed by secretory Paneth cells

Clonal architecture in mesothelioma is prognostic and shapes the tumour microenvironment

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