Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls....

Full description

Saved in:
Bibliographic Details
Published in:Nature communications Vol. 8; no. 1; pp. 15481 - 10
Main Authors: Yang, Bo, Zhou, Wei, Jiao, Jiao, Nielsen, Jonas B., Mathis, Michael R., Heydarpour, Mahyar, Lettre, Guillaume, Folkersen, Lasse, Prakash, Siddharth, Schurmann, Claudia, Fritsche, Lars, Farnum, Gregory A., Lin, Maoxuan, Othman, Mohammad, Hornsby, Whitney, Driscoll, Anisa, Levasseur, Alexandra, Thomas, Marc, Farhat, Linda, Dubé, Marie-Pierre, Isselbacher, Eric M., Franco-Cereceda, Anders, Guo, Dong-chuan, Bottinger, Erwin P., Deeb, G. Michael, Booher, Anna, Kheterpal, Sachin, Chen, Y. Eugene, Kang, Hyun Min, Kitzman, Jacob, Cordell, Heather J., Keavney, Bernard D., Goodship, Judith A., Ganesh, Santhi K., Abecasis, Gonçalo, Eagle, Kim A., Boyle, Alan P., Loos, Ruth J. F., Eriksson, Per, Tardif, Jean-Claude, Brummett, Chad M., Milewicz, Dianna M., Body, Simon C., Willer, Cristen J.
Format: Journal Article
Language:English
Published: London Nature Publishing Group UK 25.05.2017
Nature Publishing Group
Nature Portfolio
Subjects:
13
13/89
14
45
45/43
631/208/205/2138
631/208/4041/3196
692/4019/592/2727
692/699/75/1539
82/80
Amino Acid Substitution
Anesthesiology
Aortic Valve - abnormalities
Aortic Valve - embryology
Aortic Valve - metabolism
Bicuspid Aortic Valve Disease
Case-Control Studies
Cell Transdifferentiation - genetics
CRISPR
CRISPR-Cas Systems
Female
GATA4 Transcription Factor - deficiency
GATA4 Transcription Factor - genetics
GATA4 Transcription Factor - metabolism
Gene Regulatory Networks
Genetic variance
Genetic Variation
Genome-Wide Association Study
Genomes
Heart
Heart Defects, Congenital - genetics
Heart Valve Diseases - embryology
Heart Valve Diseases - genetics
Heart Valve Diseases - metabolism
Hospitals
Humanities and Social Sciences
Humans
Induced Pluripotent Stem Cells - metabolism
Induced Pluripotent Stem Cells - pathology
Internal medicine
Male
Medicine
multidisciplinary
Mutation, Missense
Phenotype
Proteins
Risk factors
RNA, Untranslated - genetics
Science
Science (multidisciplinary)
Stem cells
Surgery
Transcription factors
New York
Canada
Sweden
United Kingdom > UK
United States > US
Quebec Canada
Montreal Quebec Canada
Ann Arbor Michigan
Michigan
ISSN:2041-1723, 2041-1723
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Abstract Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4 . GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development. Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.
AbstractList Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4 . GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development. Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4 . GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development.
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development. Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development.
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development.Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development.
ArticleNumber 15481
Author Levasseur, Alexandra
Brummett, Chad M.
Folkersen, Lasse
Abecasis, Gonçalo
Tardif, Jean-Claude
Booher, Anna
Kheterpal, Sachin
Othman, Mohammad
Hornsby, Whitney
Milewicz, Dianna M.
Eriksson, Per
Boyle, Alan P.
Fritsche, Lars
Willer, Cristen J.
Thomas, Marc
Nielsen, Jonas B.
Schurmann, Claudia
Deeb, G. Michael
Driscoll, Anisa
Franco-Cereceda, Anders
Loos, Ruth J. F.
Jiao, Jiao
Mathis, Michael R.
Farhat, Linda
Kitzman, Jacob
Eagle, Kim A.
Lettre, Guillaume
Dubé, Marie-Pierre
Zhou, Wei
Guo, Dong-chuan
Isselbacher, Eric M.
Ganesh, Santhi K.
Body, Simon C.
Kang, Hyun Min
Prakash, Siddharth
Heydarpour, Mahyar
Yang, Bo
Keavney, Bernard D.
Bottinger, Erwin P.
Farnum, Gregory A.
Lin, Maoxuan
Cordell, Heather J.
Goodship, Judith A.
Chen, Y. Eugene
Author_xml – sequence: 1
  givenname: Bo
  surname: Yang
  fullname: Yang, Bo
  email: boya@med.umich.edu
  organization: Department of Cardiac Surgery, University of Michigan, Frankel Cardiovascular Center, University of Michigan
– sequence: 2
  givenname: Wei
  surname: Zhou
  fullname: Zhou, Wei
  organization: Department of Computational Medicine and Bioinformatics, University of Michigan
– sequence: 3
  givenname: Jiao
  surname: Jiao
  fullname: Jiao, Jiao
  organization: Department of Cardiac Surgery, University of Michigan
– sequence: 4
  givenname: Jonas B.
  orcidid: 0000-0002-6654-2852
  surname: Nielsen
  fullname: Nielsen, Jonas B.
  organization: Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
– sequence: 5
  givenname: Michael R.
  surname: Mathis
  fullname: Mathis, Michael R.
  organization: Department of Anesthesiology, University of Michigan
– sequence: 6
  givenname: Mahyar
  surname: Heydarpour
  fullname: Heydarpour, Mahyar
  organization: Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School
– sequence: 7
  givenname: Guillaume
  surname: Lettre
  fullname: Lettre, Guillaume
  organization: Montreal Heart Institute, Department of Medicine, Université de Montréal
– sequence: 8
  givenname: Lasse
  surname: Folkersen
  fullname: Folkersen, Lasse
  organization: Department of Medicine, Cardiovascular Medicine Unit, Center for Molecular Medicine, Karolinska University Hospital Solna, Karolinska Institutet, Center for Biological Sequence Analysis, Technical University of Denmark
– sequence: 9
  givenname: Siddharth
  surname: Prakash
  fullname: Prakash, Siddharth
  organization: Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School
– sequence: 10
  givenname: Claudia
  surname: Schurmann
  fullname: Schurmann, Claudia
  organization: The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai
– sequence: 11
  givenname: Lars
  orcidid: 0000-0002-2110-1690
  surname: Fritsche
  fullname: Fritsche, Lars
  organization: Department of Biostatistics, University of Michigan, Norwegian University of Science and Technology
– sequence: 12
  givenname: Gregory A.
  orcidid: 0000-0002-0192-8252
  surname: Farnum
  fullname: Farnum, Gregory A.
  organization: Department of Computational Medicine and Bioinformatics, University of Michigan
– sequence: 13
  givenname: Maoxuan
  surname: Lin
  fullname: Lin, Maoxuan
  organization: Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
– sequence: 14
  givenname: Mohammad
  surname: Othman
  fullname: Othman, Mohammad
  organization: Department of Ophthalmology and Visual Sciences, University of Michigan
– sequence: 15
  givenname: Whitney
  surname: Hornsby
  fullname: Hornsby, Whitney
  organization: Frankel Cardiovascular Center, University of Michigan
– sequence: 16
  givenname: Anisa
  surname: Driscoll
  fullname: Driscoll, Anisa
  organization: Frankel Cardiovascular Center, University of Michigan
– sequence: 17
  givenname: Alexandra
  surname: Levasseur
  fullname: Levasseur, Alexandra
  organization: Frankel Cardiovascular Center, University of Michigan
– sequence: 18
  givenname: Marc
  surname: Thomas
  fullname: Thomas, Marc
  organization: Frankel Cardiovascular Center, University of Michigan
– sequence: 19
  givenname: Linda
  surname: Farhat
  fullname: Farhat, Linda
  organization: Frankel Cardiovascular Center, University of Michigan
– sequence: 20
  givenname: Marie-Pierre
  surname: Dubé
  fullname: Dubé, Marie-Pierre
  organization: Montreal Heart Institute, Department of Medicine, Université de Montréal
– sequence: 21
  givenname: Eric M.
  surname: Isselbacher
  fullname: Isselbacher, Eric M.
  organization: Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School
– sequence: 22
  givenname: Anders
  surname: Franco-Cereceda
  fullname: Franco-Cereceda, Anders
  organization: Department of Molecular Medicine and Surgery, Cardiothoracic Surgery Unit, Karolinska University Hospital Solna, Karolinska Institutet
– sequence: 23
  givenname: Dong-chuan
  surname: Guo
  fullname: Guo, Dong-chuan
  organization: Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School
– sequence: 24
  givenname: Erwin P.
  surname: Bottinger
  fullname: Bottinger, Erwin P.
  organization: The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai
– sequence: 25
  givenname: G. Michael
  surname: Deeb
  fullname: Deeb, G. Michael
  organization: Department of Cardiac Surgery, University of Michigan, Frankel Cardiovascular Center, University of Michigan
– sequence: 26
  givenname: Anna
  surname: Booher
  fullname: Booher, Anna
  organization: Frankel Cardiovascular Center, University of Michigan, Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
– sequence: 27
  givenname: Sachin
  surname: Kheterpal
  fullname: Kheterpal, Sachin
  organization: Department of Anesthesiology, University of Michigan
– sequence: 28
  givenname: Y. Eugene
  surname: Chen
  fullname: Chen, Y. Eugene
  organization: Department of Cardiac Surgery, University of Michigan, Frankel Cardiovascular Center, University of Michigan, Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
– sequence: 29
  givenname: Hyun Min
  surname: Kang
  fullname: Kang, Hyun Min
  organization: Department of Biostatistics, University of Michigan
– sequence: 30
  givenname: Jacob
  surname: Kitzman
  fullname: Kitzman, Jacob
  organization: Department of Computational Medicine and Bioinformatics, University of Michigan, Department of Human Genetics, University of Michigan
– sequence: 31
  givenname: Heather J.
  surname: Cordell
  fullname: Cordell, Heather J.
  organization: Institute of Genetic Medicine, Newcastle University
– sequence: 32
  givenname: Bernard D.
  surname: Keavney
  fullname: Keavney, Bernard D.
  organization: Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Heart Centre, Central Manchester University Hospitals NHS Foundation Trust
– sequence: 33
  givenname: Judith A.
  surname: Goodship
  fullname: Goodship, Judith A.
  organization: Institute of Genetic Medicine, Newcastle University
– sequence: 34
  givenname: Santhi K.
  surname: Ganesh
  fullname: Ganesh, Santhi K.
  organization: Frankel Cardiovascular Center, University of Michigan, Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Department of Human Genetics, University of Michigan
– sequence: 35
  givenname: Gonçalo
  surname: Abecasis
  fullname: Abecasis, Gonçalo
  organization: Department of Biostatistics, University of Michigan
– sequence: 36
  givenname: Kim A.
  surname: Eagle
  fullname: Eagle, Kim A.
  organization: Frankel Cardiovascular Center, University of Michigan, Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
– sequence: 37
  givenname: Alan P.
  orcidid: 0000-0002-2081-1105
  surname: Boyle
  fullname: Boyle, Alan P.
  organization: Department of Computational Medicine and Bioinformatics, University of Michigan, Department of Human Genetics, University of Michigan
– sequence: 38
  givenname: Ruth J. F.
  surname: Loos
  fullname: Loos, Ruth J. F.
  organization: The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, The Mindich Child Health Development Institute, The Icahn School of Medicine at Mount Sinai
– sequence: 39
  givenname: Per
  surname: Eriksson
  fullname: Eriksson, Per
  organization: Department of Medicine, Cardiovascular Medicine Unit, Center for Molecular Medicine, Karolinska University Hospital Solna, Karolinska Institutet
– sequence: 40
  givenname: Jean-Claude
  surname: Tardif
  fullname: Tardif, Jean-Claude
  organization: Montreal Heart Institute, Department of Medicine, Université de Montréal
– sequence: 41
  givenname: Chad M.
  surname: Brummett
  fullname: Brummett, Chad M.
  organization: Department of Anesthesiology, University of Michigan
– sequence: 42
  givenname: Dianna M.
  surname: Milewicz
  fullname: Milewicz, Dianna M.
  organization: Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School
– sequence: 43
  givenname: Simon C.
  surname: Body
  fullname: Body, Simon C.
  organization: Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School
– sequence: 44
  givenname: Cristen J.
  orcidid: 0000-0001-5645-4966
  surname: Willer
  fullname: Willer, Cristen J.
  email: boya@med.umich.edu
  organization: Frankel Cardiovascular Center, University of Michigan, Department of Computational Medicine and Bioinformatics, University of Michigan, Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Department of Human Genetics, University of Michigan
BackLink https://www.ncbi.nlm.nih.gov/pubmed/28541271$$D View this record in MEDLINE/PubMed
BookMark eNptktFr3SAUh2V0rN1dn_Y-hL0MtmxqTDQvg0vZukJhe-iexZiTzIvROzUX-t8vadpxW-qLot_5-HE8r9GJDx4QekvJZ0pK-cWbMI6JVlzSF-iMEU4LKlh5cnQ-Recp7ci8yoZKzl-hUyYrTpmgZ0j9iiGD9YV2GaL1A9a-wxGGyekc4i0ewEO2Bh90tNrnhD3oiC-3N1uO7bh31ugMHbYet9ZMaW87rENcK9wB3qCXvXYJzu_3Dfr9_dvNxY_i-ufl1cX2ujA1rXOhTQuiFRVrS90x0zcN4UIQ2pdQm4a1TdUTYLXmUJV9LxjrG2lawaWR0EHXlBt0tXq7oHdqH-2o460K2qq7ixAHpZdUDpTgNZdlJzteEk5a3rZScFPX1dwsrueGbdDX1bWf2hE6Az5H7R5JH794-0cN4aAqXsmKyFnw4V4Qw98JUlajTQac0x7ClBRtCJs_rCFiRt8_QXdhin5u1R1FGlnRRfjuONH_KA__OAN0BUwMKUXolbFZZxuWgNYpStQyLupoXOaaj09qHrTP059WOu2XMYF4FPQZ_B_hrNEm
CitedBy_id crossref_primary_10_1093_cvr_cvz211
crossref_primary_10_1038_s41467_022_31815_1
crossref_primary_10_1136_bmjopen_2022_067977
crossref_primary_10_1093_cvr_cvac099
crossref_primary_10_3389_fphys_2017_00687
crossref_primary_10_3389_fphys_2020_01015
crossref_primary_10_3390_jcdd5020021
crossref_primary_10_1161_JAHA_120_019006
crossref_primary_10_1369_00221554231207434
crossref_primary_10_1016_j_amjcard_2017_11_012
crossref_primary_10_1098_rsob_200088
crossref_primary_10_1161_CIRCRESAHA_123_323474
crossref_primary_10_1161_ATVBAHA_122_318334
crossref_primary_10_1111_eci_13027
crossref_primary_10_1016_j_phrs_2022_106480
crossref_primary_10_1016_j_ccl_2019_09_010
crossref_primary_10_1161_CIR_0000000000000757
crossref_primary_10_1161_CIR_0000000000001209
crossref_primary_10_1161_CIR_0000000000000950
crossref_primary_10_1161_ATVBAHA_117_309962
crossref_primary_10_1002_jgc4_1341
crossref_primary_10_1016_j_jtcvs_2018_02_087
crossref_primary_10_3389_fphys_2017_00612
crossref_primary_10_1007_s11936_018_0703_2
crossref_primary_10_1161_CIR_0000000000001123
crossref_primary_10_3390_biom9120879
crossref_primary_10_1161_CIR_0000000000001052
crossref_primary_10_1186_s12920_021_00902_5
crossref_primary_10_3390_app15020714
crossref_primary_10_3390_children12060669
crossref_primary_10_1016_j_yjmcc_2019_02_015
crossref_primary_10_1002_humu_23620
crossref_primary_10_3389_fcvm_2021_802930
crossref_primary_10_1371_journal_pone_0246447
crossref_primary_10_1681_ASN_2020050681
crossref_primary_10_3390_jcdd7040038
crossref_primary_10_1097_HCO_0000000000001028
crossref_primary_10_1016_j_yjmcc_2019_05_013
crossref_primary_10_3389_fphys_2018_01921
crossref_primary_10_1016_j_echo_2017_10_008
crossref_primary_10_1016_j_cpcardiol_2019_04_005
crossref_primary_10_1161_CIRCGENETICS_117_002012
crossref_primary_10_1161_CIRCRESAHA_120_317979
crossref_primary_10_1016_j_tcm_2018_06_014
crossref_primary_10_3892_ijmm_2019_4087
crossref_primary_10_1177_1358863X19886361
crossref_primary_10_1242_dmm_036764
crossref_primary_10_1038_s41569_023_00845_7
crossref_primary_10_1093_eurheartj_ehae829
crossref_primary_10_1155_2019_9613258
crossref_primary_10_1093_nar_gkab924
crossref_primary_10_1161_CIRCIMAGING_120_010448
crossref_primary_10_3390_cells10113112
crossref_primary_10_3389_fphys_2017_00397
crossref_primary_10_1161_CIR_0000000000000659
crossref_primary_10_1016_j_semperi_2023_151729
crossref_primary_10_3390_diagnostics15050600
crossref_primary_10_1161_CIR_0000000000001303
crossref_primary_10_1016_j_tvir_2021_100747
crossref_primary_10_1007_s11010_024_04997_z
crossref_primary_10_1016_j_tcm_2018_06_008
crossref_primary_10_1371_journal_pgen_1010777
crossref_primary_10_3390_biom10121614
crossref_primary_10_1038_s42003_021_02571_7
crossref_primary_10_1007_s00439_023_02538_0
crossref_primary_10_1161_CIRCGEN_119_002617
crossref_primary_10_1016_j_ajhg_2021_06_016
crossref_primary_10_1016_j_molcel_2018_01_010
crossref_primary_10_1038_s41390_023_02811_y
crossref_primary_10_1161_ATVBAHA_122_318566
crossref_primary_10_1016_j_cdev_2022_203801
crossref_primary_10_1007_s11886_024_02041_6
crossref_primary_10_1038_s10038_021_00976_0
Cites_doi 10.1136/heart.83.1.81
10.1038/pr.2014.67
10.1038/nature11247
10.1161/CIRCULATIONAHA.107.740878
10.1001/jama.2011.1286
10.1016/j.jbiomech.2013.03.029
10.1371/journal.pone.0008830
10.1086/519795
10.1093/hmg/ddu399
10.1038/ng.2892
10.1038/nature15393
10.1073/pnas.1010257108
10.1161/CIRCGENETICS.115.001324
10.1093/nar/gkr917
10.1038/nature01827
10.1371/journal.pone.0064496
10.1016/S0735-1097(02)01886-7
10.1136/jmg.2004.026740
10.1002/1096-8628(20011115)104:1<79::AID-AJMG1598>3.0.CO;2-T
10.1016/j.cell.2016.11.033
10.1016/j.ejmg.2008.06.005
10.1016/j.yjmcc.2012.05.009
10.1002/ajmg.a.30684
10.1002/stem.1318
10.1371/journal.pgen.1000529
10.1242/dev.063495
10.1161/01.RES.0000141429.13560.cb
10.1002/dvdy.20051
10.1016/j.ahj.2004.10.036
10.1093/bioinformatics/btv336
10.1172/JCI44555
10.1093/hmg/dds552
10.1242/dev.02519
10.1038/nmeth.1906
10.1155/2012/145202
10.1161/01.CIR.0000155623.48408.C5
10.1002/humu.22434
10.1093/hmg/ddt275
10.1097/01.hco.0000221578.18254.70
10.1038/nprot.2013.143
10.1186/1471-2350-14-44
10.1016/j.jacc.2004.03.050
10.1016/j.ydbio.2004.08.008
10.1016/j.jacc.2009.12.068
10.1093/hmg/ddn187
10.1038/nmeth.1785
10.5114/aoms.2013.39788
10.1016/j.jss.2006.04.040
10.1186/s12881-015-0152-7
10.1002/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V
10.1161/ATVBAHA.113.302071
10.1002/ajmg.a.32042
10.1038/ng.3643
10.1371/journal.pone.0062138
10.1016/j.cell.2014.11.021
10.1038/nprot.2009.86
10.1136/jmg.2007.052183
10.1016/0378-1119(94)00893-W
10.1101/gad.11.8.1061
10.1093/bioinformatics/btu704
10.1101/gad.11.8.1048
10.1101/gr.137323.112
10.1038/nature19057
10.1038/ng2088
10.1093/nar/gkt850
10.1007/s00439-006-0316-9
10.1002/0471142905.hg0720s76
10.1038/ng.2653
ContentType Journal Article
Copyright The Author(s) 2017
Copyright Nature Publishing Group May 2017
Copyright © 2017, The Author(s) 2017 The Author(s)
Copyright_xml – notice: The Author(s) 2017
– notice: Copyright Nature Publishing Group May 2017
– notice: Copyright © 2017, The Author(s) 2017 The Author(s)
DBID C6C
AAYXX
CITATION
CGR
CUY
CVF
ECM
EIF
NPM
3V.
7QL
7QP
7QR
7SN
7SS
7ST
7T5
7T7
7TM
7TO
7X7
7XB
88E
8AO
8FD
8FE
8FG
8FH
8FI
8FJ
8FK
ABUWG
AEUYN
AFKRA
ARAPS
AZQEC
BBNVY
BENPR
BGLVJ
BHPHI
C1K
CCPQU
DWQXO
FR3
FYUFA
GHDGH
GNUQQ
H94
HCIFZ
K9.
LK8
M0S
M1P
M7P
P5Z
P62
P64
PHGZM
PHGZT
PIMPY
PJZUB
PKEHL
PPXIY
PQEST
PQGLB
PQQKQ
PQUKI
PRINS
RC3
SOI
7X8
5PM
DOA
DOI 10.1038/ncomms15481
DatabaseName Springer Nature OA Free Journals
CrossRef
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
ProQuest Central (Corporate)
Bacteriology Abstracts (Microbiology B)
Calcium & Calcified Tissue Abstracts
Chemoreception Abstracts
Ecology Abstracts
Entomology Abstracts (Full archive)
Environment Abstracts
Immunology Abstracts
Industrial and Applied Microbiology Abstracts (Microbiology A)
Nucleic Acids Abstracts
Oncogenes and Growth Factors Abstracts
Health & Medical Collection
ProQuest Central (purchase pre-March 2016)
Medical Database (Alumni Edition)
ProQuest Pharma Collection
Technology Research Database
ProQuest SciTech Collection
ProQuest Technology Collection
ProQuest Natural Science Collection
Hospital Premium Collection
Hospital Premium Collection (Alumni Edition)
ProQuest Central (Alumni) (purchase pre-March 2016)
ProQuest Central (Alumni)
One Sustainability
ProQuest Central UK/Ireland
Advanced Technologies & Computer Science Collection
ProQuest Central Essentials
Biological Science Collection
AUTh Library subscriptions: ProQuest Central
Technology Collection
Natural Science Collection
Environmental Sciences and Pollution Management
ProQuest One Community College
ProQuest Central Korea
Engineering Research Database
Health Research Premium Collection
Health Research Premium Collection (Alumni)
ProQuest Central Student
AIDS and Cancer Research Abstracts
SciTech Premium Collection
ProQuest Health & Medical Complete (Alumni)
Biological Sciences
ProQuest Health & Medical Collection
Medical Database
Biological Science Database
Advanced Technologies & Aerospace Database
ProQuest Advanced Technologies & Aerospace Collection
Biotechnology and BioEngineering Abstracts
ProQuest Central Premium
ProQuest One Academic
Publicly Available Content Database
ProQuest Health & Medical Research Collection
ProQuest One Academic Middle East (New)
One Health & Nursing
ProQuest One Academic Eastern Edition (DO NOT USE)
One Applied & Life Sciences
ProQuest One Academic (retired)
ProQuest One Academic UKI Edition
ProQuest Central China
Genetics Abstracts
Environment Abstracts
MEDLINE - Academic
PubMed Central (Full Participant titles)
Open Access: DOAJ - Directory of Open Access Journals
DatabaseTitle CrossRef
MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
Publicly Available Content Database
ProQuest Central Student
Oncogenes and Growth Factors Abstracts
ProQuest Advanced Technologies & Aerospace Collection
ProQuest Central Essentials
Nucleic Acids Abstracts
SciTech Premium Collection
ProQuest Central China
Environmental Sciences and Pollution Management
ProQuest One Applied & Life Sciences
ProQuest One Sustainability
Health Research Premium Collection
Natural Science Collection
Health & Medical Research Collection
Biological Science Collection
Chemoreception Abstracts
Industrial and Applied Microbiology Abstracts (Microbiology A)
ProQuest Central (New)
ProQuest Medical Library (Alumni)
Advanced Technologies & Aerospace Collection
ProQuest Biological Science Collection
ProQuest One Academic Eastern Edition
ProQuest Hospital Collection
ProQuest Technology Collection
Health Research Premium Collection (Alumni)
Biological Science Database
Ecology Abstracts
ProQuest Hospital Collection (Alumni)
Biotechnology and BioEngineering Abstracts
Entomology Abstracts
ProQuest Health & Medical Complete
ProQuest One Academic UKI Edition
Engineering Research Database
ProQuest One Academic
Calcium & Calcified Tissue Abstracts
ProQuest One Academic (New)
Technology Collection
Technology Research Database
ProQuest One Academic Middle East (New)
ProQuest Health & Medical Complete (Alumni)
ProQuest Central (Alumni Edition)
ProQuest One Community College
ProQuest One Health & Nursing
ProQuest Natural Science Collection
ProQuest Pharma Collection
ProQuest Central
ProQuest Health & Medical Research Collection
Genetics Abstracts
Health and Medicine Complete (Alumni Edition)
ProQuest Central Korea
Bacteriology Abstracts (Microbiology B)
AIDS and Cancer Research Abstracts
ProQuest SciTech Collection
Advanced Technologies & Aerospace Database
ProQuest Medical Library
Immunology Abstracts
Environment Abstracts
ProQuest Central (Alumni)
MEDLINE - Academic
DatabaseTitleList

CrossRef

MEDLINE
MEDLINE - Academic
Publicly Available Content Database
Database_xml – sequence: 1
  dbid: DOA
  name: DOAJ Directory of Open Access Journals
  url: https://www.doaj.org/
  sourceTypes: Open Website
– sequence: 2
  dbid: NPM
  name: PubMed
  url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 3
  dbid: PIMPY
  name: Publicly Available Content Database
  url: http://search.proquest.com/publiccontent
  sourceTypes: Aggregation Database
DeliveryMethod fulltext_linktorsrc
Discipline Biology
Medicine
EISSN 2041-1723
EndPage 10
ExternalDocumentID oai_doaj_org_article_746483d8d43040b4bb874c6651724a72
PMC5458508
4322530649
28541271
10_1038_ncomms15481
Genre Research Support, Non-U.S. Gov't
Journal Article
Research Support, N.I.H., Extramural
GeographicLocations New York
Canada
Sweden
United Kingdom--UK
United States--US
Quebec Canada
Montreal Quebec Canada
Ann Arbor Michigan
Michigan
GeographicLocations_xml – name: Quebec Canada
– name: New York
– name: Canada
– name: Montreal Quebec Canada
– name: United Kingdom--UK
– name: Sweden
– name: Michigan
– name: Ann Arbor Michigan
– name: United States--US
GrantInformation_xml – fundername: NIMH NIH HHS
  grantid: R01 MH101822
– fundername: NIMH NIH HHS
  grantid: R01 MH101810
– fundername: NIMH NIH HHS
  grantid: R01 MH101819
– fundername: NIMH NIH HHS
  grantid: R01 MH090936
– fundername: British Heart Foundation
  grantid: RG/15/12/31616
– fundername: NIH HHS
  grantid: S10 OD018522
– fundername: NHLBI NIH HHS
  grantid: R01 HL109946
– fundername: NIMH NIH HHS
  grantid: R01 MH101814
– fundername: NIMH NIH HHS
  grantid: R01 MH090948
– fundername: NIMH NIH HHS
  grantid: R01 MH101825
GroupedDBID ---
0R~
39C
3V.
53G
5VS
70F
7X7
88E
8AO
8FE
8FG
8FH
8FI
8FJ
AAHBH
AAJSJ
ABUWG
ACGFO
ACGFS
ACIWK
ACMJI
ACPRK
ACSMW
ADBBV
ADFRT
ADMLS
ADRAZ
AENEX
AEUYN
AFKRA
AFRAH
AHMBA
AJTQC
ALIPV
ALMA_UNASSIGNED_HOLDINGS
AMTXH
AOIJS
ARAPS
ASPBG
AVWKF
AZFZN
BAPOH
BBNVY
BCNDV
BENPR
BGLVJ
BHPHI
BPHCQ
BVXVI
C6C
CCPQU
DIK
EBLON
EBS
EE.
EMOBN
F5P
FEDTE
FYUFA
GROUPED_DOAJ
HCIFZ
HMCUK
HVGLF
HYE
HZ~
KQ8
LK8
M1P
M48
M7P
M~E
NAO
O9-
OK1
P2P
P62
PIMPY
PQQKQ
PROAC
PSQYO
RNS
RNT
RNTTT
RPM
SNYQT
SV3
TSG
UKHRP
AASML
AAYXX
AFFHD
CITATION
PHGZM
PHGZT
PJZUB
PPXIY
PQGLB
CGR
CUY
CVF
ECM
EIF
NPM
7QL
7QP
7QR
7SN
7SS
7ST
7T5
7T7
7TM
7TO
7XB
8FD
8FK
AZQEC
C1K
DWQXO
FR3
GNUQQ
H94
K9.
P64
PKEHL
PQEST
PQUKI
PRINS
RC3
SOI
7X8
PUEGO
5PM
ID FETCH-LOGICAL-c616t-acbe7b752b3ad2cf99047701f3e6c92b95f0e26a4e53ff722f98cb748c8eded93
IEDL.DBID DOA
ISICitedReferencesCount 91
ISICitedReferencesURI http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000401964900001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
ISSN 2041-1723
IngestDate Tue Oct 14 18:47:59 EDT 2025
Tue Nov 04 01:38:42 EST 2025
Fri Sep 05 09:00:08 EDT 2025
Sat Nov 29 14:52:22 EST 2025
Mon Jul 21 05:50:27 EDT 2025
Sat Nov 29 03:46:41 EST 2025
Tue Nov 18 22:25:24 EST 2025
Fri Feb 21 02:39:45 EST 2025
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 1
Language English
License This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c616t-acbe7b752b3ad2cf99047701f3e6c92b95f0e26a4e53ff722f98cb748c8eded93
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
content type line 23
These authors contributed equally to this work
These authors jointly supervised this work
ORCID 0000-0002-2081-1105
0000-0002-0192-8252
0000-0002-2110-1690
0000-0001-5645-4966
0000-0002-6654-2852
OpenAccessLink https://doaj.org/article/746483d8d43040b4bb874c6651724a72
PMID 28541271
PQID 1902098518
PQPubID 546298
PageCount 10
ParticipantIDs doaj_primary_oai_doaj_org_article_746483d8d43040b4bb874c6651724a72
pubmedcentral_primary_oai_pubmedcentral_nih_gov_5458508
proquest_miscellaneous_1902481907
proquest_journals_1902098518
pubmed_primary_28541271
crossref_citationtrail_10_1038_ncomms15481
crossref_primary_10_1038_ncomms15481
springer_journals_10_1038_ncomms15481
PublicationCentury 2000
PublicationDate 2017-05-25
PublicationDateYYYYMMDD 2017-05-25
PublicationDate_xml – month: 05
  year: 2017
  text: 2017-05-25
  day: 25
PublicationDecade 2010
PublicationPlace London
PublicationPlace_xml – name: London
– name: England
PublicationTitle Nature communications
PublicationTitleAbbrev Nat Commun
PublicationTitleAlternate Nat Commun
PublicationYear 2017
Publisher Nature Publishing Group UK
Nature Publishing Group
Nature Portfolio
Publisher_xml – name: Nature Publishing Group UK
– name: Nature Publishing Group
– name: Nature Portfolio
References Lek (CR19) 2016; 536
Jiao (CR69) 2013; 22
Siu, Silversides (CR5) 2010; 55
Cordell (CR48) 2013; 22
Purcell (CR65) 2007; 81
Lourenco (CR36) 2011; 108
Losenno, Goodman, Chu (CR3) 2012; 2012
Sarkozy (CR33) 2005; 42
Hirayama-Yamada (CR54) 2005; 135
Yang (CR55) 2013; 9
McBride (CR15) 2008; 17
Lin, Lin, Chen, Zhou, Chang (CR16) 2012; 139
Ellison (CR9) 2007; 142
Michelena (CR7) 2008; 117
Garg (CR32) 2003; 424
Cripe, Andelfinger, Martin, Shooner, Benson (CR11) 2004; 44
Kennedy, Teebi, Adatia, Teshima (CR31) 2001; 104
Yang (CR59) 2012; 18
Sveinbjornsson (CR18) 2014; 23
Jiao (CR70) 2013; 31
Marchini, Howie, Myers, McVean, Donnelly (CR67) 2007; 39
Wang (CR50) 2013; 8
Phanstiel, Boyle, Heidari, Snyder (CR45) 2015; 31
Hoffman, Kaplan (CR1) 2002; 39
Wirrig, Yutzey (CR26) 2014; 34
Foffa (CR13) 2013; 14
Kumar, Henikoff, Ng (CR21) 2009; 4
Su (CR49) 2013; 8
Piper (CR44) 2013; 41
Yang (CR61) 2013; 34
Ward (CR4) 2000; 83
Boyle (CR42) 2012; 22
Garg (CR10) 2006; 21
Fuchsberger, Abecasis, Hinds (CR64) 2015; 31
Roberts, Ko (CR8) 2005; 111
Tomita-Mitchell, Maslen, Morris, Garg, Goldmuntz (CR34) 2007; 44
Posch (CR58) 2008; 146a
Auton (CR62) 2015; 526
Martin (CR12) 2007; 121
Lincoln, Alfieri, Yutzey (CR25) 2004; 230
Ang (CR53) 2016; 167
Kircher (CR22) 2014; 46
Molkentin, Lin, Duncan, Olson (CR28) 1997; 11
Mattapally, Nizamuddin, Murthy, Thangaraj, Banerjee (CR57) 2015; 16
Wang (CR60) 2011; 28
Ernst, Kellis (CR68) 2012; 9
Zhang (CR35) 2008; 51
Ran (CR51) 2013; 8
Howie, Donnelly, Marchini (CR66) 2009; 5
Ward, Kellis (CR41) 2012; 40
Kuo (CR29) 1997; 11
Bernstein (CR43) 2012; 489
LaHaye (CR56) 2016; 9
Delaneau, Marchini, Zagury (CR63) 2012; 9
Huang, Cukerman, Liew (CR52) 1995; 155
Michelena (CR6) 2011; 306
Rao (CR46) 2014; 159
McCarthy (CR17) 2016; 48
Laforest, Andelfinger, Nemer (CR39) 2011; 121
Pu, Ishiwata, Juraszek, Ma, Izumo (CR40) 2004; 275
Tutar, Ekici, Atalay, Nacar (CR2) 2005; 150
Wooten (CR14) 2010; 5
CR23
Padang, Bagnall, Richmond, Bannon, Semsarian (CR38) 2012; 53
CR20
Pehlivan (CR30) 1999; 83
de Lange (CR24) 2004; 95
Rivera-Feliciano (CR27) 2006; 133
Pasta (CR47) 2013; 46
Bonachea (CR37) 2014; 76
A Sarkozy (BFncomms15481_CR33) 2005; 42
V Garg (BFncomms15481_CR10) 2006; 21
S Mattapally (BFncomms15481_CR57) 2015; 16
A Auton (BFncomms15481_CR62) 2015; 526
J Marchini (BFncomms15481_CR67) 2007; 39
YQ Yang (BFncomms15481_CR61) 2013; 34
G Sveinbjornsson (BFncomms15481_CR18) 2014; 23
E Tutar (BFncomms15481_CR2) 2005; 150
P Kumar (BFncomms15481_CR21) 2009; 4
YQ Yang (BFncomms15481_CR59) 2012; 18
C Fuchsberger (BFncomms15481_CR64) 2015; 31
CJ Lin (BFncomms15481_CR16) 2012; 139
BFncomms15481_CR20
S Purcell (BFncomms15481_CR65) 2007; 81
KL Losenno (BFncomms15481_CR3) 2012; 2012
BFncomms15481_CR23
S LaHaye (BFncomms15481_CR56) 2016; 9
EC Wooten (BFncomms15481_CR14) 2010; 5
HI Michelena (BFncomms15481_CR6) 2011; 306
LJ Martin (BFncomms15481_CR12) 2007; 121
LD Ward (BFncomms15481_CR41) 2012; 40
J Piper (BFncomms15481_CR44) 2013; 41
YS Ang (BFncomms15481_CR53) 2016; 167
JI Hoffman (BFncomms15481_CR1) 2002; 39
M Lek (BFncomms15481_CR19) 2016; 536
D Lourenco (BFncomms15481_CR36) 2011; 108
B Laforest (BFncomms15481_CR39) 2011; 121
KL McBride (BFncomms15481_CR15) 2008; 17
I Foffa (BFncomms15481_CR13) 2013; 14
L Cripe (BFncomms15481_CR11) 2004; 44
A Tomita-Mitchell (BFncomms15481_CR34) 2007; 44
T Pehlivan (BFncomms15481_CR30) 1999; 83
FA Ran (BFncomms15481_CR51) 2013; 8
R Padang (BFncomms15481_CR38) 2012; 53
SC Siu (BFncomms15481_CR5) 2010; 55
HI Michelena (BFncomms15481_CR7) 2008; 117
S Pasta (BFncomms15481_CR47) 2013; 46
BE Bernstein (BFncomms15481_CR43) 2012; 489
JD Molkentin (BFncomms15481_CR28) 1997; 11
E Wang (BFncomms15481_CR50) 2013; 8
AP Boyle (BFncomms15481_CR42) 2012; 22
W Zhang (BFncomms15481_CR35) 2008; 51
EE Wirrig (BFncomms15481_CR26) 2014; 34
DH Phanstiel (BFncomms15481_CR45) 2015; 31
J Wang (BFncomms15481_CR60) 2011; 28
M Kircher (BFncomms15481_CR22) 2014; 46
SJ Kennedy (BFncomms15481_CR31) 2001; 104
J Jiao (BFncomms15481_CR70) 2013; 31
WY Huang (BFncomms15481_CR52) 1995; 155
O Delaneau (BFncomms15481_CR63) 2012; 9
SS Rao (BFncomms15481_CR46) 2014; 159
J Ernst (BFncomms15481_CR68) 2012; 9
RJ Su (BFncomms15481_CR49) 2013; 8
S McCarthy (BFncomms15481_CR17) 2016; 48
YQ Yang (BFncomms15481_CR55) 2013; 9
WC Roberts (BFncomms15481_CR8) 2005; 111
JW Ellison (BFncomms15481_CR9) 2007; 142
CT Kuo (BFncomms15481_CR29) 1997; 11
J Jiao (BFncomms15481_CR69) 2013; 22
C Ward (BFncomms15481_CR4) 2000; 83
FJ de Lange (BFncomms15481_CR24) 2004; 95
HJ Cordell (BFncomms15481_CR48) 2013; 22
K Hirayama-Yamada (BFncomms15481_CR54) 2005; 135
EM Bonachea (BFncomms15481_CR37) 2014; 76
V Garg (BFncomms15481_CR32) 2003; 424
J Lincoln (BFncomms15481_CR25) 2004; 230
MG Posch (BFncomms15481_CR58) 2008; 146a
WT Pu (BFncomms15481_CR40) 2004; 275
BN Howie (BFncomms15481_CR66) 2009; 5
J Rivera-Feliciano (BFncomms15481_CR27) 2006; 133
References_xml – volume: 83
  start-page: 81
  year: 2000
  end-page: 85
  ident: CR4
  article-title: Clinical significance of the bicuspid aortic valve
  publication-title: Heart
  doi: 10.1136/heart.83.1.81
– volume: 76
  start-page: 211
  year: 2014
  end-page: 216
  ident: CR37
  article-title: Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve
  publication-title: Pediatr. Res.
  doi: 10.1038/pr.2014.67
– volume: 489
  start-page: 57
  year: 2012
  end-page: 74
  ident: CR43
  article-title: An integrated encyclopedia of DNA elements in the human genome
  publication-title: Nature
  doi: 10.1038/nature11247
– volume: 117
  start-page: 2776
  year: 2008
  end-page: 2784
  ident: CR7
  article-title: Natural history of asymptomatic patients with normally functioning or minimally dysfunctional bicuspid aortic valve in the community
  publication-title: Circulation
  doi: 10.1161/CIRCULATIONAHA.107.740878
– volume: 306
  start-page: 1104
  year: 2011
  end-page: 1112
  ident: CR6
  article-title: Incidence of aortic complications in patients with bicuspid aortic valves
  publication-title: JAMA
  doi: 10.1001/jama.2011.1286
– volume: 46
  start-page: 1729
  year: 2013
  end-page: 1738
  ident: CR47
  article-title: Difference in hemodynamic and wall stress of ascending thoracic aortic aneurysms with bicuspid and tricuspid aortic valve
  publication-title: J. Biomech.
  doi: 10.1016/j.jbiomech.2013.03.029
– volume: 5
  start-page: e8830
  year: 2010
  ident: CR14
  article-title: Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve
  publication-title: PLoS ONE
  doi: 10.1371/journal.pone.0008830
– volume: 81
  start-page: 559
  year: 2007
  end-page: 575
  ident: CR65
  article-title: PLINK: a tool set for whole-genome association and population-based linkage analyses
  publication-title: Am. J. Hum. Genet.Hum. Genet.
  doi: 10.1086/519795
– volume: 23
  start-page: 6935
  year: 2014
  end-page: 6943
  ident: CR18
  article-title: Rare mutations associating with serum creatinine and chronic kidney disease
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddu399
– volume: 46
  start-page: 310
  year: 2014
  end-page: 315
  ident: CR22
  article-title: A general framework for estimating the relative pathogenicity of human genetic variants
  publication-title: Nat. Genet.
  doi: 10.1038/ng.2892
– volume: 526
  start-page: 68
  year: 2015
  end-page: 74
  ident: CR62
  article-title: A global reference for human genetic variation
  publication-title: Nature
  doi: 10.1038/nature15393
– volume: 108
  start-page: 1597
  year: 2011
  end-page: 1602
  ident: CR36
  article-title: Loss-of-function mutation in GATA4 causes anomalies of human testicular development
  publication-title: Proc. Natl Acad. Sci. USA
  doi: 10.1073/pnas.1010257108
– volume: 9
  start-page: 320
  year: 2016
  end-page: 329
  ident: CR56
  article-title: Utilization of whole exome sequencing to identify causative mutations in familial congenital heart disease
  publication-title: Circ. Cardiovasc. Genet.
  doi: 10.1161/CIRCGENETICS.115.001324
– volume: 40
  start-page: D930
  year: 2012
  end-page: D934
  ident: CR41
  article-title: HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gkr917
– volume: 424
  start-page: 443
  year: 2003
  end-page: 447
  ident: CR32
  article-title: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
  publication-title: Nature
  doi: 10.1038/nature01827
– volume: 8
  start-page: e64496
  year: 2013
  ident: CR49
  article-title: Efficient generation of integration-free ips cells from human adult peripheral blood using BCL-XL together with Yamanaka factors
  publication-title: PLoS ONE
  doi: 10.1371/journal.pone.0064496
– volume: 39
  start-page: 1890
  year: 2002
  end-page: 1900
  ident: CR1
  article-title: The incidence of congenital heart disease
  publication-title: J. Am. Coll. Cardiol.
  doi: 10.1016/S0735-1097(02)01886-7
– volume: 42
  start-page: e16
  year: 2005
  ident: CR33
  article-title: Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
  publication-title: J. Med. Genet.
  doi: 10.1136/jmg.2004.026740
– volume: 104
  start-page: 79
  year: 2001
  end-page: 80
  ident: CR31
  article-title: Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects
  publication-title: Am. J. Med. Genet.
  doi: 10.1002/1096-8628(20011115)104:1<79::AID-AJMG1598>3.0.CO;2-T
– volume: 167
  start-page: 1734
  year: 2016
  end-page: 1749.e1722
  ident: CR53
  article-title: Disease model of GATA4 mutation reveals transcription factor cooperativity in human cardiogenesis
  publication-title: Cell
  doi: 10.1016/j.cell.2016.11.033
– volume: 51
  start-page: 527
  year: 2008
  end-page: 535
  ident: CR35
  article-title: GATA4 mutations in 486 Chinese patients with congenital heart disease
  publication-title: Eur. J. Med. Genet.
  doi: 10.1016/j.ejmg.2008.06.005
– volume: 53
  start-page: 277
  year: 2012
  end-page: 281
  ident: CR38
  article-title: Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease
  publication-title: J. Mol. Cell Cardiol.
  doi: 10.1016/j.yjmcc.2012.05.009
– volume: 135
  start-page: 47
  year: 2005
  end-page: 52
  ident: CR54
  article-title: Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect
  publication-title: Am. J. Med. Genet. A
  doi: 10.1002/ajmg.a.30684
– volume: 31
  start-page: 729
  year: 2013
  end-page: 740
  ident: CR70
  article-title: Promoting reprogramming by FGF2 reveals that the extracellular matrix is a barrier for reprogramming fibroblasts to pluripotency
  publication-title: Stem Cells
  doi: 10.1002/stem.1318
– volume: 18
  start-page: CR344
  year: 2012
  end-page: CR350
  ident: CR59
  article-title: Novel GATA4 mutations in patients with congenital ventricular septal defects
  publication-title: Med. Sci. Monit.
– volume: 5
  start-page: e1000529
  year: 2009
  ident: CR66
  article-title: A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1000529
– volume: 139
  start-page: 3277
  year: 2012
  end-page: 3299
  ident: CR16
  article-title: Partitioning the heart: mechanisms of cardiac septation and valve development
  publication-title: Development
  doi: 10.1242/dev.063495
– volume: 95
  start-page: 645
  year: 2004
  end-page: 654
  ident: CR24
  article-title: Lineage and morphogenetic analysis of the cardiac valves
  publication-title: Circ. Res.
  doi: 10.1161/01.RES.0000141429.13560.cb
– volume: 230
  start-page: 239
  year: 2004
  end-page: 250
  ident: CR25
  article-title: Development of heart valve leaflets and supporting apparatus in chicken and mouse embryos
  publication-title: Dev. Dyn
  doi: 10.1002/dvdy.20051
– volume: 150
  start-page: 513
  year: 2005
  end-page: 515
  ident: CR2
  article-title: The prevalence of bicuspid aortic valve in newborns by echocardiographic screening
  publication-title: Am. Heart J.
  doi: 10.1016/j.ahj.2004.10.036
– volume: 31
  start-page: 3092
  year: 2015
  end-page: 3098
  ident: CR45
  article-title: Mango: a bias-correcting ChIA-PET analysis pipeline
  publication-title: Bioinformatics
  doi: 10.1093/bioinformatics/btv336
– volume: 121
  start-page: 2876
  year: 2011
  end-page: 2887
  ident: CR39
  article-title: Loss of Gata5 in mice leads to bicuspid aortic valve
  publication-title: J. Clin. Invest.
  doi: 10.1172/JCI44555
– volume: 22
  start-page: 1473
  year: 2013
  end-page: 1481
  ident: CR48
  article-title: Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/dds552
– volume: 133
  start-page: 3607
  year: 2006
  end-page: 3618
  ident: CR27
  article-title: Development of heart valves requires Gata4 expression in endothelial-derived cells
  publication-title: Development
  doi: 10.1242/dev.02519
– volume: 9
  start-page: 215
  year: 2012
  end-page: 216
  ident: CR68
  article-title: ChromHMM: automating chromatin-state discovery and characterization
  publication-title: Nat. Methods
  doi: 10.1038/nmeth.1906
– volume: 2012
  start-page: 145202
  year: 2012
  ident: CR3
  article-title: Bicuspid aortic valve disease and ascending aortic aneurysms: gaps in knowledge
  publication-title: Cardiol. Res. Pract.
  doi: 10.1155/2012/145202
– volume: 111
  start-page: 920
  year: 2005
  end-page: 925
  ident: CR8
  article-title: Frequency by decades of unicuspid, bicuspid, and tricuspid aortic valves in adults having isolated aortic valve replacement for aortic stenosis, with or without associated aortic regurgitation
  publication-title: Circulation
  doi: 10.1161/01.CIR.0000155623.48408.C5
– volume: 34
  start-page: 1662
  year: 2013
  end-page: 1671
  ident: CR61
  article-title: GATA4 loss-of-function mutations underlie familial tetralogy of fallot
  publication-title: Hum. Mutat.
  doi: 10.1002/humu.22434
– volume: 22
  start-page: 4241
  year: 2013
  end-page: 4252
  ident: CR69
  article-title: Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddt275
– volume: 21
  start-page: 180
  year: 2006
  end-page: 184
  ident: CR10
  article-title: Molecular genetics of aortic valve disease
  publication-title: Curr. Opin. Cardiol.
  doi: 10.1097/01.hco.0000221578.18254.70
– volume: 8
  start-page: 2281
  year: 2013
  end-page: 2308
  ident: CR51
  article-title: Genome engineering using the CRISPR-Cas9 system
  publication-title: Nat. Protoc.
  doi: 10.1038/nprot.2013.143
– volume: 14
  start-page: 44
  year: 2013
  ident: CR13
  article-title: Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve
  publication-title: BMC Med. Genet.
  doi: 10.1186/1471-2350-14-44
– volume: 44
  start-page: 138
  year: 2004
  end-page: 143
  ident: CR11
  article-title: Bicuspid aortic valve is heritable
  publication-title: J. Am. Coll. Cardiol.
  doi: 10.1016/j.jacc.2004.03.050
– volume: 275
  start-page: 235
  year: 2004
  end-page: 244
  ident: CR40
  article-title: GATA4 is a dosage-sensitive regulator of cardiac morphogenesis
  publication-title: Dev. Biol.
  doi: 10.1016/j.ydbio.2004.08.008
– volume: 55
  start-page: 2789
  year: 2010
  end-page: 2800
  ident: CR5
  article-title: Bicuspid aortic valve disease
  publication-title: J. Am. Coll. Cardiol.
  doi: 10.1016/j.jacc.2009.12.068
– volume: 17
  start-page: 2886
  year: 2008
  end-page: 2893
  ident: CR15
  article-title: NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddn187
– volume: 9
  start-page: 179
  year: 2012
  end-page: 181
  ident: CR63
  article-title: A linear complexity phasing method for thousands of genomes
  publication-title: Nat. Methods
  doi: 10.1038/nmeth.1785
– volume: 9
  start-page: 976
  year: 2013
  end-page: 983
  ident: CR55
  article-title: Mutation spectrum of GATA4 associated with congenital atrial septal defects
  publication-title: Arch. Med. Sci.
  doi: 10.5114/aoms.2013.39788
– volume: 142
  start-page: 28
  year: 2007
  end-page: 31
  ident: CR9
  article-title: Evidence of genetic locus heterogeneity for familial bicuspid aortic valve
  publication-title: J. Surg. Res.
  doi: 10.1016/j.jss.2006.04.040
– volume: 16
  start-page: 7
  year: 2015
  ident: CR57
  article-title: c.620C>T mutation in GATA4 is associated with congenital heart disease in South India
  publication-title: BMC Med. Genet.
  doi: 10.1186/s12881-015-0152-7
– ident: CR23
– volume: 83
  start-page: 201
  year: 1999
  end-page: 206
  ident: CR30
  article-title: GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
  publication-title: Am. J. Med. Genet.
  doi: 10.1002/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V
– volume: 34
  start-page: 737
  year: 2014
  end-page: 741
  ident: CR26
  article-title: Conserved transcriptional regulatory mechanisms in aortic valve development and disease
  publication-title: Arterioscler. Thromb. Vasc. Biol.
  doi: 10.1161/ATVBAHA.113.302071
– volume: 146a
  start-page: 251
  year: 2008
  end-page: 253
  ident: CR58
  article-title: Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects
  publication-title: Am. J. Med. Genet. A
  doi: 10.1002/ajmg.a.32042
– volume: 28
  start-page: 557
  year: 2011
  end-page: 564
  ident: CR60
  article-title: A novel GATA4 mutation responsible for congenital ventricular septal defects
  publication-title: Int. J. Mol. Med.
– volume: 48
  start-page: 1279
  year: 2016
  end-page: 1283
  ident: CR17
  article-title: A reference panel of 64,976 haplotypes for genotype imputation
  publication-title: Nat. Genet.
  doi: 10.1038/ng.3643
– volume: 8
  start-page: e62138
  year: 2013
  ident: CR50
  article-title: Identification of functional mutations in GATA4 in patients with congenital heart disease
  publication-title: PLoS ONE
  doi: 10.1371/journal.pone.0062138
– volume: 159
  start-page: 1665
  year: 2014
  end-page: 1680
  ident: CR46
  article-title: A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping
  publication-title: Cell
  doi: 10.1016/j.cell.2014.11.021
– volume: 4
  start-page: 1073
  year: 2009
  end-page: 1081
  ident: CR21
  article-title: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
  publication-title: Nat. Protoc.
  doi: 10.1038/nprot.2009.86
– volume: 44
  start-page: 779
  year: 2007
  end-page: 783
  ident: CR34
  article-title: GATA4 sequence variants in patients with congenital heart disease
  publication-title: J. Med. Genet.
  doi: 10.1136/jmg.2007.052183
– volume: 155
  start-page: 219
  year: 1995
  end-page: 223
  ident: CR52
  article-title: Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA
  publication-title: Gene
  doi: 10.1016/0378-1119(94)00893-W
– volume: 11
  start-page: 1061
  year: 1997
  end-page: 1072
  ident: CR28
  article-title: Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis
  publication-title: Genes Dev.
  doi: 10.1101/gad.11.8.1061
– volume: 31
  start-page: 782
  year: 2015
  end-page: 784
  ident: CR64
  article-title: minimac2: faster genotype imputation
  publication-title: Bioinformatics
  doi: 10.1093/bioinformatics/btu704
– volume: 11
  start-page: 1048
  year: 1997
  end-page: 1060
  ident: CR29
  article-title: GATA4 transcription factor is required for ventral morphogenesis and heart tube formation
  publication-title: Genes Dev.
  doi: 10.1101/gad.11.8.1048
– volume: 22
  start-page: 1790
  year: 2012
  end-page: 1797
  ident: CR42
  article-title: Annotation of functional variation in personal genomes using RegulomeDB
  publication-title: Genome Res.
  doi: 10.1101/gr.137323.112
– volume: 536
  start-page: 285
  year: 2016
  end-page: 291
  ident: CR19
  article-title: Analysis of protein-coding genetic variation in 60,706 humans
  publication-title: Nature
  doi: 10.1038/nature19057
– volume: 39
  start-page: 906
  year: 2007
  end-page: 913
  ident: CR67
  article-title: A new multipoint method for genome-wide association studies by imputation of genotypes
  publication-title: Nat. Genet.
  doi: 10.1038/ng2088
– volume: 41
  start-page: e201
  year: 2013
  ident: CR44
  article-title: Wellington: a novel method for the accurate identification of digital genomic footprints from DNase-seq data
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gkt850
– ident: CR20
– volume: 121
  start-page: 275
  year: 2007
  end-page: 284
  ident: CR12
  article-title: Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations
  publication-title: Hum. Genet.
  doi: 10.1007/s00439-006-0316-9
– volume: 536
  start-page: 285
  year: 2016
  ident: BFncomms15481_CR19
  publication-title: Nature
  doi: 10.1038/nature19057
– volume: 18
  start-page: CR344
  year: 2012
  ident: BFncomms15481_CR59
  publication-title: Med. Sci. Monit.
– volume: 424
  start-page: 443
  year: 2003
  ident: BFncomms15481_CR32
  publication-title: Nature
  doi: 10.1038/nature01827
– volume: 104
  start-page: 79
  year: 2001
  ident: BFncomms15481_CR31
  publication-title: Am. J. Med. Genet.
  doi: 10.1002/1096-8628(20011115)104:1<79::AID-AJMG1598>3.0.CO;2-T
– volume: 146a
  start-page: 251
  year: 2008
  ident: BFncomms15481_CR58
  publication-title: Am. J. Med. Genet. A
  doi: 10.1002/ajmg.a.32042
– volume: 21
  start-page: 180
  year: 2006
  ident: BFncomms15481_CR10
  publication-title: Curr. Opin. Cardiol.
  doi: 10.1097/01.hco.0000221578.18254.70
– volume: 9
  start-page: 179
  year: 2012
  ident: BFncomms15481_CR63
  publication-title: Nat. Methods
  doi: 10.1038/nmeth.1785
– volume: 275
  start-page: 235
  year: 2004
  ident: BFncomms15481_CR40
  publication-title: Dev. Biol.
  doi: 10.1016/j.ydbio.2004.08.008
– volume: 31
  start-page: 729
  year: 2013
  ident: BFncomms15481_CR70
  publication-title: Stem Cells
  doi: 10.1002/stem.1318
– volume: 9
  start-page: 976
  year: 2013
  ident: BFncomms15481_CR55
  publication-title: Arch. Med. Sci.
  doi: 10.5114/aoms.2013.39788
– volume: 139
  start-page: 3277
  year: 2012
  ident: BFncomms15481_CR16
  publication-title: Development
  doi: 10.1242/dev.063495
– volume: 81
  start-page: 559
  year: 2007
  ident: BFncomms15481_CR65
  publication-title: Am. J. Hum. Genet.Hum. Genet.
  doi: 10.1086/519795
– volume: 8
  start-page: e64496
  year: 2013
  ident: BFncomms15481_CR49
  publication-title: PLoS ONE
  doi: 10.1371/journal.pone.0064496
– volume: 8
  start-page: e62138
  year: 2013
  ident: BFncomms15481_CR50
  publication-title: PLoS ONE
  doi: 10.1371/journal.pone.0062138
– volume: 39
  start-page: 1890
  year: 2002
  ident: BFncomms15481_CR1
  publication-title: J. Am. Coll. Cardiol.
  doi: 10.1016/S0735-1097(02)01886-7
– ident: BFncomms15481_CR20
  doi: 10.1002/0471142905.hg0720s76
– volume: 4
  start-page: 1073
  year: 2009
  ident: BFncomms15481_CR21
  publication-title: Nat. Protoc.
  doi: 10.1038/nprot.2009.86
– volume: 155
  start-page: 219
  year: 1995
  ident: BFncomms15481_CR52
  publication-title: Gene
  doi: 10.1016/0378-1119(94)00893-W
– volume: 5
  start-page: e1000529
  year: 2009
  ident: BFncomms15481_CR66
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1000529
– volume: 23
  start-page: 6935
  year: 2014
  ident: BFncomms15481_CR18
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddu399
– volume: 41
  start-page: e201
  year: 2013
  ident: BFncomms15481_CR44
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gkt850
– volume: 55
  start-page: 2789
  year: 2010
  ident: BFncomms15481_CR5
  publication-title: J. Am. Coll. Cardiol.
  doi: 10.1016/j.jacc.2009.12.068
– volume: 150
  start-page: 513
  year: 2005
  ident: BFncomms15481_CR2
  publication-title: Am. Heart J.
  doi: 10.1016/j.ahj.2004.10.036
– volume: 526
  start-page: 68
  year: 2015
  ident: BFncomms15481_CR62
  publication-title: Nature
  doi: 10.1038/nature15393
– ident: BFncomms15481_CR23
  doi: 10.1038/ng.2653
– volume: 11
  start-page: 1048
  year: 1997
  ident: BFncomms15481_CR29
  publication-title: Genes Dev.
  doi: 10.1101/gad.11.8.1048
– volume: 108
  start-page: 1597
  year: 2011
  ident: BFncomms15481_CR36
  publication-title: Proc. Natl Acad. Sci. USA
  doi: 10.1073/pnas.1010257108
– volume: 142
  start-page: 28
  year: 2007
  ident: BFncomms15481_CR9
  publication-title: J. Surg. Res.
  doi: 10.1016/j.jss.2006.04.040
– volume: 31
  start-page: 3092
  year: 2015
  ident: BFncomms15481_CR45
  publication-title: Bioinformatics
  doi: 10.1093/bioinformatics/btv336
– volume: 5
  start-page: e8830
  year: 2010
  ident: BFncomms15481_CR14
  publication-title: PLoS ONE
  doi: 10.1371/journal.pone.0008830
– volume: 11
  start-page: 1061
  year: 1997
  ident: BFncomms15481_CR28
  publication-title: Genes Dev.
  doi: 10.1101/gad.11.8.1061
– volume: 159
  start-page: 1665
  year: 2014
  ident: BFncomms15481_CR46
  publication-title: Cell
  doi: 10.1016/j.cell.2014.11.021
– volume: 9
  start-page: 320
  year: 2016
  ident: BFncomms15481_CR56
  publication-title: Circ. Cardiovasc. Genet.
  doi: 10.1161/CIRCGENETICS.115.001324
– volume: 31
  start-page: 782
  year: 2015
  ident: BFncomms15481_CR64
  publication-title: Bioinformatics
  doi: 10.1093/bioinformatics/btu704
– volume: 95
  start-page: 645
  year: 2004
  ident: BFncomms15481_CR24
  publication-title: Circ. Res.
  doi: 10.1161/01.RES.0000141429.13560.cb
– volume: 28
  start-page: 557
  year: 2011
  ident: BFncomms15481_CR60
  publication-title: Int. J. Mol. Med.
– volume: 14
  start-page: 44
  year: 2013
  ident: BFncomms15481_CR13
  publication-title: BMC Med. Genet.
  doi: 10.1186/1471-2350-14-44
– volume: 489
  start-page: 57
  year: 2012
  ident: BFncomms15481_CR43
  publication-title: Nature
  doi: 10.1038/nature11247
– volume: 230
  start-page: 239
  year: 2004
  ident: BFncomms15481_CR25
  publication-title: Dev. Dyn
  doi: 10.1002/dvdy.20051
– volume: 51
  start-page: 527
  year: 2008
  ident: BFncomms15481_CR35
  publication-title: Eur. J. Med. Genet.
  doi: 10.1016/j.ejmg.2008.06.005
– volume: 46
  start-page: 310
  year: 2014
  ident: BFncomms15481_CR22
  publication-title: Nat. Genet.
  doi: 10.1038/ng.2892
– volume: 111
  start-page: 920
  year: 2005
  ident: BFncomms15481_CR8
  publication-title: Circulation
  doi: 10.1161/01.CIR.0000155623.48408.C5
– volume: 83
  start-page: 201
  year: 1999
  ident: BFncomms15481_CR30
  publication-title: Am. J. Med. Genet.
  doi: 10.1002/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V
– volume: 22
  start-page: 1473
  year: 2013
  ident: BFncomms15481_CR48
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/dds552
– volume: 17
  start-page: 2886
  year: 2008
  ident: BFncomms15481_CR15
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddn187
– volume: 34
  start-page: 737
  year: 2014
  ident: BFncomms15481_CR26
  publication-title: Arterioscler. Thromb. Vasc. Biol.
  doi: 10.1161/ATVBAHA.113.302071
– volume: 167
  start-page: 1734
  year: 2016
  ident: BFncomms15481_CR53
  publication-title: Cell
  doi: 10.1016/j.cell.2016.11.033
– volume: 46
  start-page: 1729
  year: 2013
  ident: BFncomms15481_CR47
  publication-title: J. Biomech.
  doi: 10.1016/j.jbiomech.2013.03.029
– volume: 9
  start-page: 215
  year: 2012
  ident: BFncomms15481_CR68
  publication-title: Nat. Methods
  doi: 10.1038/nmeth.1906
– volume: 135
  start-page: 47
  year: 2005
  ident: BFncomms15481_CR54
  publication-title: Am. J. Med. Genet. A
  doi: 10.1002/ajmg.a.30684
– volume: 121
  start-page: 275
  year: 2007
  ident: BFncomms15481_CR12
  publication-title: Hum. Genet.
  doi: 10.1007/s00439-006-0316-9
– volume: 22
  start-page: 4241
  year: 2013
  ident: BFncomms15481_CR69
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddt275
– volume: 306
  start-page: 1104
  year: 2011
  ident: BFncomms15481_CR6
  publication-title: JAMA
  doi: 10.1001/jama.2011.1286
– volume: 76
  start-page: 211
  year: 2014
  ident: BFncomms15481_CR37
  publication-title: Pediatr. Res.
  doi: 10.1038/pr.2014.67
– volume: 53
  start-page: 277
  year: 2012
  ident: BFncomms15481_CR38
  publication-title: J. Mol. Cell Cardiol.
  doi: 10.1016/j.yjmcc.2012.05.009
– volume: 133
  start-page: 3607
  year: 2006
  ident: BFncomms15481_CR27
  publication-title: Development
  doi: 10.1242/dev.02519
– volume: 8
  start-page: 2281
  year: 2013
  ident: BFncomms15481_CR51
  publication-title: Nat. Protoc.
  doi: 10.1038/nprot.2013.143
– volume: 34
  start-page: 1662
  year: 2013
  ident: BFncomms15481_CR61
  publication-title: Hum. Mutat.
  doi: 10.1002/humu.22434
– volume: 83
  start-page: 81
  year: 2000
  ident: BFncomms15481_CR4
  publication-title: Heart
  doi: 10.1136/heart.83.1.81
– volume: 16
  start-page: 7
  year: 2015
  ident: BFncomms15481_CR57
  publication-title: BMC Med. Genet.
  doi: 10.1186/s12881-015-0152-7
– volume: 48
  start-page: 1279
  year: 2016
  ident: BFncomms15481_CR17
  publication-title: Nat. Genet.
  doi: 10.1038/ng.3643
– volume: 121
  start-page: 2876
  year: 2011
  ident: BFncomms15481_CR39
  publication-title: J. Clin. Invest.
  doi: 10.1172/JCI44555
– volume: 44
  start-page: 138
  year: 2004
  ident: BFncomms15481_CR11
  publication-title: J. Am. Coll. Cardiol.
  doi: 10.1016/j.jacc.2004.03.050
– volume: 44
  start-page: 779
  year: 2007
  ident: BFncomms15481_CR34
  publication-title: J. Med. Genet.
  doi: 10.1136/jmg.2007.052183
– volume: 2012
  start-page: 145202
  year: 2012
  ident: BFncomms15481_CR3
  publication-title: Cardiol. Res. Pract.
  doi: 10.1155/2012/145202
– volume: 42
  start-page: e16
  year: 2005
  ident: BFncomms15481_CR33
  publication-title: J. Med. Genet.
  doi: 10.1136/jmg.2004.026740
– volume: 22
  start-page: 1790
  year: 2012
  ident: BFncomms15481_CR42
  publication-title: Genome Res.
  doi: 10.1101/gr.137323.112
– volume: 40
  start-page: D930
  year: 2012
  ident: BFncomms15481_CR41
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gkr917
– volume: 39
  start-page: 906
  year: 2007
  ident: BFncomms15481_CR67
  publication-title: Nat. Genet.
  doi: 10.1038/ng2088
– volume: 117
  start-page: 2776
  year: 2008
  ident: BFncomms15481_CR7
  publication-title: Circulation
  doi: 10.1161/CIRCULATIONAHA.107.740878
SSID ssj0000391844
Score 2.5233223
Snippet Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide...
Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV...
SourceID doaj
pubmedcentral
proquest
pubmed
crossref
springer
SourceType Open Website
Open Access Repository
Aggregation Database
Index Database
Enrichment Source
Publisher
StartPage 15481
SubjectTerms 13
13/89
14
45
45/43
631/208/205/2138
631/208/4041/3196
692/4019/592/2727
692/699/75/1539
82/80
Amino Acid Substitution
Anesthesiology
Aortic Valve - abnormalities
Aortic Valve - embryology
Aortic Valve - metabolism
Bicuspid Aortic Valve Disease
Case-Control Studies
Cell Transdifferentiation - genetics
CRISPR
CRISPR-Cas Systems
Female
GATA4 Transcription Factor - deficiency
GATA4 Transcription Factor - genetics
GATA4 Transcription Factor - metabolism
Gene Regulatory Networks
Genetic variance
Genetic Variation
Genome-Wide Association Study
Genomes
Heart
Heart Defects, Congenital - genetics
Heart Valve Diseases - embryology
Heart Valve Diseases - genetics
Heart Valve Diseases - metabolism
Hospitals
Humanities and Social Sciences
Humans
Induced Pluripotent Stem Cells - metabolism
Induced Pluripotent Stem Cells - pathology
Internal medicine
Male
Medicine
multidisciplinary
Mutation, Missense
Phenotype
Proteins
Risk factors
RNA, Untranslated - genetics
Science
Science (multidisciplinary)
Stem cells
Surgery
Transcription factors
SummonAdditionalLinks – databaseName: Biological Science Database
  dbid: M7P
  link: http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Lb9QwEB5BgYoLj0IhUJCRygUpauI4tnNCC6JwgGoPBfUW-RWIVJwl2V2p_x7b8YYurbhwtZ1okpnxzHjG3wAcitxkkgqR5tRFOkTQIhWs0akPNxg2DZGh89y3z-zkhJ-dVfN44DbEssrNnhg2at0pf0Z-5AwXzirnH_C3i1-p7xrls6uxhcZNuOVREnAo3ZtPZywe_ZwTEq_lZQU_su6VPwfvpudbhijg9V_nZF6tlfwrYRrs0PH9__2CB3AveqBoNorMQ7hh7B7cGXtSXuzB7peYbX8E9dyDOLQ2DSl1Rw0SVqN-7F7f9RfICZ-_A4nWLuD29TTIOr1BH2enM4LaWKpuNGotkq1aDYtWI9H14xPna_MYvh5_OH3_KY0NGVJFc7pMhZKGSVZiWQiNVeMsGWEsy5vCUFVhWZVNZjAVxJRF0zCMm4oryQhX3Gijq2IfdmxnzVNAjYsTswoL5caJ0ZxrjctG8oop55JQmsCbDXdqFdHKfdOM8zpkzQteX2JlAofT4sUI0nH9sneezdMSj6wdBrr-ex0VtWaEEl5orknh9jdJpOSMKEpLJ7xEMJzAwYa7dVT3of7D2gReTdNOUX32RVjTrcY1xPtfLIEno0xNlPhrrDlmjkK2JW1bpG7P2PZHAAP3iU_nZCfweiOXl8i6-g-e_Zv853AXe78lK1NcHsDOsl-ZF3BbrZft0L8M2vUbDiIx4A
  priority: 102
  providerName: ProQuest
Title Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
URI https://link.springer.com/article/10.1038/ncomms15481
https://www.ncbi.nlm.nih.gov/pubmed/28541271
https://www.proquest.com/docview/1902098518
https://www.proquest.com/docview/1902481907
https://pubmed.ncbi.nlm.nih.gov/PMC5458508
https://doaj.org/article/746483d8d43040b4bb874c6651724a72
Volume 8
WOSCitedRecordID wos000401964900001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
journalDatabaseRights – providerCode: PRVAON
  databaseName: DOAJ Directory of Open Access Journals
  customDbUrl:
  eissn: 2041-1723
  dateEnd: 99991231
  omitProxy: false
  ssIdentifier: ssj0000391844
  issn: 2041-1723
  databaseCode: DOA
  dateStart: 20150101
  isFulltext: true
  titleUrlDefault: https://www.doaj.org/
  providerName: Directory of Open Access Journals
– providerCode: PRVHPJ
  databaseName: ROAD: Directory of Open Access Scholarly Resources
  customDbUrl:
  eissn: 2041-1723
  dateEnd: 99991231
  omitProxy: false
  ssIdentifier: ssj0000391844
  issn: 2041-1723
  databaseCode: M~E
  dateStart: 20100101
  isFulltext: true
  titleUrlDefault: https://road.issn.org
  providerName: ISSN International Centre
– providerCode: PRVPQU
  databaseName: Advanced Technologies & Aerospace Database
  customDbUrl:
  eissn: 2041-1723
  dateEnd: 99991231
  omitProxy: false
  ssIdentifier: ssj0000391844
  issn: 2041-1723
  databaseCode: P5Z
  dateStart: 20100101
  isFulltext: true
  titleUrlDefault: https://search.proquest.com/hightechjournals
  providerName: ProQuest
– providerCode: PRVPQU
  databaseName: Biological Science Database
  customDbUrl:
  eissn: 2041-1723
  dateEnd: 99991231
  omitProxy: false
  ssIdentifier: ssj0000391844
  issn: 2041-1723
  databaseCode: M7P
  dateStart: 20100101
  isFulltext: true
  titleUrlDefault: http://search.proquest.com/biologicalscijournals
  providerName: ProQuest
– providerCode: PRVPQU
  databaseName: Health & Medical Collection
  customDbUrl:
  eissn: 2041-1723
  dateEnd: 99991231
  omitProxy: false
  ssIdentifier: ssj0000391844
  issn: 2041-1723
  databaseCode: 7X7
  dateStart: 20100101
  isFulltext: true
  titleUrlDefault: https://search.proquest.com/healthcomplete
  providerName: ProQuest
– providerCode: PRVPQU
  databaseName: ProQuest Central
  customDbUrl:
  eissn: 2041-1723
  dateEnd: 99991231
  omitProxy: false
  ssIdentifier: ssj0000391844
  issn: 2041-1723
  databaseCode: BENPR
  dateStart: 20100101
  isFulltext: true
  titleUrlDefault: https://www.proquest.com/central
  providerName: ProQuest
– providerCode: PRVPQU
  databaseName: Publicly Available Content Database
  customDbUrl:
  eissn: 2041-1723
  dateEnd: 99991231
  omitProxy: false
  ssIdentifier: ssj0000391844
  issn: 2041-1723
  databaseCode: PIMPY
  dateStart: 20100101
  isFulltext: true
  titleUrlDefault: http://search.proquest.com/publiccontent
  providerName: ProQuest
link http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1LixQxEA66KngR37auQ4T1IjTbnU7ncZyVXRV0aGSV0UuTJzasmWVesP_eSrpnmHEXvHjJIUk3ReVL8hVVqULoSJWu0EypvGRg6VDFqlxxb_NobnDiPNWp8tz3z3wyEdOpbHZKfcWYsD49cK-4Y04ZFZUVloLhXWiqteDUMFbDz6ji6fQtuNwxptIZXEkwXejwIK-oxHGABfy9iAS93LuCUqb-m-jl9SjJv1yl6QY6e4geDNQRj3uRH6FbLjxG9_pikldPUNvElAtdyJMDHP6AVbB43tean82vMEAlvljEazCPY_QLDoBy_GF8Pqa4GwLLncVdwLozq8VlZ7GazfsvLtbuKfp2dnr-_mM-lE_IDSvZMldGO655TXSlLDEe7h3KeVH6yjEjiZa1Lxxhirq68p4T4qUwmlNhhLPOyuoZOgiz4F4g7MGqKyRRBvqps0JYS2qvheQGCARjGXq30WhrhtziscTFRZt83JVod9SfoaPt5Ms-pcbN007i0mynxDzYqQPQ0Q7oaP-Fjgwdbha2HTbnogUORAoJVFNk6M12GLZV9JWo4Garfg6NbIln6HmPg60k8dFpSThIyPcQsifq_kjofqXU3dFNCZQ4Q283WNoR67oOXv4PHbxC90nkIkWdk_oQHSznK_ca3TXrZbeYj9BtPuWpFSN05-R00nwdpb00imGwDbRN_RNGmk9fmh9_AL61JeA
linkProvider Directory of Open Access Journals
linkToHtml http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwELaqLa8Lj_IKFDBSe0GKmjiO7RwQWh6lq-6u9rCgcgp-pUQqzpLsLto_xW_EzmPp0opbD1ztiTTjfDOescczAOzxUAeCcO6HxEY6mJPI5zRTvgs3KNIZFnXnuc9DOh6zk5NksgV-dW9hXFplZxNrQ60K6c7ID-zGhYLE-gfszeyH77pGudvVroVGA4tjvfppQ7bq9eC9_b_7CB1-mL478tuuAr4kIZn7XApNBY2RiLhCMrPmGFMahFmkiUyQSOIs0IhwrOMoyyhCWcKkoJhJppVWrviSNfnb2IG9B7Yng9Hky_pUx9VbZxi3DwGDiB0YK8T3ygUG4cbWV3cIuMytvZid-dcVbb3zHd7539bsLrjd-tiw3yjFPbClzQ643nTdXO2AG6M2n-A-SCeuTEVu_DppwEoPuVGw1KeuqVlRrqBVL_fKEy65VVQzr6Cx4sCP_Wkfw7xNxtcK5gaKXC6qWa4gL8rmi7OlfgA-XYmgD0HPFEY_BjCzkXCQIC7tONaKMaVQnAmWUGmdLkI88KpDQyrbeuyuLchZWucFRCw9Bx0P7K2JZ00ZksvJ3jpYrUlc7fB6oChP09YUpRQTzCLFFI6sBRdYCEaxJCS26ok5RR7Y7dCUtgatSv9AyQMv19PWFLn7JW50sWhosPMwqQceNRhec-Ie6oaIWg7pBro3WN2cMfm3uty5u9q1YYQH9js9OMfWxTV48m_2X4CbR9PRMB0OxsdPwS3kvLQg9lG8C3rzcqGfgWtyOc-r8nmr2xB8vWrV-A0cp5KP
linkToPdf http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwELaqAhUXHuUVKGCk9oIUbeI4sXNAaKEsVC2rPRRUcQl-lkglWZLdRfvX-HWM81i6tOLWA1fbkcbON-MZzwuhXRGaQCZC-GEClg4VSeQLZrXvzA1GjKWy6Tz3-YiNx_zkJJ1soF99LowLq-xlYiOodancG_kALi4SpKAf8IHtwiIm-6PX0x--6yDlPK19O40WIodm-RPMt_rVwT786z1CRu-O337wuw4DvkrCZOYLJQ2TLCYyEpooC6KZMhaENjKJSolMYxsYkghq4shaRohNuZKMcsWNNtoVYgLxf42BjenCCSfxl9X7jqu8zintUgKDiA8K2M732pkI4dol2PQKuEzBvRin-ZeztrkDR7f_59O7g251mjcetqxyF22YYhvdaHtxLrfR1scuyuAeyiaueEVe-E0oAZwEFoXGlTl1rc7KaomB6VzuJ14IYN9iVuMCtoPfD4-HFOddiL7ROC-wzNW8nuYai7JqvzhbmPvo05Vs9AHaLMrCPELYgn0cpEQoGKdGc641ia3kKVOgiiWJh172yMhUV6XdNQs5y5pogYhn52Dkod3V4mlbnOTyZW8cxFZLXEXxZqCsTrNOQGWAYcojzTWNQK5LKiVnVCVJDExLBSMe2umRlXVirs7-wMpDL1bTIKCc10kUppy3a6jTO5mHHrZ4XlHi0ndDwoBCtob0NVLXZ4r8W1ME3Tl8wbjw0F7PE-fIungGj_9N_nO0BfyQHR2MD5-gm8SpbkHsk3gHbc6quXmKrqvFLK-rZw2TY_T1qvniN1osmfI
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Protein-altering+and+regulatory+genetic+variants+near+GATA4+implicated+in+bicuspid+aortic+valve&rft.jtitle=Nature+communications&rft.au=Yang%2C+Bo&rft.au=Zhou%2C+Wei&rft.au=Jiao%2C+Jiao&rft.au=Nielsen%2C+Jonas+B&rft.date=2017-05-25&rft.eissn=2041-1723&rft.volume=8&rft.spage=15481&rft_id=info:doi/10.1038%2Fncomms15481&rft_id=info%3Apmid%2F28541271&rft.externalDocID=28541271
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2041-1723&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2041-1723&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2041-1723&client=summon