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: 6628C>G; Pro2210Ala

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.

Frontiers In Pediatrics

Zhang, Wen W; Dai, Xiaohui X; Liu, Hanmin H; Li, Lei L; Zhou, Shu S; Zhu, Qi Q; Chen, Jiao J

Publication Date: 2022

Variant appearance in text: USH2A: 6628C>G; P2210A; rs192115090

PubMed Link: 36507129

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

---

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: USH2A: 6628C>G; Pro2210Ala; rs192115090

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_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: rs192115090

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

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: P2210A

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

---

Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.

Bioscience Reports

Qu, Ling-Hui LH; Jin, Xin X; Long, Yan-Ling YL; Ren, Jia-Yun JY; Weng, Chuang-Huang CH; Xu, Hai-Wei HW; Liu, Yong Y; Meng, Xiao-Hong XH; Li, Shi-Ying SY; Yin, Zheng-Qin ZQ

Publication Date: 2020-01-31

Variant appearance in text: USH2A: 6628C>G; P2210A

PubMed Link: 31904091

Variant Present in the following documents:

• Main text
• bsr-40-bsr20193536.pdf

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: P2210A

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 43

View BVdb publication page

---

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: USH2A: 6628C>G; P2210A

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.

Eye (London, England)

Huang, Lulin L; Mao, Yao Y; Yang, Jiyun J; Li, Yuanfeng Y; Li, Yang Y; Yang, Zhenglin Z

Publication Date: 2018-10

Variant appearance in text: USH2A: P2210A; rs192115090

PubMed Link: 29899460

Variant Present in the following documents:

• 41433_2018_130_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: USH2A: 6628C>G; P2210A; rs192115090

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 2
• pone.0140684.s004.xlsx, sheet 4

View BVdb publication page

---

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Plos One

Watson, Christopher M CM; El-Asrag, Mohammed M; Parry, David A DA; Morgan, Joanne E JE; Logan, Clare V CV; Carr, Ian M IM; Sheridan, Eamonn E; Charlton, Ruth R; Johnson, Colin A CA; Taylor, Graham G; Toomes, Carmel C; McKibbin, Martin M; Inglehearn, Chris F CF; Ali, Manir M

Publication Date: 2014

Variant appearance in text: USH2A: 6628C>G; Pro2210Ala

PubMed Link: 25133751

Variant Present in the following documents:

• pone.0104281.s001.pdf

View BVdb publication page

---