Literature DB >> 32164899

Titin Truncating Variants in Adults Without Known Congestive Heart Failure.

James P Pirruccello, Alexander Bick, Mark Chaffin, Krishna G Aragam, Seung Hoan Choi, Steven A Lubitz, Carolyn Y Ho, Kenney Ng, Anthony Philippakis, Patrick T Ellinor, Sekar Kathiresan, Amit V Khera.   

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Year:  2020        PMID: 32164899      PMCID: PMC7433750          DOI: 10.1016/j.jacc.2020.01.013

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN: 0735-1097            Impact factor:   24.094


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  3 in total

1.  Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.

Authors:  Christopher M Haggerty; Scott M Damrauer; Michael G Levin; David Birtwell; David J Carey; Alicia M Golden; Dustin N Hartzel; Yirui Hu; Renae Judy; Melissa A Kelly; Rachel L Kember; H Lester Kirchner; Joseph B Leader; Lusha Liang; Chris McDermott-Roe; Apoorva Babu; Michael Morley; Zachariah Nealy; Thomas N Person; Arichanah Pulenthiran; Aeron Small; Diane T Smelser; Richard C Stahl; Amy C Sturm; Heather Williams; Aris Baras; Kenneth B Margulies; Thomas P Cappola; Frederick E Dewey; Anurag Verma; Xinyuang Zhang; Adolfo Correa; Michael E Hall; James G Wilson; Marylyn D Ritchie; Daniel J Rader; Michael F Murray; Brandon K Fornwalt; Zoltan Arany
Journal:  Circulation       Date:  2019-06-20       Impact factor: 29.690

2.  Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.

Authors:  Seung Hoan Choi; Lu-Chen Weng; Carolina Roselli; Honghuang Lin; Christopher M Haggerty; M Benjamin Shoemaker; John Barnard; Dan E Arking; Daniel I Chasman; Christine M Albert; Mark Chaffin; Nathan R Tucker; Jonathan D Smith; Namrata Gupta; Stacey Gabriel; Lauren Margolin; Marisa A Shea; Christian M Shaffer; Zachary T Yoneda; Eric Boerwinkle; Nicholas L Smith; Edwin K Silverman; Susan Redline; Ramachandran S Vasan; Esteban G Burchard; Stephanie M Gogarten; Cecelia Laurie; Thomas W Blackwell; Gonçalo Abecasis; David J Carey; Brandon K Fornwalt; Diane T Smelser; Aris Baras; Frederick E Dewey; Cashell E Jaquish; George J Papanicolaou; Nona Sotoodehnia; David R Van Wagoner; Bruce M Psaty; Sekar Kathiresan; Dawood Darbar; Alvaro Alonso; Susan R Heckbert; Mina K Chung; Dan M Roden; Emelia J Benjamin; Michael F Murray; Kathryn L Lunetta; Steven A Lubitz; Patrick T Ellinor
Journal:  JAMA       Date:  2018-12-11       Impact factor: 56.272

3.  Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Authors:  Angharad M Roberts; James S Ware; Daniel S Herman; Sebastian Schafer; John Baksi; Alexander G Bick; Rachel J Buchan; Roddy Walsh; Shibu John; Samuel Wilkinson; Francesco Mazzarotto; Leanne E Felkin; Sungsam Gong; Jacqueline A L MacArthur; Fiona Cunningham; Jason Flannick; Stacey B Gabriel; David M Altshuler; Peter S Macdonald; Matthias Heinig; Anne M Keogh; Christopher S Hayward; Nicholas R Banner; Dudley J Pennell; Declan P O'Regan; Tan Ru San; Antonio de Marvao; Timothy J W Dawes; Ankur Gulati; Emma J Birks; Magdi H Yacoub; Michael Radke; Michael Gotthardt; James G Wilson; Christopher J O'Donnell; Sanjay K Prasad; Paul J R Barton; Diane Fatkin; Norbert Hubner; Jonathan G Seidman; Christine E Seidman; Stuart A Cook
Journal:  Sci Transl Med       Date:  2015-01-14       Impact factor: 17.956

  3 in total
  12 in total

Review 1.  Emerging Genotype-Phenotype Associations in Dilated Cardiomyopathy.

Authors:  Joyce N Njoroge; Jennifer C Mangena; Chiaka Aribeana; Victoria N Parikh
Journal:  Curr Cardiol Rep       Date:  2022-07-28       Impact factor: 3.955

2.  Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.

Authors:  Aniruddh P Patel; Jacqueline S Dron; Minxian Wang; James P Pirruccello; Kenney Ng; Pradeep Natarajan; Matthew Lebo; Patrick T Ellinor; Krishna G Aragam; Amit V Khera
Journal:  JAMA Cardiol       Date:  2022-07-01       Impact factor: 30.154

Review 3.  Advances in the Genetics and Genomics of Heart Failure.

Authors:  Nosheen Reza; Anjali Tiku Owens
Journal:  Curr Cardiol Rep       Date:  2020-09-10       Impact factor: 2.931

Review 4.  Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease.

Authors:  Victoria N Parikh
Journal:  Circ Genom Precis Med       Date:  2021-02-01

5.  Refocusing on the Primary Prevention of Heart Failure.

Authors:  Lua A Jafari; Rachel M Suen; Sadiya S Khan
Journal:  Curr Treat Options Cardiovasc Med       Date:  2020-05-29

6.  Progress and Research Priorities in Imaging Genomics for Heart and Lung Disease: Summary of an NHLBI Workshop.

Authors:  Donna K Arnett; Ramachandran S Vasan; Matthew Nayor; Li Shen; Gary M Hunninghake; Peter Kochunov; R Graham Barr; David A Bluemke; Ulrich Broeckel; Peter Caravan; Susan Cheng; Paul S de Vries; Udo Hoffmann; Márton Kolossváry; Huiqing Li; James Luo; Elizabeth M McNally; George Thanassoulis
Journal:  Circ Cardiovasc Imaging       Date:  2021-08-13       Impact factor: 8.589

7.  Making sense of missense variants in TTN-related congenital myopathies.

Authors:  Heinz Jungbluth; Mathias Gautel; Martin Rees; Roksana Nikoopour; Atsushi Fukuzawa; Ay Lin Kho; Miguel A Fernandez-Garcia; Elizabeth Wraige; Istvan Bodi; Charu Deshpande; Özkan Özdemir; Hülya-Sevcan Daimagüler; Mark Pfuhl; Mark Holt; Birgit Brandmeier; Sarah Grover; Joël Fluss; Cheryl Longman; Maria Elena Farrugia; Emma Matthews; Michael Hanna; Francesco Muntoni; Anna Sarkozy; Rahul Phadke; Ros Quinlivan; Emily C Oates; Rolf Schröder; Christian Thiel; Jens Reimann; Nicol Voermans; Corrie Erasmus; Erik-Jan Kamsteeg; Chaminda Konersman; Carla Grosmann; Shane McKee; Sandya Tirupathi; Steven A Moore; Ekkehard Wilichowski; Elke Hobbiebrunken; Gabriele Dekomien; Isabelle Richard; Peter Van den Bergh; Cristina Domínguez-González; Sebahattin Cirak; Ana Ferreiro
Journal:  Acta Neuropathol       Date:  2021-01-15       Impact factor: 17.088

Review 8.  Towards precision medicine in heart failure.

Authors:  Chad S Weldy; Euan A Ashley
Journal:  Nat Rev Cardiol       Date:  2021-06-09       Impact factor: 32.419

9.  Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillation.

Authors:  Julieta Lazarte; Zachary W Laksman; Jian Wang; John F Robinson; Jacqueline S Dron; Emma Leach; Janet Liew; Adam D McIntyre; Allan C Skanes; Lorne J Gula; Peter Leong-Sit; Henian Cao; Brett Trost; Stephen W Scherer; Robert A Hegele; Jason D Roberts
Journal:  Europace       Date:  2021-06-07       Impact factor: 5.214

10.  The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Authors:  Yasmine Aguib; Mona Allouba; Alaa Afify; Sarah Halawa; Mohamed El-Khatib; Marina Sous; Aya Galal; Eslam Abdelrahman; Nairouz Shehata; Amr El Sawy; Mohamed Elmaghawry; Shehab Anwer; Omnia Kamel; Wesam El Mozy; Hadir Khedr; Ahmed Kharabish; Nagwa Thabet; Pantazis I Theotokis; Rachel Buchan; Risha Govind; Nicola Whiffin; Roddy Walsh; Heba Aguib; Ahmed Elguindy; Declan P O'Regan; Stuart A Cook; Paul J Barton; James S Ware; Magdi Yacoub
Journal:  NPJ Genom Med       Date:  2020-10-23       Impact factor: 8.617

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