Publications:

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Scientific Reports

Kim, So Young SY; Kim, Bong Jik BJ; Oh, Doo Yi DY; Han, Jin Hee JH; Yi, Nayoung N; Kim, Namju Justin NJ; Park, Moo Kyun MK; Keum, Changwon C; Seo, Go Hun GH; Choi, Byung Yoon BY

Publication Date: 2022-07-21

Variant appearance in text: TPRN: 176A>G

PubMed Link: 35864128

Variant Present in the following documents:

• 41598_2022_16661_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.

Scientific Reports

Kim, So Young SY; Lee, Seungmin S; Seo, Go Hun GH; Kim, Bong Jik BJ; Oh, Doo Yi DY; Han, Jin Hee JH; Park, Moo Kyun MK; Lee, So Min SM; Kim, Bonggi B; Yi, Nayoung N; Kim, Namju Justin NJ; Koh, Doo Hyun DH; Hwang, Sohyun S; Keum, Changwon C; Choi, Byung Yoon BY

Publication Date: 2021-09-30

Variant appearance in text: TPRN: 176A>G

PubMed Link: 34593925

Variant Present in the following documents:

• 41598_2021_99007_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page