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Publications by Chris Thornborough

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

American Journal of Human Genetics
Genetics
2014English

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Rare Copy Number Variants Analysis Identifies Novel Candidate Genes in Heterotaxy Syndrome Patients With Congenital Heart Defects

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Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability

European Journal of Human Genetics
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2018English

EP06.02: The Landscape of Pathogenic Copy Number Variants in Fetuses With Congenital Heart Defects

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Copy Number Variation in Congenital Heart Defects

Current Genetic Medicine Reports
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Recurrence of Congenital Heart Defects in Families

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Vulnerability of the Developing Heart to Oxygen Deprivation as a Cause of Congenital Heart Defects

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MESP1 Mutations in Patients With Congenital Heart Defects

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Extracardiac Defects in Children With Congenital Heart Disease.

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Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

American Journal of Human Genetics
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