Illja J. Diets

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Illja J. Diets, Esmé Waanders, Marjolijn J. L. Ligtenberg et al. · Clinical Cancer Research · 2018 · 67 citations · Full text

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen et al. · Nature Genetics · 2023 · 67 citations · Full text

Phenotypic Variation, Engineering, Machine-learning Framework +12

<i>TRIM28</i> haploinsufficiency predisposes to Wilms tumor

Illja J. Diets, Juliane Hoyer, Arif B. Ekici et al. · International Journal of Cancer · 2019 · 60 citations · Full text

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

Marco Lezzerini, Marianna Penzo, Marie-Françoise O’Donohue et al. · Nucleic Acids Research · 2019 · 51 citations · Full text

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Illja J. Diets, Roos van der Donk, Kristina Baltrunaite et al. · The American Journal of Human Genetics · 2019 · 47 citations · Full text

Developmental Biology, Mendelian Disorder, Short Stature +9