Publications:

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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: 10033C>T; Arg3345Ter

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: R3345X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

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Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications

Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R

Publication Date: 2021-06-17

Variant appearance in text: DMD: 10033C>T

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.pdf

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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: 10033C>T; Arg3345Ter

PubMed Link: 32559196

Variant Present in the following documents:

• Main text
• pone.0232654.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: DMD: 10033C>T; Arg3345Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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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: 10033C>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: 10033C>T; Arg3345X

PubMed Link: 29604111

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: 10033C>T; Arg3345X

PubMed Link: 23536893

Variant Present in the following documents:

• Main text

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Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Bmc Medical Genetics

Brioschi, Simona S; Gualandi, Francesca F; Scotton, Chiara C; Armaroli, Annarita A; Bovolenta, Matteo M; Falzarano, Maria S MS; Sabatelli, Patrizia P; Selvatici, Rita R; D'Amico, Adele A; Pane, Marika M; Ricci, Giulia G; Siciliano, Gabriele G; Tedeschi, Silvana S; Pini, Antonella A; Vercelli, Liliana L; De Grandis, Domenico D; Mercuri, Eugenio E; Bertini, Enrico E; Merlini, Luciano L; Mongini, Tiziana T; Ferlini, Alessandra A

Publication Date: 2012-08-16

Variant appearance in text: DMD: 10033C>T; R3345X

PubMed Link: 22894145

Variant Present in the following documents:

• Main text
• 1471-2350-13-73.pdf

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