Marjolijn C.J. Jongmans

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

This study identifies biallelic germline variants in MCM8 and MCM9 as linked to polyposis, gastric cancer, early-onset colorectal cancer, and hypogonadism, with MCM9 variants showing stronger associations.

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

Pathogenic Neurofibromatosis type 1 (NF1) RNA-splicing resolved by targeted RNAseq

This paper develops a targeted RNAseq approach to detect pathogenic RNA splicing variants in NF1, identifying novel splicing events and confirming splice variants in patients with NF1 symptoms.