ArticleMolecular genetics & genomic medicine2022
Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.Genome medicine · 2026Trial
- Phenotyping and hierarchical clustering in genetically unresolved DSD identifies distinct multisystem clinical subgroups-a DSDgene study.Journal of the Endocrine Society · 2026Article
- Development of self-phenotyping tools to empower patients and improve diagnostics.EBioMedicine · 2025Article
- Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).Frontiers in neurology · 2025Article
- Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.Orphanet journal of rare diseases · 2024Article
- Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly.HGG advances · 2023Article
- Article
- Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.Molecular genetics & genomic medicine · 2022Article
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurodevelopmental disorders, a group of early-onset neurological disorders with significant clinical and genetic heterogeneity, remain a diagnostic challenge for clinical genetic evaluation. Therefore, we assessed the diagnostic yield by combining standard phenotypes and whole-exome sequencing in families with these disorders that were "not yet diagnosed" by the traditional testing methods.
methodsUsing a standardized vocabulary of phenotypic abnormalities from human phenotype ontology (HPO), we performed deep phenotyping for 45 "not yet diagnosed" pedigrees to characterize multiple clinical features extracted from Chinese electronic medical records (EMRs). By matching HPO terms with known human diseases and phenotypes from model organisms, together with whole-exome sequencing data, we prioritized candidate mutations/genes. We made probable genetic diagnoses for the families.
resultsWe obtained a diagnostic yield of 29% (13 out of 45) with probably genetic diagnosis, of which compound heterozygosity and de novo mutations accounted for 77% (10/13) of the diagnosis. Of note, these pedigrees are accompanied by a more significant number of non-neurological features.
conclusionsDeep phenotyping and whole-exome sequencing improve the etiological evaluation for neurodevelopmental disorders in the clinical setting.
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