Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left h...
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome
About this item
Full title
Author / Creator
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 and Bodmer, Rolf
Publisher
England: eLife Science Publications, Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: eLife Science Publications, Ltd
Subjects
More information
Scope and Contents
Contents
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-trio. Filtering for rare variants and altered express...
Alternative Titles
Full title
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_7b02a3ed48a047c4bd8549ffe623c1c1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7b02a3ed48a047c4bd8549ffe623c1c1
Other Identifiers
ISSN
2050-084X
E-ISSN
2050-084X
DOI
10.7554/eLife.59554
