Publications:

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: SECISBP2: 589C>T; R197X; rs764344701

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

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Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.

Frontiers In Endocrinology

Lee, Kyu Won KW; Shin, Yoochan Y; Lee, Sungahn S; Lee, Sihoon S

Publication Date: 2021

Variant appearance in text: SECISBP2: 589C>T; R197X

PubMed Link: 35126314

Variant Present in the following documents:

• Main text

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Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

International Journal Of Molecular Sciences

Schoenmakers, Erik E; Chatterjee, Krishna K

Publication Date: 2021-11-29

Variant appearance in text: SECISBP2: 589C>T

PubMed Link: 34884733

Variant Present in the following documents:

• Main text
• ijms-22-12927.pdf

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Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

International Journal Of Molecular Sciences

Schoenmakers, Erik E; Chatterjee, Krishna K

Publication Date: 2021-11-29

Variant appearance in text: SECISBP2: 589C>T

PubMed Link: 34884733

Variant Present in the following documents:

• Main text
• ijms-22-12927.pdf

View BVdb publication page

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Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

The Journal Of Clinical Endocrinology And Metabolism

Fu, Jiao J; Korwutthikulrangsri, Manassawee M; Gönç, E Nazli EN; Sillers, Laura L; Liao, Xiao-Hui XH; Alikaşifoğlu, Ayfer A; Kandemir, Nurgün N; Menucci, Maria Belen MB; Burman, Kenneth D KD; Weiss, Roy E RE; Dumitrescu, Alexandra M AM

Publication Date: 2020-03-01

Variant appearance in text: SBP2: 589C>T

PubMed Link: 32084277

Variant Present in the following documents:

• Main text

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: SECISBP2: R197X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 8

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