Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature.
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| Title: | Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature. |
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| Authors: | van der Laan L; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Haagmans MA; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Venema A; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Kerkhof J; London Health Science Centre, Verspeeten Clinical Genome Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Levy MA; London Health Science Centre, Verspeeten Clinical Genome Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Briuglia S; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy., Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Sailer S; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Sadikovic B; London Health Science Centre, Verspeeten Clinical Genome Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., van Haelst MM; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., van Gijn M; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Alders M; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Henneman P; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands. |
| Source: | Frontiers in genetics [Front Genet] 2026 Jan 05; Vol. 16, pp. 1730165. Date of Electronic Publication: 2026 Jan 05 (Print Publication: 2025). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2025.1730165 |
