I. Diets

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

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition

I. Nagtegaal, E. Waanders, M. Jongmans, 2016, British Journal of Cancer.

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

L. Montanaro, M. Wlodarski, R. Kuiper, 2019, Nucleic acids research.

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia

R. Pfundt, R. Kuiper, M. Jongmans, 2018, Haematologica.

Clinical features of patients with nodal marginal zone lymphoma compared to follicular lymphoma: similar presentation, but differences in prognostic factors and rate of transformation

W. Stevens, K. Hebeda, P. Groenen, 2016, Leukemia & lymphoma.

TRIM28 haploinsufficiency predisposes to Wilms tumor

M. Gessler, A. Ekici, R. Kuiper, 2019, International journal of cancer.

TRIM28 variants and Wilms' tumour predisposition

R. Kuiper, M. Jongmans, R. D. de Krijger, 2021, The Journal of pathology.

Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger.

I. Nagtegaal, A. Eijkelenboom, M. Ligtenberg, 2020, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

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

A. Wagner, R. Kuiper, M. Ligtenberg, 2018, Clinical Cancer Research.

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus

T. Kleefstra, T. Prescott, M. Jongmans, 2018, Genetics in Medicine.

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

R. Kuiper, A. Gerdes, K. Schmiegelow, 2021, Familial Cancer.

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

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2023, Nature Genetics.