Associated Papers
Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies SMARCAL1 as a Novel Osteosarcoma Predisposition Gene.
Oak N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2025
Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.
Oak N et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia.
Power BD et al.
American Journal of Medical Genetics. Part A, 2019
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
31275356 (PubMed )
Supplement: Data_Sheet_1.PDF
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Lipska-Ziętkiewicz BS et al.
Plos One, 2017
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.
Barraza-García J et al.
European Journal of Medical Genetics, 2016
A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia.
Carroll C et al.
American Journal of Medical Genetics. Part A, 2015
Select a paper to view details