An integrated, scaled approach to resolve TSC2 variants of uncertain significance.
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| Title: | An integrated, scaled approach to resolve TSC2 variants of uncertain significance. |
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| Authors: | Biar CG; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA., Wang ZR; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Camp ND; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA., Holmes DL; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Wheelock MK; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Pendyala S; Department of Genome Sciences, University of Washington, Seattle, WA, USA., McGee AV; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Gupta P; Department of Genome Sciences, University of Washington, Seattle, WA, USA., McEwen AE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Tejura M; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Richardson ME; Ambry Genetics, Aliso Viejo, CA, USA., Weyandt JD; Ambry Genetics, Aliso Viejo, CA, USA., Coleman T; Ambry Genetics, Aliso Viejo, CA, USA., Rubin AF; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Collaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia., Moore N; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia., Stewart R; The Institute for Experiential AI, Northeastern University, Boston, MA, USA., Zeiberg D; The Institute for Experiential AI, Northeastern University, Boston, MA, USA., Vandi AJ; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Dawson S; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA., Radivojac P; The Institute for Experiential AI, Northeastern University, Boston, MA, USA., Starita LM; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA., James RG; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA. rickerj@u.washington.edu.; Department of Pediatrics and Pharmacology, University of Washington, Seattle, WA, USA. rickerj@u.washington.edu., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA. dfowler@uw.edu.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. dfowler@uw.edu.; Department of Bioengineering, University of Washington, Seattle, WA, USA. dfowler@uw.edu., Calhoun JD; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA. jeffrey.calhoun@northwestern.edu. |
| Source: | Nature communications [Nat Commun] 2026 Jul 09. Date of Electronic Publication: 2026 Jul 09. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Print-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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42425971 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: An integrated, scaled approach to resolve TSC2 variants of uncertain significance. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Biar+CG%22">Biar CG</searchLink>; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Wang+ZR%22">Wang ZR</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Camp+ND%22">Camp ND</searchLink>; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Holmes+DL%22">Holmes DL</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Wheelock+MK%22">Wheelock MK</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Pendyala+S%22">Pendyala S</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22McGee+AV%22">McGee AV</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Gupta+P%22">Gupta P</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22McEwen+AE%22">McEwen AE</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Tejura+M%22">Tejura M</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Richardson+ME%22">Richardson ME</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Weyandt+JD%22">Weyandt JD</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Coleman+T%22">Coleman T</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Rubin+AF%22">Rubin AF</searchLink>; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Collaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Moore+N%22">Moore N</searchLink>; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Stewart+R%22">Stewart R</searchLink>; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zeiberg+D%22">Zeiberg D</searchLink>; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Vandi+AJ%22">Vandi AJ</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Dawson+S%22">Dawson S</searchLink>; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Radivojac+P%22">Radivojac P</searchLink>; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Starita+LM%22">Starita LM</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Carvill+GL%22">Carvill GL</searchLink>; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22James+RG%22">James RG</searchLink>; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA. rickerj@u.washington.edu.; Department of Pediatrics and Pharmacology, University of Washington, Seattle, WA, USA. rickerj@u.washington.edu.<br /><searchLink fieldCode="AU" term="%22Fowler+DM%22">Fowler DM</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA. dfowler@uw.edu.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. dfowler@uw.edu.; Department of Bioengineering, University of Washington, Seattle, WA, USA. dfowler@uw.edu.<br /><searchLink fieldCode="AU" term="%22Calhoun+JD%22">Calhoun JD</searchLink>; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA. jeffrey.calhoun@northwestern.edu. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101528555%22">Nature communications</searchLink> [Nat Commun] 2026 Jul 09. <i>Date of Electronic Publication: </i>2026 Jul 09. – 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="%22Nature+Pub%2E+Group%22">Nature Pub. 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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41467-026-75442-6 Languages: – Code: eng Text: English Titles: – TitleFull: An integrated, scaled approach to resolve TSC2 variants of uncertain significance. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Biar CG – PersonEntity: Name: NameFull: Wang ZR – PersonEntity: Name: NameFull: Camp ND – PersonEntity: Name: NameFull: Holmes DL – PersonEntity: Name: NameFull: Wheelock MK – PersonEntity: Name: NameFull: Pendyala S – PersonEntity: Name: NameFull: McGee AV – PersonEntity: Name: NameFull: Gupta P – PersonEntity: Name: NameFull: McEwen AE – PersonEntity: Name: NameFull: Tejura M – PersonEntity: Name: NameFull: Richardson ME – PersonEntity: Name: NameFull: Weyandt JD – PersonEntity: Name: NameFull: Coleman T – PersonEntity: Name: NameFull: Rubin AF – PersonEntity: Name: NameFull: Moore N – PersonEntity: Name: NameFull: Stewart R – PersonEntity: Name: NameFull: Zeiberg D – PersonEntity: Name: NameFull: Vandi AJ – PersonEntity: Name: NameFull: Dawson S – PersonEntity: Name: NameFull: Radivojac P – PersonEntity: Name: NameFull: Starita LM – PersonEntity: Name: NameFull: Carvill GL – PersonEntity: Name: NameFull: James RG – PersonEntity: Name: NameFull: Fowler DM – PersonEntity: Name: NameFull: Calhoun JD IsPartOfRelationships: – BibEntity: Dates: – D: 09 M: 07 Text: 2026 Jul 09 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 2041-1723 Titles: – TitleFull: Nature communications Type: main |
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