Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: USH2A: 8351T>G; Ile2784Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.

Journal Of Ophthalmology

Arai, Yuuki Y; Maeda, Akiko A; Hirami, Yasuhiko Y; Ishigami, Chie C; Kosugi, Shinji S; Mandai, Michiko M; Kurimoto, Yasuo Y; Takahashi, Masayo M

Publication Date: 2015

Variant appearance in text: USH2A: 8351T>G

PubMed Link: 26161267

Variant Present in the following documents:

• Main text
• JOPH2015-819760.pdf

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Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.

Plos One

Hosono, Katsuhiro K; Ishigami, Chie C; Takahashi, Masayo M; Park, Dong Ho DH; Hirami, Yasuhiko Y; Nakanishi, Hiroshi H; Ueno, Shinji S; Yokoi, Tadashi T; Hikoya, Akiko A; Fujita, Taichi T; Zhao, Yang Y; Nishina, Sachiko S; Shin, Jae Pil JP; Kim, In Taek IT; Yamamoto, Shuichi S; Azuma, Noriyuki N; Terasaki, Hiroko H; Sato, Miho M; Kondo, Mineo M; Minoshima, Shinsei S; Hotta, Yoshihiro Y

Publication Date: 2012

Variant appearance in text: USH2A: 8351T>G

PubMed Link: 22363543

Variant Present in the following documents:

• Main text

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