Literature DB >> 30898215

Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations.

Christopher Semsarian, Jodie Ingles, Richard D Bagnall.   

Abstract

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Year:  2019        PMID: 30898215     DOI: 10.1016/j.jacc.2018.12.060

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


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  4 in total

1.  A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.

Authors:  Roman Myasnikov; Anna Bukaeva; Olga Kulikova; Alexey Meshkov; Anna Kiseleva; Alexandra Ershova; Anna Petukhova; Mikhail Divashuk; Evgenia Zotova; Evgeniia Sotnikova; Maria Kharlap; Anastasia Zharikova; Yuri Vyatkin; Vasily Ramensky; Alexandra Abisheva; Alisa Muraveva; Sergey Koretskiy; Maria Kudryavtseva; Sergey Popov; Marina Utkina; Elena Mershina; Valentin Sinitsyn; Evgeniya Kogan; Olga Blagova; Oxana Drapkina
Journal:  Genes (Basel)       Date:  2022-02-07       Impact factor: 4.096

Review 2.  Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.

Authors:  Roddy Walsh; Joost A Offerhaus; Rafik Tadros; Connie R Bezzina
Journal:  Nat Rev Cardiol       Date:  2021-09-15       Impact factor: 32.419

Review 3.  Formins in Human Disease.

Authors:  Leticia Labat-de-Hoz; Miguel A Alonso
Journal:  Cells       Date:  2021-09-27       Impact factor: 6.600

4.  Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Authors:  Robert Lesurf; Abdelrahman Said; Oyediran Akinrinade; Jeroen Breckpot; Kathleen Delfosse; Ting Liu; Roderick Yao; Gabrielle Persad; Fintan McKenna; Ramil R Noche; Winona Oliveros; Kaia Mattioli; Shreya Shah; Anastasia Miron; Qian Yang; Guoliang Meng; Michelle Chan Seng Yue; Wilson W L Sung; Bhooma Thiruvahindrapuram; Jane Lougheed; Erwin Oechslin; Tapas Mondal; Lynn Bergin; John Smythe; Shashank Jayappa; Vinay J Rao; Jayaprakash Shenthar; Perundurai S Dhandapany; Christopher Semsarian; Robert G Weintraub; Richard D Bagnall; Jodie Ingles; Marta Melé; Philipp G Maass; James Ellis; Stephen W Scherer; Seema Mital
Journal:  NPJ Genom Med       Date:  2022-03-14       Impact factor: 8.617

  4 in total

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