Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole-genome and iPSC RNA sequencing of a HLHS family-tri...

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Udgivet i:eLife
Main Authors: Theis, Jeanne L, Vogler, Georg, Missinato, Maria A, Li, Xing, Nielsen, Tanja, Zeng, Xin-Xin I, Martinez-Fernandez, Almudena, Walls, Stanley M, Kervadec, Anaïs, Kezos, James N, Birker, Katja, Evans, Jared M, O'Byrne, Megan M, Fogarty, Zachary C, Terzic, André, Grossfeld, Paul, Ocorr, Karen, Nelson, Timothy J, Olson, Timothy M, Colas, Alexandre R, Bodmer, Rolf
Format: Artigo
Sprog:Inglês
Udgivet: eLife Sciences Publications, Ltd 2020
Fag:
Genetics and Genomics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7581429/
https://ncbi.nlm.nih.gov/pubmed/33006316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.59554
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