Publications:

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Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion.

Genes

Wang, You Y; Zhou, Hang H; Fu, Fang F; Cheng, Ken K; Yu, Qiuxia Q; Huang, Ruibin R; Lei, Tingying T; Yang, Xin X; Li, Dongzhi D; Liao, Can C

Publication Date: 2022-12-08

Variant appearance in text: rs3809624

PubMed Link: 36553582

Variant Present in the following documents:

• Main text
• genes-13-02315.pdf

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs3809624

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra.

Genes

Zhou, Hang H; Wang, You Y; Huang, Ruibin R; Fu, Fang F; Li, Ru R; Cheng, Ken K; Wang, Dan D; Yu, Qiuxia Q; Zhang, Yongling Y; Jing, Xiangyi X; Lei, Tingying T; Han, Jin J; Yang, Xin X; Li, Dongzhi D; Liao, Can C

Publication Date: 2022-09-09

Variant appearance in text: rs3809624

PubMed Link: 36140791

Variant Present in the following documents:

• Main text
• genes-13-01623.pdf

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Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study.

Frontiers In Medicine

Zhang, Wenyan W; Yao, Ziming Z; Guo, Ruolan R; Li, Haichong H; Zhao, Shuang S; Li, Wei W; Zhang, Xuejun X; Hao, Chanjuan C

Publication Date: 2022

Variant appearance in text: rs3809624

PubMed Link: 36035411

Variant Present in the following documents:

• Main text
• fmed-09-941468.pdf

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Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.

Orphanet Journal Of Rare Diseases

Chen, Zefu Z; Yan, Zihui Z; Yu, Chenxi C; Liu, Jiaqi J; Zhang, Yanbin Y; Zhao, Sen S; Lin, Jiachen J; Zhang, Yuanqiang Y; Wang, Lianlei L; Lin, Mao M; Huang, Yingzhao Y; Li, Xiaoxin X; Niu, Yuchen Y; Wang, Shengru S; Wu, Zhihong Z; , ; Qiu, Guixing G; Zhang, Terry Jianguo TJ; Wu, Nan N

Publication Date: 2020-09-15

Variant appearance in text: rs3809624

PubMed Link: 32933559

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1537.pdf

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Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.

Molecular Genetics & Genomic Medicine

Xie, Hua H; Liu, Fang F; Zhang, Yu Y; Chen, Qian Q; Shangguan, Shaofang S; Gao, Zhijie Z; Wu, Nan N; Wang, Jian J; Cui, Xiaodai X; Wang, Lin L; Chen, Xiaoli X

Publication Date: 2020-11

Variant appearance in text: rs3809624

PubMed Link: 32870608

Variant Present in the following documents:

• Main text

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Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis.

Molecular Genetics & Genomic Medicine

Yang, Yang Y; Zhao, Sen S; Zhang, Yuanqiang Y; Wang, Shengru S; Shao, Jiashen J; Liu, Bowen B; Li, Yaqi Y; Yan, Zihui Z; Niu, Yuchen Y; Li, Xiaoxin X; Wang, Lianlei L; Ye, Yongyu Y; Weng, Xisheng X; Wu, Zhihong Z; , ; Zhang, Jianguo J; Wu, Nan N

Publication Date: 2020-10

Variant appearance in text: rs3809624

PubMed Link: 32815649

Variant Present in the following documents:

• Main text
• MGG3-8-e1453.pdf

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Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Kidney International

Yang, Nan N; Wu, Nan N; Dong, Shuangshuang S; Zhang, Ling L; Zhao, Yanxue Y; Chen, Weisheng W; Du, Renqian R; Song, Chengcheng C; Ren, Xiaojun X; Liu, Jiaqi J; Pehlivan, Davut D; Liu, Zhenlei Z; Rao, Jia J; Wang, Chunyan C; Zhao, Sen S; Breman, Amy M AM; Xue, Huadan H; Sun, Hao H; Shen, Jianxiong J; Zhang, Shuyang S; Posey, Jennifer E JE; Xu, Hong H; Jin, Li L; Zhang, Jianguo J; Liu, Pengfei P; Sanna-Cherchi, Simone S; Qiu, Guixing G; Wu, Zhihong Z; Lupski, James R JR; Zhang, Feng F

Publication Date: 2020-10

Variant appearance in text: rs3809624

PubMed Link: 32450157

Variant Present in the following documents:

• Main text

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A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.

Bmc Medical Genomics

Karolak, Justyna A JA; Gambin, Tomasz T; Honey, Engela M EM; Slavik, Tomas T; Popek, Edwina E; Stankiewicz, Paweł P

Publication Date: 2020-03-06

Variant appearance in text: rs3809624

PubMed Link: 32143628

Variant Present in the following documents:

• Main text
• 12920_2020_Article_701.pdf

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Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.

Frontiers In Genetics

Choy, Kwong Wai KW; Wang, Huilin H; Shi, Mengmeng M; Chen, Jingsi J; Yang, Zhenjun Z; Zhang, Rui R; Yan, Huanchen H; Wang, Yanfang Y; Chen, Shaoyun S; Chau, Matthew Hoi Kin MHK; Cao, Ye Y; Chan, Olivia Y M OYM; Kwok, Yvonne K YK; Zhu, Yuanfang Y; Chen, Min M; Leung, Tak Yeung TY; Dong, Zirui Z

Publication Date: 2019

Variant appearance in text: rs3809624

PubMed Link: 31475041

Variant Present in the following documents:

• Main text
• fgene-10-00761.pdf

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TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.

Human Mutation

Chen, Weisheng W; Lin, Jiachen J; Wang, Lianlei L; Li, Xiaoxin X; Zhao, Sen S; Liu, Jiaqi J; Akdemir, Zeynep C ZC; Zhao, Yanxue Y; Du, Renqian R; Ye, Yongyu Y; Song, Xiaofei X; Zhang, Yuanqiang Y; Yan, Zihui Z; Yang, Xinzhuang X; Lin, Mao M; Shen, Jianxiong J; Wang, Shengru S; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Zhang, Jianguo J; Delgado, Mauricio R MR; Posey, Jennifer E JE; Qiu, Guixing G; Rios, Jonathan J JJ; Liu, Pengfei P; Wise, Carol A CA; Zhang, Feng F; Wu, Zhihong Z; Lupski, James R JR; Wu, Nan N

Publication Date: 2020-01

Variant appearance in text: rs3809624

PubMed Link: 31471994

Variant Present in the following documents:

• Main text

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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.

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

Liu, Jiaqi J; Wu, Nan N; , ; Yang, Nan N; Takeda, Kazuki K; Chen, Weisheng W; Li, Weiyu W; Du, Renqian R; Liu, Sen S; Zhou, Yangzhong Y; Zhang, Ling L; Liu, Zhenlei Z; Zuo, Yuzhi Y; Zhao, Sen S; Blank, Robert R; Pehlivan, Davut D; Dong, Shuangshuang S; Zhang, Jianguo J; Shen, Jianxiong J; Si, Nuo N; Wang, Yipeng Y; Liu, Gang G; Li, Shugang S; Zhao, Yanxue Y; Zhao, Hong H; Chen, Yixin Y; Zhao, Yu Y; Song, Xiaofei X; Hu, Jianhua J; Lin, Mao M; Tian, Ye Y; Yuan, Bo B; Yu, Keyi K; Niu, Yuchen Y; Yu, Bin B; Li, Xiaoxin X; Chen, Jia J; Yan, Zihui Z; Zhu, Qiankun Q; Meng, Xiaolu X; Chen, Xiaoli X; Su, Jianzhong J; Zhao, Xiuli X; Wang, Xiaoyue X; Ming, Yue Y; Li, Xiao X; Raggio, Cathleen L CL; Zhang, Baozhong B; Weng, Xisheng X; Zhang, Shuyang S; Zhang, Xue X; Watanabe, Kota K; Matsumoto, Morio M; , ; Jin, Li L; Shen, Yiping Y; Sobreira, Nara L NL; Posey, Jennifer E JE; Giampietro, Philip F PF; Valle, David D; , ; Liu, Pengfei P; Wu, Zhihong Z; Ikegawa, Shiro S; Lupski, James R JR; Zhang, Feng F; Qiu, Guixing G

Publication Date: 2019-07

Variant appearance in text: rs3809624

PubMed Link: 30636772

Variant Present in the following documents:

• Main text

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TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.

Human Molecular Genetics

Yang, Nan N; Wu, Nan N; Zhang, Ling L; Zhao, Yanxue Y; Liu, Jiaqi J; Liang, Xiangyu X; Ren, Xiaojun X; Li, Weiyu W; Chen, Weisheng W; Dong, Shuangshuang S; Zhao, Sen S; Lin, Jiachen J; Xiang, Hang H; Xue, Huadan H; Chen, Lu L; Sun, Hao H; Zhang, Jianguo J; Shi, Jiangang J; Zhang, Shuyang S; Lu, Daru D; Wu, Xiaohui X; Jin, Li L; Ding, Jiandong J; Qiu, Guixing G; Wu, Zhihong Z; Lupski, James R JR; Zhang, Feng F

Publication Date: 2019-02-15

Variant appearance in text: rs3809624

PubMed Link: 30307510

Variant Present in the following documents:

• Main text

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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

Human Genetics

Liu, Jiaqi J; Zhou, Yangzhong Y; Liu, Sen S; Song, Xiaofei X; Yang, Xin-Zhuang XZ; Fan, Yanhui Y; Chen, Weisheng W; Akdemir, Zeynep Coban ZC; Yan, Zihui Z; Zuo, Yuzhi Y; Du, Renqian R; Liu, Zhenlei Z; Yuan, Bo B; Zhao, Sen S; Liu, Gang G; Chen, Yixin Y; Zhao, Yanxue Y; Lin, Mao M; Zhu, Qiankun Q; Niu, Yuchen Y; Liu, Pengfei P; Ikegawa, Shiro S; Song, You-Qiang YQ; Posey, Jennifer E JE; Qiu, Guixing G; , ; Zhang, Feng F; Wu, Zhihong Z; Lupski, James R JR; Wu, Nan N

Publication Date: 2018-07

Variant appearance in text: rs3809624

PubMed Link: 30019117

Variant Present in the following documents:

• Main text

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Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism.

Journal Of Cellular And Molecular Medicine

Zhu, Qiankun Q; Wu, Nan N; Liu, Gang G; Zhou, Yangzhong Y; Liu, Sen S; Chen, Jun J; Liu, Jiaqi J; Zuo, Yuzhi Y; Liu, Zhenlei Z; Chen, Weisheng W; Chen, Yixin Y; Chen, Jia J; Lin, Mao M; Zhao, Yanxue Y; Yang, Yang Y; Wang, Shensgru S; Yang, Xu X; Ma, Yufen Y; Wang, Jian J; Chen, Xiaoli X; Zhang, Jianguo J; Shen, Jianxiong J; Wu, Zhihong Z; Qiu, Guixing G

Publication Date: 2018-01

Variant appearance in text: rs3809624

PubMed Link: 28944995

Variant Present in the following documents:

• Main text
• JCMM-22-533.pdf

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Progress and perspective of TBX6 gene in congenital vertebral malformations.

Oncotarget

Chen, Weisheng W; Liu, Jiaqi J; Yuan, Dongtang D; Zuo, Yuzhi Y; Liu, Zhenlei Z; Liu, Sen S; Zhu, Qiankun Q; Qiu, Guixing G; Huang, Shishu S; Giampietro, Philip F PF; Zhang, Feng F; Wu, Nan N; Wu, Zhihong Z

Publication Date: 2016-08-30

Variant appearance in text: rs3809624

PubMed Link: 27437870

Variant Present in the following documents:

• Main text
• oncotarget-07-57430.pdf

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Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis.

Spine Deformity

Baschal, Erin E EE; Swindle, Kandice K; Justice, Cristina M CM; Baschal, Robin M RM; Perera, Anoja A; Wethey, Cambria I CI; Poole, Alex A; Pourquié, Olivier O; Tassy, Olivier O; Miller, Nancy H NH

Publication Date: 2015-07

Variant appearance in text: rs3809624

PubMed Link: 26120555

Variant Present in the following documents:

• Main text

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TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

The New England Journal Of Medicine

Wu, N N; Ming, X X; Xiao, J J; Wu, Z Z; Chen, X X; Shinawi, M M; Shen, Y Y; Yu, G G; Liu, J J; Xie, H H; Gucev, Z S ZS; Liu, S S; Yang, N N; Al-Kateb, H H; Chen, J J; Zhang, J J; Hauser, N N; Zhang, T T; Tasic, V V; Liu, P P; Su, X X; Pan, X X; Liu, C C; Wang, L L; Shen, J J; Shen, J J; Chen, Y Y; Zhang, T T; Zhang, J J; Choy, K W KW; Wang, J J; Wang, Q Q; Li, S S; Zhou, W W; Guo, J J; Wang, Y Y; Zhang, C C; Zhao, Hong H; An, Yu Y; Zhao, Yu Y; Wang, J J; Liu, Z Z; Zuo, Y Y; Tian, Y Y; Weng, X X; Sutton, V R VR; Wang, H H; Ming, Y Y; Kulkarni, S S; Zhong, T P TP; Giampietro, P F PF; Dunwoodie, S L SL; Cheung, S W SW; Zhang, X X; Jin, L L; Lupski, J R JR; Qiu, G G; Zhang, F F

Publication Date: 2015-01-22

Variant appearance in text: rs3809624

PubMed Link: 25564734

Variant Present in the following documents:

• Main text

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