Nienke van Engelen

Jan 31, 2025 | digitalcommons.library.tmc.edu | Leora Witkowski |Kim Nichols |Marjolijn C.J. Jongmans |Nienke van Engelen

Keywords Female, Humans, Infant, Male, Biomarkers, Tumor, Carcinoma, Small Cell, DNA Helicases, Germ-Line Mutation, Neuroblastoma, Nuclear Proteins, Transcription Factors, Child, Preschool, Child, Adolescent, Young Adult, Adult, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Pediatrics, Sequence Analysis, DNA Abstract Heterozygous germline pathogenic variants (GPVs) in SMARCA4, the gene encoding the ATP-dependent chromatin remodeling protein SMARCA4 (previously known...

Sep 21, 2023 | jmg.bmj.com | Leora Witkowski |Kim Nichols |Marjolijn C.J. Jongmans |Nienke van Engelen

Twitter @splonLW and KEN contributed equally. Contributors LW and KN contributed equally to this paper. LW, KN, SP and WDF designed the study and contributed to manuscript preparation and editing. MJ, LT, NvE, JH-M, HM, ALD and MJA provided study patients. RRdK, AB, TR, MH performed pathology review on the cases. All authors critically reviewed and approved the final manuscript.