Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TEK: 2228G>C; Gly743Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: N/A

PubMed Link: 36413997

Variant Present in the following documents:

View BVdb publication page

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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: TEK: 2228G>C; G743A; rs202131936

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

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Cytochrome P450 1B1: role in health and disease and effect of nutrition on its expression.

Rsc Advances

Shah, Bakht Ramin BR; Xu, Wei W; Mraz, Jan J

Publication Date: 2019-07-01

Variant appearance in text: TEK: G743A

PubMed Link: 35515562

Variant Present in the following documents:

• Main text
• RA-009-C9RA03674A.pdf

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First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.

Journal Of Clinical Medicine

Stingl, Julia V JV; Diederich, Stefan S; Diel, Heidi H; Schuster, Alexander K AK; Wagner, Felix M FM; Chronopoulos, Panagiotis P; Aghayeva, Fidan F; Grehn, Franz F; Winter, Jennifer J; Schweiger, Susann S; Hoffmann, Esther M EM

Publication Date: 2021-12-21

Variant appearance in text: TEK: 2228G>C; Gly743Ala

PubMed Link: 35011756

Variant Present in the following documents:

• Main text
• jcm-11-00016.pdf

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First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.

Journal Of Clinical Medicine

Stingl, Julia V JV; Diederich, Stefan S; Diel, Heidi H; Schuster, Alexander K AK; Wagner, Felix M FM; Chronopoulos, Panagiotis P; Aghayeva, Fidan F; Grehn, Franz F; Winter, Jennifer J; Schweiger, Susann S; Hoffmann, Esther M EM

Publication Date: 2021-12-21

Variant appearance in text: TEK: 2228G>C; Gly743Ala

PubMed Link: 35011756

Variant Present in the following documents:

• Main text
• jcm-11-00016.pdf

View BVdb publication page

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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics

Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM

Publication Date: 2020-07-18

Variant appearance in text: rs202131936

PubMed Link: 32682410

Variant Present in the following documents:

• 12881_2020_1087_MOESM1_ESM.xlsx, sheet 6

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: TEK: 2228G>C; Gly743Ala; rs202131936

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Scientific Reports

Lin, Peng-Chan PC; Yeh, Yu-Min YM; Wu, Pei-Ying PY; Hsu, Keng-Fu KF; Chang, Jang-Yang JY; Shen, Meng-Ru MR

Publication Date: 2019-03-08

Variant appearance in text: TEK: 2228G>C; Gly743Ala

PubMed Link: 30850667

Variant Present in the following documents:

• Main text
• 41598_2019_40571_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_Article_40571.pdf

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TLR1 polymorphisms are significantly associated with the occurrence, presentation and drug-adverse reactions of tuberculosis in Western Chinese adults.

Oncotarget

Peng, Wu W; Chen, Hao H; Zhao, Zhenzhen Z; Hu, Xuejiao X; Zhou, Yi Y; Li, Yingyu Y; Yang, Lian L; Wang, Xuemei X; Song, Jiajia J; Liu, Tangyuheng T; Wu, Qian Q; Bai, Hao H; Lu, Xiaojun X; Chen, Jie J; Ying, Binwu B

Publication Date: 2018-01-05

Variant appearance in text: rs202131936

PubMed Link: 29416723

Variant Present in the following documents:

• Main text
• oncotarget-09-1691.pdf

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Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.

Human Genetics

Kabra, Meha M; Zhang, Wei W; Rathi, Sonika S; Mandal, Anil K AK; Senthil, Sirisha S; Pyatla, Goutham G; Ramappa, Muralidhar M; Banerjee, Seema S; Shekhar, Konegari K; Marmamula, Srinivas S; Mettla, Asha L AL; Kaur, Inderjeet I; Khanna, Rohit C RC; Khanna, Hemant H; Chakrabarti, Subhabrata S

Publication Date: 2017-08

Variant appearance in text: TEK: G743A

PubMed Link: 28620713

Variant Present in the following documents:

• Main text

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Characterization of DNA variants in the human kinome in breast cancer.

Scientific Reports

Agarwal, Divyansh D; Qi, Yuan Y; Jiang, Tingting T; Liu, Xiuping X; Shi, Weiwei W; Wali, Vikram B VB; Turk, Benjamin B; Ross, Jeffrey S JS; Fraser Symmans, W W; Pusztai, Lajos L; Hatzis, Christos C

Publication Date: 2015-09-30

Variant appearance in text: TIE2: G743A

PubMed Link: 26420498

Variant Present in the following documents:

• srep14736-s2.xls, sheet 73
• srep14736-s2.xls, sheet 4

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High-throughput sequence analysis of the tyrosine kinome in acute myeloid leukemia.

Blood

Loriaux, Marc M MM; Levine, Ross L RL; Tyner, Jeffrey W JW; Fröhling, Stefan S; Scholl, Claudia C; Stoffregen, Eric P EP; Wernig, Gerlinde G; Erickson, Heidi H; Eide, Christopher A CA; Berger, Roland R; Bernard, Olivier A OA; Griffin, James D JD; Stone, Richard M RM; Lee, Benjamin B; Meyerson, Matthew M; Heinrich, Michael C MC; Deininger, Michael W MW; Gilliland, D Gary DG; Druker, Brian J BJ

Publication Date: 2008-05-01

Variant appearance in text: TEK: G743A

PubMed Link: 18252861

Variant Present in the following documents:

• Main text

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