Illja J. Diets
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 17 publications
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
Journal: Nature genetics
Published: September 06, 2022
In Response to: Pediatric Myelodysplastic Syndrome with Germline RRAS Mutation: Expanding the Phenotype of RASopathies.
Journal: Journal of pediatric hematology/oncology
Published: December 22, 2021
TRIM28 variants and Wilms' tumour predisposition.
Journal: The Journal of pathology
Published: December 04, 2020
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel.
Journal: Familial cancer
Published: September 14, 2020
Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger.
Journal: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
Published: June 10, 2020
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Journal: Nucleic acids research
Published: September 24, 2019
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Journal: American journal of human genetics
Published: December 19, 2018
TRIM28 haploinsufficiency predisposes to Wilms tumor.
Journal: International journal of cancer
Published: October 08, 2018
Last Updated: 09/26/2026