Publications:

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: MYH9: 1728+10G>A; rs2413396

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: MYH9: 1728+10G>A; rs2413396

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine

Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y

Publication Date: 2022

Variant appearance in text: MYH9: 1728+10G>A; rs2413396

PubMed Link: 36277747

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs2413396

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2413396

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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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: MYH9: 1728+10G>A; rs2413396

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 3
• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1
• 12920_2022_1315_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Annals Of Human Genetics

Zhang, Dejun D; Wu, Jie J; Yuan, Yongyi Y; Li, Xiaohong X; Gao, Xue X; Han, Mingyu M; Gao, Song S; Huang, Shasha S; Dai, Pu P

Publication Date: 2022-07

Variant appearance in text: rs2413396

PubMed Link: 35292975

Variant Present in the following documents:

• AHG-86-207-s002.xlsx, sheet 1

View BVdb publication page

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Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology

Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP

Publication Date: 2021

Variant appearance in text: rs2413396

PubMed Link: 34692690

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: MYH9: 1728+10G>A; rs2413396

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs2413396

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs2413396

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: rs2413396

PubMed Link: 32090102

Variant Present in the following documents:

• 6370386.f1.xlsx, sheet 2

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: MYH9: 1728+10G>A; rs2413396

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: MYH9: 1728+10G>A; rs2413396

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs2413396

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_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: MYH9: 1728+10G>A; rs2413396

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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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: rs2413396

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2413396

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2413396

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Clinical perspectives on lupus genetics: advances and opportunities.

Rheumatic Diseases Clinics Of North America

James, Judith A JA

Publication Date: 2014-08

Variant appearance in text: rs2413396

PubMed Link: 25034154

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic contribution and associated pathophysiology in end-stage renal disease.

The Application Of Clinical Genetics

Agrawal, Suraksha S; Agarwal, Ss S; Naik, Sita S

Publication Date: 2010

Variant appearance in text: rs2413396

PubMed Link: 23776353

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epistatic role of the MYH9/APOL1 region on familial hematuria genes.

Plos One

Voskarides, Konstantinos K; Demosthenous, Panayiota P; Papazachariou, Louiza L; Arsali, Maria M; Athanasiou, Yiannis Y; Zavros, Michalis M; Stylianou, Kostas K; Xydakis, Dimitris D; Daphnis, Eugenios E; Gale, Daniel P DP; Maxwell, Patrick H PH; Elia, Avraam A; Pattaro, Cristian C; Pierides, Alkis A; Deltas, Constantinos C

Publication Date: 2013

Variant appearance in text: rs2413396

PubMed Link: 23516419

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the non-muscle myosin heavy chain gene (MYH9) are associated with lower glomerular filtration rate in mixed ancestry diabetic subjects from South Africa.

Plos One

Matsha, Tandi Edith TE; Masconi, Katya K; Yako, Yandiswa Yolanda YY; Hassan, Mogamat Shafick MS; Macharia, Muiriri M; Erasmus, Rajiv Timothy RT; Kengne, Andre Pascal AP

Publication Date: 2012

Variant appearance in text: rs2413396

PubMed Link: 23285077

Variant Present in the following documents:

• Main text
• pone.0052529.pdf

View BVdb publication page

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Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis.

Genes And Immunity

Lin, C P CP; Adrianto, I I; Lessard, C J CJ; Kelly, J A JA; Kaufman, K M KM; Guthridge, J M JM; Freedman, B I BI; Anaya, J-M JM; Alarcón-Riquelme, M E ME; , ; Pons-Estel, B A BA; Martin, J J; Glenn, S S; Adler, A A; Bae, S-C SC; Park, S-Y SY; Bang, S-Y SY; Song, Y-W YW; Boackle, S A SA; Brown, E E EE; Edberg, J C JC; Alarcón, G S GS; Petri, M A MA; Criswell, L A LA; Ramsey-Goldman, R R; Reveille, J D JD; Vila, L M LM; Gilkeson, G S GS; Kamen, D L DL; Ziegler, J J; Jacob, C O CO; Rasmussen, A A; James, J A JA; Kimberly, R P RP; Merrill, J T JT; Niewold, T B TB; Scofield, R H RH; Stevens, A M AM; Tsao, B P BP; Vyse, T J TJ; Langefeld, C D CD; Moser, K L KL; Harley, J B JB; Gaffney, P M PM; Montgomery, C G CG

Publication Date: 2012-04

Variant appearance in text: rs2413396

PubMed Link: 22189356

Variant Present in the following documents:

• Main text

View BVdb publication page

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African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.

Human Molecular Genetics

Behar, Doron M DM; Rosset, Saharon S; Tzur, Shay S; Selig, Sara S; Yudkovsky, Guennady G; Bercovici, Sivan S; Kopp, Jeffrey B JB; Winkler, Cheryl A CA; Nelson, George W GW; Wasser, Walter G WG; Skorecki, Karl K

Publication Date: 2010-05-01

Variant appearance in text: rs2413396

PubMed Link: 20144966

Variant Present in the following documents:

• Main text
• ddq040.pdf

View BVdb publication page

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Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15.

Human Molecular Genetics

Nelson, George W GW; Freedman, Barry I BI; Bowden, Donald W DW; Langefeld, Carl D CD; An, Ping P; Hicks, Pamela J PJ; Bostrom, Meredith A MA; Johnson, Randall C RC; Kopp, Jeffrey B JB; Winkler, Cheryl A CA

Publication Date: 2010-05-01

Variant appearance in text: rs2413396

PubMed Link: 20124285

Variant Present in the following documents:

• Main text

View BVdb publication page

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