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Article

Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.

American journal of medical genetics. Part A - 1 Sept 2024

Arlt Annabelle, Knaus Alexej, Hsieh Tzung-Chien, Klinkhammer Hannah, Bhasin Meghna Ahuja, Hustinx Alexander, Moosa Shahida, Krawitz Peter, Ekure Ekanem

Abstract excerpt

Next-generation phenotyping (NGP) can be used to compute the similarity of dysmorphic patients to known syndromic diseases. So far, the technology has been evaluated in variant prioritization and classification, providing evidence for pathogenicity if the phenotype matched with other patients with a confirmed molecular diagnosis. In a Nigerian cohort of individuals with facial dysmorphism, we used the NGP tool...

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Identifiers

PMID: 38725242
DOI: 10.1002/ajmg.a.63641

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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