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: 15233C>G; Pro5078Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

Human Genomics

Ma, Jing J; Ma, Xiuli X; Lin, Ken K; Huang, Rui R; Bi, Xianyun X; Ming, Cheng C; Li, Li L; Li, Xia X; Li, Guo G; Zhao, Liping L; Yang, Tao T; Gao, Yingqin Y; Zhang, Tiesong T

Publication Date: 2023-01-04

Variant appearance in text: USH2A: 15233C>G; Pro5078Arg

PubMed Link: 36597107

Variant Present in the following documents:

• 40246_2022_449_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology

Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD

Publication Date: 2022-03-26

Variant appearance in text: USH2A: 15233C>G; P5078R; rs527236122

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM2_ESM.xlsx, sheet 1
• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics

Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG

Publication Date: 2021-03-10

Variant appearance in text: USH2A: P5078R

PubMed Link: 33691693

Variant Present in the following documents:

• 12920_2021_874_MOESM1_ESM.xlsx, sheet 1
• 12920_2021_874_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.

International Journal Of Molecular Sciences

Inaba, Akira A; Maeda, Akiko A; Yoshida, Akiko A; Kawai, Kanako K; Hirami, Yasuhiko Y; Kurimoto, Yasuo Y; Kosugi, Shinji S; Takahashi, Masayo M

Publication Date: 2020-10-22

Variant appearance in text: USH2A: 15233C>G; Pro5078Arg

PubMed Link: 33105608

Variant Present in the following documents:

• Main text
• ijms-21-07817.pdf

View BVdb publication page

---

A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: P5078R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

---

Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.

Investigative Ophthalmology & Visual Science

Koyanagi, Yoshito Y; Ueno, Shinji S; Ito, Yasuki Y; Kominami, Taro T; Komori, Shiori S; Akiyama, Masato M; Murakami, Yusuke Y; Ikeda, Yasuhiro Y; Sonoda, Koh-Hei KH; Terasaki, Hiroko H

Publication Date: 2020-08-03

Variant appearance in text: USH2A: Pro5078Arg

PubMed Link: 32749464

Variant Present in the following documents:

• Main text
• iovs-61-10-6.pdf

View BVdb publication page

---

Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.

Computational And Structural Biotechnology Journal

Yu, Dongmei D; Zou, Junhuang J; Chen, Qian Q; Zhu, Tian T; Sui, Ruifang R; Yang, Jun J

Publication Date: 2020

Variant appearance in text: USH2A: 15233C>G

PubMed Link: 32637036

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: USH2A: 15233C>G; Pro5078Arg; rs527236122

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: USH2A: 15233C>G; Pro5078Arg; rs527236122

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

---

Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: USH2A: P5078R

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 43

View BVdb publication page

---

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

American Journal Of Human Genetics

Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH

Publication Date: 2018-10-04

Variant appearance in text: USH2A: 15233C>G; Pro5078Arg

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID

Publication Date: 2018-12

Variant appearance in text: USH2A: 15233C>G

PubMed Link: 29907799

Variant Present in the following documents:

• 41436_2018_4_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Plos One

Miyagawa, Maiko M; Naito, Takehiko T; Nishio, Shin-ya SY; Kamatani, Naoyuki N; Usami, Shin-ichi S

Publication Date: 2013

Variant appearance in text: USH2A: 15233C>G; P5078R

PubMed Link: 23967202

Variant Present in the following documents:

• pone.0071381.s004.pdf

View BVdb publication page

---