(Q37756529)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485443%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

review article

1 reference

title

The discovery of human genetic variations and their use as disease markers: past, present and future (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485443%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Chee Seng Ku

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485443%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

En Yun Loy

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485443%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Kee Seng Chia

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485443%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

publication date

20 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485443%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485443%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485443%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485443%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

403-415

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485443%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/jhg.2010.55

2 February 2020

exact match

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Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

21 January 2018

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Human tandem repeat sequences in forensic DNA typing

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HLA matching in allogeneic stem cell transplantation

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Individualization of thiopurine therapy: thiopurine S-methyltransferase and beyond

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Completing the map of human genetic variation

21 January 2018

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Paired-end mapping reveals extensive structural variation in the human genome

21 January 2018

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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

21 January 2018

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Inversion variants in the human genome: role in disease and genome architecture

21 January 2018

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Characterization of six human disease-associated inversion polymorphisms

21 January 2018

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Study of regions of extended homozygosity provides a powerful method to explore haplotype structure of human populations.

21 January 2018

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The signatures of autozygosity among patients with colorectal cancer.

21 January 2018

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Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

21 January 2018

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Extended homozygosity is not usually due to cytogenetic abnormality

21 January 2018

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

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21 January 2018

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21 January 2018

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Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

21 January 2018

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Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

21 January 2018

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Segmental copy number variation shapes tissue transcriptomes.

21 January 2018

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The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells

21 January 2018

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Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants

21 January 2018

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Genome-wide association studies in cancer.

21 January 2018

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Autoimmune diseases: insights from genome-wide association studies

21 January 2018

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The pursuit of genome-wide association studies: where are we now?

21 January 2018

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The genetics and immunopathogenesis of inflammatory bowel disease

21 January 2018

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New links to the pathogenesis of Crohn disease provided by genome-wide association scans

21 January 2018

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Personal genomes: The case of the missing heritability

21 January 2018

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Strong association of de novo copy number mutations with autism

21 January 2018

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Psoriasis is associated with increased beta-defensin genomic copy number

21 January 2018

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The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

21 January 2018

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Copy number variations and cancer susceptibility

21 January 2018

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Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

21 January 2018

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Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

21 January 2018

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Frequency of Germline Genomic Homozygosity Associated With Cancer Cases

21 January 2018

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Trinucleotide repeats are prevalent among cancer-related genes

21 January 2018

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7 January 2021

DNA sequencing. A plan to capture human diversity in 1000 genomes

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7 January 2021

1000 Genomes Project promises closer look at variation in human genome

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7 January 2021

A highly annotated whole-genome sequence of a Korean individual

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7 January 2021

Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4

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7 January 2021

Finishing the euchromatic sequence of the human genome

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7 January 2021

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.55

7 January 2021

High-resolution mapping for essential hypertension using microsatellite markers

1 reference

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7 January 2021

Trinucleotide repeats in human genome and exome.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.55

7 January 2021

Long contiguous stretches of homozygosity in the human genome

1 reference

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7 January 2021