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Article

Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?

Genes - 15 Jun 2024

Ilic Nikola, Maric Nina, Maver Ales, Armengol Lluis, Kravljanac Ruzica, Cirkovic Jana, Krstic Jovana, Radivojevic Danijela, Cirkovic Sanja, Ostojic Slavica, Krasic Stasa, Paripovic Aleksandra, Vukomanovic Vladislav, Peterlin Borut, Maric Gorica, Sarajlija Adrijan

Abstract excerpt

This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, yielding a diagnosis in 66% of cases. Notably, RP played a significant role in cases with negative prior genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38927725
DOI: 10.3390/genes15060789
PMCID: PMC11203244

Provenance

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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