Publications:

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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: MYO15A: 3026C>A; Pro1009His

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.

Bmc Medical Genomics

Yang, Jin-Yuan JY; Wang, Wei-Qian WQ; Han, Ming-Yu MY; Huang, Sha-Sha SS; Wang, Guo-Jian GJ; Su, Yu Y; Xu, Jin-Cao JC; Fu, Ying Y; Kang, Dong-Yang DY; Yang, Kun K; Zhang, Xin X; Liu, Xing X; Gao, Xue X; Yuan, Yong-Yi YY; Dai, Pu P

Publication Date: 2022-11-18

Variant appearance in text: MYO15A: Pro1009His

PubMed Link: 36401330

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1368.pdf

View BVdb publication page

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Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.

Bmc Medical Genomics

Fu, Ying Y; Huang, Shasha S; Gao, Xue X; Han, Mingyu M; Wang, Guojian G; Kang, Dongyang D; Yuan, Yongyi Y; Dai, Pu P

Publication Date: 2022-03-26

Variant appearance in text: MYO15A: Pro1009His

PubMed Link: 35346193

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1201.pdf

View BVdb publication page

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Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Neural Plasticity

Wang, Xiao-Hui XH; Xie, Le L; Chen, Sen S; Xu, Kai K; Bai, Xue X; Jin, Yuan Y; Qiu, Yue Y; Liu, Xiao-Zhou XZ; Sun, Yu Y; Kong, Wei-Jia WJ

Publication Date: 2021

Variant appearance in text: MYO15A: P1009H

PubMed Link: 34093702

Variant Present in the following documents:

• NP2021-9957712.pdf

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Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Plos Neglected Tropical Diseases

Xing, Yan Y; He, Jun J; Wen, Yan Y; Liu, Jian J; You, Yuangang Y; Weng, Xiaoman X; Yuan, Lianchao L; Xiong, Li L; Chen, Xiaohua X; Zhang, Ying Y; Li, Huan-Ying HY

Publication Date: 2020-12

Variant appearance in text: MYO15A: P1009H; rs117612144

PubMed Link: 33362202

Variant Present in the following documents:

• pntd.0008883.s010.xlsx, sheet 1

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Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family.

Neural Plasticity

Wang, Longhao L; Zhao, Lin L; Peng, Hu H; Xu, Jun J; Lin, Yun Y; Yang, Tao T; Wu, Hao H

Publication Date: 2020

Variant appearance in text: MYO15A: P1009H

PubMed Link: 32617096

Variant Present in the following documents:

• NP2020-6350479.pdf

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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: MYO15A: 3026C>A; Pro1009His; rs117612144

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.

Biomed Research International

Huang, Shasha S; Gao, Xue X; Wang, Yufeng Y; Kang, Dongyang D; Zhang, Xin X; Yang, Suyan S; Dai, Pu P

Publication Date: 2020

Variant appearance in text: MYO15A: 3026C>A; Pro1009His; rs117612144

PubMed Link: 32090102

Variant Present in the following documents:

• 6370386.f1.xlsx, sheet 3
• 6370386.f1.xlsx, sheet 2

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: MYO15A: P1009H; rs117612144

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations.

Clinical Medicine Insights. Case Reports

Akbariazar, Elinaz E; Vahabi, Ali A; Abdi Rad, Isa I

Publication Date: 2019

Variant appearance in text: MYO15A: P1009H

PubMed Link: 31579092

Variant Present in the following documents:

• Main text
• 10.1177_1179547619871907.pdf

View BVdb publication page

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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: MYO15A: P1009H

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 49
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 47
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 54
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 52
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 51

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: MYO15A: 3026C>A; Pro1009His

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.

Medicine

Sun, Yan Y; Yuan, Jing J; Wu, Limin L; Li, Min M; Cui, Xiaoli X; Yan, Chengbin C; Du, Lique L; Mao, Liangwei L; Man, Jianfen J; Li, Wei W; Kristiansen, Karsten K; Wu, Xuan X; Pan, Weijun W; Yang, Yun Y

Publication Date: 2019-03

Variant appearance in text: MYO15A: 3026C>A; Pro1009His

PubMed Link: 30896630

Variant Present in the following documents:

• medi-98-e14860.pdf

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Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.

Scientific Reports

Rim, John Hoon JH; Lee, Joon Suk JS; Jung, Jinsei J; Lee, Ji Hyun JH; Lee, Seung-Tae ST; Choi, Jong Rak JR; Choi, Jae Young JY; Lee, Min Goo MG; Gee, Heon Yung HY

Publication Date: 2019-03-14

Variant appearance in text: MYO15A: 3026C>A; Pro1009His; rs117612144

PubMed Link: 30872718

Variant Present in the following documents:

• Main text

View BVdb publication page

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Stress-induced precocious aging in PD-patient iPSC-derived NSCs may underlie the pathophysiology of Parkinson's disease.

Cell Death & Disease

Zhu, Liang L; Sun, Chenxi C; Ren, Jie J; Wang, Guangming G; Ma, Rongjie R; Sun, Lixin L; Yang, Danjing D; Gao, Shane S; Ning, Ke K; Wang, Zhigang Z; Chen, Xu X; Chen, Shengdi S; Zhu, Hongwen H; Gao, Zhengliang Z; Xu, Jun J

Publication Date: 2019-02-04

Variant appearance in text: rs117612144

PubMed Link: 30718471

Variant Present in the following documents:

• 41419_2019_1313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MYO15A: 3026C>A; Pro1009His; rs117612144

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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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: MYO15A: 3026C>A; Pro1009His

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: MYO15A: 3026C>A; P1009H; rs117612144

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.

Neural Plasticity

Zhang, Fengguo F; Xu, Lei L; Xiao, Yun Y; Li, Jianfeng J; Bai, Xiaohui X; Wang, Haibo H

Publication Date: 2018

Variant appearance in text: MYO15A: P1009H

PubMed Link: 29849560

Variant Present in the following documents:

• NP2018-5898025.pdf

View BVdb publication page

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Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Human Mutation

Rehman, Atteeq U AU; Bird, Jonathan E JE; Faridi, Rabia R; Shahzad, Mohsin M; Shah, Sujay S; Lee, Kwanghyuk K; Khan, Shaheen N SN; Imtiaz, Ayesha A; Ahmed, Zubair M ZM; Riazuddin, Saima S; Santos-Cortez, Regie Lyn P RL; Ahmad, Wasim W; Leal, Suzanne M SM; Riazuddin, Sheikh S; Friedman, Thomas B TB

Publication Date: 2016-10

Variant appearance in text: MYO15A: 3026C>A

PubMed Link: 27375115

Variant Present in the following documents:

• Main text

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: MYO15A: P1009H

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: MYO15A: P1009H; rs117612144

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

Orphanet Journal Of Rare Diseases

Yang, Tao T; Wei, Xiaoming X; Chai, Yongchuan Y; Li, Lei L; Wu, Hao H

Publication Date: 2013-06-14

Variant appearance in text: MYO15A: 3026C>A; P1009H

PubMed Link: 23767834

Variant Present in the following documents:

• Main text

View BVdb publication page

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