Gaby Schobers

Radboud University Nijmegen — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

6h-index232citations9works21.02yr avg
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Research Topics

Genomics and Rare Diseases(6), Genomic variations and chromosomal abnormalities(4), Cancer Genomics and Diagnostics(4), Genetics and Neurodevelopmental Disorders(2), Autism Spectrum Disorder Research(1)

Publications9 total

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
European Journal of Human Genetics·2024· 7 citedOpen Access
Genome sequencing as a generic diagnostic strategy for rare disease
Genome Medicine·2024· 35 citedOpen Access
Genome sequencing as a generic diagnostic strategy for rare disease
2023· 3 citedOpen Access
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
European Journal of Human Genetics·2022· 87 citedOpen Access
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
Genome Medicine·2022· 53 citedOpen Access
Additional file 1 of Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
Figshare·2022Open Access
Liquid biopsy: state of reproductive medicine and beyond
Human Reproduction·2021· 18 citedOpen Access
Table of Contents, Volume 152A, Number 9, September 2010
American Journal of Medical Genetics Part A·2010Open Access
Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature
American Journal of Medical Genetics Part A·2010· 29 cited

Frequent Co-authors

Han G. Brunner(6), Helger G. Yntema(6), Lisenka E.L.M. Vissers(6), Jordi Corominas Galbany(5), Tjitske Kleefstra(5), Ronny Derks(5), Nicole de Leeuw(5), Christian Gilissen(5), Marcel Nelen(5), Erik‐Jan Kamsteeg(5), Jeroen van Reeuwijk(4), Arthur van den Wijngaard(4), Tom Hofste(4), Hilde Swinkels(3), Amber den Ouden(3), Rolph Pfundt(3), Alexander P.A. Stegmann(3), Maartje Pennings(3), Aimée Paulussen(3), Michael Kwint(2)