Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Ruwan A WeerakkodyJana VandrovcovaChristina KanonidouMichael MuellerPiyush GampawarYousef IbrahimPenny J NorsworthyJennifer BiggsAbdulshakur AbdullahDavid RossHolly A BlackDavid FergusonNicholas J CheshireHanadi KazkazRodney GrahameNeeti GhaliAnthony VandersteenF Michael PopeTimothy J AitmanPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
Unbiased NGS-based sequencing made new molecular diagnoses outside the expected EDS genotype-phenotype relationship and identified previously undetected clinically actionable variants in aortopathy susceptibility genes. These data may be of value in guiding future clinical pathways for genetic diagnosis in EDS.Genet Med 18 11, 1119-1127.