Search Results

Exome sequencing identifies novel genetic variants associated with varicose veins.

• Authors : Zhang DD; Department of Neurology, Qingdao Municipal Hospital, Qingdao University, Qingdao, China.; He XY

Subjects: Varicose Veins*/Varicose Veins*/Varicose Veins*/genetics ; Exome Sequencing* ; Genome-Wide Association Study*

• Source: PLoS genetics [PLoS Genet] 2024 Jul 09; Vol. 20 (7), pp. e1011339. Date of Electronic Publication: 2024 Jul 09 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.

• Authors : Gordon DM; Cunningham D ...

Subjects: Exome*/Exome*/Exome*/genetics ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics; Bone Morphogenetic Proteins/Bone Morphogenetic Proteins/Bone Morphogenetic Proteins/genetics

• Source: PLoS genetics [PLoS Genet] 2022 Jun 23; Vol. 18 (6), pp. e1010236. Date of Electronic Publication: 2022 Jun 23 (Print Publication: 2022).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

• Authors : Butler-Laporte G; COVID-19 Host Genetics Initiative; DeCOI Host Genetics Group; GEN-COVID Multicenter Study (Italy)

Subjects: Exome*/Exome*/Exome*/genetics ; COVID-19*/COVID-19*/COVID-19*/genetics; Humans

• Source: PLoS genetics [PLoS Genet] 2022 Nov 03; Vol. 18 (11), pp. e1010367. Date of Electronic Publication: 2022 Nov 03 (Print Publication: 2022).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.

• Authors : Xie Y; Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, United States of America.; Jiang W

Subjects: Exome* ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics; Animals

• Source: PLoS genetics [PLoS Genet] 2022 Jun 07; Vol. 18 (6), pp. e1010252. Date of Electronic Publication: 2022 Jun 07 (Print Publication: 2022).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

• Authors : Emond MJ; Louie T ...

Subjects: Exome* ; Genes, Modifier* ; Phenotype*

• Source: PLoS genetics [PLoS Genet] 2015 Jun 05; Vol. 11 (6), pp. e1005273. Date of Electronic Publication: 2015 Jun 05 (Print Publication: 2015).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Analysis of 7,815 cancer exomes reveals associations between mutational processes and somatic driver mutations.

• Authors : Poulos RC; Prince of Wales Clinical School and Lowy Cancer Research Centre, Faculty of Medicine, UNSW Sydney, NSW, Australia.; Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, NSW, Australia.

Subjects: Exome* ; Mutation*; Neoplasms/Neoplasms/Neoplasms/*geneticsTurcot syndrome

• Source: PLoS genetics [PLoS Genet] 2018 Nov 09; Vol. 14 (11), pp. e1007779. Date of Electronic Publication: 2018 Nov 09 (Print Publication: 2018).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Whole Exome Sequencing in Atrial Fibrillation.

• Authors : Lubitz SA; NHLBI GO Exome Sequencing Project

Subjects: Genetic Predisposition to Disease*; Atrial Fibrillation/Atrial Fibrillation/Atrial Fibrillation/*genetics ; Exome/Exome/Exome/*genetics

• Source: PLoS genetics [PLoS Genet] 2016 Sep 02; Vol. 12 (9), pp. e1006284. Date of Electronic Publication: 2016 Sep 02 (Print Publication: 2016).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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

• Authors : Wain LV; University of Leicester, Department of Health Sciences, Leicester, United Kingdom.; Sayers I

Subjects: Exome*; Cilia/Cilia/Cilia/*physiology ; Proteins/Proteins/Proteins/*physiology

• Source: PLoS genetics [PLoS Genet] 2014 May 01; Vol. 10 (5), pp. e1004314. Date of Electronic Publication: 2014 May 01 (Print Publication: 2014).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.

• Authors : Villanueva P; SLI Consortium

Subjects: Genetic Association Studies*; Apraxias/Apraxias/Apraxias/*genetics ; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics

• Source: PLoS genetics [PLoS Genet] 2015 Mar 17; Vol. 11 (3), pp. e1004925. Date of Electronic Publication: 2015 Mar 17 (Print Publication: 2015).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

• Authors : Kumpula, Timo A.; Vorimo, Sandra; Mattila, Taneli T.

• Source: PLoS Genetics. August 14, 2023, Vol. 19 Issue 8, pe1010889

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