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: 4996C>T; Arg1666Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction.

Communications Biology

Wilson, Darren Graham Samuel DGS; Tinker, Andrew A; Iskratsch, Thomas T

Publication Date: 2022-09-27

Variant appearance in text: DMD: 4996C>T

PubMed Link: 36168044

Variant Present in the following documents:

• Main text
• 42003_2022_Article_3980.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: R1666X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

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Long term treatment with ataluren-the Swedish experience.

Bmc Musculoskeletal Disorders

Michael, Eva E; Sofou, Kalliopi K; Wahlgren, Lisa L; Kroksmark, Anna-Karin AK; Tulinius, Már M

Publication Date: 2021-09-30

Variant appearance in text: DMD: R1666*

PubMed Link: 34592975

Variant Present in the following documents:

• Main text
• 12891_2021_Article_4700.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: 4996C>T

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.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: 4996C>T; Arg1666*

PubMed Link: 34078427

Variant Present in the following documents:

• 13023_2021_1853_MOESM1_ESM.pdf

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Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes.

Translational Psychiatry

Patel, Abdulsamie M AM; Wierda, Keimpe K; Thorrez, Lieven L; van Putten, Maaike M; De Smedt, Jonathan J; Ribeiro, Luis L; Tricot, Tine T; Gajjar, Madhavsai M; Duelen, Robin R; Van Damme, Philip P; De Waele, Liesbeth L; Goemans, Nathalie N; Tanganyika-de Winter, Christa C; Costamagna, Domiziana D; Aartsma-Rus, Annemieke A; van Duyvenvoorde, Hermine H; Sampaolesi, Maurilio M; Buyse, Gunnar M GM; Verfaillie, Catherine M CM

Publication Date: 2019-08-21

Variant appearance in text: DMD: 4996C>T

PubMed Link: 31434868

Variant Present in the following documents:

• Main text
• 41398_2019_Article_535.pdf
• 41398_2019_535_MOESM1_ESM.pdf
• 41398_2019_535_MOESM2_ESM.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: 4996C>T; Arg1666Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Frontiers In Genetics

Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y

Publication Date: 2019

Variant appearance in text: DMD: 4996C>T; Arg1666Ter

PubMed Link: 30833962

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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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: 4996C>T; Arg1666*

PubMed Link: 29973226

Variant Present in the following documents:

• 13023_2018_853_MOESM1_ESM.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: 4996C>T; Arg1666X

PubMed Link: 29604111

Variant Present in the following documents:

• Main text

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Repository of mutations from Oman: The entry point to a national mutation database.

F1000Research

Rajab, Anna A; Hamza, Nishath N; Al Harasi, Salma S; Al Lawati, Fatma F; Gibbons, Una U; Al Alawi, Intesar I; Kobus, Karoline K; Hassan, Suha S; Mahir, Ghariba G; Al Salmi, Qasim Q; Mons, Barend B; Robinson, Peter P

Publication Date: 2015

Variant appearance in text: DMD: 4996C>T

PubMed Link: 26594346

Variant Present in the following documents:

• Main text

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Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Bmc Medical Genetics

Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP

Publication Date: 2011-03-11

Variant appearance in text: DMD: 4996C>T; Arg1666X

PubMed Link: 21396098

Variant Present in the following documents:

• Main text
• 1471-2350-12-37.pdf

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One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd

Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2010-01

Variant appearance in text: DMD: 4996C>T; R1666X

PubMed Link: 19959795

Variant Present in the following documents:

• Main text

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