From Linked Marker to Disease Gene

Gene-Mapping Techniques and Applications ◽

10.1201/9781003066712-5 ◽

2020 ◽

pp. 65-85

Author(s):

David L. Nelson

Keyword(s):

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390 Titin-cap/Telethonin mutation in a patient with hypertrophic cardiomyopathy; a novel disease gene for cardiomyopathies

European Journal of Heart Failure Supplements ◽

10.1016/s1567-4215(05)80234-6 ◽

2005 ◽

Vol 4 (1) ◽

pp. 86-86

Keyword(s):

Hypertrophic Cardiomyopathy ◽

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Faculty Opinions recommendation of Complete MHC haplotype sequencing for common disease gene mapping.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1019621.222476 ◽

2004 ◽

Author(s):

Deborah Charlesworth

Keyword(s):

Gene Mapping ◽

Disease Gene ◽

Common Disease ◽

Disease Gene Mapping ◽

Mhc Haplotype ◽

Haplotype Sequencing

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Faculty Opinions recommendation of A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1047044.506565 ◽

2006 ◽

Author(s):

Eduard Stange

Keyword(s):

Inflammatory Bowel Disease ◽

Association Study ◽

Bowel Disease ◽

Genome Wide Association Study ◽

Disease Gene ◽

Genome Wide Association ◽

Genome Wide ◽

A Genome ◽

Inflammatory Bowel

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Faculty Opinions recommendation of A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1047044.505896 ◽

2006 ◽

Author(s):

Paul Lyons

Keyword(s):

Inflammatory Bowel Disease ◽

Association Study ◽

Bowel Disease ◽

Genome Wide Association Study ◽

Disease Gene ◽

Genome Wide Association ◽

Genome Wide ◽

A Genome ◽

Inflammatory Bowel

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Faculty Opinions recommendation of Computational tools for prioritizing candidate genes: boosting disease gene discovery.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.722303568.793515871 ◽

2016 ◽

Author(s):

Pietro Chiurazzi

Keyword(s):

Candidate Genes ◽

Disease Gene ◽

Gene Discovery ◽

Computational Tools ◽

Disease Gene Discovery

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Faculty Opinions recommendation of Atheroprotective roles of smooth muscle cell phenotypic modulation and the TCF21 disease gene as revealed by single-cell analysis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.736285521.793563782 ◽

2019 ◽

Author(s):

Levon Khachigian

Keyword(s):

Smooth Muscle ◽

Smooth Muscle Cell ◽

Single Cell ◽

Muscle Cell ◽

Disease Gene ◽

Single Cell Analysis ◽

Cell Analysis ◽

Phenotypic Modulation

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Uncovering Atherosclerotic Risk Disease Gene Based on Expression and Network Topological Structure*

PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS ◽

10.3724/sp.j.1206.2010.00687 ◽

2010 ◽

Vol 37 (8) ◽

pp. 916-922

Author(s):

Hong WANG ◽

Xiao-Li QU ◽

Yan ZHAO ◽

Jing ZHANG ◽

Li-Na CHEN

Keyword(s):

Topological Structure ◽

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First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

European Journal of Human Genetics ◽

10.1038/s41431-020-0609-9 ◽

2020 ◽

Vol 28 (8) ◽

pp. 1034-1043 ◽

Author(s):

Holger Hengel ◽

Rebecca Buchert ◽

Marc Sturm ◽

Tobias B. Haack ◽

Yvonne Schelling ◽

...

Keyword(s):

Exome Sequencing ◽

Neurological Disorders ◽

Disease Gene ◽

Gene Discovery ◽

Disease Gene Discovery ◽

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Understandings of psychological difficulties in people with the Huntington's disease gene and their expectations of psychological therapy

Psychology and Psychotherapy Theory Research and Practice ◽

10.1111/papt.12157 ◽

2017 ◽

Vol 91 (2) ◽

pp. 216-231 ◽

Author(s):

Rachael Theed ◽

Fiona J. R. Eccles ◽

Jane Simpson

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Disease Gene ◽

Psychological Therapy ◽

Psychological Difficulties

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Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

European Journal of Human Genetics ◽

10.1038/s41431-021-00909-7 ◽

2021 ◽

Author(s):

Holger Hengel ◽

Rebecca Buchert ◽

Marc Sturm ◽

Tobias B. Haack ◽

Yvonne Schelling ◽

...

Keyword(s):

Exome Sequencing ◽

Neurological Disorders ◽

Disease Gene ◽

Gene Discovery ◽

Disease Gene Discovery ◽

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