Tom Hofste

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

Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers et al. · JAMA · 2020 · 832 citations · Full text

Life Sciences, Genetics, Immunology +13

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

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A novel mitochondrial <i>ATP8</i> gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

An I. Jonckheere, Marije Hogeveen, Leo Nijtmans et al. · Journal of Medical Genetics · 2007 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

BRCA Testing by Single-Molecule Molecular Inversion Probes

Kornelia Neveling, Arjen R. Mensenkamp, Ronny Derks et al. · Clinical Chemistry · 2016 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Gaby Schobers, Jolanda Schieving, Helger G. Yntema et al. · Genome Medicine · 2022 · 59 citations · Full text

Life Sciences, Genetics, Neurology +17