Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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  2. Dr Ana Topf
  3. Professor Volker Straub
Author(s)Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bonnemann CG, MacArthur DG
Publication type Article
JournalScience Translational Medicine
ISSN (print)1946-6234
ISSN (electronic)1946-6242
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PublisherAmerican Association for the Advancement of Science
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