Last Posted: Jan 30, 2019
- The possible implications of advances in genetic testing technologies for Genetic Counsellors working with families of children with developmental disorders.
Joseph Flora M et al. F1000Research 2018 7420 - Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.
Jang Woori et al. Annals of laboratory medicine 2019 May 39(3) 299-310 - For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome.
Plachý Luká? et al. Pediatric endocrinology reviews : PER 2018 Sep 16(1) 171-177 - Solving the mysteries of developmental disorders: The DDD study
A Cranage, Sanger Institute, October 16, 2018 - Milestone reached in major developmental disorders project
Sanger Institute, October 2018 - Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders.
Tremblay Isabelle et al. Journal of autism and developmental disorders 2018 Oct - Wellcome Sanger Institute at 25: how the genomic revolution is changing medicine
Wellcome Sanger, September 2018 - Solving the genome puzzle: With advances in gene technology helping to diagnose very rare diseases, has the new era of personalised medicine finally arrived?
L Geddes, The Guardian, September 21, 2018 - Searching for a diagnosis: how scientists are untangling the mystery of developmental disorders
L Geddes, Mosaic, September 18, 2018 - Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder.
Rutz Audrey et al. Journal of autism and developmental disorders 2018 Sep
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