1. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach;Chitty;Prenat Diagn,2015
2. Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1;Zhen;J Obstet Gynaecol,2015
3. Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis;Pazzaglia;Skeletal Radiol,2014
4. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA;Chitty;Prenat Diagn,2013
5. Growth and development in thanatophoric dysplasia - an update 25 years later;Nikkel;Clin Case Rep,2013