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Article

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

European journal of human genetics : EJHG - 1 Mar 2026

Volpi Julia, Zhao Xiaonan, Owen Nichole, Evans Tia, Holder-Espinasse Muriel, Lahiri Nayana, Sherlock Eleanor, Poke Gemma, Breckpot Jeroen, Devriendt Koen, Cools Bjorn, Brusco Alfredo, Ferrero Giovanni Battista, Grosso Enrico, Vasudevan Pradeep, Loddo Sara, Novelli Antonio, Digilio Maria Cristina, Engwerda Aafke, Hitzert Marrit, Male Alison, Bownass Lucy, Newbury-Ecob Ruth, Miedzybrodzka Zosia, Armstrong Ruth, Lynch Sally Ann, Houge Gunnar, Xiong Shiyi, Lalani Seema R, Rosenfeld Jill A, Luna Pamela N, Shaw Chad A, Scott Daryl A

Abstract excerpt

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect (CHD). TOF may present in isolation or in conjunction with one or more non-cardiac congenital anomalies or neurodevelopmental disorders (TOF+). Uncertainty regarding the efficacy of various genetic testing strategies, and an incomplete understanding of the genetic causes of TOF+, may lead to hesitancy in recommending genetic testing,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40796658
DOI: 10.1038/s41431-025-01916-8
PMCID: PMC12707158

Genes

DVL3
MED13L
MEIS2
PUF60

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.PMID 40796658Read ↗

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