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Last Posted: Sep 16, 2022

• The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
  B va der Sanden et al, EJHG, September 15, 2022
• Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
  Lindstrand Anna et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
• Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
  Krepischi Ana C V et al. Scientific reports 2022 12(1) 15184
• Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.
  Bin Sawad Aseel et al. Molecular genetics and metabolism 2022 137(1-2) 153-163
• Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.
  Dy Angel Belle C et al. Journal of autism and developmental disorders 2022
• The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing.
  Zhang Wen et al. Frontiers in pediatrics 2022 10911805
• Use of Oculomotor Behavior to Classify Children with Autism and Typical Development: A Novel Implementation of the Machine Learning Approach.
  Zhao Zhong et al. Journal of autism and developmental disorders 2022
• Genetic Testing on Patients with Developmental Delay: A Preliminary Study from the Perspective of Physicians.
  Bang Gwanwook et al. Healthcare (Basel, Switzerland) 2022 10(7)
• Fragile X syndrome: Learning what families need, one person at a time.
  CDC, July 2022
• Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at Diagnosis
  SS Kuo et al, JAMA Pediatrics, July 18, 2022

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