Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and n...
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
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Author / Creator
Lahrouchi, Najim , Postma, Alex V. , Salazar, Christian M. , De Laughter, Daniel M. , Tjong, Fleur , Piherová, Lenka , Bowling, Forrest Z. , Zimmerman, Dominic , Lodder, Elisabeth M. , Ta-Shma, Asaf , Perles, Zeev , Beekman, Leander , Ilgun, Aho , Gunst, Quinn , Hababa, Mariam , Škorić-Milosavljević, Doris , Stránecký, Viktor , Tomek, Viktor , de Knijff, Peter , de Leeuw, Rick , Robinson, Jamille Y. , Burn, Sabrina C. , Mustafa, Hiba , Ambrose, Matthew , Moss, Timothy , Jacober, Jennifer , Niyazov, Dmitriy M. , Wolf, Barry , Kim, Katherine H. , Cherny, Sara , Rousounides, Andreas , Aristidou-Kallika, Aphrodite , Tanteles, George , Ange-Line, Bruel , Denommé-Pichon, Anne-Sophie , Francannet, Christine , Ortiz, Damara , Haak, Monique C. , Harkel, Arend D. J. Ten , Manten, Gwendolyn T.R. , Dutman, Annemiek C. , Bouman, Katelijne , Magliozzi, Monia , Radio, Francesca Clementina , Santen, Gijs W.E. , Herkert, Johanna C. , Brown, H. Alex , Elpeleg, Orly , van den Hoff, Maurice J.B. , Mulder, Barbara , Airola, Michael V. , Kmoch, Stanislav , Barnett, Joey V. , Clur, Sally-Ann , Frohman, Michael A. and Bezzina, Connie R.
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients from 21 unrelated families of different ancestries with biallelic phospholipase D1 (PLD1) variants...
Alternative Titles
Full title
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
Authors, Artists and Contributors
Author / Creator
Postma, Alex V.
Salazar, Christian M.
De Laughter, Daniel M.
Tjong, Fleur
Piherová, Lenka
Bowling, Forrest Z.
Zimmerman, Dominic
Lodder, Elisabeth M.
Ta-Shma, Asaf
Perles, Zeev
Beekman, Leander
Ilgun, Aho
Gunst, Quinn
Hababa, Mariam
Škorić-Milosavljević, Doris
Stránecký, Viktor
Tomek, Viktor
de Knijff, Peter
de Leeuw, Rick
Robinson, Jamille Y.
Burn, Sabrina C.
Mustafa, Hiba
Ambrose, Matthew
Moss, Timothy
Jacober, Jennifer
Niyazov, Dmitriy M.
Wolf, Barry
Kim, Katherine H.
Cherny, Sara
Rousounides, Andreas
Aristidou-Kallika, Aphrodite
Tanteles, George
Ange-Line, Bruel
Denommé-Pichon, Anne-Sophie
Francannet, Christine
Ortiz, Damara
Haak, Monique C.
Harkel, Arend D. J. Ten
Manten, Gwendolyn T.R.
Dutman, Annemiek C.
Bouman, Katelijne
Magliozzi, Monia
Radio, Francesca Clementina
Santen, Gijs W.E.
Herkert, Johanna C.
Brown, H. Alex
Elpeleg, Orly
van den Hoff, Maurice J.B.
Mulder, Barbara
Airola, Michael V.
Kmoch, Stanislav
Barnett, Joey V.
Clur, Sally-Ann
Frohman, Michael A.
Bezzina, Connie R.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7919725
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7919725
Other Identifiers
ISSN
0021-9738,1558-8238
E-ISSN
1558-8238
DOI
10.1172/JCI142148
