Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.003
Abstract: Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene… read more here.
Keywords: diagnostic exome; intellectual disability; mbd5; disability epilepsy ... See more keywords
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2017.01.033
Abstract: BACKGROUND Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large… read more here.
Keywords: exome sequencing; diagnostic exome; autism spectrum; spectrum disorder ... See more keywords
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13657
Abstract: Patients with dystonia are particularly appropriate for diagnostic exome sequencing (DES), due to the complex, diverse features and genetic heterogeneity. Personal and family history data were collected from test requisition forms and medical records from… read more here.
Keywords: exome sequencing; diagnostic exome; sequencing dystonia; clinical diagnostic ... See more keywords