T. Hofste

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

L. Vissers, R. Pfundt, M. Nelen, 2022, Genome medicine.

Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer

C. Gilissen, M. Weiss, M. Janssen, 2022, Cancers.

BRCA Testing by Single-Molecule Molecular Inversion Probes.

J. Shendure, A. Hoischen, J. Hehir-Kwa, 2017, Clinical chemistry.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

B. Weschke, M. Verbeek, G. Mancini, 2010, Brain : a journal of neurology.

Presence of Genetic Variants Among Young Men With Severe COVID-19.

J. Schuurs-Hoeijmakers, A. Hoischen, M. Jaeger, 2020, JAMA.

Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer.

C. Gilissen, K. Reijnders, M. Weiss, 2023, European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2007, Journal of Medical Genetics.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2007, Journal of Medical Genetics.

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.

F. Cremers, H. Scheffer, N. Knoers, 2009, The Journal of molecular diagnostics : JMD.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2009, BMJ Case Reports.

Early On-treatment Circulating Tumor DNA Measurements and Response to Immune Checkpoint Inhibitors in Advanced Urothelial Cancer.

J. Schalken, A. G. van der Heijden, T. Smilde, 2023, European urology oncology.