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Article

Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.

American journal of medical genetics. Part A - 1 Jan 2018

Xiao Bing, Qiu Wenjuan, Ji Xing, Liu Xiaoqing, Huang Zhuo, Liu Huili, Fan Yanjie, Xu Yan, Liu Yu, Yie Hui, Wei Wei, Yan Hui, Gong Zhuwen, Shen Lixiao, Sun Yu

Abstract excerpt

The diagnosis of intellectual disability/developmental delay (ID/DD) benefits from the clinical application of target/exome sequencing. The yield in Mendelian diseases varies from 25% to 68%. The aim of the present study was to identify the genetic causes of 33 ID/DD patients using target/exome sequencing. Recent studies have demonstrated that reanalyzing undiagnosed exomes could yield additional diagnosis....

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PMID: 29159939
DOI: 10.1002/ajmg.a.38542

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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