Last Posted: Feb 21, 2019
- A semi-automated whole exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji Jianling et al. Cold Spring Harbor molecular case studies 2019 Feb - Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability.
Arican Pinar et al. Journal of pediatric genetics 2019 Mar 8(1) 1-9 - Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing
MC Aspromonte et al, BioRXIV, February 10, 2019 - Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti Erin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Feb - Potential for Digital Behavioral Measurement Tools to Transform the Detection and Diagnosis of Autism Spectrum Disorder
G Dawson et al, JAMA Pediatrics, February 4, 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
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