Clinical implementation of RNA sequencing for Mendelian disease diagnostics
RNA测序在孟德尔遗传病诊断中的临床应用
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-022-01019-9
Yépez, Vicente A; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H; Alston, Charlotte L; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elżbieta; Distelmaier, Felix; Freisinger, Peter; Häberle, Johannes; Hayflick, Susan J; Hempel, Maja; Itkis, Yulia S; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Müller, Michaela F; Muñoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joél; Staufner, Christian; Stenton, Sarah L; Strom, Tim M; Terrile, Caterina; Tort, Frederic; Van Coster, Rudy; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Rötig, Agnès; Taylor, Robert W; Wortmann, Saskia B; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien; Prokisch, Holger