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1
The developmental genetics of congenital heart disease
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The developmental genetics of congenital heart disease

Nature, 2008-02, Vol.451 (7181), p.943-948 [Peer Reviewed Journal]

COPYRIGHT 2008 Nature Publishing Group ;Copyright Nature Publishing Group Feb 21, 2008 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature06801 ;PMID: 18288184 ;CODEN: NATUAS

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2
Identification of a Divergent Lineage Porcine Pestivirus in Nursing Piglets with Congenital Tremors and Reproduction of Disease following Experimental Inoculation
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Identification of a Divergent Lineage Porcine Pestivirus in Nursing Piglets with Congenital Tremors and Reproduction of Disease following Experimental Inoculation

PloS one, 2016-02, Vol.11 (2), p.e0150104-e0150104 [Peer Reviewed Journal]

COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Arruda 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. ;2016 Arruda et al 2016 Arruda et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0150104 ;PMID: 26909691

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3
Genomic analyses implicate noncoding de novo variants in congenital heart disease
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Genomic analyses implicate noncoding de novo variants in congenital heart disease

Nature genetics, 2020-08, Vol.52 (8), p.769-777 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Aug 2020 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-020-0652-z ;PMID: 32601476

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4
Cell therapy of congenital corneal diseases with umbilical mesenchymal stem cells: lumican null mice
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Cell therapy of congenital corneal diseases with umbilical mesenchymal stem cells: lumican null mice

PloS one, 2010-05, Vol.5 (5), p.e10707-e10707 [Peer Reviewed Journal]

COPYRIGHT 2010 Public Library of Science ;COPYRIGHT 2010 Public Library of Science ;2010 Liu et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://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. ;Liu et al. 2010 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0010707 ;PMID: 20502663

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5
A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)
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A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)

PloS one, 2016-05, Vol.11 (5), p.e0154412-e0154412 [Peer Reviewed Journal]

COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 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: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0154412 ;PMID: 27149523

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6
The developmental biology of genetic Notch disorders
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The developmental biology of genetic Notch disorders

Development (Cambridge), 2017-05, Vol.144 (10), p.1743-1763 [Peer Reviewed Journal]

2017. Published by The Company of Biologists Ltd. ;Copyright The Company of Biologists Ltd May 15, 2017 ;ISSN: 0950-1991 ;ISSN: 1477-9129 ;EISSN: 1477-9129 ;DOI: 10.1242/dev.148007 ;PMID: 28512196

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7
Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease
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Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease

Human genetics, 2021-02, Vol.140 (2), p.333-348 [Peer Reviewed Journal]

Springer-Verlag GmbH Germany, part of Springer Nature 2020 ;COPYRIGHT 2020 Springer ;Springer-Verlag GmbH Germany, part of Springer Nature 2020. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-020-02200-z ;PMID: 32696347

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8
LOF variants identifying candidate genes of laterality defects patients with congenital heart disease
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LOF variants identifying candidate genes of laterality defects patients with congenital heart disease

PLoS genetics, 2022-12, Vol.18 (12), p.e1010530-e1010530 [Peer Reviewed Journal]

Copyright: © 2022 Liu 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 2022 Public Library of Science ;2022 Liu et al 2022 Liu et al ;2022 Liu 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.1010530 ;PMID: 36459505

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9
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Nature genetics, 2017-04, Vol.49 (4), p.613-617 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3815 ;PMID: 28288113

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10
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

American journal of human genetics, 2017-03, Vol.100 (3), p.537-545 [Peer Reviewed Journal]

2017 ;Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 2, 2017 ;2017 The Author(s) 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.019 ;PMID: 28190459

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11
Mutations of small heat shock proteins and human congenital diseases
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Mutations of small heat shock proteins and human congenital diseases

Biochemistry (Moscow), 2012-12, Vol.77 (13), p.1500-1514 [Peer Reviewed Journal]

Pleiades Publishing, Ltd. 2012 ;COPYRIGHT 2012 Springer ;ISSN: 0006-2979 ;EISSN: 1608-3040 ;DOI: 10.1134/S0006297912130081 ;PMID: 23379525

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12
Modulation of ADAR mRNA expression in patients with congenital heart defects
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Modulation of ADAR mRNA expression in patients with congenital heart defects

PloS one, 2019-04, Vol.14 (4), p.e0200968-e0200968 [Peer Reviewed Journal]

COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Altaf 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 Altaf et al 2019 Altaf et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0200968 ;PMID: 31039163

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13
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis
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Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis

The Journal of clinical investigation, 2019-07, Vol.129 (7), p.2841-2855 [Peer Reviewed Journal]

COPYRIGHT 2019 American Society for Clinical Investigation ;COPYRIGHT 2019 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Jul 2019 ;2019 American Society for Clinical Investigation 2019 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI98890 ;PMID: 31094706

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14
Global Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to pain
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Global Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to pain

PloS one, 2014-09, Vol.9 (9), p.e105895-e105895 [Peer Reviewed Journal]

COPYRIGHT 2014 Public Library of Science ;COPYRIGHT 2014 Public Library of Science ;2014 Gingras 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. ;2014 Gingras et al 2014 Gingras et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0105895 ;PMID: 25188265

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15
Attenuation of congenital portosystemic shunt reduces inflammation in dogs
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Attenuation of congenital portosystemic shunt reduces inflammation in dogs

PloS one, 2015-02, Vol.10 (2), p.e0117557-e0117557 [Peer Reviewed Journal]

COPYRIGHT 2015 Public Library of Science ;COPYRIGHT 2015 Public Library of Science ;2015 Tivers 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. ;2015 Tivers et al 2015 Tivers et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0117557 ;PMID: 25658922

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16
The duality of human oncoproteins: drivers of cancer and congenital disorders
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The duality of human oncoproteins: drivers of cancer and congenital disorders

Nature reviews. Cancer, 2020-07, Vol.20 (7), p.383-397 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1474-175X ;EISSN: 1474-1768 ;DOI: 10.1038/s41568-020-0256-z ;PMID: 32341551

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17
A role for TENM1 mutations in congenital general anosmia
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A role for TENM1 mutations in congenital general anosmia

Clinical genetics, 2016-09, Vol.90 (3), p.211-219 [Peer Reviewed Journal]

2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12782 ;PMID: 27040985

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18
Concurrent pulmonary hypoplasia and congenital lobar emphysema in a young dog with tension pneumothorax: a rare congenital pulmonary anomaly
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Concurrent pulmonary hypoplasia and congenital lobar emphysema in a young dog with tension pneumothorax: a rare congenital pulmonary anomaly

Acta veterinaria scandinavica, 2019-07, Vol.61 (1), p.37-37, Article 37 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;The Author(s) 2019 ;ISSN: 1751-0147 ;ISSN: 0044-605X ;EISSN: 1751-0147 ;DOI: 10.1186/s13028-019-0472-2 ;PMID: 31349870

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19
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease
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Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

Genome medicine, 2020-08, Vol.12 (1), p.76-13, Article 76 [Peer Reviewed Journal]

COPYRIGHT 2020 BioMed Central Ltd. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2020 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-020-00772-z ;PMID: 32859249

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20
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

Proceedings of the National Academy of Sciences - PNAS, 2011-02, Vol.108 (7), p.2915-2920 [Peer Reviewed Journal]

Copyright © 1993-2008 National Academy of Sciences of the United States of America ;Copyright National Academy of Sciences Feb 15, 2011 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1019645108 ;PMID: 21282601

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