The 2017 international classification of the Ehlers–Danlos syndromesFransiska Malfait, Brad T. Tinkle, Clair A. Francomano et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2017Cited by 1.9k
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C. Lionel, Peter N. Ray, Gregory Costain et al.|Genetics in Medicine|2017Cited by 563
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicineDimitri J. Stavropoulos, Cheryl Shuman, Daniele Merico et al.|npj Genomic Medicine|2016Cited by 377
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue DisordersMasahiro Nakajima, Shiro Ikegawa, Angeline Lai et al.|The American Journal of Human Genetics|2013Cited by 138
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 MutationsMaha Faden, Fowzan S. Alkuraya, Fatema Alzahrani et al.|The American Journal of Human Genetics|2015Cited by 18