Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity

Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Clinical genetics Jg. 95; H. 3; S. 356 - 367
Hauptverfasser:	Richard, Pascale, Ader, Flavie, Roux, Maguelonne, Donal, Erwan, Eicher, Jean‐Christophe, Aoutil, Nadia, Huttin, Olivier, Selton‐Suty, Christine, Coisne, Damien, Jondeau, Guillaume, Damy, Thibaud, Mansencal, Nicolas, Casalta, Anne‐Claire, Michel, Nicolas, Haentjens, Julie, Faivre, Laurence, Lavoute, Cecile, Nguyen, Karine, Tregouët, David‐Alexandre, Habib, Gilbert, Charron, Philippe
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	Oxford, UK Blackwell Publishing Ltd 01.03.2019 Wiley
Schlagworte:	Cardiology and cardiovascular system Cardiomyopathy Compaction Dilated cardiomyopathy Genetic counseling Genetics Genotypes Human genetics Human health and pathology Ion channels (cyclic nucleotide-gated) left ventricular non‐compaction Life Sciences molecular genetic Mutation next generation sequencing Phenotypes Populations and Evolution Ryanodine receptors Ventricle left ventricular non-compaction cardiomyopathy next generation sequencing molecular genetic
ISSN:	0009-9163, 1399-0004, 1399-0004
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Abstract	Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty‐two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were TTN, then HCN4, MYH7, and RYR2. The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes. Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant TTN null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as HCN4. We also identified new candidate genes that could be involved in this sub‐phenotype of cardiomyopathy.
AbstractList	Left ventricular non-compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty-two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were TTN, then HCN4, MYH7, and RYR2. The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes. Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant TTN null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as HCN4. We also identified new candidate genes that could be involved in this sub-phenotype of cardiomyopathy. Left ventricular non-compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty-two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were TTN, then HCN4, MYH7, and RYR2. The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes. Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant TTN null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as HCN4. We also identified new candidate genes that could be involved in this sub-phenotype of cardiomyopathy.Left ventricular non-compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty-two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were TTN, then HCN4, MYH7, and RYR2. The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes. Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant TTN null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as HCN4. We also identified new candidate genes that could be involved in this sub-phenotype of cardiomyopathy. Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty‐two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were TTN , then HCN4, MYH7, and RYR2 . The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes. Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant TTN null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as HCN4 . We also identified new candidate genes that could be involved in this sub‐phenotype of cardiomyopathy. Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty‐two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were TTN, then HCN4, MYH7, and RYR2. The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes. Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant TTN null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as HCN4. We also identified new candidate genes that could be involved in this sub‐phenotype of cardiomyopathy.
Author	Charron, Philippe Tregouët, David‐Alexandre Nguyen, Karine Casalta, Anne‐Claire Ader, Flavie Roux, Maguelonne Huttin, Olivier Aoutil, Nadia Eicher, Jean‐Christophe Selton‐Suty, Christine Haentjens, Julie Donal, Erwan Coisne, Damien Jondeau, Guillaume Damy, Thibaud Faivre, Laurence Mansencal, Nicolas Habib, Gilbert Richard, Pascale Michel, Nicolas Lavoute, Cecile
Author_xml	– sequence: 1 givenname: Pascale orcidid: 0000-0002-2390-3005 surname: Richard fullname: Richard, Pascale email: pascale.richard@aphp.fr organization: Sorbonne Universités, UPMC Univ. Paris 06, INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition – sequence: 2 givenname: Flavie surname: Ader fullname: Ader, Flavie organization: APHP, Functional Unit of Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié‐Salpêtrière‐Charles Foix – sequence: 3 givenname: Maguelonne surname: Roux fullname: Roux, Maguelonne organization: Sorbonne Universités, UPMC Univ. Paris 06, INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition – sequence: 4 givenname: Erwan surname: Donal fullname: Donal, Erwan organization: Centre Hospitalier Régional Universitaire Pontchaillou – sequence: 5 givenname: Jean‐Christophe surname: Eicher fullname: Eicher, Jean‐Christophe organization: CHU Dijon Bourgogne ‐ Hôpital François Mitterrand, 2 bd Maréchal de Lattre de Tassigny – sequence: 6 givenname: Nadia surname: Aoutil fullname: Aoutil, Nadia organization: APHP, Functional Unit of Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié‐Salpêtrière‐Charles Foix – sequence: 7 givenname: Olivier surname: Huttin fullname: Huttin, Olivier organization: CHU de Nancy, Hôpitaux de Brabois, rue du Morvan – sequence: 8 givenname: Christine surname: Selton‐Suty fullname: Selton‐Suty, Christine organization: CHU de Nancy, Hôpitaux de Brabois, rue du Morvan – sequence: 9 givenname: Damien surname: Coisne fullname: Coisne, Damien organization: CHU de Poitiers – sequence: 10 givenname: Guillaume surname: Jondeau fullname: Jondeau, Guillaume organization: APHP, Service Cardiologie, CHU Paris Nord‐Val de Seine ‐ Hôpital Xavier Bichat‐Claude Bernard – sequence: 11 givenname: Thibaud surname: Damy fullname: Damy, Thibaud organization: CHU Henri Mondor – sequence: 12 givenname: Nicolas surname: Mansencal fullname: Mansencal, Nicolas organization: CHU Ambroise Paré – sequence: 13 givenname: Anne‐Claire surname: Casalta fullname: Casalta, Anne‐Claire organization: APHM, La Timone Hospital – sequence: 14 givenname: Nicolas surname: Michel fullname: Michel, Nicolas organization: APHM, La Timone Hospital – sequence: 15 givenname: Julie surname: Haentjens fullname: Haentjens, Julie organization: APHM, La Timone Hospital – sequence: 16 givenname: Laurence surname: Faivre fullname: Faivre, Laurence organization: CHU Dijon Bourgogne ‐ Hôpital François Mitterrand – sequence: 17 givenname: Cecile surname: Lavoute fullname: Lavoute, Cecile organization: APHM, La Timone Hospital – sequence: 18 givenname: Karine surname: Nguyen fullname: Nguyen, Karine organization: APHM, La Timone Hospital – sequence: 19 givenname: David‐Alexandre surname: Tregouët fullname: Tregouët, David‐Alexandre organization: Sorbonne Universités, UPMC Univ. Paris 06, INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition – sequence: 20 givenname: Gilbert surname: Habib fullname: Habib, Gilbert organization: Aix Marseille Univ, IRD, APHM, MEPHI, IHU‐Méditerranée Infection – sequence: 21 givenname: Philippe surname: Charron fullname: Charron, Philippe organization: Université de Versailles Saint Quentin, Service de Génétique, Hôpital Ambroise Paré
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/30471092$$D View this record in MEDLINE/PubMed https://hal.sorbonne-universite.fr/hal-02055778$$DView record in HAL
BookMark	eNp1kc1uEzEQxy1URNPCgRdAlrjAYVt_7dexikqLFIlLOVuOdzZx5XiD7U2bG4_AM_IkzJK0SAh8GY39m_94_nNGTsIQgJC3nF1wPJd2BRdcqka9IDMu27ZgjKkTMsPQFi2v5Ck5S-keU1mX7StyKpmqOWvFjDzembiCDB3dmgCeJvg2QrAurKgL1HSjz_iSHYSc6IPLa-qhz3SHeXR29CZS_MzP7z_ssNkam90QaIQdGJ-ooX4SpysIkJ2la-wThylzef-avOwRgjfHeE6-frq-m98Wiy83n-dXi8IqIVQhZaWUZFIpxZjhwpjGClOVEnolJTdLuay7lquqLfuq7XnHlGhE3yjgrOzqpTwnHw-6a-P1NrqNiXs9GKdvrxZ6umOClWVdNzuO7IcDu40D2pCy3rhkwXu0ZhiTFlzWaJySDaLv_0LvhzEGnASpRiAhywqpd0dqXG6ge-7_5D8ClwfAxiGlCL22LpvJxRyN85ozPW1Y44b17w3_mee54kn0X-xR_cF52P8f1POb60PFL6yHtGM
CitedBy_id	crossref_primary_10_3389_fped_2023_1195222 crossref_primary_10_1016_j_ijcard_2019_12_001 crossref_primary_10_1093_eurheartj_ehac262 crossref_primary_10_1161_CIRCGEN_123_004355 crossref_primary_10_3390_ijms22136775 crossref_primary_10_1093_cvr_cvaf089 crossref_primary_10_1016_j_hrthm_2025_02_030 crossref_primary_10_1016_j_cjca_2020_05_021 crossref_primary_10_1111_cge_14679 crossref_primary_10_3390_genes13081334 crossref_primary_10_1016_j_jbc_2021_101449 crossref_primary_10_3389_fcvm_2023_1205787 crossref_primary_10_3390_biomedicines11092447 crossref_primary_10_4103_rcm_rcm_14_22 crossref_primary_10_1186_s13023_021_02112_9 crossref_primary_10_3389_fcvm_2022_856160 crossref_primary_10_1002_acn3_51031 crossref_primary_10_1007_s00424_020_02384_3 crossref_primary_10_1007_s10741_021_10128_3 crossref_primary_10_1016_j_mcna_2023_06_016 crossref_primary_10_1161_CIRCGEN_123_004285 crossref_primary_10_1007_s40291_021_00530_w crossref_primary_10_1097_01_JAA_0000000000000158 crossref_primary_10_3390_cimb46040207 crossref_primary_10_1002_ehf2_13694 crossref_primary_10_7759_cureus_8787 crossref_primary_10_3390_genes13030477 crossref_primary_10_1186_s12859_023_05451_5 crossref_primary_10_1136_heartjnl_2020_316945 crossref_primary_10_1002_ajmg_c_31766 crossref_primary_10_1002_ajmg_a_62685 crossref_primary_10_15829_1560_4071_2020_4115 crossref_primary_10_1007_s10741_024_10416_8 crossref_primary_10_1111_cge_14333 crossref_primary_10_1016_j_cardfail_2021_01_007 crossref_primary_10_3390_cardiogenetics13030012 crossref_primary_10_1016_j_radcr_2024_03_011 crossref_primary_10_1016_j_str_2020_09_013 crossref_primary_10_1097_CRD_0000000000000656 crossref_primary_10_1093_humrep_deac057 crossref_primary_10_7759_cureus_30830 crossref_primary_10_1002_ccr3_70583 crossref_primary_10_1159_000510439 crossref_primary_10_3389_fcvm_2020_617561 crossref_primary_10_17816_cardar567837 crossref_primary_10_1016_j_jaccas_2020_05_072 crossref_primary_10_3389_fcvm_2024_1337378 crossref_primary_10_1097_HCO_0000000000000844 crossref_primary_10_1093_europace_euac030 crossref_primary_10_1002_joa3_12717 crossref_primary_10_1002_ccr3_6139 crossref_primary_10_1002_ped4_12184 crossref_primary_10_1016_j_hrthm_2022_03_1225 crossref_primary_10_3389_fgene_2020_593688
Cites_doi	10.1016/S0140-6736(14)61282-4 10.1136/heart.86.6.666 10.1016/j.jacc.2005.03.045 10.1111/cge.12780 10.1136/heartjnl-2014-306387 10.1007/s00246-016-1404-9 10.1038/gim.2016.90 10.1016/j.jacc.2014.05.045 10.1007/s00380-014-0503-x 10.1016/j.ajhg.2013.05.015 10.1161/CIRCULATIONAHA.107.746164 10.1038/nrcardio.2017.190 10.1093/eurheartj/ehx819 10.1002/ajmg.a.20075 10.1056/NEJMoa1110186 10.1086/514879 10.1093/bioinformatics/btp324 10.1038/ng.2892 10.1161/CIRCULATIONAHA.106.174287 10.1101/gr.107524.110 10.1016/j.jacc.2016.10.085 10.1093/eurheartj/ehm342 10.1161/CIRCGENETICS.110.959270 10.1093/bioinformatics/btp352 10.1111/j.1540-8175.2007.00560.x 10.1093/bioinformatics/btr507 10.1093/eurheartj/ehu301 10.1161/CIRCGENETICS.116.001431 10.1093/europace/eut382 10.1161/01.CIR.0000100664.10777.B8 10.1016/j.ymgme.2007.10.009 10.1016/j.jacc.2017.12.019 10.1093/nar/gkq603 10.1038/gim.2015.30 10.1371/journal.pone.0181465 10.1016/j.ymgme.2005.11.009 10.1016/j.mcp.2015.05.004 10.1093/eurjhf/hfq225 10.1093/eurheartj/ehx545 10.1007/s00392-011-0345-9
ContentType	Journal Article
Copyright	2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd licence_http://creativecommons.org/publicdomain/zero
Copyright_xml	– notice: 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd – notice: 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. – notice: 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd – notice: licence_http://creativecommons.org/publicdomain/zero
DBID	AAYXX CITATION NPM 7TK 8FD FR3 K9. P64 RC3 7X8 1XC VOOES
DOI	10.1111/cge.13484
DatabaseName	CrossRef PubMed Neurosciences Abstracts Technology Research Database Engineering Research Database ProQuest Health & Medical Complete (Alumni) Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic Hyper Article en Ligne (HAL) Hyper Article en Ligne (HAL) (Open Access)
DatabaseTitle	CrossRef PubMed ProQuest Health & Medical Complete (Alumni) Genetics Abstracts Engineering Research Database Technology Research Database Neurosciences Abstracts Biotechnology and BioEngineering Abstracts MEDLINE - Academic
DatabaseTitleList	PubMed MEDLINE - Academic ProQuest Health & Medical Complete (Alumni) CrossRef
Database_xml	– sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: 7X8 name: MEDLINE - Academic url: https://search.proquest.com/medline sourceTypes: Aggregation Database
DeliveryMethod	fulltext_linktorsrc
Discipline	Medicine Biology
EISSN	1399-0004
EndPage	367
ExternalDocumentID	oai:HAL:hal-02055778v1 30471092 10_1111_cge_13484 CGE13484
Genre	article Journal Article
GrantInformation_xml	– fundername: AP‐HM, Assistance Publique‐ Hopitaux de Marseille funderid: PHRC 2011‐A ‐ 00987‐34 – fundername: GENMED Laboratory of Excellence on Medical Genomics funderid: ANR‐10‐LABX‐0013 – fundername: Fondation pour la Recherche Médicale – fundername: GENMED Laboratory of Excellence on Medical Genomics grantid: ANR-10-LABX-0013 – fundername: AP-HM, Assistance Publique- Hopitaux de Marseille grantid: PHRC 2011-A - 00987-34
GroupedDBID	--- .3N .GA .GJ .Y3 05W 0R~ 10A 1OB 1OC 29B 31~ 33P 36B 3O- 3SF 4.4 50Y 50Z 51W 51X 52M 52N 52O 52P 52R 52S 52T 52U 52V 52W 52X 53G 5GY 5HH 5LA 5RE 5VS 66C 6J9 702 7PT 8-0 8-1 8-3 8-4 8-5 8UM 930 A01 A03 AAESR AAEVG AAHQN AAIPD AAKAS AAMMB AAMNL AANHP AANLZ AAONW AAQQT AASGY AAXRX AAYCA AAZKR ABCQN ABCUV ABEML ABJNI ABPPZ ABPVW ABQWH ABXGK ACAHQ ACBWZ ACCZN ACFBH ACGFS ACGOF ACMXC ACPOU ACPRK ACRPL ACSCC ACXBN ACXQS ACYXJ ADBBV ADBTR ADEOM ADIZJ ADKYN ADMGS ADNMO ADOZA ADXAS ADZCM ADZMN AEFGJ AEGXH AEIGN AEIMD AENEX AEUYR AEYWJ AFBPY AFEBI AFFNX AFFPM AFGKR AFWVQ AFZJQ AGHNM AGQPQ AGXDD AGYGG AHBTC AHEFC AI. AIACR AIDQK AIDYY AIQQE AITYG AIURR ALAGY ALMA_UNASSIGNED_HOLDINGS ALUQN ALVPJ AMBMR AMYDB ASPBG ATUGU AVWKF AZBYB AZFZN AZVAB BAFTC BDRZF BFHJK BHBCM BMXJE BROTX BRXPI BY8 C45 CAG COF CS3 D-6 D-7 D-E D-F DCZOG DPXWK DR2 DRFUL DRMAN DRSTM DU5 DUUFO EBS EJD EMOBN EX3 F00 F01 F04 F5P FEDTE FUBAC FZ0 G-S G.N GODZA H.X HF~ HGLYW HVGLF HZI HZ~ IH2 IHE IX1 J0M K48 KBYEO L7B LATKE LC2 LC3 LEEKS LH4 LITHE LOXES LP6 LP7 LUTES LW6 LYRES MEWTI MK4 MRFUL MRMAN MRSTM MSFUL MSMAN MSSTM MXFUL MXMAN MXSTM N04 N05 N9A NF~ O66 O9- OBC OBS OIG OVD P2W P2X P2Z P4B P4D PALCI PQQKQ Q.N Q11 QB0 R.K RIWAO RJQFR ROL RX1 SAMSI SUPJJ TEORI UB1 V8K VH1 W8V W99 WBKPD WIH WIJ WIK WNSPC WOHZO WOW WQJ WXI WXSBR WYISQ XG1 YOC YUY ZGI ZXP ZZTAW ~IA ~WT AAYXX CITATION O8X NPM 7TK 8FD FR3 K9. P64 RC3 7X8 1XC VOOES
ID	FETCH-LOGICAL-c4224-3364430344400a12aa8c2a653ef4331ab3b7d914695f69f1d04282f84e105d7b3
IEDL.DBID	DRFUL
ISICitedReferencesCount	60
ISICitedReferencesURI	http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000458956100002&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
ISSN	0009-9163 1399-0004
IngestDate	Tue Nov 25 06:20:54 EST 2025 Fri Sep 05 06:44:20 EDT 2025 Fri Oct 03 07:50:37 EDT 2025 Mon Jul 21 05:55:19 EDT 2025 Sat Nov 29 03:36:24 EST 2025 Tue Nov 18 21:31:33 EST 2025 Tue Nov 11 03:08:21 EST 2025
IsDoiOpenAccess	true
IsOpenAccess	true
IsPeerReviewed	true
IsScholarly	true
Issue	3
Keywords	left ventricular non-compaction cardiomyopathy next generation sequencing molecular genetic
Language	English
License	2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. licence_http://creativecommons.org/publicdomain/zero/: http://creativecommons.org/publicdomain/zero
LinkModel	DirectLink
MergedId	FETCHMERGED-LOGICAL-c4224-3364430344400a12aa8c2a653ef4331ab3b7d914695f69f1d04282f84e105d7b3
Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ORCID	0000-0002-2390-3005 0000-0001-7552-3920 0000-0003-4058-3848 0000-0001-5500-1535 0000-0002-7801-7457 0000-0002-1782-1118 0000-0002-2549-679X 0000-0002-3775-0003 0000-0003-3899-9983 0000-0002-6889-3891 0000-0003-2677-3389 0000-0001-9770-444X 0000-0002-9083-1582
OpenAccessLink	https://hal.sorbonne-universite.fr/hal-02055778
PMID	30471092
PQID	2182383356
PQPubID	32479
PageCount	13
ParticipantIDs	hal_primary_oai_HAL_hal_02055778v1 proquest_miscellaneous_2137471438 proquest_journals_2182383356 pubmed_primary_30471092 crossref_citationtrail_10_1111_cge_13484 crossref_primary_10_1111_cge_13484 wiley_primary_10_1111_cge_13484_CGE13484
PublicationCentury	2000
PublicationDate	March 2019
PublicationDateYYYYMMDD	2019-03-01
PublicationDate_xml	– month: 03 year: 2019 text: March 2019
PublicationDecade	2010
PublicationPlace	Oxford, UK
PublicationPlace_xml	– name: Oxford, UK – name: Denmark – name: Malden
PublicationTitle	Clinical genetics
PublicationTitleAlternate	Clin Genet
PublicationYear	2019
Publisher	Blackwell Publishing Ltd Wiley
Publisher_xml	– name: Blackwell Publishing Ltd – name: Wiley
References	2009; 25 2015; 36 2003; 119 2010; 38 2015; 17 1997; 61 2012; 366 2017; 69 2015; 386 2015; 30 2015; 101 2013; 93 2014; 46 2011; 13 2011; 4 2018; 20 2008; 93 2016; 37 2001; 86 2005; 46 2006; 113 2014; 64 2016; 7 2017; 30 2010; 20 2018; 39 2003; 108 2017; 91 2015; 29 2013; 2013 2006; 88 2017; 38 2008; 29 2017; 12 2008; 25 2014; 16 2008; 117 2017; 19 2011; 27 2018; 15 2011; 100 e_1_2_7_6_1 e_1_2_7_5_1 e_1_2_7_4_1 e_1_2_7_3_1 e_1_2_7_9_1 e_1_2_7_8_1 e_1_2_7_7_1 Walsh R (e_1_2_7_27_1) 2017; 38 e_1_2_7_19_1 e_1_2_7_18_1 e_1_2_7_16_1 Wang C (e_1_2_7_17_1) 2017; 30 e_1_2_7_40_1 e_1_2_7_2_1 e_1_2_7_15_1 e_1_2_7_41_1 e_1_2_7_14_1 e_1_2_7_42_1 e_1_2_7_13_1 e_1_2_7_43_1 e_1_2_7_12_1 e_1_2_7_44_1 e_1_2_7_11_1 e_1_2_7_10_1 e_1_2_7_26_1 e_1_2_7_28_1 e_1_2_7_29_1 Egan KR (e_1_2_7_39_1) 2013; 2013 e_1_2_7_30_1 e_1_2_7_25_1 e_1_2_7_31_1 e_1_2_7_24_1 e_1_2_7_32_1 e_1_2_7_23_1 e_1_2_7_33_1 e_1_2_7_22_1 e_1_2_7_34_1 e_1_2_7_21_1 e_1_2_7_35_1 e_1_2_7_20_1 e_1_2_7_36_1 e_1_2_7_37_1 e_1_2_7_38_1
References_xml	– volume: 108 start-page: 2672 year: 2003 end-page: 2678 article-title: Clinical characterization of left ventricular non compaction in children: a relatively common form of cardiomyopathy publication-title: Circ J – volume: 27 start-page: 2957 issue: 21 year: 2011 end-page: 2963 article-title: FLASH: fast length adjustment of short reads to improve genome assemblies publication-title: Bioinformatics – volume: 119 start-page: 162 year: 2003 end-page: 167 article-title: Isolated non compaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients publication-title: Am J Med Genet A – volume: 25 start-page: 2078 year: 2009 end-page: 2079 article-title: The sequence alignment/map format and SAMtools publication-title: Bioinformatics – volume: 16 start-page: 1646 year: 2014 end-page: 1654 article-title: Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non‐compaction publication-title: Europace – volume: 93 start-page: 67 year: 2013 end-page: 77 article-title: Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy publication-title: Am J Hum Genet – volume: 366 start-page: 619 year: 2012 end-page: 628 article-title: Truncations of titin causing dilated cardiomyopathy publication-title: N Engl J Med – volume: 4 start-page: 367 year: 2011 end-page: 374 article-title: Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype publication-title: Circ Cardiovasc Genet – volume: 64 start-page: 745 year: 2014 end-page: 756 article-title: HCN4 mutations in multiple families with bradycardia and left ventricular non compaction cardiomyopathy publication-title: J Am Coll Cardiol – volume: 38 start-page: 3449 year: 2017 end-page: 3460 article-title: Clinical genetics and outcome of left ventricular non‐compaction cardiomyopathy publication-title: Eur Heart J – volume: 20 start-page: 1297 year: 2010 end-page: 1303 article-title: The genome analysis toolkit: a MapReduce framework for analyzing next‐generation DNA sequencing data publication-title: Genome Res – volume: 91 start-page: 126 year: 2017 end-page: 130 article-title: Homozygous PKP2 deletion associated with neonatal left Ventricule non compaction publication-title: Clin Genet – volume: 36 start-page: 1123 year: 2015 end-page: 35a article-title: Atlas of the clinical genetics of human dilated cardiomyopathy publication-title: Eur Heart J – volume: 46 start-page: 101 year: 2005 end-page: 105 article-title: Left ventricular non‐compaction: insights from cardiovascular magnetic resonance imaging publication-title: J Am Coll Cardiol – volume: 46 start-page: 310 year: 2014 end-page: 315 article-title: A general framework for estimating the relative pathogenicity of human genetic variants publication-title: Nat Genet – volume: 12 year: 2017 article-title: Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy publication-title: PLoS One – volume: 93 start-page: 468 year: 2008 end-page: 474 article-title: variants in Japanese patients with left ventricular noncompaction and arrhythmia publication-title: Mol Genet Metab – volume: 7 start-page: 426 year: 2016 end-page: 435 article-title: Combination of whole genome sequencing, linkage, and functional studies implicates a missense mutation in Titin as a cause of autosomal dominant cardiomyopathy with features of left ventricular noncompaction publication-title: Circ Cardiovasc Genet – volume: 25 start-page: 1754 year: 2009 end-page: 1760 article-title: Fast and accurate short read alignment with burrows‐wheeler transform publication-title: Bioinformatics – volume: 30 start-page: 6(9) year: 2017 article-title: A wide and specific Spectrum of genetic variants and genotype‐phenotype correlations revealed by next‐generation sequencing in patients with left ventricular non compaction publication-title: J Am Heart Assoc – volume: 386 start-page: 813 year: 2015 end-page: 825 article-title: Left ventricular non‐compaction cardiomyopathy publication-title: Lancet – volume: 101 start-page: 294 year: 2015 end-page: 301 article-title: Novel genotype‐phenotype associations demonstrated by high‐throughput sequencing in patients with hypertrophic cardiomyopathy publication-title: Heart – volume: 29 start-page: 308 year: 2015 end-page: 314 article-title: Targeted 46‐gene and clinical exome sequencing for mutations causing cardiomyopathies publication-title: Mol Cell Probes – volume: 100 start-page: 1087 year: 2011 end-page: 1093 article-title: Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non‐compaction and acantholytic palmoplantar keratoderma publication-title: Clin Res Cardiol – volume: 38 start-page: 3461 issue: 46 year: 2017 end-page: 3468 article-title: Defining the genetic architecture of hypertrophic cardiomyopathy: re‐evaluating the role of non‐sarcomeric genes publication-title: Eur Heart J – volume: 19 start-page: 192 year: 2017 end-page: 203 article-title: Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples publication-title: Genet Med – volume: 69 start-page: 1209 year: 2017 end-page: 1210 article-title: A distinct cardiomyopathy: HCN4 syndrome comprising myocardial noncompaction, bradycardia, mitral valve defects, and aortic dilation publication-title: J Am Coll Cardiol – volume: 25 start-page: 8 year: 2008 end-page: 12 article-title: Prevalence and characteristics of left ventricular noncompaction in a community hospital cohort of patients with systolic dysfunction publication-title: Echocardiography – volume: 88 start-page: 71 year: 2006 end-page: 77 article-title: Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity publication-title: Mol Genet Metab – volume: 39 start-page: 1784 year: 2018 end-page: 1793 article-title: The cardiomyopathy registry of the EURObservational research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies publication-title: Eur Heart J – volume: 86 start-page: 666 year: 2001 end-page: 671 article-title: Echocardiographic and pathoanatomical characteristics of isolated left ventricular non‐compaction: a step towards classification as a distinct cardiomyopathy publication-title: Heart – volume: 37 start-page: 1123 year: 2016 end-page: 1126 article-title: Fibrillin‐1 gene mutations in left ventricular non‐compaction cardiomyopathy publication-title: Pediatr Cardiol – volume: 113 start-page: 1807 year: 2006 end-page: 1816 article-title: Contemporary definitions and classification of the cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention publication-title: Circulation – volume: 2013 start-page: 736164 year: 2013 article-title: Just sinus bradycardia or something more serious? publication-title: Case Rep Pediatr – volume: 30 start-page: 258 year: 2015 end-page: 264 article-title: A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non‐compaction publication-title: Heart Vessels – volume: 20 start-page: 711 issue: 71 year: 2018 end-page: 722 article-title: Clinical features, and long‐term outcome of noncompaction cardiomyopathy publication-title: J Am Coll Cardiol – volume: 29 start-page: 270 year: 2008 end-page: 276 article-title: Classification of the cardiomyopathies: a position statement from the European Society of Cardiology working group on myocardial and pericardial diseases publication-title: Eur Heart J – volume: 61 start-page: 868 year: 1997 end-page: 872 article-title: Lethal non compaction of the left ventricular myocardium is allelic with Barth syndrome publication-title: Am J Hum Genet – volume: 13 start-page: 177 year: 2011 end-page: 185 article-title: Isolated left ventricular non‐compaction in adults: clinical and echocardiographic features in 105 patients. Results from a French registry publication-title: Eur J Heart Fail – volume: 38 start-page: e164 issue: 16 year: 2010 article-title: ANNOVAR: Functional annotation of genetic variants from high‐throughput sequencing data publication-title: Nucleic Acids Res – volume: 117 start-page: 2893 year: 2008 end-page: 2901 article-title: Mutations in sarcomere protein genes in left ventricular noncompaction publication-title: Circulation – volume: 17 start-page: 405 year: 2015 end-page: 424 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet Med – volume: 15 start-page: 241 year: 2018 end-page: 252 article-title: Role of titin in cardiomyopathy: from DNA variants to patient stratification publication-title: Nat Rev Cardiol – volume: 38 start-page: 3461 issue: 46 year: 2017 ident: e_1_2_7_27_1 article-title: Defining the genetic architecture of hypertrophic cardiomyopathy: re‐evaluating the role of non‐sarcomeric genes publication-title: Eur Heart J – volume: 2013 start-page: 736164 year: 2013 ident: e_1_2_7_39_1 article-title: Just sinus bradycardia or something more serious? publication-title: Case Rep Pediatr – ident: e_1_2_7_2_1 doi: 10.1016/S0140-6736(14)61282-4 – ident: e_1_2_7_18_1 doi: 10.1136/heart.86.6.666 – ident: e_1_2_7_19_1 doi: 10.1016/j.jacc.2005.03.045 – ident: e_1_2_7_43_1 doi: 10.1111/cge.12780 – ident: e_1_2_7_33_1 doi: 10.1136/heartjnl-2014-306387 – ident: e_1_2_7_41_1 doi: 10.1007/s00246-016-1404-9 – ident: e_1_2_7_29_1 doi: 10.1038/gim.2016.90 – ident: e_1_2_7_30_1 doi: 10.1016/j.jacc.2014.05.045 – ident: e_1_2_7_16_1 doi: 10.1007/s00380-014-0503-x – ident: e_1_2_7_42_1 doi: 10.1016/j.ajhg.2013.05.015 – ident: e_1_2_7_10_1 doi: 10.1161/CIRCULATIONAHA.107.746164 – ident: e_1_2_7_28_1 doi: 10.1038/nrcardio.2017.190 – ident: e_1_2_7_37_1 doi: 10.1093/eurheartj/ehx819 – ident: e_1_2_7_8_1 doi: 10.1002/ajmg.a.20075 – ident: e_1_2_7_34_1 doi: 10.1056/NEJMoa1110186 – ident: e_1_2_7_9_1 doi: 10.1086/514879 – ident: e_1_2_7_21_1 doi: 10.1093/bioinformatics/btp324 – ident: e_1_2_7_25_1 doi: 10.1038/ng.2892 – ident: e_1_2_7_4_1 doi: 10.1161/CIRCULATIONAHA.106.174287 – volume: 30 start-page: 6(9) year: 2017 ident: e_1_2_7_17_1 article-title: A wide and specific Spectrum of genetic variants and genotype‐phenotype correlations revealed by next‐generation sequencing in patients with left ventricular non compaction publication-title: J Am Heart Assoc – ident: e_1_2_7_22_1 doi: 10.1101/gr.107524.110 – ident: e_1_2_7_31_1 doi: 10.1016/j.jacc.2016.10.085 – ident: e_1_2_7_3_1 doi: 10.1093/eurheartj/ehm342 – ident: e_1_2_7_11_1 doi: 10.1161/CIRCGENETICS.110.959270 – ident: e_1_2_7_23_1 doi: 10.1093/bioinformatics/btp352 – ident: e_1_2_7_5_1 doi: 10.1111/j.1540-8175.2007.00560.x – ident: e_1_2_7_20_1 doi: 10.1093/bioinformatics/btr507 – ident: e_1_2_7_35_1 doi: 10.1093/eurheartj/ehu301 – ident: e_1_2_7_13_1 doi: 10.1161/CIRCGENETICS.116.001431 – ident: e_1_2_7_32_1 doi: 10.1093/europace/eut382 – ident: e_1_2_7_6_1 doi: 10.1161/01.CIR.0000100664.10777.B8 – ident: e_1_2_7_40_1 doi: 10.1016/j.ymgme.2007.10.009 – ident: e_1_2_7_15_1 doi: 10.1016/j.jacc.2017.12.019 – ident: e_1_2_7_24_1 doi: 10.1093/nar/gkq603 – ident: e_1_2_7_26_1 doi: 10.1038/gim.2015.30 – ident: e_1_2_7_38_1 doi: 10.1371/journal.pone.0181465 – ident: e_1_2_7_12_1 doi: 10.1016/j.ymgme.2005.11.009 – ident: e_1_2_7_36_1 doi: 10.1016/j.mcp.2015.05.004 – ident: e_1_2_7_7_1 doi: 10.1093/eurjhf/hfq225 – ident: e_1_2_7_14_1 doi: 10.1093/eurheartj/ehx545 – ident: e_1_2_7_44_1 doi: 10.1007/s00392-011-0345-9
SSID	ssj0003759
Score	2.4722292
Snippet	Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the... Left ventricular non-compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the...
SourceID	hal proquest pubmed crossref wiley
SourceType	Open Access Repository Aggregation Database Index Database Enrichment Source Publisher
StartPage	356
SubjectTerms	Cardiology and cardiovascular system Cardiomyopathy Compaction Dilated cardiomyopathy Genetic counseling Genetics Genotypes Human genetics Human health and pathology Ion channels (cyclic nucleotide-gated) left ventricular non‐compaction Life Sciences molecular genetic Mutation next generation sequencing Phenotypes Populations and Evolution Ryanodine receptors Ventricle
Title	Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity
URI	https://onlinelibrary.wiley.com/doi/abs/10.1111%2Fcge.13484 https://www.ncbi.nlm.nih.gov/pubmed/30471092 https://www.proquest.com/docview/2182383356 https://www.proquest.com/docview/2137471438 https://hal.sorbonne-universite.fr/hal-02055778
Volume	95
WOSCitedRecordID	wos000458956100002&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: PRVWIB databaseName: Wiley Online Library - Journals customDbUrl: eissn: 1399-0004 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0003759 issn: 0009-9163 databaseCode: DRFUL dateStart: 19970101 isFulltext: true titleUrlDefault: https://onlinelibrary.wiley.com providerName: Wiley-Blackwell
link	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1fT9swED_RAhMv498GHX_kIR54CWpiu3G0p4pReGBomkDqW2QnzopUtagt1fbGR-Az8km4c5xoiCEh8ZbGbuPGd-ff2Xe_AzhEpwNBg-YB-gJ5ILQwgbZJGHSsapt2XBQmKotNxJeXqt9Pfi7AtyoXpuSHqDfcSDOcvSYF12b6j5Jnv-1xyIUSDViMUG5lExa__-pdX9SGmMcyqQqpIQrinliIAnnqLz9bjhoDCoZ8iTSfA1e38vRW3zXmNfjoASfrlhKyDgt2tAHLZQnKvxvw4Yc_XN-EP1cuKtzmDC2EHTIfZY1rG7sZMUfUwTwN65TR_i0b2mLGKGDS7SLqCRuNR4_3Dy6u3eVLMCKIQgFnmg3pxxmKK2VNsgFF4YzpE3oBn-C6d3p1ch74wgxBJnDJDzhHFMWJLBAtgA4jrVUW6Y7ktqAELG24ifMEbXAii05ShDk5ZlGhhEU0l8eGf4YmDshuA-MGAZIUlnI5RS6MyS2PMrQ8ViotpGrBUTU_aeZZy6l4xjCtvBd8p6l7py04qLvellQd_-2Ek1y3E7n2efcipXsInKWMYzUPW7BbyUDqVXqaEtU9pxS1Tgu-1s2ojHTCgtMyvqM-nJx8wXHcW6Xs1I-i882wnUT4j5yIvD7G9OTs1F18eXvXHVhBKJeU0XG70JxN7uweLGXz2c10sg-NuK_2vX48AdCHEBk
linkProvider	Wiley-Blackwell
linkToHtml	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1LT-MwEB7xXi48F7Y8DeLAJaiJnSaRuFRAKaJUCBWJW2QnzoJUtagt1e5tf8L-Rn4JM44TgQAJiVsau40bz4y_sWe-AThApwNBg-QO-gKpI6RQjtSR69R0WFXVIMuUlxebCNrt8O4uup6A4yIXJueHKDfcSDOMvSYFpw3pV1qe_NZHLhehmIRpgWKE8j19etO4bZWWmAd-VFRSQxjELbMQRfKUX36zHk3eUzTke6j5Frmapaex-L1BL8GChZysnsvIMkzo3grM5kUo_67A3JU9Xl-FPx0TF65ThjZCd5mNs8bVjT30mKHqYJaIdchoB5d1dTZiFDJp9hHlgPX6ved__01ku8mYYEQRhSLOJOvSjzMUWMqbZPcUh9OnT-gH_ITbxlnnpOnY0gxOInDRdzhHHMWJLhBtgHQ9KcPEkzWf64xSsKTiKkgjtMKRn9WizE3JNfOyUGjEc2mg-BpM4YD0L2BcIUTyhaZsTpEKpVLNvQRtj_ZDKfywAofFBMWJ5S2n8hnduPBf8J3G5p1WYL_s-piTdXzYCWe5bCd67Wa9FdM9hM6-HwTh2K3AViEEsVXqYUxk95yS1GoV2CubUR3pjAWnpf9EfTi5-YLjuNdz4SkfRSecbjXy8B8ZGfl8jPHJ-Zm52Ph611340excteLWRftyE-YR2EV5rNwWTI0GT3obZpLx6GE42LFq8gKtyRMh
linkToPdf	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1LT8MwDLZgPMSF92M8A-LApWht0rWVuCBggBgTQiBxq5I2BaRpQ9tAcOMn8Bv5JdhpWoEACYlb12Rr1tjO58T-DLCNTgeCBskd9AVSR0ihHKkj16nrsKZqQZYpLy82EbRa4c1NdDEEe0UuTM4PUW64kWYYe00Krh_S7JOWJ7d61-UiFMMwIqiITAVGDi8b183SEvPAj4pKagiDuGUWokie8stf1qPhO4qG_A41vyJXs_Q0pv436GmYtJCT7ecyMgNDujMLY3kRypdZGD-3x-tz8Hxl4sJ1ytBG6Dazcda4urH7DjNUHcwSsfYZ7eCyts4GjEImzT6i7LFOt_P--mYi203GBCOKKBRxJlmbfpyhwFLeJLujOJwufUI_YB6uG0dXByeOLc3gJAIXfYdzxFGc6ALRBkjXkzJMPFn3uc4oBUsqroI0Qisc-Vk9ytyUXDMvC4VGPJcGii9ABQekl4BxhRDJF5qyOUUqlEo19xK0PdoPpfDDKuwUExQnlrecyme048J_wXcam3daha2y60NO1vFjJ5zlsp3otU_2mzHdQ-js-0EQPrlVWC2EILZK3Y-J7J5Tklq9CptlM6ojnbHgtHQfqQ8nN19wHPdiLjzlo-iE061FHv4jIyO_jzE-OD4yF8t_77oB4xeHjbh52jpbgQnEdVEeKrcKlUHvUa_BaPI0uO_31q2WfAAccRKc
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=Targeted+panel+sequencing+in+adult+patients+with+left+ventricular+non-compaction+reveals+a+large+genetic+heterogeneity&rft.jtitle=Clinical+genetics&rft.au=Richard%2C+Pascale&rft.au=Ader%2C+Flavie&rft.au=Roux%2C+Maguelonne&rft.au=Donal%2C+Erwan&rft.date=2019-03-01&rft.issn=1399-0004&rft.eissn=1399-0004&rft.volume=95&rft.issue=3&rft.spage=356&rft_id=info:doi/10.1111%2Fcge.13484&rft.externalDBID=NO_FULL_TEXT
thumbnail_l	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0009-9163&client=summon
thumbnail_m	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0009-9163&client=summon
thumbnail_s	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0009-9163&client=summon