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Results 1 - 20 of 57  for All Library Resources

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Refined by: Database: Public Library of Science (PLoS) remove Journal Title: Plos Genetics remove
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1
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes
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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 genotypes

PLoS 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: 37812589

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2
Insulin secretion deficits in a Prader-Willi syndrome [beta]-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones
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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 chaperones

PLoS 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.1010710

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3
Quantifying connectivity between local Plasmodium falciparum malaria parasite populations using identity by descent
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Quantifying connectivity between local Plasmodium falciparum malaria parasite populations using identity by descent

PLoS 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: 29077712

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4
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye
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Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye

PLoS 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: 29522511

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5
Strategies to investigate and mitigate collider bias in genetic and Mendelian randomisation studies of disease progression
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Strategies to investigate and mitigate collider bias in genetic and Mendelian randomisation studies of disease progression

PLoS 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: 36821633

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6
Genome biology and evolution of mating-type loci in four cereal rust fungi
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Genome biology and evolution of mating-type loci in four cereal rust fungi

PLoS 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: 38498573

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7
Global characterization of copy number variants in epilepsy patients from whole genome sequencing
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Global characterization of copy number variants in epilepsy patients from whole genome sequencing

PLoS 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: 29649218

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8
Genome mining yields putative disease-associated ROMK variants with distinct defects
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Genome mining yields putative disease-associated ROMK variants with distinct defects

PLoS 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: 37956218

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9
Circadian control of heparan sulfate levels times phagocytosis of amyloid beta aggregates
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Circadian control of heparan sulfate levels times phagocytosis of amyloid beta aggregates

PLoS 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: 35143487

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10
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice
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Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

PLoS 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: 35298461

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11
Unraveling the genetics of arsenic toxicity with cellular morphology QTL
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Unraveling the genetics of arsenic toxicity with cellular morphology QTL

PLoS 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: 38662777

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12
A polycistronic transgene design for combinatorial genetic perturbations from a single transcript in Drosophila
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A polycistronic transgene design for combinatorial genetic perturbations from a single transcript in Drosophila

PLoS 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: 37267433

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13
RET enhancer haplotype-dependent remodeling of the human fetal gut development program
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RET enhancer haplotype-dependent remodeling of the human fetal gut development program

PLoS 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: 37948459

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14
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

PLoS 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: 31034465

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15
Genome wide association study of Escherichia coli bloodstream infection isolates identifies genetic determinants for the portal of entry but not fatal outcome
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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 outcome

PLoS 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: 35324915

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16
Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis
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Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis

PLoS 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: 30946743

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17
Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction
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Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction

PLoS 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: 35533204

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18
Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort
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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 cohort

PLoS 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: 36656851

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19
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification
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ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification

PLoS 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: 35482848

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20
A mega-analysis of expression quantitative trait loci in retinal tissue
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A mega-analysis of expression quantitative trait loci in retinal tissue

PLoS 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: 32870927

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