Publications:

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Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

Frontiers In Oncology

He, Ping P; Liu, Jie J; Xu, Qingyuan Q; Ma, Huaijun H; Niu, Beifang B; Huang, Gang G; Wu, Wei W

Publication Date: 2023

Variant appearance in text: MTHFR: 136C>T; R46W; rs138189536

PubMed Link: 36910641

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 8

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Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

Bmc Neurology

Chen, Jiannan J; Zhao, Zhe Z; Shen, Hongrui H; Bing, Qi Q; Li, Nan N; Guo, Xuan X; Hu, Jing J

Publication Date: 2022-05-16

Variant appearance in text: MTHFR: R46W

PubMed Link: 35578252

Variant Present in the following documents:

• Main text
• 12883_2022_Article_2708.pdf

View BVdb publication page

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A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences

Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2021-12-23

Variant appearance in text: MTHFR: R46W

PubMed Link: 35008593

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences

Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2021-12-23

Variant appearance in text: MTHFR: R46W

PubMed Link: 35008593

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome-Wide Association Study Identifies East Asian-Specific Missense Variant MTHFR C136T Influencing Homocysteine Levels in Chinese Populations RH: ExWAS of tHCY in a Chinese Population.

Frontiers In Genetics

Liu, Tianzi T; Momin, Mohetaboer M; Zhou, Huiyue H; Zheng, Qiwen Q; Fan, Fangfang F; Jia, Jia J; Liu, Mengyuan M; Bao, Minghui M; Li, Jianping J; Huo, Yong Y; Liu, Jialin J; Zhang, Yaning Y; Mao, Xuemei X; Han, Xiao X; Hu, Zhiyuan Z; Zeng, Changqing C; Liu, Fan F; Zhang, Yan Y

Publication Date: 2021

Variant appearance in text: rs138189536

PubMed Link: 34707639

Variant Present in the following documents:

• Main text
• fgene-12-717621.pdf

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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: rs138189536

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

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Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.

Genes

Yin, Jiani J; Chun, Chun-An CA; Zavadenko, Nikolay N NN; Pechatnikova, Natalia L NL; Naumova, Oxana Yu OY; Doddapaneni, Harsha V HV; Hu, Jianhong J; Muzny, Donna M DM; Schaaf, Christian P CP; Grigorenko, Elena L EL

Publication Date: 2020-07-25

Variant appearance in text: MTHFR: 136C>T; Arg46Trp

PubMed Link: 32722525

Variant Present in the following documents:

• Main text
• genes-11-00853.pdf

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: 136C>T; Arg46Trp; rs138189536

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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Gene panel for Mendelian strokes.

Stroke And Vascular Neurology

Fang, Fang F; Xu, Zhe Z; Suo, Yue Y; Wang, Hui H; Cheng, Si S; Li, Hao H; Li, Wei W; Wang, Yongjun Y

Publication Date: 2020-12

Variant appearance in text: MTHFR: 136C>T; R46W

PubMed Link: 32341005

Variant Present in the following documents:

• svn-2020-000352supp003.pdf

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Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population.

Frontiers In Neurology

Oh, Eun Hye EH; Shin, Jin-Hong JH; Kim, Hyang-Sook HS; Cho, Jae Wook JW; Choi, Seo Young SY; Choi, Kwang-Dong KD; Rhee, Je-Keun JK; Lee, Seowhang S; Lee, Changwook C; Choi, Jae-Hwan JH

Publication Date: 2019

Variant appearance in text: MTHFR: 136C>T; Arg46Trp; rs138189536

PubMed Link: 32038468

Variant Present in the following documents:

• Main text
• fneur-10-01424.pdf

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: MTHFR: 136C>T; Arg46Trp; rs138189536

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Frontiers In Neurology

Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M

Publication Date: 2019

Variant appearance in text: MTHFR: 136C>T; Arg46Trp

PubMed Link: 31068897

Variant Present in the following documents:

• Main text
• fneur-10-00411.pdf

View BVdb publication page

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Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease.

Frontiers In Pharmacology

Wang, Xu X; Shen, Xiang X; Fang, Fang F; Ding, Chang-Hong CH; Zhang, Hao H; Cao, Zhen-Hua ZH; An, Dong-Yan DY

Publication Date: 2018

Variant appearance in text: MTHFR: 136C>T; R46W

PubMed Link: 30687093

Variant Present in the following documents:

• Main text

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: MTHFR: R46W

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs138189536

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Annals Of Laboratory Medicine

Park, Kyoung Jin KJ; Park, Seungman S; Lee, Eunhee E; Park, Jong Ho JH; Park, June Hee JH; Park, Hyung Doo HD; Lee, Soo Youn SY; Kim, Jong Won JW

Publication Date: 2016-11

Variant appearance in text: MTHFR: R46W

PubMed Link: 27578510

Variant Present in the following documents:

• alm-36-561-s011.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: MTHFR: R46W

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: MTHFR: R46W

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Journal Of Inherited Metabolic Disease

Huemer, Martina M; Mulder-Bleile, Regina R; Burda, Patricie P; Froese, D Sean DS; Suormala, Terttu T; Zeev, Bruria Ben BB; Chinnery, Patrick F PF; Dionisi-Vici, Carlo C; Dobbelaere, Dries D; Gökcay, Gülden G; Demirkol, Mübeccel M; Häberle, Johannes J; Lossos, Alexander A; Mengel, Eugen E; Morris, Andrew A AA; Niezen-Koning, Klary E KE; Plecko, Barbara B; Parini, Rossella R; Rokicki, Dariusz D; Schiff, Manuel M; Schimmel, Mareike M; Sewell, Adrian C AC; Sperl, Wolfgang W; Spiekerkoetter, Ute U; Steinmann, Beat B; Taddeucci, Grazia G; Trejo-Gabriel-Galán, Jose M JM; Trefz, Friedrich F; Tsuji, Megumi M; Vilaseca, María Antònia MA; von Kleist-Retzow, Jürgen-Christoph JC; Walker, Valerie V; Zeman, Jiri J; Baumgartner, Matthias R MR; Fowler, Brian B

Publication Date: 2016-01

Variant appearance in text: MTHFR: Arg46Trp

PubMed Link: 26025547

Variant Present in the following documents:

• Main text

View BVdb publication page

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