Tom Hofste

Radboud University Nijmegen — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

11h-index1.7kcitations22works7.62yr avg
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Research Topics

Cancer Genomics and Diagnostics(8), Genomics and Rare Diseases(8), Genomic variations and chromosomal abnormalities(7), Mitochondrial Function and Pathology(3), Genetic factors in colorectal cancer(3)

Publications22 total

Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing
Genome Medicine·2026Open Access
Clinical long-read genome sequencing for rare disease diagnostics
2026Open Access
Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands
Scientific Reports·2025· 1 citedOpen Access
Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience
Andrology·2024· 10 citedOpen Access
Genomic instability in non–breast or ovarian malignancies of individuals with germline pathogenic variants in <i>BRCA1/2</i>
JNCI Journal of the National Cancer Institute·2024· 4 citedOpen Access
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
International Journal of Neonatal Screening·2024· 11 citedOpen Access
Innovation in clinical diagnosis of male infertility: Validation study and a 6-month experience using whole exome sequencing
European Urology·2024Open 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
Early On-treatment Circulating Tumor DNA Measurements and Response to Immune Checkpoint Inhibitors in Advanced Urothelial Cancer
European Urology Oncology·2023· 18 citedOpen Access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Human Genomics·2023· 27 citedOpen Access
Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer
European Journal of Surgical Oncology·2023· 22 citedOpen Access
All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience
Prenatal Diagnosis·2023· 11 citedOpen Access
Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer
Cancers·2022· 24 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
Presence of Genetic Variants Among Young Men With Severe COVID-19
JAMA·2020· 822 citedOpen Access
BRCA Testing by Single-Molecule Molecular Inversion Probes
Clinical Chemistry·2016· 63 citedOpen Access
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Brain·2010· 406 citedOpen Access
Design and Validation of a Conformation Sensitive Capillary Electrophoresis-Based Mutation Scanning System and Automated Data Analysis of the More than 15 kbp-Spanning Coding Sequence of the SACS Gene
Journal of Molecular Diagnostics·2009· 8 citedOpen Access
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Frequent Co-authors

Christian Gilissen(8), Marcel Nelen(8), Ronny Derks(8), Marjolijn J. L. Ligtenberg(8), Helger G. Yntema(7), Marjan M. Weiss(7), Lisenka E.L.M. Vissers(6), Jordi Corominas Galbany(5), Han G. Brunner(5), Alexander Hoischen(5), Ermanno Bosgoed(5), Gaby Schobers(4), Rolph Pfundt(4), Simone van den Heuvel(4), Erik‐Jan Kamsteeg(4), Amber den Ouden(4), Nicole de Leeuw(4), Alexander P.A. Stegmann(4), Maartje J. Geerlings(4), Daniel von Rhein(4)