Cited by

• The mutation spectrum in RECQL4 diseases.

  Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. Siitonen HA, et al. Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716613 Free PMC article.
• Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

  Sznajer Y, Siitonen HA, Roversi G, Dangoisse C, Scaillon M, Ziereisen F, Tenoutasse S, Kestilä M, Larizza L. Sznajer Y, et al. Eur J Pediatr. 2008 Feb;167(2):175-81. doi: 10.1007/s00431-007-0447-6. Epub 2007 Mar 20. Eur J Pediatr. 2008. PMID: 17372760
• Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

  Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A. Van Maldergem L, et al. J Med Genet. 2006 Feb;43(2):148-52. doi: 10.1136/jmg.2005.031781. Epub 2005 Jun 17. J Med Genet. 2006. PMID: 15964893 Free PMC article.
• The Genetic and Physical Interactomes of the Saccharomyces cerevisiae Hrq1 Helicase.

  Rogers CM, Sanders E, Nguyen PA, Smith-Kinnaman W, Mosley AL, Bochman ML. Rogers CM, et al. G3 (Bethesda). 2020 Dec 3;10(12):4347-4357. doi: 10.1534/g3.120.401864. G3 (Bethesda). 2020. PMID: 33115721 Free PMC article.
• The Finnish Disease Heritage III: the individual diseases.

  Norio R. Norio R. Hum Genet. 2003 May;112(5-6):470-526. doi: 10.1007/s00439-002-0877-1. Epub 2003 Mar 8. Hum Genet. 2003. PMID: 12627297 Review.