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Employment (3)

Radboud University Nijmegen Medical Centre: Nijmegen, NL

2023-06-01 to present | Clinical laboratory specialist in training (Human Genetics)
Employment
Source: Self-asserted source
Gaby Schobers

Radboud University Nijmegen Medical Centre: Nijmegen, Gelderland, NL

2019 to present | PhD candidate (Human Genetics)
Employment
Source: Self-asserted source
Gaby Schobers

Radboud University Nijmegen Medical Centre: Nijmegen, Gelderland, NL

2004 to 2017 | (Senior) Technician (Human Genetics)
Employment
Source: Self-asserted source
Gaby Schobers

Education and qualifications (1)

Radboud Universiteit: Nijmegen, Gelderland, NL

2017 to 2019 | Msc (Medical Biology)
Education
Source: Self-asserted source
Gaby Schobers

Works (5)

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

European Journal of Human Genetics
2025-01 | Journal article
DOI: 10.1038/s41431-024-01694-9
Contributors: Gaby Schobers; Maartje Pennings; Juliette de Vries; Michael Kwint; Jeroen van Reeuwijk; Jordi Corominas Galbany; Ronald van Beek; Eveline Kamping; Raoul Timmermans; Erik-Jan Kamsteeg et al.
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Crossref

Genome sequencing as a generic diagnostic strategy for rare disease

Genome Medicine
2024-02-14 | Journal article
DOI: 10.1186/s13073-024-01301-y
Contributors: Gaby Schobers; Ronny Derks; Amber den Ouden; Hilde Swinkels; Jeroen van Reeuwijk; Ermanno Bosgoed; Dorien Lugtenberg; Su Ming Sun; Jordi Corominas Galbany; Marjan Weiss et al.
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Crossref

Genome sequencing as a generic diagnostic strategy for rare disease

2023-09-28 | Preprint
DOI: 10.1101/2023.09.28.23296271
Contributors: Gaby Schobers; Ronny Derks; Amber den Ouden; Hilde Swinkels; Jeroen van Reeuwijk; Ermanno Bosgoed; Dorien Lugtenberg; Su Ming Sun; Jordi Corominas Galbany; Marjan Weiss et al.
Source: check_circle
Crossref

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Genome Medicine
2022-12 | Journal article
DOI: 10.1186/s13073-022-01069-z
Contributors: Gaby Schobers; Jolanda H. Schieving; Helger G. Yntema; Maartje Pennings; Rolph Pfundt; Ronny Derks; Tom Hofste; Ilse de Wijs; Nienke Wieskamp; Simone van den Heuvel et al.
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Crossref

Liquid biopsy: state of reproductive medicine and beyond

Human Reproduction
2021-10-18 | Journal article
DOI: 10.1093/humrep/deab206
Contributors: Gaby Schobers; Rebekka Koeck; Dominique Pellaers; Servi J C Stevens; Merryn V E Macville; Aimée D C Paulussen; Edith Coonen; Arthur van den Wijngaard; Christine de Die-Smulders; Guido de Wert et al.
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