Publications:

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NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.

Bmc Medical Genomics

Tang, Feng F; Xiao, Yuanyuan Y; Zhou, Cong C; Zhang, Haixia H; Wang, Jing J; Zeng, Yang Y

Publication Date: 2023-05-30

Variant appearance in text: DMD: 9568C>T; R3190*

PubMed Link: 37254189

Variant Present in the following documents:

• Main text
• 12920_2023_Article_1556.pdf

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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association

Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP

Publication Date: 2022-10-04

Variant appearance in text: DMD: 9568C>T; R3190X

PubMed Link: 36129056

Variant Present in the following documents:

• JAH3-11-e025257-s001.pdf
• JAH3-11-e025257.pdf

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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: R3190X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

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Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

Plos One

Yun, UnKyu U; Lee, Seung-Ah SA; Choi, Won Ah WA; Kang, Seong-Woong SW; Seo, Go Hun GH; Lee, Jung Hwan JH; Park, Goeun G; Lee, Sujee S; Choi, Young-Chul YC; Park, Hyung Jun HJ

Publication Date: 2021

Variant appearance in text: DMD: 9568C>T; Arg3190Ter

PubMed Link: 34297739

Variant Present in the following documents:

• pone.0255011.s001.pdf

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Theragnosis for Duchenne Muscular Dystrophy.

Frontiers In Pharmacology

Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F

Publication Date: 2021

Variant appearance in text: DMD: 9568C>T; Arg3190*

PubMed Link: 34149409

Variant Present in the following documents:

• Main text
• fphar-12-648390.pdf

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Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases

Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y

Publication Date: 2021-06-02

Variant appearance in text: DMD: 9568C>T; Arg3190*

PubMed Link: 34078427

Variant Present in the following documents:

• 13023_2021_1853_MOESM1_ESM.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: R3190X

PubMed Link: 33046751

Variant Present in the following documents:

• 41598_2020_73315_MOESM1_ESM.pdf

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[Clinical phenotypes and genetic features of families with Duchenne muscular dystrophy].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Yang, Li L; Xu, Xiao-Yan XY; Zhu, Jing J; Tang, Jiu-Lai JL; Wu, De

Publication Date: 2020-08

Variant appearance in text: DMD: 9568C>T; R3190X

PubMed Link: 32800034

Variant Present in the following documents:

• Main text

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Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.

Plos One

Kumar, Shalini H SH; Athimoolam, Kalpana K; Suraj, Manikandan M; Das Christu Das, Mary Shoba MS; Muralidharan, Aparna A; Jeyam, Divya D; Ashokan, Jaicy J; Karthikeyan, Priya P; Krishna, Ragav R; Khanna-Gupta, Arati A; Bremadesam Raman, Lakshmi L

Publication Date: 2020

Variant appearance in text: DMD: 9568C>T; Arg3190Ter

PubMed Link: 32559196

Variant Present in the following documents:

• Main text
• pone.0232654.pdf

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Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.

Bmc Medical Genetics

Zhang, Jingjing J; Ma, Dingyuan D; Liu, Gang G; Wang, Yuguo Y; Liu, An A; Li, Li L; Luo, Chunyu C; Hu, Ping P; Xu, Zhengfeng Z

Publication Date: 2019-11-14

Variant appearance in text: DMD: Arg3190*

PubMed Link: 31727011

Variant Present in the following documents:

• Main text
• 12881_2019_Article_912.pdf

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Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases

Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y

Publication Date: 2018-07-04

Variant appearance in text: DMD: 9568C>T; Arg3190*

PubMed Link: 29973226

Variant Present in the following documents:

• 13023_2018_853_MOESM1_ESM.pdf

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Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Circulation. Genomic And Precision Medicine

Yamamoto, Tetsushi T; Awano, Hiroyuki H; Zhang, Zhujun Z; Sakuma, Mio M; Kitaaki, Shoko S; Matsumoto, Masaaki M; Nagai, Masashi M; Sato, Itsuko I; Imanishi, Takamitsu T; Hayashi, Nobuhide N; Matsuo, Masafumi M; Iijima, Kazumoto K; Saegusa, Jun J

Publication Date: 2018-01

Variant appearance in text: DMD: 9568C>T

PubMed Link: 29874176

Variant Present in the following documents:

• hcg-11-e001782-s001.pdf

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A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Journal Of Clinical Laboratory Analysis

Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J

Publication Date: 2018-09

Variant appearance in text: DMD: 9568C>T; Arg3190X

PubMed Link: 29604111

Variant Present in the following documents:

• Main text

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: DMD: 9568C>T; Arg3190Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.

Bmc Bioinformatics

Zhou, Jiapeng J; Xin, Jing J; Niu, Yayun Y; Wu, Shiwen S

Publication Date: 2017-02-02

Variant appearance in text: DMD: 9568C>T

PubMed Link: 28152980

Variant Present in the following documents:

• Main text
• 12859_2017_Article_1504.pdf

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Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Journal Of Human Genetics

Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I

Publication Date: 2016-06

Variant appearance in text: DMD: 9568C>T

PubMed Link: 26911353

Variant Present in the following documents:

• Main text

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A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Orphanet Journal Of Rare Diseases

Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y

Publication Date: 2015-01-23

Variant appearance in text: DMD: 9568C>T; Arg3190X

PubMed Link: 25612904

Variant Present in the following documents:

• Main text
• 13023_2014_Article_220.pdf

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New trends in aminoglycosides use.

Medchemcomm

Fosso, Marina Y MY; Li, Yijia Y; Garneau-Tsodikova, Sylvie S

Publication Date: 2014-08-01

Variant appearance in text: DMD: R3190X

PubMed Link: 25071928

Variant Present in the following documents:

• Main text

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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 9568C>T; Arg3190X

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

European Journal Of Human Genetics : Ejhg

Mercier, Sandra S; Toutain, Annick A; Toussaint, Aurélie A; Raynaud, Martine M; de Barace, Claire C; Marcorelles, Pascale P; Pasquier, Laurent L; Blayau, Martine M; Espil, Caroline C; Parent, Philippe P; Journel, Hubert H; Lazaro, Leila L; Andoni Urtizberea, Jon J; Moerman, Alexandre A; Faivre, Laurence L; Eymard, Bruno B; Maincent, Kim K; Gherardi, Romain R; Chaigne, Denys D; Ben Yaou, Rabah R; Leturcq, France F; Chelly, Jamel J; Desguerre, Isabelle I

Publication Date: 2013-08

Variant appearance in text: DMD: 9568C>T; Arg3190X

PubMed Link: 23299919

Variant Present in the following documents:

• Main text

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