Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.
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| Title: | Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing. |
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| Authors: | Merico D; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Vevo Therapeutics, South San Francisco, CA, USA., Sharfe N; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada., Dadi H; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada., Thiruvahindrapuram B; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., de Rijke J; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Dahi Z; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Zarrei M; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Al Ghamdi A; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada., Al Shaqaq A; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada., Vong L; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada., Scherer SW; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON, Canada., Roifman CM; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada. chaim.roifman@sickkids.ca.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada. chaim.roifman@sickkids.ca. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2025 Jan 13; Vol. 10 (1), pp. 2. Date of Electronic Publication: 2025 Jan 13. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39805825 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Merico+D%22">Merico D</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Vevo Therapeutics, South San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Sharfe+N%22">Sharfe N</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Dadi+H%22">Dadi H</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Thiruvahindrapuram+B%22">Thiruvahindrapuram B</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22de+Rijke+J%22">de Rijke J</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Dahi+Z%22">Dahi Z</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Zarrei+M%22">Zarrei M</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Al+Ghamdi+A%22">Al Ghamdi A</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Al+Shaqaq+A%22">Al Shaqaq A</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Vong+L%22">Vong L</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Roifman+CM%22">Roifman CM</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada. chaim.roifman@sickkids.ca.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada. chaim.roifman@sickkids.ca. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2025 Jan 13; Vol. 10 (1), pp. 2. <i>Date of Electronic Publication: </i>2025 Jan 13. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Nature+in+partnership+with+the+Center+of+Excellence+in+Genomic+Medicine+Research+at+King+Abdulaziz+University%22">Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101685193 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2056-7944 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220567944%22">20567944 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Genom Med <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39805825 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41525-024-00453-5 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2 Titles: – TitleFull: Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Merico D – PersonEntity: Name: NameFull: Sharfe N – PersonEntity: Name: NameFull: Dadi H – PersonEntity: Name: NameFull: Thiruvahindrapuram B – PersonEntity: Name: NameFull: de Rijke J – PersonEntity: Name: NameFull: Dahi Z – PersonEntity: Name: NameFull: Zarrei M – PersonEntity: Name: NameFull: Al Ghamdi A – PersonEntity: Name: NameFull: Al Shaqaq A – PersonEntity: Name: NameFull: Vong L – PersonEntity: Name: NameFull: Scherer SW – PersonEntity: Name: NameFull: Roifman CM IsPartOfRelationships: – BibEntity: Dates: – D: 13 M: 01 Text: 2025 Jan 13 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 2056-7944 Numbering: – Type: volume Value: 10 – Type: issue Value: 1 Titles: – TitleFull: NPJ genomic medicine Type: main |
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