Publications:

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: DNAH1: 10881C>A; Val3627=; rs11708581

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine

Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM

Publication Date: 2019-12

Variant appearance in text: rs11708581

PubMed Link: 31637880

Variant Present in the following documents:

• Main text
• CAM4-8-7477.pdf

View BVdb publication page

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Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Plos One

Skarp, Sini S; Kämäräinen, Olli-Pekka OP; Wei, Gong-Hong GH; Jakkula, Eveliina E; Kiviranta, Ilkka I; Kröger, Heikki H; Auvinen, Juha J; Lehenkari, Petri P; Ala-Kokko, Leena L; Männikkö, Minna M

Publication Date: 2018

Variant appearance in text: DNAH1: V3627V; rs11708581

PubMed Link: 30157244

Variant Present in the following documents:

• pone.0203313.s001.xlsx, sheet 5

View BVdb publication page

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Germline genetic variants in somatically significantly mutated genes in tumors are associated with renal cell carcinoma risk and outcome.

Carcinogenesis

Shu, Xiang X; Gu, Jianchun J; Huang, Maosheng M; Tannir, Nizar M NM; Matin, Surena F SF; Karam, Jose A JA; Wood, Christopher G CG; Wu, Xifeng X; Ye, Yuanqing Y

Publication Date: 2018-05-28

Variant appearance in text: rs11708581

PubMed Link: 29635281

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: DNAH1: V3627V; rs11708581

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Common, germline genetic variations in the novel tumor suppressor BAP1 and risk of developing different types of cancer.

Oncotarget

Lin, Moubin M; Zhang, Liren L; Hildebrandt, Michelle A T MAT; Huang, Maosheng M; Wu, Xifeng X; Ye, Yuanqing Y

Publication Date: 2017-09-26

Variant appearance in text: rs11708581

PubMed Link: 29088836

Variant Present in the following documents:

• Main text
• oncotarget-08-74936.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: DNAH1: V3627V; rs11708581

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: DNAH1: V3627V; rs11708581

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

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Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One

Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E

Publication Date: 2011

Variant appearance in text: rs11708581

PubMed Link: 21695249

Variant Present in the following documents:

• pone.0018158.s001.xls, sheet 5

View BVdb publication page

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