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1
Identification of rare de novo epigenetic variations in congenital disorders
Identification of rare de novo epigenetic variations in congenital disorders
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Identification of rare de novo epigenetic variations in congenital disorders

Nature communications, 2018-05, Vol.9 (1), p.2064-11, Article 2064 [Peer Reviewed Journal]

2018. 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) 2018 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-018-04540-x ;PMID: 29802345

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2
MVP predicts the pathogenicity of missense variants by deep learning
MVP predicts the pathogenicity of missense variants by deep learning
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MVP predicts the pathogenicity of missense variants by deep learning

Nature communications, 2021-01, Vol.12 (1), p.510-510, Article 510 [Peer Reviewed Journal]

The Author(s) 2021. 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) 2021 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-20847-0 ;PMID: 33479230

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3
Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway
Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway
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Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway

Nature communications, 2020-01, Vol.11 (1), p.479-479, Article 479 [Peer Reviewed Journal]

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) 2020 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-019-14169-z ;PMID: 31980602

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4
A human multi-lineage hepatic organoid model for liver fibrosis
A human multi-lineage hepatic organoid model for liver fibrosis
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A human multi-lineage hepatic organoid model for liver fibrosis

Nature communications, 2021-10, Vol.12 (1), p.6138-6138, Article 6138 [Peer Reviewed Journal]

The Author(s) 2021. 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) 2021 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-021-26410-9 ;PMID: 34686668

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5
Self-assembling human heart organoids for the modeling of cardiac development and congenital heart disease
Self-assembling human heart organoids for the modeling of cardiac development and congenital heart disease
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Self-assembling human heart organoids for the modeling of cardiac development and congenital heart disease

Nature communications, 2021-08, Vol.12 (1), p.5142-5142, Article 5142 [Peer Reviewed Journal]

2021. The Author(s). ;The Author(s) 2021. 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) 2021 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-021-25329-5 ;PMID: 34446706

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6
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes
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Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes

Nature communications, 2023-08, Vol.14 (1), p.4623-4623, Article 4623 [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: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-023-40363-1 ;PMID: 37532691

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7
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
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Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

Nature communications, 2024-02, Vol.15 (1), p.1227-1227 [Peer Reviewed Journal]

2024. The Author(s). ;The Author(s) 2024. 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) 2024 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-024-45099-0 ;PMID: 38418480

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8
Paternal-age-related de novo mutations and risk for five disorders
Paternal-age-related de novo mutations and risk for five disorders
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Paternal-age-related de novo mutations and risk for five disorders

Nature communications, 2019-07, Vol.10 (1), p.3043-9, Article 3043 [Peer Reviewed Journal]

2019. 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) 2019 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-019-11039-6 ;PMID: 31292440

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9
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

Nature communications, 2019-10, Vol.10 (1), p.4722-12, Article 4722 [Peer Reviewed Journal]

2019. 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) 2019 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-019-12582-y ;PMID: 31624253

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10
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine
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Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine

Nature communications, 2024-02, Vol.15 (1), p.1125-1125, Article 1125 [Peer Reviewed Journal]

2024. The Author(s). ;The Author(s) 2024. 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) 2024 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-024-45442-5 ;PMID: 38321032

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11
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Nature communications, 2017-07, Vol.8 (1), p.16077-16077, Article 16077 [Peer Reviewed Journal]

Copyright Nature Publishing Group Jul 2017 ;Copyright © 2017, The Author(s) 2017 The Author(s) ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms16077 ;PMID: 28681861

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12
Loss of RNA expression and allele-specific expression associated with congenital heart disease
Loss of RNA expression and allele-specific expression associated with congenital heart disease
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Loss of RNA expression and allele-specific expression associated with congenital heart disease

Nature communications, 2016-09, Vol.7 (1), p.12824-12824, Article 12824 [Peer Reviewed Journal]

Copyright Nature Publishing Group Sep 2016 ;Copyright © 2016, The Author(s) 2016 The Author(s) ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms12824 ;PMID: 27670201

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13
In situ conversion of defective Treg into SuperTreg cells to treat advanced IPEX-like disorders in mice
In situ conversion of defective Treg into SuperTreg cells to treat advanced IPEX-like disorders in mice
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In situ conversion of defective Treg into SuperTreg cells to treat advanced IPEX-like disorders in mice

Nature communications, 2020-06, Vol.11 (1), p.2781-12, Article 2781 [Peer Reviewed Journal]

The Author(s) 2020. 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) 2020. corrected publication 2021. 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) 2020, corrected publication 2021 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-15836-2 ;PMID: 32493900

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14
Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction
Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction
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Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction

Nature communications, 2020-09, Vol.11 (1), p.4432-4432, Article 4432 [Peer Reviewed Journal]

The Author(s) 2020. 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) 2020 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-17558-x ;PMID: 32887874

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15
ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease
ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease
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ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease

Nature communications, 2014-09, Vol.5 (1), p.4777-4777, Article 4777 [Peer Reviewed Journal]

Copyright Nature Publishing Group Sep 2014 ;Copyright © 2014, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2014 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms5777 ;PMID: 25182715

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16
Genetic sharing and heritability of paediatric age of onset autoimmune diseases
Genetic sharing and heritability of paediatric age of onset autoimmune diseases
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Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Nature communications, 2015-10, Vol.6 (1), p.8442, Article 8442 [Peer Reviewed Journal]

Copyright Nature Publishing Group Oct 2015 ;Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms9442 ;PMID: 26450413

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17
Conformational ensemble of the human TRPV3 ion channel
Conformational ensemble of the human TRPV3 ion channel
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Conformational ensemble of the human TRPV3 ion channel

Nature communications, 2018-11, Vol.9 (1), p.4773-12, Article 4773 [Peer Reviewed Journal]

2018. 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) 2018 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-018-07117-w ;PMID: 30429472

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18
GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation
GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation
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GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

Nature communications, 2019-01, Vol.10 (1), p.127-127, Article 127 [Peer Reviewed Journal]

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. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2019 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-018-08044-6 ;PMID: 30631079

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19
Genetic link between renal birth defects and congenital heart disease
Genetic link between renal birth defects and congenital heart disease
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Genetic link between renal birth defects and congenital heart disease

Nature communications, 2016-03, Vol.7 (1), p.11103-11103, Article 11103 [Peer Reviewed Journal]

Copyright Nature Publishing Group Mar 2016 ;Copyright © 2016, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2016 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms11103 ;PMID: 27002738

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20
Congenital heart disease detection by pediatric electrocardiogram based deep learning integrated with human concepts
Congenital heart disease detection by pediatric electrocardiogram based deep learning integrated with human concepts
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Congenital heart disease detection by pediatric electrocardiogram based deep learning integrated with human concepts

Nature communications, 2024-02, Vol.15 (1), p.976-976, Article 976 [Peer Reviewed Journal]

2024. The Author(s). ;The Author(s) 2024. 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. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-024-44930-y ;PMID: 38302502

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