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Paper Details

Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Mol Genet Genomic Med
5
2022
CDH, Genetic disorders, ZFPM2, ZFPM2 gene, atrial septal defect, cardiac malformations, chromosome 8, congenital diaphragmatic hernia, congenital heart defects, critically ill, familial congenital diaphragmatic hernia
Author NameAffiliation
Andrew FarrellUtah Center for Genetic Discovery, University of Utah
Barry MooreUtah Center for Genetic Discovery, University of Utah
Shawn RynearsonUtah Center for Genetic Discovery, University of Utah
Carson HoltUtah Center for Genetic Discovery, University of Utah
Martin Tristani-FirouziUniversity of Utah School of Medicine
Mark YandellUtah Center for Genetic Discovery, University of Utah
Mark YandellUtah Center for Genetic Discovery, University of Utah
Aaron R QuinlanUtah Center for Genetic Discovery, University of Utah
Aaron R QuinlanUniversity of Utah
John C CareyUniversity of Utah School of Medicine
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Release 1.2