Publications:

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Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Bmc Medical Genomics

Miao, Mingzhu M; Lu, Shoulian S; Sun, Xiao X; Zhao, Meng M; Wang, Jue J; Su, Xiaotan X; Jin, Bai B; Sun, Lizhou L

Publication Date: 2022-07-13

Variant appearance in text: SLC7A14: 1391G>T; C464F; rs79668755

PubMed Link: 35831859

Variant Present in the following documents:

• 12920_2022_1311_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: SLC7A14: 1391G>T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SLC7A14: C464F; rs79668755

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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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: SLC7A14: 1391G>T; Cys464Phe; rs79668755

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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Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.

Molecular Genetics & Genomic Medicine

Sun, Yan Y; Li, Wei W; Li, Jian-Kang JK; Wang, Zhuo-Shi ZS; Bai, Jin-Yue JY; Xu, Ling L; Xing, Bo B; Yang, Wen W; Wang, Zi-Wei ZW; Wang, Lu-Sheng LS; He, Wei W; Chen, Fang F

Publication Date: 2020-04

Variant appearance in text: SLC7A14: 1391G>T; Cys464Phe

PubMed Link: 32100970

Variant Present in the following documents:

• Main text
• MGG3-8-e1184.pdf

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: SLC7A14: 1391G>T; Cys464Phe

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: SLC7A14: 1391G>T; Cys464Phe; rs79668755

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.

Database : The Journal Of Biological Databases And Curation

Hariprakash, Judith Mary JM; Vellarikkal, Shamsudheen Karuthedath SK; Verma, Ankit A; Ranawat, Anop Singh AS; Jayarajan, Rijith R; Ravi, Rowmika R; Kumar, Anoop A; Dixit, Vishal V; Sivadas, Ambily A; Kashyap, Atul Kumar AK; Senthivel, Vigneshwar V; Sehgal, Paras P; Mahadevan, Vijayalakshmi V; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2018-01-01

Variant appearance in text: rs79668755

PubMed Link: 30184194

Variant Present in the following documents:

• Main text
• bay080.pdf

View BVdb publication page

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Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.

Indian Journal Of Ophthalmology

Huang, Xiaoyan X; Tian, Mao M; Li, Jiankang J; Cui, Ling L; Li, Min M; Zhang, Jianguo J

Publication Date: 2017-11

Variant appearance in text: SLC7A14: 1391G>T; Cys464Phe

PubMed Link: 29133643

Variant Present in the following documents:

• Main text
• IJO-65-1161.pdf

View BVdb publication page

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SLC7A14 linked to autosomal recessive retinitis pigmentosa.

Nature Communications

Jin, Zi-Bing ZB; Huang, Xiu-Feng XF; Lv, Ji-Neng JN; Xiang, Lue L; Li, Dong-Qing DQ; Chen, Jiangfei J; Huang, Changjiang C; Wu, Jinyu J; Lu, Fan F; Qu, Jia J

Publication Date: 2014-03-27

Variant appearance in text: SLC7A14: C464F

PubMed Link: 24670872

Variant Present in the following documents:

• Main text
• ncomms4517.pdf

View BVdb publication page

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