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21
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
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Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

Journal of medical genetics, 2022-03, Vol.59 (3), p.270-278 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107317 ;PMID: 33461977

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22
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice
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Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice

PLoS genetics, 2018-02, Vol.14 (2), p.e1007243 [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: Freschi A, Hur SK, Valente FM, Ideraabdullah FY, Sparago A, Gentile MT, et al. (2018) Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice. PLoS Genet 14(2): e1007243. https://doi.org/10.1371/journal.pgen.1007243 ;2018 Freschi et al 2018 Freschi 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: Freschi A, Hur SK, Valente FM, Ideraabdullah FY, Sparago A, Gentile MT, et al. (2018) Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice. PLoS Genet 14(2): e1007243. https://doi.org/10.1371/journal.pgen.1007243 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1007243 ;PMID: 29470501

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23
Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights Into Altered Brain Maturation
Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights Into Altered Brain Maturation
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Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights Into Altered Brain Maturation

Circulation research, 2017-03, Vol.120 (6), p.960-977 [Peer Reviewed Journal]

2017 American Heart Association, Inc. ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.116.309048 ;PMID: 28302742

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24
Neurology of inherited glycosylation disorders
Neurology of inherited glycosylation disorders
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Neurology of inherited glycosylation disorders

Lancet neurology, 2012-05, Vol.11 (5), p.453-466 [Peer Reviewed Journal]

Elsevier Ltd ;2012 Elsevier Ltd ;Copyright © 2012 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited May 2012 ;ISSN: 1474-4422 ;ISSN: 1474-4465 ;EISSN: 1474-4465 ;DOI: 10.1016/S1474-4422(12)70040-6 ;PMID: 22516080 ;CODEN: LANCAO

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25
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
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Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications

Journal of Medical Genetics, 2016-02, Vol.53 (2), p.73-90 [Peer Reviewed Journal]

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;Copyright: 2016 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2015-103366 ;PMID: 26502893 ;CODEN: JMDGAE

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26
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

American journal of human genetics, 2015-02, Vol.96 (2), p.245-257 [Peer Reviewed Journal]

2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Feb 5, 2015 ;2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.12.013 ;PMID: 25597510

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27
The emergence of Zika virus and its new clinical syndromes
The emergence of Zika virus and its new clinical syndromes
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The emergence of Zika virus and its new clinical syndromes

Nature (London), 2018-08, Vol.560 (7720), p.573-581 [Peer Reviewed Journal]

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Aug 30, 2018 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-018-0446-y ;PMID: 30158602

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28
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Genome medicine, 2024-04, Vol.16 (1), p.53-53 [Peer Reviewed Journal]

2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;2024. 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) 2024 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-024-01312-9 ;PMID: 38570875

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29
Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease
Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease
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Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease

PloS one, 2011-08, Vol.6 (8), p.e23755-e23755 [Peer Reviewed Journal]

COPYRIGHT 2011 Public Library of Science ;COPYRIGHT 2011 Public Library of Science ;2011 Bedard 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. ;Bedard et al. 2011 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0023755 ;PMID: 21858219

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30
An unusual presentation of developmental anomalies of the cardiovascular system including tetralogy of fallot, double outlet right ventricle, patent foramen ovale and persistent right aortic arch in a Friesian calf
An unusual presentation of developmental anomalies of the cardiovascular system including tetralogy of fallot, double outlet right ventricle, patent foramen ovale and persistent right aortic arch in a Friesian calf
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An unusual presentation of developmental anomalies of the cardiovascular system including tetralogy of fallot, double outlet right ventricle, patent foramen ovale and persistent right aortic arch in a Friesian calf

BMC veterinary research, 2020-06, Vol.16 (1), p.224-224, Article 224 [Peer Reviewed Journal]

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: 1746-6148 ;EISSN: 1746-6148 ;DOI: 10.1186/s12917-020-02439-8 ;PMID: 32605568

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31
Placental P-glycoprotein inhibition enhances susceptibility to Di-(2-ethylhexyl)-phthalate induced cardiac malformations in mice: A possibly promising target for congenital heart defects prevention
Placental P-glycoprotein inhibition enhances susceptibility to Di-(2-ethylhexyl)-phthalate induced cardiac malformations in mice: A possibly promising target for congenital heart defects prevention
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Placental P-glycoprotein inhibition enhances susceptibility to Di-(2-ethylhexyl)-phthalate induced cardiac malformations in mice: A possibly promising target for congenital heart defects prevention

PloS one, 2019-05, Vol.14 (5), p.e0214873-e0214873 [Peer Reviewed Journal]

COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Tang 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 Tang et al 2019 Tang et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0214873 ;PMID: 31086358

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32
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
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MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

The Journal of cell biology, 2011-03, Vol.192 (6), p.1023-1041 [Peer Reviewed Journal]

2011 Williams et al. 2011 ;ISSN: 0021-9525 ;EISSN: 1540-8140 ;DOI: 10.1083/jcb.201012116 ;PMID: 21422230 ;CODEN: JCLBA3

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33
Congenital lipodystrophy induces severe osteosclerosis
Congenital lipodystrophy induces severe osteosclerosis
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Congenital lipodystrophy induces severe osteosclerosis

PLoS genetics, 2019-06, Vol.15 (6), p.e1008244-e1008244 [Peer Reviewed Journal]

COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Zou 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 Zou et al 2019 Zou et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1008244 ;PMID: 31233501

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34
Phenotypic spectrum of FGF10 -related disorders: a systematic review
Phenotypic spectrum of FGF10 -related disorders: a systematic review
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Phenotypic spectrum of FGF10 -related disorders: a systematic review

PeerJ (San Francisco, CA), 2022-09, Vol.10, p.e14003-e14003, Article e14003 [Peer Reviewed Journal]

2022 Bzdega and Karolak. ;COPYRIGHT 2022 PeerJ. Ltd. ;2022 Bzdega and Karolak. 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, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ) and either DOI or URL of the article must be cited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 Bzdega and Karolak 2022 Bzdega and Karolak ;ISSN: 2167-8359 ;EISSN: 2167-8359 ;DOI: 10.7717/peerj.14003 ;PMID: 36124135

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35
Clinical features and outcome of dogs and cats with bidirectional and continuous right‐to‐left shunting patent ductus arteriosus
Clinical features and outcome of dogs and cats with bidirectional and continuous right‐to‐left shunting patent ductus arteriosus
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Clinical features and outcome of dogs and cats with bidirectional and continuous right‐to‐left shunting patent ductus arteriosus

Journal of veterinary internal medicine, 2021-03, Vol.35 (2), p.780-788 [Peer Reviewed Journal]

2021 The Authors. published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine. ;2021 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine. ;COPYRIGHT 2021 Wiley Subscription Services, Inc. ;2021. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0891-6640 ;EISSN: 1939-1676 ;DOI: 10.1111/jvim.16072 ;PMID: 33634497

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36
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
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STIGMA: Single-cell tissue-specific gene prioritization using machine learning

American journal of human genetics, 2024-02, Vol.111 (2), p.338-349 [Peer Reviewed Journal]

2023 The Authors ;Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved. ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2023.12.011 ;PMID: 38228144

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37
Gain-of-function mutations in Trim71 linked to congenital hydrocephalus
Gain-of-function mutations in Trim71 linked to congenital hydrocephalus
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Gain-of-function mutations in Trim71 linked to congenital hydrocephalus

PLoS biology, 2023-02, Vol.21 (2), p.e3001993-e3001993 [Peer Reviewed Journal]

Copyright: © 2023 Chen 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. ;2023 Chen 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. ;2023 Chen et al 2023 Chen et al ;ISSN: 1545-7885 ;ISSN: 1544-9173 ;EISSN: 1545-7885 ;DOI: 10.1371/journal.pbio.3001993 ;PMID: 36757939

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38
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein
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Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein

PLoS genetics, 2017-07, Vol.13 (7), p.e1006936-e1006936 [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: Scott CA, Marsden AN, Rebagliati MR, Zhang Q, Chamling X, Searby CC, et al. (2017) Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet 13(7): e1006936. https://doi.org/10.1371/journal.pgen.1006936 ;2017 Scott et al 2017 Scott 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: Scott CA, Marsden AN, Rebagliati MR, Zhang Q, Chamling X, Searby CC, et al. (2017) Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet 13(7): e1006936. https://doi.org/10.1371/journal.pgen.1006936 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1006936 ;PMID: 28753627

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39
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
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Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

Nature reviews. Genetics, 2009-11, Vol.10 (11), p.756-768 [Peer Reviewed Journal]

2015 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2009 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg2663 ;PMID: 19809470

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40
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia
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Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia

European journal of human genetics : EJHG, 2023-08, Vol.31 (8), p.887-894 [Peer Reviewed Journal]

2023. The Author(s). ;The Author(s) 2023. This work is published 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) 2023 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-023-01327-7 ;PMID: 36935417

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