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: 3295C>T; Gln1099Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Body composition and myokines in a cohort of patients with Becker muscular dystrophy.

Muscle & Nerve

Barp, Andrea A; Carraro, Elena E; Goggi, Giovanni G; Lizio, Andrea A; Zanolini, Alice A; Messina, Carmelo C; Perego, Silvia S; Verdelli, Chiara C; Lombardi, Giovanni G; Sansone, Valeria Ada VA; Corbetta, Sabrina S

Publication Date: 2022-07

Variant appearance in text: DMD: Gln1099*

PubMed Link: 35474226

Variant Present in the following documents:

• Main text

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Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants.

Frontiers In Neurology

Fornander, Freja F; Solheim, Tuva Åsatun TÅ; Eisum, Anne-Sofie Vibæk AV; Poulsen, Nanna Scharff NS; Andersen, Annarita Ghosh AG; Dahlqvist, Julia Rebecka JR; Dunø, Morten M; Vissing, John J

Publication Date: 2021

Variant appearance in text: DMD: 3295C>T

PubMed Link: 34539555

Variant Present in the following documents:

• Main text
• fneur-12-707837.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: 3295C>T

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.pdf

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Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Human Genetics

Okubo, Mariko M; Noguchi, Satoru S; Hayashi, Shinichiro S; Nakamura, Harumasa H; Komaki, Hirofumi H; Matsuo, Masafumi M; Nishino, Ichizo I

Publication Date: 2020-02

Variant appearance in text: DMD: Gln1099*

PubMed Link: 31919629

Variant Present in the following documents:

• Main text
• 439_2019_Article_2107.pdf

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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: 3295C>T; Gln1099Ter

PubMed Link: 30833962

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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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: 3295C>T; Gln1099X

PubMed Link: 29604111

Variant Present in the following documents:

• Main text

View BVdb publication page

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