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Developmental Phenotyping: Results, Challenges and Lessons Learned in Natural History Studies of Genetic Conditions Affecting Neurodevelopment

April 12, 2023 from 2:00 pm to 2:50 pm

Chairs: Audrey Thurm, National Institute of Mental Health & Cristan Farmer, National Institute of Mental Health

Discussant: Greta Wilkening

Papers:

  • Longitudinal Trajectory of Adaptive and Behavioral Outcomes in Phelan McDermid Syndrome: Siddharth Srivastava, Boston Children’s Hospital; Kristina Johnson, Boston Children’s Hospital; Tess Levy, Mount Sinai; Cristan Farmer, National Institute of Mental Health; Audrey Thurm National Institute of Mental Health, Latha Soorya , Rajna Filip-Dhima , Joseph D. Buxbaum, Elizabeth Berry-Kravis, Jon A. Bernstein , Mustafa Sahin, Alexander Kolevzon, on behalf of the Developmental Synaptopathies Consortium 
  • Developmental phenotyping from natural history study of creatine transport deficiency: Judith Miller, Children’s Hospital of Philadelphia; Audrey Thurm, National Institute of Mental Health; Cristan Farmer, National Institute of Mental Health
  • Time is a privileged variable: The quantitative analysis of natural history data on developmental phenotypes : Cristan Farmer, National Institute of Mental Health