Publications:

The lncRNA H19 alleviates muscular dystrophy by stabilizing dystrophin.

Nature Cell Biology

Zhang, Yaohua Y; Li, Yajuan Y; Hu, Qingsong Q; Xi, Yutao Y; Xing, Zhen Z; Zhang, Zhao Z; Huang, Lisa L; Wu, Jianbo J; Liang, Ke K; Nguyen, Tina K TK; Egranov, Sergey D SD; Sun, Chengcao C; Zhao, Zilong Z; Hawke, David H DH; Li, Jin J; Sun, Deqiang D; Kim, Jean J JJ; Zhang, Ping P; Cheng, Jie J; Farida, Abid A; Hung, Mien-Chie MC; Han, Leng L; Darabi, Radbod R; Lin, Chunru C; Yang, Liuqing L

Publication Date: 2020-11

Variant appearance in text: DMD: F3228L

PubMed Link: 33106653

Variant Present in the following documents:

• NIHMS1630179-supplement-1630179_SourceDataFig2.xlsx, sheet 2
• nihms-1630179.pdf
• NIHMS1630179-supplement-1630179_ExtSourceDataFig2.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: DMD: F3228L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: DMD: 9682T>C; F3228L

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Molecular Genetics & Genomic Medicine

Nouhravesh, Nina N; Ahlberg, Gustav G; Ghouse, Jonas J; Andreasen, Charlotte C; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Weeke, Peter E PE; Olesen, Morten S MS

Publication Date: 2016-11

Variant appearance in text: DMD: 9682T>C; F3228L

PubMed Link: 27896284

Variant Present in the following documents:

• Main text
• MGG3-4-617.pdf

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X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy.

Pharmaceuticals (Basel, Switzerland)

Nakamura, Akinori A

Publication Date: 2015-06-09

Variant appearance in text: DMD: F3228L

PubMed Link: 26066469

Variant Present in the following documents:

• Main text
• pharmaceuticals-08-00303.pdf

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