Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous re...
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
About this item
Full title
Author / Creator
Huth, Emily A. , Zhao, Xiaonan , Owen, Nichole , Luna, Pamela N. , Vogel, Ida , Dorf, Inger L. H. , Joss, Shelagh , Clayton-Smith, Jill , Parker, Michael J. , Louw, Jacoba J. , Gewillig, Marc , Breckpot, Jeroen , Kraus, Alison , Sasaki, Erina , Kini, Usha , Burgess, Trent , Tan, Tiong Y. , Armstrong, Ruth , Neas, Katherine , Ferrero, Giovanni B. , Brusco, Alfredo , Kerstjens-Frederikse, Wihelmina S. , Rankin, Julia , Helvaty, Lindsey R. , Landis, Benjamin J. , Geddes, Gabrielle C. , McBride, Kim L. , Ware, Stephanie M. , Shaw, Chad A. , Lalani, Seema R. , Rosenfeld, Jill A. and Scott, Daryl A.
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes have been identified, the optimal approach to genetic testing in individuals with APVR remains uncertain, and the etiology of most cases of APVR is unclear. Here, we analyzed molecular data from...
Alternative Titles
Full title
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
Authors, Artists and Contributors
Author / Creator
Zhao, Xiaonan
Owen, Nichole
Luna, Pamela N.
Vogel, Ida
Dorf, Inger L. H.
Joss, Shelagh
Clayton-Smith, Jill
Parker, Michael J.
Louw, Jacoba J.
Gewillig, Marc
Breckpot, Jeroen
Kraus, Alison
Sasaki, Erina
Kini, Usha
Burgess, Trent
Tan, Tiong Y.
Armstrong, Ruth
Neas, Katherine
Ferrero, Giovanni B.
Brusco, Alfredo
Kerstjens-Frederikse, Wihelmina S.
Rankin, Julia
Helvaty, Lindsey R.
Landis, Benjamin J.
Geddes, Gabrielle C.
McBride, Kim L.
Ware, Stephanie M.
Shaw, Chad A.
Lalani, Seema R.
Rosenfeld, Jill A.
Scott, Daryl A.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2900969645
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2900969645
Other Identifiers
ISSN
1018-4813,1476-5438
E-ISSN
1476-5438
DOI
10.1038/s41431-023-01451-4
