Last Posted: Jan 31, 2019
- Why genetic tests matter for autistic people
J Wright, Spectrum, January 2019 - Genetic and environmental influences on structural brain measures in twins with autism spectrum disorder.
Hegarty John P et al. Molecular psychiatry 2019 Jan - MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
Capkova Pavlina et al. PeerJ 2019 6e6183 - 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 - Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
Han Ji Yoon et al. Frontiers in pediatrics 2018 6391 - Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions.
Wofford Sara et al. Journal of child neurology 2019 Jan 883073818821036 - Big data approaches to decomposing heterogeneity across the autism spectrum.
Lombardo Michael V et al. Molecular psychiatry 2019 Jan - Diagnostic Yield of Intellectual Disability Gene Panels.
Pekeles Heather et al. Pediatric neurology 2018 Nov - Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective.
Lee Anna W et al. Brain sciences 2018 Dec 8(12) - A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots.
Tan Vivienne J et al. Frontiers in genetics 2018 9582
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