Publications:

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A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report.

Medicine

Mizumoto, Keitaro K; Kato, Kumiko K; Fujinami, Kaoru K; Sugita, Tadasu T; Sugita, Iichiro I; Hattori, Ayako A; Saitoh, Shinji S; Ueno, Shinji S; Tsunoda, Kazushige K; Iwata, Takeshi T; Kondo, Mineo M

Publication Date: 2022-12-16

Variant appearance in text: BBS7: 728G>A; Cys243Tyr

PubMed Link: 36550847

Variant Present in the following documents:

• Main text
• medi-101-e32161.pdf

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: BBS7: 728G>A

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.

Frontiers In Cell And Developmental Biology

Meng, Xiaohong X; Long, Yanling Y; Ren, Jiayun J; Wang, Gang G; Yin, Xin X; Li, Shiying S

Publication Date: 2021

Variant appearance in text: BBS7: 728G>A; C243Y; rs727503821

PubMed Link: 33777945

Variant Present in the following documents:

• Main text
• fcell-09-635216.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: BBS7: 728G>A; Cys243Tyr; rs727503821

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient.

Korean Journal Of Ophthalmology : Kjo

Kim, Yong Hoon YH; Joo, Kwang Sic KS; Seong, Moon Woo MW; Park, Sung Sup SS; Woo, Se Joon SJ

Publication Date: 2020-02

Variant appearance in text: BBS7: 728G>A; Cys243Tyr

PubMed Link: 32037757

Variant Present in the following documents:

• Main text
• kjo-34-94.pdf

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: BBS7: C243Y

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

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The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.

Plos One

Hirano, Makito M; Satake, Wataru W; Ihara, Kenji K; Tsuge, Ikuya I; Kondo, Shuji S; Saida, Ken K; Betsui, Hiroyuki H; Okubo, Kazuhiro K; Sakamoto, Hikaru H; Ueno, Shuichi S; Ikuno, Yasushi Y; Ishihara, Ryu R; Iwahashi, Hiromi H; Ohishi, Mitsuru M; Mano, Toshiyuki T; Yamashita, Toshihide T; Suzuki, Yutaka Y; Nakamura, Yusaku Y; Kusunoki, Susumu S; Toda, Tatsushi T

Publication Date: 2015

Variant appearance in text: BBS7: C243Y

PubMed Link: 26325687

Variant Present in the following documents:

• Main text

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Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.

Annals Of Laboratory Medicine

Shin, Seok Joon SJ; Kim, Myungshin M; Chae, Hyojin H; Kwon, Ahlm A; Kim, Yonggoo Y; Kim, Sung Jun SJ; Yoon, Hye Eun HE; Jekarl, Dong Wook DW; Lee, Seungok S

Publication Date: 2015-01

Variant appearance in text: BBS7: 728G>A; Cys243Tyr

PubMed Link: 25553308

Variant Present in the following documents:

• Main text
• alm-35-181.pdf

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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Journal Of Medical Genetics

Wang, Xia X; Wang, Hui H; Sun, Vincent V; Tuan, Han-Fang HF; Keser, Vafa V; Wang, Keqing K; Ren, Huanan H; Lopez, Irma I; Zaneveld, Jacques E JE; Siddiqui, Sorath S; Bowles, Stephanie S; Khan, Ayesha A; Salvo, Jason J; Jacobson, Samuel G SG; Iannaccone, Alessandro A; Wang, Feng F; Birch, David D; Heckenlively, John R JR; Fishman, Gerald A GA; Traboulsi, Elias I EI; Li, Yumei Y; Wheaton, Dianna D; Koenekoop, Robert K RK; Chen, Rui R

Publication Date: 2013-10

Variant appearance in text: BBS7: 728G>A; C243Y

PubMed Link: 23847139

Variant Present in the following documents:

• Main text

View BVdb publication page

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