Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: MTHFR: D223N; rs150847674

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry.

Genes

Liu, Yichuan Y; Chang, Xiao X; Qu, Hui-Qi HQ; Tian, Lifeng L; Glessner, Joseph J; Qu, Jingchun J; Li, Dong D; Qiu, Haijun H; Sleiman, Patrick P; Hakonarson, Hakon H

Publication Date: 2021-02-22

Variant appearance in text: rs150847674

PubMed Link: 33671795

Variant Present in the following documents:

• Main text
• genes-12-00310.pdf

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs150847674

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

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: MTHFR: 667G>A; Asp223Asn; rs150847674

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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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: MTHFR: D223N

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MTHFR: 667G>A; D223N

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.

Nature Communications

Igartua, Catherine C; Myers, Rachel A RA; Mathias, Rasika A RA; Pino-Yanes, Maria M; Eng, Celeste C; Graves, Penelope E PE; Levin, Albert M AM; Del-Rio-Navarro, Blanca E BE; Jackson, Daniel J DJ; Livne, Oren E OE; Rafaels, Nicholas N; Edlund, Christopher K CK; Yang, James J JJ; Huntsman, Scott S; Salam, Muhammad T MT; Romieu, Isabelle I; Mourad, Raphael R; Gern, James E JE; Lemanske, Robert F RF; Wyss, Annah A; Hoppin, Jane A JA; Barnes, Kathleen C KC; Burchard, Esteban G EG; Gauderman, W James WJ; Martinez, Fernando D FD; Raby, Benjamin A BA; Weiss, Scott T ST; Williams, L Keoki LK; London, Stephanie J SJ; Gilliland, Frank D FD; Nicolae, Dan L DL; Ober, Carole C

Publication Date: 2015-01-16

Variant appearance in text: rs150847674

PubMed Link: 25591454

Variant Present in the following documents:

• ncomms6965-s1.pdf

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First Observation of MTH FR 678 C-A (Ala222Ala) Single Nucleotide Polymorphism.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Eğin, Yonca Y; Akar, Nejat N

Publication Date: 2012-06

Variant appearance in text: MTHFR: Asp223Asn

PubMed Link: 24744661

Variant Present in the following documents:

• Main text
• TJH-29-204.pdf

View BVdb publication page

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Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Aneji, Chiamaka N CN; Northrup, Hope H; Au, Kit Sing KS

Publication Date: 2012-02

Variant appearance in text: MTHFR: Asp223Asn

PubMed Link: 22241680

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Plos One

Chang, Han H; Jackson, Donald G DG; Kayne, Paul S PS; Ross-Macdonald, Petra B PB; Ryseck, Rolf-Peter RP; Siemers, Nathan O NO

Publication Date: 2011

Variant appearance in text: MTHFR: D223N

PubMed Link: 21701589

Variant Present in the following documents:

• pone.0021097.s002.xls, sheet 1

View BVdb publication page

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Nucleotide extension genotyping by high-resolution melting.

The Journal Of Molecular Diagnostics : Jmd

Liew, Michael M; Wittwer, Carl C; Voelkerding, Karl V KV

Publication Date: 2010-11

Variant appearance in text: MTHFR: 667G>A

PubMed Link: 20847280

Variant Present in the following documents:

• Main text

View BVdb publication page

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The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.

Plos Genetics

Marini, Nicholas J NJ; Thomas, Paul D PD; Rine, Jasper J

Publication Date: 2010-05-27

Variant appearance in text: MTHFR: D223N

PubMed Link: 20523748

Variant Present in the following documents:

• Main text

View BVdb publication page

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The prevalence of folate-remedial MTHFR enzyme variants in humans.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Marini, Nicholas J NJ; Gin, Jennifer J; Ziegle, Janet J; Keho, Kathryn Hunkapiller KH; Ginzinger, David D; Gilbert, Dennis A DA; Rine, Jasper J

Publication Date: 2008-06-10

Variant appearance in text: MTHFR: D223N

PubMed Link: 18523009

Variant Present in the following documents:

• Main text

View BVdb publication page

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