Wilson, Louise C.

Top Publications

Top Publications Authored or Co-Authored by "Wilson, Louise C."

• Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

  Science, Volume 319, No. 5864, Year 2008, Citations 382
• Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

  American Journal of Human Genetics, Volume 99, No. 1, Year 2016, Citations 93
• A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

  American Journal of Medical Genetics, Part A, Volume 167, No. 3, Year 2015, Citations 70
• Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

  Journal of molecular endocrinology, Volume 49, No. 3, Year 2012, Citations 47
• Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy

  American Journal of Human Genetics, Volume 93, No. 5, Year 2013, Citations 34