Saturation genome editing maps the functional spectrum of pathogenic VHL alleles

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Saturation genome editing maps the functional spectrum of pathogenic VHL alleles ; volume:56 ; number:7 ; day:5 ; month:7 ; year:2024 ; pages:1446-1455 ; date:7.2024
Nature genetics ; 56, Heft 7 (5.7.2024), 1446-1455, 7.2024

Creator: Buckley, Megan
Terwagne, Chloé
Ganner, Athina
Cubitt, Laura
Brewer, Reid
Kim, Dong-Kyu
Kajba, Christina M.
Forrester, Nicole
Dace, Phoebe
Jonghe, Joachim De
Shepherd, Scott T. C.
Sawyer, Chelsea
McEwen, Mairead
Diederichs, Sven
Neumann-Haefelin, Elke
Turajlic, Samra
Ivakine, Evgueni A.
Findlay, Gregory M.

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41588-024-01800-z

URN: urn:nbn:de:101:1-2410012117145.581902739179

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:27 AM CEST

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Associated

Buckley, Megan
Terwagne, Chloé
Ganner, Athina
Cubitt, Laura
Brewer, Reid
Kim, Dong-Kyu
Kajba, Christina M.
Forrester, Nicole
Dace, Phoebe
Jonghe, Joachim De
Shepherd, Scott T. C.
Sawyer, Chelsea
McEwen, Mairead
Diederichs, Sven
Neumann-Haefelin, Elke
Turajlic, Samra
Ivakine, Evgueni A.
Findlay, Gregory M.
SpringerLink (Online service)

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Saturation genome editing maps the functional spectrum of pathogenic VHL alleles

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Gene editing the phytoene desaturase alleles of Cavendish banana using CRISPR/Cas9

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Saturation genome editing of BAP1 functionally classifies somatic and germline variants

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Metastatic Pheochromocytoma Diagnosed with 131I-MIBG SPECT/CT Imaging in a Patient with Pathogenic VHL Mutation

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Saturation genome editing maps the functional spectrum of pathogenic VHL alleles

Removal of alleles by genome editing (RAGE) against deleterious load

Reducing uncertainty in genetic testing with Saturation Genome Editing

Gene editing the phytoene desaturase alleles of Cavendish banana using CRISPR/Cas9

Identification of 3 novel VHL germ-line mutations in Danish VHL patients

Saturation genome editing of BAP1 functionally classifies somatic and germline variants

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Metastatic Pheochromocytoma Diagnosed with 131I-MIBG SPECT/CT Imaging in a Patient with Pathogenic VHL Mutation

CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction

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Saturation genome editing maps the functional spectrum of pathogenic VHL alleles

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Other Objects (12)

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles

Removal of alleles by genome editing (RAGE) against deleterious load

Reducing uncertainty in genetic testing with Saturation Genome Editing

Gene editing the phytoene desaturase alleles of Cavendish banana using CRISPR/Cas9

Identification of 3 novel VHL germ-line mutations in Danish VHL patients

Saturation genome editing of BAP1 functionally classifies somatic and germline variants

Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

Metastatic Pheochromocytoma Diagnosed with 131I-MIBG SPECT/CT Imaging in a Patient with Pathogenic VHL Mutation

CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction

Von Hippel-Lindau-Syndrom (VHL)

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles

Removal of alleles by genome editing (RAGE) against deleterious load

Reducing uncertainty in genetic testing with Saturation Genome Editing

Gene editing the phytoene desaturase alleles of Cavendish banana using CRISPR/Cas9

Identification of 3 novel VHL germ-line mutations in Danish VHL patients

Saturation genome editing of BAP1 functionally classifies somatic and germline variants

Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

Metastatic Pheochromocytoma Diagnosed with 131I-MIBG SPECT/CT Imaging in a Patient with Pathogenic VHL Mutation

CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction

Von Hippel-Lindau-Syndrom (VHL)

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles

Removal of alleles by genome editing (RAGE) against deleterious load

Reducing uncertainty in genetic testing with Saturation Genome Editing

Gene editing the phytoene desaturase alleles of Cavendish banana using CRISPR/Cas9

Identification of 3 novel VHL germ-line mutations in Danish VHL patients

Saturation genome editing of BAP1 functionally classifies somatic and germline variants

Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

Metastatic Pheochromocytoma Diagnosed with 131I-MIBG SPECT/CT Imaging in a Patient with Pathogenic VHL Mutation

CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction

Von Hippel-Lindau-Syndrom (VHL)

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

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