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1 |
Material Type: Article
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Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypesPLoS genetics, 2023-10, Vol.19 (10), p.e1010972-e1010972 [Peer Reviewed Journal]COPYRIGHT 2023 Public Library of Science ;2023 Xie et al 2023 Xie et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010972 ;PMID: 37812589Full text available |
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Material Type: Article
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Insulin secretion deficits in a Prader-Willi syndrome [beta]-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperonesPLoS genetics, 2023-04, Vol.19 (4), p.e1010710 [Peer Reviewed Journal]COPYRIGHT 2023 Public Library of Science ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010710Full text available |
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Material Type: Article
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Quantifying connectivity between local Plasmodium falciparum malaria parasite populations using identity by descentPLoS genetics, 2017-10, Vol.13 (10), p.e1007065-e1007065 [Peer Reviewed Journal]COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: malaria parasite populations using identity by descent. PLoS Genet13(10): e1007065. https://doi.org/10.1371/journal.pgen.1007065 ;2017 Taylor et al 2017 Taylor et al ;2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: malaria parasite populations using identity by descent. PLoS Genet13(10): e1007065. https://doi.org/10.1371/journal.pgen.1007065 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1007065 ;PMID: 29077712Full text available |
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Material Type: Article
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Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eyePLoS genetics, 2018-03, Vol.14 (3), p.e1007246-e1007246 [Peer Reviewed Journal]COPYRIGHT 2018 Public Library of Science ;COPYRIGHT 2018 Public Library of Science ;2018 Hocking et al 2018 Hocking et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1007246 ;PMID: 29522511Full text available |
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Material Type: Article
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Strategies to investigate and mitigate collider bias in genetic and Mendelian randomisation studies of disease progressionPLoS genetics, 2023-02, Vol.19 (2), p.e1010596-e1010596 [Peer Reviewed Journal]Copyright: © 2023 Mitchell et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ;COPYRIGHT 2023 Public Library of Science ;2023 Mitchell et al 2023 Mitchell et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010596 ;PMID: 36821633Full text available |
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Material Type: Article
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Genome biology and evolution of mating-type loci in four cereal rust fungiPLoS genetics, 2024-03, Vol.20 (3), p.e1011207-e1011207 [Peer Reviewed Journal]Copyright: © 2024 Luo et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ;COPYRIGHT 2024 Public Library of Science ;2024 Luo et al 2024 Luo et al ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1011207 ;PMID: 38498573Full text available |
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Material Type: Article
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Global characterization of copy number variants in epilepsy patients from whole genome sequencingPLoS genetics, 2018-04, Vol.14 (4), p.e1007285-e1007285 [Peer Reviewed Journal]COPYRIGHT 2018 Public Library of Science ;COPYRIGHT 2018 Public Library of Science ;2018 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, et al. (2018) Global characterization of copy number variants in epilepsy patients from whole genome sequencing. PLoS Genet 14(4): e1007285. https://doi.org/10.1371/journal.pgen.1007285 ;2018 Monlong et al 2018 Monlong et al ;2018 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, et al. (2018) Global characterization of copy number variants in epilepsy patients from whole genome sequencing. PLoS Genet 14(4): e1007285. https://doi.org/10.1371/journal.pgen.1007285 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1007285 ;PMID: 29649218Full text available |
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Material Type: Article
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Genome mining yields putative disease-associated ROMK variants with distinct defectsPLoS genetics, 2023-11, Vol.19 (11), p.e1011051-e1011051 [Peer Reviewed Journal]Copyright: © 2023 Nguyen et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ;COPYRIGHT 2023 Public Library of Science ;2023 Nguyen et al 2023 Nguyen et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1011051 ;PMID: 37956218Full text available |
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Material Type: Article
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Circadian control of heparan sulfate levels times phagocytosis of amyloid beta aggregatesPLoS genetics, 2022-02, Vol.18 (2), p.e1009994-e1009994 [Peer Reviewed Journal]COPYRIGHT 2022 Public Library of Science ;2022 Clark et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 Clark et al 2022 Clark et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1009994 ;PMID: 35143487Full text available |
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10 |
Material Type: Article
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Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and micePLoS genetics, 2022-03, Vol.18 (3), p.e1010114-e1010114 [Peer Reviewed Journal]COPYRIGHT 2022 Public Library of Science ;2022 Rawlins et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;2022 Rawlins et al 2022 Rawlins et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010114 ;PMID: 35298461Full text available |
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Material Type: Article
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Unraveling the genetics of arsenic toxicity with cellular morphology QTLPLoS genetics, 2024-04, Vol.20 (4), p.e1011248-e1011248 [Peer Reviewed Journal]Copyright: © 2024 O’Connor et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ;COPYRIGHT 2024 Public Library of Science ;2024 O’Connor et al 2024 O’Connor et al ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1011248 ;PMID: 38662777Full text available |
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Material Type: Article
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A polycistronic transgene design for combinatorial genetic perturbations from a single transcript in DrosophilaPLoS genetics, 2023-06, Vol.19 (6), p.e1010792-e1010792 [Peer Reviewed Journal]Copyright: © 2023 Teague et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ;COPYRIGHT 2023 Public Library of Science ;2023 Teague et al 2023 Teague et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010792 ;PMID: 37267433Full text available |
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Material Type: Article
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RET enhancer haplotype-dependent remodeling of the human fetal gut development programPLoS genetics, 2023-11, Vol.19 (11), p.e1011030-e1011030 [Peer Reviewed Journal]Copyright: © 2023 Chatterjee et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ;COPYRIGHT 2023 Public Library of Science ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1011030 ;PMID: 37948459Full text available |
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Material Type: Article
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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionPLoS genetics, 2019-04, Vol.15 (4), p.e1008088-e1008088 [Peer Reviewed Journal]COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Tiosano et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2019 Tiosano et al 2019 Tiosano et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1008088 ;PMID: 31034465Full text available |
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Material Type: Article
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Genome wide association study of Escherichia coli bloodstream infection isolates identifies genetic determinants for the portal of entry but not fatal outcomePLoS genetics, 2022-03, Vol.18 (3), p.e1010112-e1010112 [Peer Reviewed Journal]COPYRIGHT 2022 Public Library of Science ;2022 Denamur et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;2022 Denamur et al 2022 Denamur et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010112 ;PMID: 35324915Full text available |
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Material Type: Article
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Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitisPLoS genetics, 2019-04, Vol.15 (4), p.e1008038-e1008038 [Peer Reviewed Journal]COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Li et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2019 Li et al 2019 Li et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1008038 ;PMID: 30946743Full text available |
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Material Type: Article
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Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunctionPLoS genetics, 2022-05, Vol.18 (5), p.e1010190-e1010190 [Peer Reviewed Journal]COPYRIGHT 2022 Public Library of Science ;2022 Milenkovic et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 Milenkovic et al 2022 Milenkovic et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010190 ;PMID: 35533204Full text available |
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Material Type: Article
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Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohortPLoS genetics, 2023-01, Vol.19 (1), p.e1010584-e1010584 [Peer Reviewed Journal]Copyright: © 2023 Hui et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ;COPYRIGHT 2023 Public Library of Science ;2023 Hui et al 2023 Hui et al ;2023 Hui et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010584 ;PMID: 36656851Full text available |
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Material Type: Article
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ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcificationPLoS genetics, 2022-04, Vol.18 (4), p.e1010192-e1010192 [Peer Reviewed Journal]COPYRIGHT 2022 Public Library of Science ;2022 Ralph et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 Ralph et al 2022 Ralph et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010192 ;PMID: 35482848Full text available |
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Material Type: Article
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A mega-analysis of expression quantitative trait loci in retinal tissuePLoS genetics, 2020-09, Vol.16 (9), p.e1008934-e1008934 [Peer Reviewed Journal]COPYRIGHT 2020 Public Library of Science ;COPYRIGHT 2020 Public Library of Science ;This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication: https://creativecommons.org/publicdomain/zero/1.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1008934 ;PMID: 32870927Full text available |