Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: DMD: 5867G>A; Trp1956Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bidou, Laure L; Bugaud, Olivier O; Merer, Goulven G; Coupet, Matthieu M; Hatin, Isabelle I; Chirkin, Egor E; Karri, Sabrina S; Demais, Stéphane S; François, Pauline P; Cintrat, Jean-Christophe JC; Namy, Olivier O

Publication Date: 2022-08-30

Variant appearance in text: DMD: W1956X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

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A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center.

Frontiers In Neurology

Tong, Yuan-Ren YR; Geng, Chang C; Guan, Yu-Zhou YZ; Zhao, Yan-Huan YH; Ren, Hai-Tao HT; Yao, Feng-Xia FX; Ling, Chao C; Wang, Dan-Chen DC; Chen, Lin L; Cui, Li-Ying LY; Zhang, Shu-Yang SY; Dai, Yi Y

Publication Date: 2020

Variant appearance in text: DMD: 5867G>A; Trp1956Ter

PubMed Link: 33101180

Variant Present in the following documents:

• Main text
• fneur-11-572006.pdf

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Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy.

Scientific Reports

Sugihara, Hidetoshi H; Teramoto, Naomi N; Nakamura, Katsuyuki K; Shiga, Takanori T; Shirakawa, Taku T; Matsuo, Masafumi M; Ogasawara, Masashi M; Nishino, Ichizo I; Matsuwaki, Takashi T; Nishihara, Masugi M; Yamanouchi, Keitaro K

Publication Date: 2020-10-12

Variant appearance in text: DMD: 5867G>A; W1956X

PubMed Link: 33046751

Variant Present in the following documents:

• 41598_2020_73315_MOESM1_ESM.pdf

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Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

Plos One

Finkel, Richard S RS; Flanigan, Kevin M KM; Wong, Brenda B; Bönnemann, Carsten C; Sampson, Jacinda J; Sweeney, H Lee HL; Reha, Allen A; Northcutt, Valerie J VJ; Elfring, Gary G; Barth, Jay J; Peltz, Stuart W SW

Publication Date: 2013

Variant appearance in text: DMD: W1956X

PubMed Link: 24349052

Variant Present in the following documents:

• Main text
• pone.0081302.pdf

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