Tom E. J. Theunissen

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Tom E. J. Theunissen, Minh Nguyen, Rick Kamps et al. · Frontiers in Genetics · 2018 · 94 citations · Full text

Clinical Symptoms, Genetics, Genetic Epidemiology +20

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells

Auke B.C. Otten, Tom E. J. Theunissen, Josien G. Derhaag et al. · Cell Reports · 2016 · 73 citations · Full text

Biology, Mtdna Bottleneck, Dna Sequencing +12

Multicenter Comparison of Molecular Tumor Boards in The Netherlands: Definition, Composition, Methods, and Targeted Therapy Recommendations

Bart Koopman, Harry J.M. Groen, Marjolijn J. L. Ligtenberg et al. · The Oncologist · 2020 · 45 citations · Full text

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Debby M.E.I. Hellebrekers, Suzanne C.E.H. Sallevelt, Tom E. J. Theunissen et al. · European Journal of Human Genetics · 2017 · 44 citations · Full text

Severe Neuromuscular Phenotype, Medicine, Genetics +10

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

Thuy-Linh Le, Louise Galmiche, J Lévy et al. · Journal of Clinical Investigation · 2021 · 43 citations · Full text

Genetics, Genetic Epidemiology, Gastroenterology +19