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: 355C>T; Gln119Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.

Plos One

Przybyła, Weronika W; Gjersvoll Paulsen, Kirsti Marie KM; Mishra, Charitra Kumar CK; Nygård, Ståle S; Engebretsen, Solveig S; Ruud, Ellen E; Trøen, Gunhild G; Beiske, Klaus K; Baumbusch, Lars Oliver LO

Publication Date: 2022

Variant appearance in text: DMD: 355C>T

PubMed Link: 36037157

Variant Present in the following documents:

• Main text
• pone.0273280.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: 355C>T

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_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: 355C>T

PubMed Link: 29874176

Variant Present in the following documents:

• hcg-11-e001782-s001.pdf

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Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

American Journal Of Medical Genetics. Part A

Cain, Jacob T JT; Kim, Dae I DI; Quast, Megan M; Shivega, Winnie G WG; Patrick, Ryan J RJ; Moser, Chuanpit C; Reuter, Suzanne S; Perez, Myrza M; Myers, Angela A; Weimer, Jill M JM; Roux, Kyle J KJ; Landsverk, Megan M

Publication Date: 2017-05

Variant appearance in text: DMD: 355C>T

PubMed Link: 28371199

Variant Present in the following documents:

• Main text

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DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Human Mutation

Gurvich, Olga L OL; Maiti, Baijayanta B; Weiss, Robert B RB; Aggarwal, Gaurav G; Howard, Michael T MT; Flanigan, Kevin M KM

Publication Date: 2009-04

Variant appearance in text: DMD: 355C>T

PubMed Link: 19206170

Variant Present in the following documents:

• Main text

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In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

Nucleic Acids Research

Sahashi, Kentaro K; Masuda, Akio A; Matsuura, Tohru T; Shinmi, Jun J; Zhang, Zhujun Z; Takeshima, Yasuhiro Y; Matsuo, Masafumi M; Sobue, Gen G; Ohno, Kinji K

Publication Date: 2007

Variant appearance in text: DMD: Q119X

PubMed Link: 17726045

Variant Present in the following documents:

• nar_gkm647_2.pdf

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Rapid direct sequence analysis of the dystrophin gene.

American Journal Of Human Genetics

Flanigan, Kevin M KM; von Niederhausern, Andrew A; Dunn, Diane M DM; Alder, Jonathan J; Mendell, Jerry R JR; Weiss, Robert B RB

Publication Date: 2003-04

Variant appearance in text: DMD: Gln119X

PubMed Link: 12632325

Variant Present in the following documents:

• Main text

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