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1
Whole exome sequencing reveals rare variants linked to congenital pouch colon
Whole exome sequencing reveals rare variants linked to congenital pouch colon
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Whole exome sequencing reveals rare variants linked to congenital pouch colon

Scientific reports, 2018-04, Vol.8 (1), p.6646-8, Article 6646 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-018-24967-y ;PMID: 29703930

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2
Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation
Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation
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Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Scientific reports, 2023-10, Vol.13 (1), p.17648-17648, Article 17648 [Peer Reviewed Journal]

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. ;Springer Nature Limited 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-42178-y ;PMID: 37848450

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3
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
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Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum

Scientific reports, 2023-01, Vol.13 (1), p.1376-1376, Article 1376 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-28405-6 ;PMID: 36697461

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4
Microdeletions and microduplications linked to severe congenital disorders in infertile men
Microdeletions and microduplications linked to severe congenital disorders in infertile men
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Microdeletions and microduplications linked to severe congenital disorders in infertile men

Scientific reports, 2023-01, Vol.13 (1), p.574-574, Article 574 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-27750-w ;PMID: 36631630

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5
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
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A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

Scientific reports, 2021-09, Vol.11 (1), p.19099-19099, Article 19099 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-98646-w ;PMID: 34580403

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6
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases
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Novel JAG1 variants leading to Alagille syndrome in two Chinese cases

Scientific reports, 2024-01, Vol.14 (1), p.1812-1812, Article 1812 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-024-52357-0 ;PMID: 38245625

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7
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
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Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

Scientific reports, 2022-10, Vol.12 (1), p.17079-17079, Article 17079 [Peer Reviewed Journal]

2022. The Author(s). ;The Author(s) 2022. 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) 2022 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-022-21751-x ;PMID: 36224347

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8
De novo damaging variants associated with congenital heart diseases contribute to the connectome
De novo damaging variants associated with congenital heart diseases contribute to the connectome
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De novo damaging variants associated with congenital heart diseases contribute to the connectome

Scientific reports, 2020-04, Vol.10 (1), p.7046-7046, Article 7046 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-020-63928-2 ;PMID: 32341405

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9
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

Scientific reports, 2022-09, Vol.12 (1), p.15184-15184, Article 15184 [Peer Reviewed Journal]

The Author(s) 2022. 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) 2022 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-022-19274-6 ;PMID: 36071085

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10
Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
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Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

Scientific reports, 2021-10, Vol.11 (1), p.19791-19791, Article 19791 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-98752-9 ;PMID: 34611197

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11
Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery
Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery
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Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery

Scientific reports, 2022-09, Vol.12 (1), p.15899-15899, Article 15899 [Peer Reviewed Journal]

The Author(s) 2022. 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) 2022 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-022-20037-6 ;PMID: 36151134

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12
Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome
Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome
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Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome

Scientific reports, 2020-12, Vol.10 (1), p.21224, Article 21224 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-020-78205-5 ;PMID: 33277604

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13
Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders
Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders
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Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders

Scientific reports, 2018-06, Vol.8 (1), p.9449-7, Article 9449 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-018-27824-0 ;PMID: 29930340

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14
Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity
Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity
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Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity

Scientific reports, 2021-04, Vol.11 (1), p.9106-17, Article 9106 [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. ;Attribution ;The Author(s) 2021 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-88147-1 ;PMID: 33907211

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15
Association of MTR gene polymorphisms with the occurrence of non-syndromic congenital heart disease: a case-control study
Association of MTR gene polymorphisms with the occurrence of non-syndromic congenital heart disease: a case-control study
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Association of MTR gene polymorphisms with the occurrence of non-syndromic congenital heart disease: a case-control study

Scientific reports, 2023-06, Vol.13 (1), p.9424-9424, Article 9424 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-36330-x ;PMID: 37296303

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16
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Scientific reports, 2021-01, Vol.11 (1), p.1526-1526, Article 1526 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-81093-y ;PMID: 33452396

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17
Congenital collagenopathies increased the risk of inguinal hernia developing and repair: analysis from a nationwide population-based cohort study
Congenital collagenopathies increased the risk of inguinal hernia developing and repair: analysis from a nationwide population-based cohort study
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Congenital collagenopathies increased the risk of inguinal hernia developing and repair: analysis from a nationwide population-based cohort study

Scientific reports, 2022-02, Vol.12 (1), p.2360-2360, Article 2360 [Peer Reviewed Journal]

2022. The Author(s). ;The Author(s) 2022. 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) 2022 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-022-06367-5 ;PMID: 35149748

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18
Trends in mortality rate in patients with congenital heart disease undergoing noncardiac surgical procedures at children's hospitals
Trends in mortality rate in patients with congenital heart disease undergoing noncardiac surgical procedures at children's hospitals
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Trends in mortality rate in patients with congenital heart disease undergoing noncardiac surgical procedures at children's hospitals

Scientific reports, 2021-01, Vol.11 (1), p.1543-1543, Article 1543 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-81161-3 ;PMID: 33452368

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19
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Scientific reports, 2019-02, Vol.9 (1), p.1219-1219, Article 1219 [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) 2019 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-018-38007-2 ;PMID: 30718709

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20
Three-Dimensional Rotational Angiography during Catheterization of Congenital Heart Disease - A ten Years' experience at a single center
Three-Dimensional Rotational Angiography during Catheterization of Congenital Heart Disease - A ten Years' experience at a single center
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Three-Dimensional Rotational Angiography during Catheterization of Congenital Heart Disease - A ten Years' experience at a single center

Scientific reports, 2020-04, Vol.10 (1), p.6973-6973, Article 6973 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-020-63903-x ;PMID: 32332807

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