Ontology highlight
ABSTRACT:
SUBMITTER: Gieldon L
PROVIDER: S-EPMC6084857 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Gieldon Laura L Mackenroth Luisa L Kahlert Anne-Karin AK Lemke Johannes R JR Porrmann Joseph J Schallner Jens J von der Hagen Maja M Markus Susanne S Weidensee Sabine S Novotna Barbara B Soerensen Charlotte C Klink Barbara B Wagner Johannes J Tzschach Andreas A Jahn Arne A Kuhlee Franziska F Hackmann Karl K Schrock Evelin E Di Donato Nataliya N Rump Andreas A
PloS one 20180809 8
Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial exome, enriched for genes associated with Mendelian disorders, might be a valid alternative approach that yields similar detection rates but requires less sequencing capacities. Within this context 106 patients with different intellectual disabi ...[more]