Literature DB >> 29555674

Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease.

Sharon L Paige1, Priyanka Saha1, James R Priest2.   

Abstract

Entities:  

Keywords:  Editorials; genetic testing; heart defects, congenital; whole exome sequencing

Mesh：

Year:  2018        PMID： 29555674      PMCID： PMC6049807          DOI： 10.1161/CIRCGEN.118.002097

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  15 in total

1.  The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

Authors:  Yaojuan Jia; Jacoba J Louw; Jeroen Breckpot; Bert Callewaert; Catherine Barrea; Yves Sznajer; Marc Gewillig; Erika Souche; Luc Dehaspe; Joris Robert Vermeesch; Diether Lambrechts; Koenraad Devriendt; Anniek Corveleyn
Journal:  Am J Med Genet A       Date:  2015-04-30       Impact factor: 2.802

2.  Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.

Authors:  Stephanie LaHaye; Don Corsmeier; Madhumita Basu; Jessica L Bowman; Sara Fitzgerald-Butt; Gloria Zender; Kevin Bosse; Kim L McBride; Peter White; Vidu Garg
Journal:  Circ Cardiovasc Genet       Date:  2016-07-14

Review 3.  Genetics of coronary artery disease: discovery, biology and clinical translation.

Authors:  Amit V Khera; Sekar Kathiresan
Journal:  Nat Rev Genet       Date:  2017-03-13       Impact factor: 53.242

4.  Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.

Authors:  Rejane A C Monteiro; Mariana L de Freitas; Gabrielle S Vianna; Valdirene T de Oliveira; Rafaella X Pietra; Luana C A Ferreira; Patrícia P O Rocha; Michele da S Gonçalves; Giovana da C César; Joziele de S Lima; Paula F V Medeiros; Juliana F Mazzeu; Fernanda S Jehee
Journal:  Mol Syndromol       Date:  2017-06-14

5.  De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

Authors:  Jason Homsy; Samir Zaidi; Yufeng Shen; James S Ware; Kaitlin E Samocha; Konrad J Karczewski; Steven R DePalma; David McKean; Hiroko Wakimoto; Josh Gorham; Sheng Chih Jin; John Deanfield; Alessandro Giardini; George A Porter; Richard Kim; Kaya Bilguvar; Francesc López-Giráldez; Irina Tikhonova; Shrikant Mane; Angela Romano-Adesman; Hongjian Qi; Badri Vardarajan; Lijiang Ma; Mark Daly; Amy E Roberts; Mark W Russell; Seema Mital; Jane W Newburger; J William Gaynor; Roger E Breitbart; Ivan Iossifov; Michael Ronemus; Stephan J Sanders; Jonathan R Kaltman; Jonathan G Seidman; Martina Brueckner; Bruce D Gelb; Elizabeth Goldmuntz; Richard P Lifton; Christine E Seidman; Wendy K Chung
Journal:  Science       Date:  2015-12-04       Impact factor: 47.728

Review 6.  Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

Authors:  Gillian M Blue; Edwin P Kirk; Eleni Giannoulatou; Gary F Sholler; Sally L Dunwoodie; Richard P Harvey; David S Winlaw
Journal:  J Am Coll Cardiol       Date:  2017-02-21       Impact factor: 24.094

7.  A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

Authors:  Justin O Szot; Hartmut Cuny; Gillian M Blue; David T Humphreys; Eddie Ip; Katrina Harrison; Gary F Sholler; Eleni Giannoulatou; Paul Leo; Emma L Duncan; Duncan B Sparrow; Joshua W K Ho; Robert M Graham; Nicholas Pachter; Gavin Chapman; David S Winlaw; Sally L Dunwoodie
Journal:  Circ Genom Precis Med       Date:  2018-03

8.  Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Authors:  Joseph T Glessner; Alexander G Bick; Kaoru Ito; Jason Homsy; Laura Rodriguez-Murillo; Menachem Fromer; Erica Mazaika; Badri Vardarajan; Michael Italia; Jeremy Leipzig; Steven R DePalma; Ryan Golhar; Stephan J Sanders; Boris Yamrom; Michael Ronemus; Ivan Iossifov; A Jeremy Willsey; Matthew W State; Jonathan R Kaltman; Peter S White; Yufeng Shen; Dorothy Warburton; Martina Brueckner; Christine Seidman; Elizabeth Goldmuntz; Bruce D Gelb; Richard Lifton; Jonathan Seidman; Hakon Hakonarson; Wendy K Chung
Journal:  Circ Res       Date:  2014-09-09       Impact factor: 17.367

9.  Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Authors:  Sheng Chih Jin; Jason Homsy; Samir Zaidi; Qiongshi Lu; Sarah Morton; Steven R DePalma; Xue Zeng; Hongjian Qi; Weni Chang; Michael C Sierant; Wei-Chien Hung; Shozeb Haider; Junhui Zhang; James Knight; Robert D Bjornson; Christopher Castaldi; Irina R Tikhonoa; Kaya Bilguvar; Shrikant M Mane; Stephan J Sanders; Seema Mital; Mark W Russell; J William Gaynor; John Deanfield; Alessandro Giardini; George A Porter; Deepak Srivastava; Cecelia W Lo; Yufeng Shen; W Scott Watkins; Mark Yandell; H Joseph Yost; Martin Tristani-Firouzi; Jane W Newburger; Amy E Roberts; Richard Kim; Hongyu Zhao; Jonathan R Kaltman; Elizabeth Goldmuntz; Wendy K Chung; Jonathan G Seidman; Bruce D Gelb; Christine E Seidman; Richard P Lifton; Martina Brueckner
Journal:  Nat Genet       Date:  2017-10-09       Impact factor: 38.330

10.  De novo mutations in histone-modifying genes in congenital heart disease.

Authors:  Samir Zaidi; Murim Choi; Hiroko Wakimoto; Lijiang Ma; Jianming Jiang; John D Overton; Angela Romano-Adesman; Robert D Bjornson; Roger E Breitbart; Kerry K Brown; Nicholas J Carriero; Yee Him Cheung; John Deanfield; Steve DePalma; Khalid A Fakhro; Joseph Glessner; Hakon Hakonarson; Michael J Italia; Jonathan R Kaltman; Juan Kaski; Richard Kim; Jennie K Kline; Teresa Lee; Jeremy Leipzig; Alexander Lopez; Shrikant M Mane; Laura E Mitchell; Jane W Newburger; Michael Parfenov; Itsik Pe'er; George Porter; Amy E Roberts; Ravi Sachidanandam; Stephan J Sanders; Howard S Seiden; Mathew W State; Sailakshmi Subramanian; Irina R Tikhonova; Wei Wang; Dorothy Warburton; Peter S White; Ismee A Williams; Hongyu Zhao; Jonathan G Seidman; Martina Brueckner; Wendy K Chung; Bruce D Gelb; Elizabeth Goldmuntz; Christine E Seidman; Richard P Lifton
Journal:  Nature       Date:  2013-05-12       Impact factor: 49.962
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  2 in total

1.  Parental Attitudes Toward Clinical Genomic Sequencing in Children With Critical Cardiac Disease.

Authors:  Dana B Gal; Natalie Deuitch; Sandra Soo Jin Lee; Rosalie Tang Simon; Danton S Char
Journal:  Pediatr Crit Care Med       Date:  2021-08-01       Impact factor: 3.971

2.  Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.

Authors:  Dana B Gal; Ana Morales; Susan Rojahn; Tom Callis; John Garcia; James R Priest; Rebecca Truty; Matteo Vatta; Robert L Nussbaum; Edward D Esplin; Seth A Hollander
Journal:  Pediatr Cardiol       Date:  2021-10-29       Impact factor: 1.655
  2 in total

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