Literature DB >> 30354584

MAGUS: A Shared Tool for the Genetic Community.

Jessica R Golbus1, Brahmajee K Nallamothu2,3,4, Rahul C Deo4.   

Abstract

Entities:  

Keywords:  Editorials; cardiomyopathies; genes; whole exome sequencing; whole genome sequencing

Mesh：

Year:  2018        PMID： 30354584      PMCID： PMC8882307          DOI： 10.1161/CIRCOUTCOMES.118.005006

Source DB:  PubMed          Journal:  Circ Cardiovasc Qual Outcomes        ISSN： 1941-7713


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  10 in total

1.  Machine-Assisted Genotype Update System (MAGUS) for Inherited Cardiomyopathies.

Authors:  Nikolaos Papoutsidakis; Stephen B Heitner; Meghan C Mannello; Anna Rodonski; William Campbell; Kylie McElheran; Daniel L Jacoby
Journal:  Circ Cardiovasc Qual Outcomes       Date:  2018-10

Review 2.  Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.

Authors:  Ray E Hershberger; Michael M Givertz; Carolyn Y Ho; Daniel P Judge; Paul F Kantor; Kim L McBride; Ana Morales; Matthew R G Taylor; Matteo Vatta; Stephanie M Ware
Journal:  J Card Fail       Date:  2018-03-19       Impact factor: 5.712

3.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

4.  Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.

Authors:  Jessica R Golbus; Megan J Puckelwartz; Lisa Dellefave-Castillo; John P Fahrenbach; Viswateja Nelakuditi; Lorenzo L Pesce; Peter Pytel; Elizabeth M McNally
Journal:  Circ Cardiovasc Genet       Date:  2014-09-01

5.  Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation.

Authors:  Aisha Furqan; Patricia Arscott; Francesca Girolami; Allison L Cirino; Michelle Michels; Sharlene M Day; Iacopo Olivotto; Carolyn Y Ho; Euan Ashley; Eric M Green; Colleen Caleshu
Journal:  Circ Cardiovasc Genet       Date:  2017-10

Review 6.  Genetic advances in sarcomeric cardiomyopathies: state of the art.

Authors:  Carolyn Y Ho; Philippe Charron; Pascale Richard; Francesca Girolami; Karin Y Van Spaendonck-Zwarts; Yigal Pinto
Journal:  Cardiovasc Res       Date:  2015-01-29       Impact factor: 10.787

7.  Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Authors:  Roddy Walsh; Kate L Thomson; James S Ware; Birgit H Funke; Jessica Woodley; Karen J McGuire; Francesco Mazzarotto; Edward Blair; Anneke Seller; Jenny C Taylor; Eric V Minikel; Daniel G MacArthur; Martin Farrall; Stuart A Cook; Hugh Watkins
Journal:  Genet Med       Date:  2016-08-17       Impact factor: 8.822

8.  ClinVar: improving access to variant interpretations and supporting evidence.

Authors:  Melissa J Landrum; Jennifer M Lee; Mark Benson; Garth R Brown; Chen Chao; Shanmuga Chitipiralla; Baoshan Gu; Jennifer Hart; Douglas Hoffman; Wonhee Jang; Karen Karapetyan; Kenneth Katz; Chunlei Liu; Zenith Maddipatla; Adriana Malheiro; Kurt McDaniel; Michael Ovetsky; George Riley; George Zhou; J Bradley Holmes; Brandi L Kattman; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2018-01-04       Impact factor: 16.971

9.  Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Authors:  Melissa A Kelly; Colleen Caleshu; Ana Morales; Jillian Buchan; Zena Wolf; Steven M Harrison; Stuart Cook; Mitchell W Dillon; John Garcia; Eden Haverfield; Jan D H Jongbloed; Daniela Macaya; Arjun Manrai; Kate Orland; Gabriele Richard; Katherine Spoonamore; Matthew Thomas; Kate Thomson; Lisa M Vincent; Roddy Walsh; Hugh Watkins; Nicola Whiffin; Jodie Ingles; J Peter van Tintelen; Christopher Semsarian; James S Ware; Ray Hershberger; Birgit Funke
Journal:  Genet Med       Date:  2018-01-04       Impact factor: 8.822

10.  Using high-resolution variant frequencies to empower clinical genome interpretation.

Authors:  Nicola Whiffin; Eric Minikel; Roddy Walsh; Anne H O'Donnell-Luria; Konrad Karczewski; Alexander Y Ing; Paul J R Barton; Birgit Funke; Stuart A Cook; Daniel MacArthur; James S Ware
Journal:  Genet Med       Date:  2017-05-18       Impact factor: 8.822
  10 in total

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