1. Rothmund–Thomson Syndrome
   Hideo Kaneko, 2019, DNA Repair Disorders CrossRef
2. Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms
   Megan Schmit et al, 2021, International Journal of Molecular Sciences CrossRef
3. DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns
   Richa Sharma et al, 2020, Frontiers in Pediatrics CrossRef
4. Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations
   Elisa Adele Colombo et al, 2019, Frontiers in Pediatrics CrossRef
5. Rothmund-Thomson syndrome
   英雄 金子, 2021, Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics CrossRef
6. Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene
   Ji Sook Kim, 2019, Neonatal Medicine CrossRef
7. Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases
   Yu Kanai et al, 2025, American Journal of Medical Genetics Part A CrossRef
8. Rothmund-Thomson syndrome, a disorder far from solved
   Davi Jardim Martins et al, 2023, Frontiers in Aging CrossRef
9. Rothmund‐Thomson syndrome investigated by two nationwide surveys in Japan
   Hideo Kaneko et al, 2022, Pediatrics International CrossRef
10. Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells
    Dongliang Mo et al, 2018, Cancer Letters CrossRef