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
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to <i>TGFBR1</i> or <i>TGFBR2</i> mutationsVan Tran‐Fadulu, Dianna M. Milewicz, Marcia Willing et al.|Journal of Medical Genetics|2009Cited by 187
The international consortium on the Ehlers–Danlos syndromesLara Bloom, Fransiska Malfait, Peter H. Byers et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2017Cited by 116
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian conditionMitchell R. Vollger, Andrew B. Stergachis, Jonas Korlach et al.|Nature Genetics|2025Cited by 34
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian conditionMitchell R. Vollger, Andrew B. Stergachis, Jonas Korlach et al.|bioRxiv (Cold Spring Harbor Laboratory)|2023Cited by 7