Common data elements for arthrogryposis multiplex congenita: An international framework.

Shahrzad Nematollahi Klaus DieterichIsabel FilgesJohanna I P De VriesHarold Van BosseDaniel Natera-De BenitoJudith G HallBonita SawatzkyTanya BedardVictoria Castillo SanchezCarolina Navalon-MartinezTony PanColeman HiltonNoemi Dahan-Oliel

Published in: Developmental medicine and child neurology (2024)

Collection of systematic data on AMC using CDEs will allow investigations on etiological pathways, describe epidemiological profile, and establish genotype-phenotype correlations in a standardized manner. The proposed CDEs will facilitate international multidisciplinary collaborations by improving large-scale studies and opportunities for data sharing, knowledge translation, and dissemination.

Keyphrases

electronic health record
big data
healthcare
social media
high throughput
data analysis
single cell