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: USH2A: 13112_13115del; Gln4371fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: USH2A: 13112_13115delAAAT; Gln4371fs

PubMed Link: 35864128

Variant Present in the following documents:

• 41598_2022_16661_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: USH2A: 13112_13115delAAAT; Gln4371Argfs*19

PubMed Link: 34593925

Variant Present in the following documents:

• 41598_2021_99007_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Simpler and effective radiological evaluations for modiolar proximity of a slim modiolar cochlear implant electrode.

Scientific Reports

Lee, Sang-Yeon SY; Han, Jin Hee JH; Carandang, Marge M; Bae, Yun Jung YJ; Choi, Byung Yoon BY

Publication Date: 2020-10-19

Variant appearance in text: USH2A: 13112_13115del; Gln4371Argfs*19

PubMed Link: 33077822

Variant Present in the following documents:

• 41598_2020_74738_MOESM1_ESM.pdf

View BVdb publication page

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Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Scientific Reports

Jauregui, Ruben R; Chan, Lawrence L; Oh, Jin Kyun JK; Cho, Ahra A; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-02-25

Variant appearance in text: USH2A: 13112_13115delAAAT

PubMed Link: 32098976

Variant Present in the following documents:

• 41598_2020_60137_MOESM1_ESM.pdf

View BVdb publication page

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Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation.

Clinical And Experimental Otorhinolaryngology

Lee, Sang-Yeon SY; Joo, Kwangsic K; Oh, Jayoung J; Han, Jin Hee JH; Park, Hye-Rim HR; Lee, Seungmin S; Oh, Doo-Yi DY; Woo, Se Joon SJ; Choi, Byung Yoon BY

Publication Date: 2020-05

Variant appearance in text: USH2A: 13112_13115delAAAT

PubMed Link: 31674169

Variant Present in the following documents:

• Main text
• ceo-2019-00990.pdf

View BVdb publication page

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Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

Scientific Reports

Sengillo, Jesse D JD; Cabral, Thiago T; Schuerch, Kaspar K; Duong, Jimmy J; Lee, Winston W; Boudreault, Katherine K; Xu, Yu Y; Justus, Sally S; Sparrow, Janet R JR; Mahajan, Vinit B VB; Tsang, Stephen H SH

Publication Date: 2017-09-11

Variant appearance in text: USH2A: 13112_13115delAAAT

PubMed Link: 28894305

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11679.pdf
• 41598_2017_11679_MOESM1_ESM.pdf

View BVdb publication page

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