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Article

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.

BMC medical genomics - 13 May 2020

Issa Mahmoud Y, Chechlacz Zinayida, Stanley Valentina, George Renee D, McEvoy-Venneri Jennifer, Belandres Denice, Elbendary Hasnaa M, Gaber Khaled R, Nabil Ahmed, Abdel-Hamid Mohamed S, Zaki Maha S, Gleeson Joseph G

Abstract excerpt

BACKGROUND: The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, parents could use this information to opt for fetal genotyping in subsequent pregnancies, which could inform decisions about elective termination of pregnancy. The use of NGS diagnostic sequencing...

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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: 32404165
DOI: 10.1186/s12920-020-0714-1
PMCID: PMC7218834

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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