Literature DB >> 28479597

Genetic testing: The diagnostic power of RNA-seq.

Katharine H Wrighton.   

Abstract

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Year:  2017        PMID： 28479597     DOI： 10.1038/nrg.2017.39

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  1 in total

1.  Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Authors:  Beryl B Cummings; Jamie L Marshall; Taru Tukiainen; Monkol Lek; Sandra Donkervoort; A Reghan Foley; Veronique Bolduc; Leigh B Waddell; Sarah A Sandaradura; Gina L O'Grady; Elicia Estrella; Hemakumar M Reddy; Fengmei Zhao; Ben Weisburd; Konrad J Karczewski; Anne H O'Donnell-Luria; Daniel Birnbaum; Anna Sarkozy; Ying Hu; Hernan Gonorazky; Kristl Claeys; Himanshu Joshi; Adam Bournazos; Emily C Oates; Roula Ghaoui; Mark R Davis; Nigel G Laing; Ana Topf; Peter B Kang; Alan H Beggs; Kathryn N North; Volker Straub; James J Dowling; Francesco Muntoni; Nigel F Clarke; Sandra T Cooper; Carsten G Bönnemann; Daniel G MacArthur
Journal:  Sci Transl Med       Date:  2017-04-19       Impact factor: 17.956
  1 in total
  1 in total

1.  Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Authors:  Sateesh Maddirevula; Hiroyuki Kuwahara; Nour Ewida; Hanan E Shamseldin; Nisha Patel; Fatema Alzahrani; Tarfa AlSheddi; Eman AlObeid; Mona Alenazi; Hessa S Alsaif; Maha Alqahtani; Maha AlAli; Hatoon Al Ali; Rana Helaby; Niema Ibrahim; Firdous Abdulwahab; Mais Hashem; Nadine Hanna; Dorota Monies; Nada Derar; Afaf Alsagheir; Amal Alhashem; Badr Alsaleem; Hamoud Alhebbi; Sami Wali; Ramzan Umarov; Xin Gao; Fowzan S Alkuraya
Journal:  Genome Biol       Date:  2020-06-17       Impact factor: 13.583
  1 in total

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