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: 6128_6131del; Asp2043fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Genes

Alcántara-Ortigoza, Miguel Angel MA; Reyna-Fabián, Miriam Erandi ME; González-Del Angel, Ariadna A; Estandia-Ortega, Bernardette B; Bermúdez-López, Cesárea C; Cruz-Miranda, Gabriela Marisol GM; Ruíz-García, Matilde M

Publication Date: 2019-10-29

Variant appearance in text: DMD: 6128_6131del; Asp2043Valfs

PubMed Link: 31671740

Variant Present in the following documents:

• Main text
• genes-10-00856.pdf

View BVdb publication page

Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.

Bmc Medical Genetics

Kong, Xiangdong X; Zhong, Xingjian X; Liu, Lina L; Cui, Siying S; Yang, Yuxia Y; Kong, Lingrong L

Publication Date: 2019-08-14

Variant appearance in text: DMD: 6128_6131delATAG

PubMed Link: 31412794

Variant Present in the following documents:

• Main text
• 12881_2019_Article_873.pdf

View BVdb publication page

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Plos One

Juan-Mateu, Jonas J; Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Baena, Manel M; Verdura, Edgard E; Nascimento, Andres A; Ortez, Carlos C; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2015

Variant appearance in text: DMD: 6128_6131del

PubMed Link: 26284620

Variant Present in the following documents:

• Main text
• pone.0135189.pdf

View BVdb publication page

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 6128_6131del; Asp2043ValfsX29

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

View BVdb publication page