Publications:

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine

Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A

Publication Date: 2020

Variant appearance in text: DMD: 1087C>T; Gln363*

PubMed Link: 33083013

Variant Present in the following documents:

• 41525_2020_150_MOESM1_ESM.pdf

View BVdb publication page

Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy.

Scientific Reports

Sugihara, Hidetoshi H; Teramoto, Naomi N; Nakamura, Katsuyuki K; Shiga, Takanori T; Shirakawa, Taku T; Matsuo, Masafumi M; Ogasawara, Masashi M; Nishino, Ichizo I; Matsuwaki, Takashi T; Nishihara, Masugi M; Yamanouchi, Keitaro K

Publication Date: 2020-10-12

Variant appearance in text: DMD: 1087C>T; Q363X

PubMed Link: 33046751

Variant Present in the following documents:

• 41598_2020_73315_MOESM1_ESM.pdf

View BVdb publication page