Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes
The most common cyanotic congenital heart disease (CHD) requiring management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of TGA patients develop some form of neurodevelopmental disability (NDD), thought to have a significant genetic component. A “ciliopathy” and link...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Blue, Gillian M. [verfasserIn] |
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E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2022 |
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| Umfang: |
13 |
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| Übergeordnetes Werk: |
Enthalten in: 625: Withdrawn - 2013, AHJ, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:244 ; year:2022 ; pages:1-13 ; extent:13 |
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| DOI / URN: |
10.1016/j.ahj.2021.10.185 |
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ELV05638212X |
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| 520 | |a The most common cyanotic congenital heart disease (CHD) requiring management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of TGA patients develop some form of neurodevelopmental disability (NDD), thought to have a significant genetic component. A “ciliopathy” and links with laterality disorders have been proposed. This first report of whole genome sequencing in TGA, sought to identify clinically relevant variants contributing to heart, brain and laterality defects. | ||
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10.1016/j.ahj.2021.10.185 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001682.pica (DE-627)ELV05638212X (ELSEVIER)S0002-8703(21)00437-3 DE-627 ger DE-627 rakwb eng 610 VZ 570 VZ BIODIV DE-30 fid Blue, Gillian M. verfasserin aut Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes 2022 13 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The most common cyanotic congenital heart disease (CHD) requiring management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of TGA patients develop some form of neurodevelopmental disability (NDD), thought to have a significant genetic component. A “ciliopathy” and links with laterality disorders have been proposed. This first report of whole genome sequencing in TGA, sought to identify clinically relevant variants contributing to heart, brain and laterality defects. Mekel, Mauk oth Das, Debjani oth Troup, Michael oth Rath, Emma oth Ip, Eddie oth Gudkov, Mikhail oth Perumal, Gopinath oth Harvey, Richard P. oth Sholler, Gary F. oth Gecz, Jozef oth Kirk, Edwin P. oth Liu, Jinfen oth Giannoulatou, Eleni oth Hong, Haifa oth Dunwoodie, Sally L. oth Winlaw, David S. oth Enthalten in Elsevier 625: Withdrawn 2013 AHJ Amsterdam [u.a.] (DE-627)ELV011791055 volume:244 year:2022 pages:1-13 extent:13 https://doi.org/10.1016/j.ahj.2021.10.185 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA AR 244 2022 1-13 13 |
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10.1016/j.ahj.2021.10.185 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001682.pica (DE-627)ELV05638212X (ELSEVIER)S0002-8703(21)00437-3 DE-627 ger DE-627 rakwb eng 610 VZ 570 VZ BIODIV DE-30 fid Blue, Gillian M. verfasserin aut Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes 2022 13 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The most common cyanotic congenital heart disease (CHD) requiring management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of TGA patients develop some form of neurodevelopmental disability (NDD), thought to have a significant genetic component. A “ciliopathy” and links with laterality disorders have been proposed. This first report of whole genome sequencing in TGA, sought to identify clinically relevant variants contributing to heart, brain and laterality defects. Mekel, Mauk oth Das, Debjani oth Troup, Michael oth Rath, Emma oth Ip, Eddie oth Gudkov, Mikhail oth Perumal, Gopinath oth Harvey, Richard P. oth Sholler, Gary F. oth Gecz, Jozef oth Kirk, Edwin P. oth Liu, Jinfen oth Giannoulatou, Eleni oth Hong, Haifa oth Dunwoodie, Sally L. oth Winlaw, David S. oth Enthalten in Elsevier 625: Withdrawn 2013 AHJ Amsterdam [u.a.] (DE-627)ELV011791055 volume:244 year:2022 pages:1-13 extent:13 https://doi.org/10.1016/j.ahj.2021.10.185 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA AR 244 2022 1-13 13 |
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10.1016/j.ahj.2021.10.185 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001682.pica (DE-627)ELV05638212X (ELSEVIER)S0002-8703(21)00437-3 DE-627 ger DE-627 rakwb eng 610 VZ 570 VZ BIODIV DE-30 fid Blue, Gillian M. verfasserin aut Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes 2022 13 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The most common cyanotic congenital heart disease (CHD) requiring management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of TGA patients develop some form of neurodevelopmental disability (NDD), thought to have a significant genetic component. A “ciliopathy” and links with laterality disorders have been proposed. This first report of whole genome sequencing in TGA, sought to identify clinically relevant variants contributing to heart, brain and laterality defects. Mekel, Mauk oth Das, Debjani oth Troup, Michael oth Rath, Emma oth Ip, Eddie oth Gudkov, Mikhail oth Perumal, Gopinath oth Harvey, Richard P. oth Sholler, Gary F. oth Gecz, Jozef oth Kirk, Edwin P. oth Liu, Jinfen oth Giannoulatou, Eleni oth Hong, Haifa oth Dunwoodie, Sally L. oth Winlaw, David S. oth Enthalten in Elsevier 625: Withdrawn 2013 AHJ Amsterdam [u.a.] (DE-627)ELV011791055 volume:244 year:2022 pages:1-13 extent:13 https://doi.org/10.1016/j.ahj.2021.10.185 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA AR 244 2022 1-13 13 |
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10.1016/j.ahj.2021.10.185 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001682.pica (DE-627)ELV05638212X (ELSEVIER)S0002-8703(21)00437-3 DE-627 ger DE-627 rakwb eng 610 VZ 570 VZ BIODIV DE-30 fid Blue, Gillian M. verfasserin aut Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes 2022 13 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The most common cyanotic congenital heart disease (CHD) requiring management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of TGA patients develop some form of neurodevelopmental disability (NDD), thought to have a significant genetic component. A “ciliopathy” and links with laterality disorders have been proposed. This first report of whole genome sequencing in TGA, sought to identify clinically relevant variants contributing to heart, brain and laterality defects. Mekel, Mauk oth Das, Debjani oth Troup, Michael oth Rath, Emma oth Ip, Eddie oth Gudkov, Mikhail oth Perumal, Gopinath oth Harvey, Richard P. oth Sholler, Gary F. oth Gecz, Jozef oth Kirk, Edwin P. oth Liu, Jinfen oth Giannoulatou, Eleni oth Hong, Haifa oth Dunwoodie, Sally L. oth Winlaw, David S. oth Enthalten in Elsevier 625: Withdrawn 2013 AHJ Amsterdam [u.a.] (DE-627)ELV011791055 volume:244 year:2022 pages:1-13 extent:13 https://doi.org/10.1016/j.ahj.2021.10.185 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA AR 244 2022 1-13 13 |
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Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes |
| abstract |
The most common cyanotic congenital heart disease (CHD) requiring management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of TGA patients develop some form of neurodevelopmental disability (NDD), thought to have a significant genetic component. A “ciliopathy” and links with laterality disorders have been proposed. This first report of whole genome sequencing in TGA, sought to identify clinically relevant variants contributing to heart, brain and laterality defects. |
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The most common cyanotic congenital heart disease (CHD) requiring management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of TGA patients develop some form of neurodevelopmental disability (NDD), thought to have a significant genetic component. A “ciliopathy” and links with laterality disorders have been proposed. This first report of whole genome sequencing in TGA, sought to identify clinically relevant variants contributing to heart, brain and laterality defects. |
| abstract_unstemmed |
The most common cyanotic congenital heart disease (CHD) requiring management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of TGA patients develop some form of neurodevelopmental disability (NDD), thought to have a significant genetic component. A “ciliopathy” and links with laterality disorders have been proposed. This first report of whole genome sequencing in TGA, sought to identify clinically relevant variants contributing to heart, brain and laterality defects. |
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| title_short |
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes |
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https://doi.org/10.1016/j.ahj.2021.10.185 |
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Mekel, Mauk Das, Debjani Troup, Michael Rath, Emma Ip, Eddie Gudkov, Mikhail Perumal, Gopinath Harvey, Richard P. Sholler, Gary F. Gecz, Jozef Kirk, Edwin P. Liu, Jinfen Giannoulatou, Eleni Hong, Haifa Dunwoodie, Sally L. Winlaw, David S. |
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Mekel, Mauk Das, Debjani Troup, Michael Rath, Emma Ip, Eddie Gudkov, Mikhail Perumal, Gopinath Harvey, Richard P. Sholler, Gary F. Gecz, Jozef Kirk, Edwin P. Liu, Jinfen Giannoulatou, Eleni Hong, Haifa Dunwoodie, Sally L. Winlaw, David S. |
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10.1016/j.ahj.2021.10.185 |
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2024-07-06T20:13:12.612Z |
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