… for 56 American College of Medical Genetics and Genomics–recommended genes, 6.2% (N
… % were referred for the primary diagnosis of autism spectrum disorder. Many patients had a …

… from the unbiased whole exome sequencing (WES) to specific gene panels. Here… clinical
exome sequencing (CES) for genetic diagnosis of PIDs. We used the TruSight One sequencing …

… Individuals with ASDs are increasingly presenting for clinical genetics evaluation, and 10%
have an identifiable genetic condition. Fragile X (MIM 300524) (∼1%–2% of ASD cases), …

… , subsequent whole-exome sequencing allowed a theoretical … of a panel of genes followed
by whole-exome sequencing in … American College of Medical Genetics classification. When …

… , (2) the spectrum of genetic alterations contributing to disease, and (… patients with clinical
whole-exome sequencing analyzed … clinical exome sequencing offered in the Medical Genetics …

… to current American College of Medical Genetics sequence interpretation guidelines. The …
for causal variants across the spectrum of genetically heterogeneous Mendelian disorders. …

… Board of Medical Genetics, medical directors, and genetic … exome sequencing evolves to
characterize more patients with atypical presentations of known genetic diseases, the spectrum …

… our understanding in medical genetics, … 150 genes has been distinguished by means of
WES, and this statistics is quickly growing. In this review, the impacts of WES in medical genetics …

… Next-generation sequencing is important for the diagnosis of HS. This study expands the
clinical and genetic spectrum of HS, … to the American College of Medical Genetics (ACMG) and …

… The present study included proband only sequencing, followed by Sanger sequencing of …
genotype spectrum of each disease group in the present study was similar to the spectrum …