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Research Priorities of Individuals and Families with Sex Chromosome Aneuploidies.

Alexandra E CarlSamantha BothwellFathia FarahKarli S SwensonDavid HongSiddharth K PrakashJohn StrangNicole R TartagliaArmin RaznahanJudith L Rossnull nullnull nullShanlee M Davis
Published in: medRxiv : the preprint server for health sciences (2024)
The data that support the findings of this study are available on request from the corresponding author. This study was funded by the Turner Syndrome Global Alliance, Association for X and Y Chromosome Variations, Living with XXY, the XXYY Project, and the University of Colorado School of Medicine Department of Pediatrics. Data collection and storage was supported by NIH/NCATS Colorado CTSA Grant Number UM1 TR004399. The authors do not have any conflicts of interest to disclose. This study was reviewed and approved by the Colorado Multiple Institutional Review Board (COMIRB # 20-0482 and # 19-3027). All participants provided informed consent for participation - participants under 18 years old provided assent along with parental informed consent prior to any study procedures. Contents are the authors' sole responsibility and do not necessarily represent official NIH views.
Keyphrases
  • gene expression
  • electronic health record
  • dna methylation
  • deep learning
  • tertiary care
  • data analysis