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Article

Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.

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

Nomakuchi Tomoki T, Teferedegn Eden Y, Li Dong, Muirhead Kayla J, Dubbs Holly, Leonard Jacqueline, Muraresku Colleen, Sergio Emily, Arnold Kaley, Pizzino Amy, Skraban Cara M, Zackai Elaine H, Wang Kai, Ganetzky Rebecca D, Vanderver Adeline L, Ahrens-Nicklas Rebecca C, Bhoj Elizabeth J K

Abstract excerpt

Exome sequencing (ES) has emerged as an essential tool in the evaluation of neurodevelopmental disorders (NDD) of unknown etiology. Genome sequencing (GS) offers advantages over ES due to improved detection of structural, copy number, repeat number and non-coding variants. However, GS is less commonly utilized due to higher cost and more intense analysis. Here, we present nine cases of pediatric NDD that were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39031459
DOI: 10.1002/ajmg.a.63817
PMCID: PMC11540733

Genes

BCAP31
CHD3
GJB1
MAPK8IP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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