Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Saved in:
| Title: | Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation. |
|---|---|
| Authors: | Steyaert W; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., Haer-Wigman L; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., Hellebrekers D; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands., Steehouwer M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., Hampstead J; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., de Boer E; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Radboud University, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Netherlands., Stegmann A; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands., Yntema H; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., Brunner H; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands., Hoischen A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.; Radboud University Medical Center, Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Nijmegen, Netherlands., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands. christian.gilissen@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands. christian.gilissen@radboudumc.nl. |
| Source: | Nature communications [Nat Commun] 2023 Oct 27; Vol. 14 (1), pp. 6845. Date of Electronic Publication: 2023 Oct 27. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 37891200 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Steyaert+W%22">Steyaert W</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Haer-Wigman+L%22">Haer-Wigman L</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hellebrekers+D%22">Hellebrekers D</searchLink>; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Steehouwer+M%22">Steehouwer M</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hampstead+J%22">Hampstead J</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Boer+E%22">de Boer E</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Radboud University, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Stegmann+A%22">Stegmann A</searchLink>; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Yntema+H%22">Yntema H</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kamsteeg+EJ%22">Kamsteeg EJ</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brunner+H%22">Brunner H</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoischen+A%22">Hoischen A</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.; Radboud University Medical Center, Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands. christian.gilissen@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands. christian.gilissen@radboudumc.nl. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101528555%22">Nature communications</searchLink> [Nat Commun] 2023 Oct 27; Vol. 14 (1), pp. 6845. <i>Date of Electronic Publication: </i>2023 Oct 27. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101528555 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2041-1723 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220411723%22">20411723 </searchLink><i>NLM ISO Abbreviation: </i>Nat Commun <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37891200 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41467-023-42531-9 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 6845 Titles: – TitleFull: Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Steyaert W – PersonEntity: Name: NameFull: Haer-Wigman L – PersonEntity: Name: NameFull: Pfundt R – PersonEntity: Name: NameFull: Hellebrekers D – PersonEntity: Name: NameFull: Steehouwer M – PersonEntity: Name: NameFull: Hampstead J – PersonEntity: Name: NameFull: de Boer E – PersonEntity: Name: NameFull: Stegmann A – PersonEntity: Name: NameFull: Yntema H – PersonEntity: Name: NameFull: Kamsteeg EJ – PersonEntity: Name: NameFull: Brunner H – PersonEntity: Name: NameFull: Hoischen A – PersonEntity: Name: NameFull: Gilissen C IsPartOfRelationships: – BibEntity: Dates: – D: 27 M: 10 Text: 2023 Oct 27 Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 2041-1723 Numbering: – Type: volume Value: 14 – Type: issue Value: 1 Titles: – TitleFull: Nature communications Type: main |
| ResultId | 1 |