Publications:

---

Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: MTHFR: R594Q

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

---

Interactions of SNPs in Folate Metabolism Related Genes on Prostate Cancer Aggressiveness in European Americans and African Americans.

Cancers

Lin, Hui-Yi HY; Steck, Susan E SE; Sarkar, Indrani I; Fontham, Elizabeth T H ETH; Diekman, Alan A; Rogers, Lora J LJ; Ratliff, Calvin T CT; Bensen, Jeannette T JT; Mohler, James L JL; Su, L Joseph LJ

Publication Date: 2023-03-10

Variant appearance in text: rs2274976

PubMed Link: 36980585

Variant Present in the following documents:

• Main text
• cancers-15-01699.pdf

View BVdb publication page

---

Association of paternal MTHFR polymorphisms (C677T) with clinical outcomes in ICSI treatment.

Frontiers In Endocrinology

Wan, Yangyang Y; Liu, Wenjing W; Xu, Bo B; Jiang, Xiaohua X; Hua, Juan J

Publication Date: 2022

Variant appearance in text: rs2274976

PubMed Link: 36619555

Variant Present in the following documents:

• Main text
• fendo-13-1084463.pdf

View BVdb publication page

---

Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2274976

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

---

Risk of Ischemic Heart Disease Associated with Primary Dysmenorrhea: A Population-Based Retrospective Cohort Study.

Journal Of Personalized Medicine

Yeh, Chung-Hsin CH; Muo, Chih-Hsin CH; Sung, Fung-Chang FC; Yen, Pao-Sheng PS

Publication Date: 2022-09-29

Variant appearance in text: rs2274976

PubMed Link: 36294749

Variant Present in the following documents:

• jpm-12-01610.pdf

View BVdb publication page

---

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine

Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y

Publication Date: 2022

Variant appearance in text: MTHFR: R594Q

PubMed Link: 36277747

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 1

View BVdb publication page

---

Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics

Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E

Publication Date: 2022-10-17

Variant appearance in text: MTHFR: 1781G>A; Arg594Gln; rs2274976

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1
• 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs2274976

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

View BVdb publication page

---

MTHFR Gene-Polymorphism and Infertile Men in Indian Population: A Systematic Literature Review.

Cureus

More, Akash A; Gajbe, Ujwal U; Olatunji, Oluwabunmi O; Singh, Brij B

Publication Date: 2022-07

Variant appearance in text: MTHFR: Arg594Gln

PubMed Link: 36000135

Variant Present in the following documents:

• Main text
• cureus-0014-00000027075.pdf

View BVdb publication page

---

Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population.

Italian Journal Of Pediatrics

Sarwar, Sumbal S; Shabana, ; Tahir, Amna A; Liaqat, Zainab Z; Naseer, Saher S; Seme, Rani Summeya RS; Mehmood, Sabahat S; Shahid, Saleem Ullah SU; Hasnain, Shahida S

Publication Date: 2022-07-23

Variant appearance in text: rs2274976

PubMed Link: 35870951

Variant Present in the following documents:

• 13052_2022_Article_1323.pdf

View BVdb publication page

---

Gene-environment interactions related to maternal exposure to environmental and lifestyle-related chemicals during pregnancy and the resulting adverse fetal growth: a review.

Environmental Health And Preventive Medicine

Kobayashi, Sumitaka S; Sata, Fumihiro F; Kishi, Reiko R

Publication Date: 2022

Variant appearance in text: rs2274976

PubMed Link: 35675978

Variant Present in the following documents:

• ehpm-27-024-s001.pdf

View BVdb publication page

---

"Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case-control study encompassing meta-analysis and trial sequential analysis".

Bmc Pediatrics

Raina, Jyotdeep Kour JK; Panjaliya, Rakesh Kumar RK; Dogra, Vikas V; Sharma, Sushil S; Anupriya, ; Kumar, Parvinder P

Publication Date: 2022-04-25

Variant appearance in text: rs2274976

PubMed Link: 35468734

Variant Present in the following documents:

• Main text
• 12887_2022_Article_3227.pdf

View BVdb publication page

---

Associations between Serum Betaine, Methyl-Metabolizing Genetic Polymorphisms and Risk of Incident Type 2 Diabetes: A Prospective Cohort Study in Community-Dwelling Chinese Adults.

Nutrients

Lu, Xiaoting X; Huang, Rongzhu R; Li, Shuyi S; Fang, Aiping A; Chen, Yuming Y; Chen, Si S; Wang, Fan F; Lin, Xinlei X; Liu, Zhaoyan Z; Zhu, Huilian H

Publication Date: 2022-01-15

Variant appearance in text: rs2274976

PubMed Link: 35057543

Variant Present in the following documents:

• Main text
• nutrients-14-00362.pdf

View BVdb publication page

---

Associations between Serum Betaine, Methyl-Metabolizing Genetic Polymorphisms and Risk of Incident Type 2 Diabetes: A Prospective Cohort Study in Community-Dwelling Chinese Adults.

Nutrients

Lu, Xiaoting X; Huang, Rongzhu R; Li, Shuyi S; Fang, Aiping A; Chen, Yuming Y; Chen, Si S; Wang, Fan F; Lin, Xinlei X; Liu, Zhaoyan Z; Zhu, Huilian H

Publication Date: 2022-01-15

Variant appearance in text: rs2274976

PubMed Link: 35057543

Variant Present in the following documents:

• Main text
• nutrients-14-00362.pdf

View BVdb publication page

---

Genetic associations with immune-mediated outcomes after allogeneic hematopoietic cell transplantation.

Blood Advances

Martin, Paul J PJ; Levine, David M DM; Storer, Barry E BE; Sather, Cassandra L CL; Spellman, Stephen R SR; Hansen, John A JA

Publication Date: 2022-04-26

Variant appearance in text: rs2274976

PubMed Link: 34996099

Variant Present in the following documents:

• advancesADV2021005620-suppl1.pdf

View BVdb publication page

---

Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran.

Journal Of Reproduction & Infertility

Ghadirkhomi, Elham E; Angaji, Seyed Abdolhamid SA; Khosravi, Maryam M; Mashayekhi, Mohammad Reza MR

Publication Date: 2021

Variant appearance in text: rs2274976

PubMed Link: 34987987

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide.

Hgg Advances

Stuart, Philip E PE; Tsoi, Lam C LC; Nair, Rajan P RP; Ghosh, Manju M; Kabra, Madhulika M; Shaiq, Pakeeza A PA; Raja, Ghazala K GK; Qamar, Raheel R; Thelma, B K BK; Patrick, Matthew T MT; Parihar, Anita A; Singh, Sonam S; Khandpur, Sujay S; Kumar, Uma U; Wittig, Michael M; Degenhardt, Frauke F; Tejasvi, Trilokraj T; Voorhees, John J JJ; Weidinger, Stephan S; Franke, Andre A; Abecasis, Goncalo R GR; Sharma, Vinod K VK; Elder, James T JT

Publication Date: 2022-01-13

Variant appearance in text: rs2274976

PubMed Link: 34927100

Variant Present in the following documents:

• Main text
• main.pdf
• mmc3.pdf

View BVdb publication page

---

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: rs2274976

PubMed Link: 34707639

Variant Present in the following documents:

• Main text
• fgene-12-717621.pdf

View BVdb publication page

---

Early-Onset Schizophrenia: A Special Phenotype of the Disease Characterized by Increased MTHFR Polymorphisms and Aggravating Symptoms.

Neuropsychiatric Disease And Treatment

Wan, Lin L; Wei, Jing J

Publication Date: 2021

Variant appearance in text: rs2274976

PubMed Link: 34376980

Variant Present in the following documents:

• Main text
• ndt-17-2511.pdf

View BVdb publication page

---

Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only.

Frontiers In Cell And Developmental Biology

Machado, Renato Assis RA; Martelli-Junior, Hercílio H; Reis, Silvia Regina de Almeida SRA; Küchler, Erika Calvano EC; Scariot, Rafaela R; das Neves, Lucimara Teixeira LT; Coletta, Ricardo D RD

Publication Date: 2021

Variant appearance in text: rs2274976

PubMed Link: 34307341

Variant Present in the following documents:

• Main text
• fcell-09-638522.pdf

View BVdb publication page

---

Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring.

Bmc Cardiovascular Disorders

Sun, Mengting M; Wang, Tingting T; Huang, Peng P; Diao, Jingyi J; Zhang, Senmao S; Li, Jinqi J; Luo, Liu L; Li, Yihuan Y; Chen, Letao L; Liu, Yiping Y; Wei, Jianhui J; Song, Xinli X; Sheng, Xiaoqi X; Qin, Jiabi J

Publication Date: 2021-06-14

Variant appearance in text: rs2274976

PubMed Link: 34126931

Variant Present in the following documents:

• Main text
• 12872_2021_Article_2117.pdf

View BVdb publication page

---

Genetic effect of MTHFR C677T, A1298C, and A1793G polymorphisms on the age at onset, plasma homocysteine, and white matter lesions in Alzheimer's disease in the Chinese population.

Aging

Jiang, Yaling Y; Xiao, Xuewen X; Wen, Yafei Y; Wan, Meidan M; Zhou, Lu L; Liu, Xixi X; Wang, Xin X; Guo, Lina L; Liu, Hui H; Zhou, Yafang Y; Wang, Junling J; Liao, Xinxin X; Shen, Lu L; Jiao, Bin B

Publication Date: 2021-04-04

Variant appearance in text: rs2274976

PubMed Link: 33833133

Variant Present in the following documents:

• Main text
• aging-13-202827.pdf

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: MTHFR: R594Q; rs2274976

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Influence of Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphism on High-Dose Methotrexate-Related Toxicities in Pediatric Non-Hodgkin Lymphoma Patients.

Frontiers In Oncology

Lu, Suying S; Zhu, Xiaoqin X; Li, Wei W; Chen, Huimou H; Zhou, Dalei D; Zhen, Zijun Z; Sun, Feifei F; Huang, Junting J; Zhu, Jia J; Wang, Juan J; Zhang, Yizhuo Y; Sun, Xiaofei X

Publication Date: 2021

Variant appearance in text: MTHFR: Arg594Gln

PubMed Link: 33718146

Variant Present in the following documents:

• Main text
• fonc-11-598226.pdf

View BVdb publication page

---

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: MTHFR: 1781G>A; Arg594Gln; rs2274976

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: rs2274976

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

Associations of the MTHFR rs1801133 polymorphism with gastric cancer risk in the Chinese Han population.

Biomedical Reports

Han, Zhiqiang Z; Sheng, Huaming H; Gao, Qiuzhi Q; Fan, Yu Y; Xie, Xiang X

Publication Date: 2021-01

Variant appearance in text: rs2274976

PubMed Link: 33269075

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic polymorphisms in folate-metabolizing genes associated with gastric cancer prognosis in northwest China subjects.

Journal Of Cancer

Yuan, Lijuan L; Liu, Ziyu Z; Wei, Gang G; Yang, Ping P; Hu, Xi E XE; Qu, Falin F; Lu, Jianguo J; He, Xianli X; Bao, Guoqiang G

Publication Date: 2020

Variant appearance in text: rs2274976

PubMed Link: 33033524

Variant Present in the following documents:

• Main text
• jcav11p6413.pdf

View BVdb publication page

---

Association of ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with Coronary Artery Disease (CAD).

Bmc Cardiovascular Disorders

Raina, Jyotdeep Kour JK; Sharma, Minakashee M; Panjaliya, Rakesh Kumar RK; Dogra, Vikas V; Bakaya, Ashok A; Kumar, Parvinder P

Publication Date: 2020-07-18

Variant appearance in text: MTHFR: R594Q; rs2274976

PubMed Link: 32682401

Variant Present in the following documents:

• Main text
• 12872_2020_Article_1618.pdf

View BVdb publication page

---

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: MTHFR: R594Q; rs2274976

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

Genetic and Physiological Factors Affecting Human Milk Production and Composition.

Nutrients

Golan, Yarden Y; Assaraf, Yehuda G YG

Publication Date: 2020-05-21

Variant appearance in text: rs2274976

PubMed Link: 32455695

Variant Present in the following documents:

• Main text
• nutrients-12-01500.pdf

View BVdb publication page

---

Mechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants.

Scientific Reports

Dash, Raju R; Choi, Ho Jin HJ; Moon, Il Soo IS

Publication Date: 2020-02-27

Variant appearance in text: MTHFR: R594Q

PubMed Link: 32107424

Variant Present in the following documents:

• 41598_2020_Article_60561.pdf

View BVdb publication page

---

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: MTHFR: 1781G>A; R594Q; rs2274976

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

A multiple coefficient of determination-based method for parsing SNPs that correlate with mRNA expression.

Scientific Reports

Song, Fan F; Tao, Yu Y; Sun, Yue Y; Saffen, David D

Publication Date: 2019-12-27

Variant appearance in text: rs2274976

PubMed Link: 31882953

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut

Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J

Publication Date: 2020-08

Variant appearance in text: rs2274976

PubMed Link: 31818908

Variant Present in the following documents:

• gutjnl-2019-319313supp002.pdf

View BVdb publication page

---

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: MTHFR: 1781G>A; Arg594Gln; rs2274976

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Polymorphisms of MTHFR and TYMS predict capecitabine-induced hand-foot syndrome in patients with metastatic breast cancer.

Cancer Communications (London, England)

Lin, Shaoyan S; Yue, Jian J; Guan, Xiuwen X; Yuan, Peng P; Wang, Jiayu J; Luo, Yang Y; Fan, Ying Y; Cai, Ruigang R; Li, Qiao Q; Chen, Shanshan S; Zhang, Pin P; Li, Qing Q; Ma, Fei F; Xu, Binghe B

Publication Date: 2019-10-11

Variant appearance in text: rs2274976

PubMed Link: 31601265

Variant Present in the following documents:

• Main text
• 40880_2019_Article_399.pdf

View BVdb publication page

---

MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics

Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J

Publication Date: 2019-07-01

Variant appearance in text: rs2274976

PubMed Link: 31262291

Variant Present in the following documents:

• 12920_2019_546_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: rs2274976

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

---

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: MTHFR: R594Q

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s005.xlsx, sheet 1
• AJMG-179-1260-s007.xlsx, sheet 1

View BVdb publication page

---

The MTHFR 677C>T polymorphism is associated with unmetabolized folic acid in breast milk in a cohort of Canadian women.

The American Journal Of Clinical Nutrition

Page, Rachael R; Wong, Alex A; Arbuckle, Tye E TE; MacFarlane, Amanda J AJ

Publication Date: 2019-08-01

Variant appearance in text: rs2274976

PubMed Link: 31005971

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: MTHFR: 1781G>A; Arg594Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: MTHFR: R594Q; rs2274976

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

---

Association study between genetic polymorphisms in folate metabolism and gastric cancer susceptibility in Chinese Han population: A case-control study.

Molecular Genetics & Genomic Medicine

Wei, Lusha L; Niu, Fanglin F; Wu, Jiamin J; Chen, Fulin F; Yang, Hua H; Li, Jing J; Jin, Tianbo T; Wu, Yifei Y

Publication Date: 2019-05

Variant appearance in text: rs2274976

PubMed Link: 30884202

Variant Present in the following documents:

• Main text
• MGG3-7-e633.pdf

View BVdb publication page

---

Does L-Methylfolate Supplement Methylphenidate Pharmacotherapy in Attention-Deficit/Hyperactivity Disorder?: Evidence of Lack of Benefit From a Double-Blind, Placebo-Controlled, Randomized Clinical Trial.

Journal Of Clinical Psychopharmacology

Surman, Craig C; Ceranoglu, Atilla A; Vaudreuil, Carrie C; Albright, Brittany B; Uchida, Mai M; Yule, Amy A; Spencer, Andrea A; Boland, Heidi H; Grossman, Rebecca R; Rhodewalt, Lauren L; Fitzgerald, Maura M; Biederman, Joseph J

Publication Date: 2019

Variant appearance in text: rs2274976

PubMed Link: 30566416

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Arsenic, one carbon metabolism and diabetes-related outcomes in the Strong Heart Family Study.

Environment International

Spratlen, Miranda J MJ; Grau-Perez, Maria M; Umans, Jason G JG; Yracheta, Joseph J; Best, Lyle G LG; Francesconi, Kevin K; Goessler, Walter W; Balakrishnan, Poojitha P; Cole, Shelley A SA; Gamble, Mary V MV; Howard, Barbara V BV; Navas-Acien, Ana A

Publication Date: 2018-12

Variant appearance in text: rs2274976

PubMed Link: 30321848

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MTHFR: 1781G>A; Arg594Gln; rs2274976

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

---

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs2274976

PubMed Link: 30214008

Variant Present in the following documents:

• Main text
• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

---

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Clinical Epigenetics

Dagar, Vinod V; Hutchison, Wendy W; Muscat, Andrea A; Krishnan, Anita A; Hoke, David D; Buckle, Ashley A; Siswara, Priscillia P; Amor, David J DJ; Mann, Jeffrey J; Pinner, Jason J; Colley, Alison A; Wilson, Meredith M; Sachdev, Rani R; McGillivray, George G; Edwards, Matthew M; Kirk, Edwin E; Collins, Felicity F; Jones, Kristi K; Taylor, Juliet J; Hayes, Ian I; Thompson, Elizabeth E; Barnett, Christopher C; Haan, Eric E; Freckmann, Mary-Louise ML; Turner, Anne A; White, Susan S; Kamien, Ben B; Ma, Alan A; Mackenzie, Fiona F; Baynam, Gareth G; Kiraly-Borri, Cathy C; Field, Michael M; Dudding-Byth, Tracey T; Algar, Elizabeth M EM

Publication Date: 2018-08-30

Variant appearance in text: MTHFR: 1781G>A; Arg594Gln

PubMed Link: 30165906

Variant Present in the following documents:

• Main text

View BVdb publication page

---