Publications:

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: 9361+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 9361+1G>A

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.pdf

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Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene.

International Journal Of Molecular Sciences

Fukushima, Sachiyo S; Farea, Manal M; Maeta, Kazuhiro K; Rani, Abdul Qawee Mahyoob AQM; Fujioka, Kazumichi K; Nishio, Hisahide H; Matsuo, Masafumi M

Publication Date: 2020-11-30

Variant appearance in text: DMD: 9361+1G>A

PubMed Link: 33266296

Variant Present in the following documents:

• ijms-21-09136.pdf

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An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.

Bmc Nephrology

Yamamura, Tomohiko T; Nozu, Kandai K; Miyoshi, Yuya Y; Nakanishi, Keita K; Fujimura, Junya J; Horinouchi, Tomoko T; Minamikawa, Shogo S; Mori, Nobuo N; Fujimaru, Rika R; Nakanishi, Koichi K; Ninchoji, Takeshi T; Kaito, Hiroshi H; Mariko, Taniguchi-Ikeda TI; Morioka, Ichiro I; Matsuo, Masafumi M; Iijima, Kazumoto K

Publication Date: 2017-12-04

Variant appearance in text: DMD: 9361+1G>A

PubMed Link: 29202719

Variant Present in the following documents:

• 12882_2017_Article_774.pdf

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