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: 4000G>T; Gly1334Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One

Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2020

Variant appearance in text: DMD: 4000G>T; Gly1334*

PubMed Link: 32813700

Variant Present in the following documents:

• Main text
• pone.0237803.pdf

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PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One

Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2020

Variant appearance in text: DMD: Gly1334*

PubMed Link: 32315351

Variant Present in the following documents:

• pone.0231728.s001.pdf

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Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Bmc Medical Genomics

Rao, Aditya A; Vg, Saipradeep S; Joseph, Thomas T; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2018-07-06

Variant appearance in text: DMD: Gly1334*

PubMed Link: 29980210

Variant Present in the following documents:

• 12920_2018_372_MOESM1_ESM.pdf

View BVdb publication page