Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: MTHFR: E470A

PubMed Link: 36644153

Variant Present in the following documents:

• Main text
• Supplementary_Data5.xlsx, sheet 2
• Supplementary_Data5.xlsx, sheet 1
• ol-25-02-13637.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: MTHFR: E470A

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Comparison of genetic susceptibility to lung adenocarcinoma and squamous cell carcinoma in Japanese patients using a novel panel for cancer-related drug-metabolizing enzyme genes.

Scientific Reports

Ohnami, Sumiko S; Naruoka, Akane A; Isaka, Mitsuhiro M; Mizuguchi, Maki M; Nakatani, Sou S; Kamada, Fukumi F; Shimoda, Yuji Y; Sakai, Ai A; Ohshima, Keiichi K; Hatakeyama, Keiichi K; Maruyama, Kouji K; Ohde, Yasuhisa Y; Kenmotsu, Hirotsugu H; Takahashi, Toshiaki T; Akiyama, Yasuto Y; Nagashima, Takeshi T; Urakami, Kenichi K; Ohnami, Shumpei S; Yamaguchi, Ken K

Publication Date: 2022-10-26

Variant appearance in text: MTHFR: Glu470Ala

PubMed Link: 36289279

Variant Present in the following documents:

• Main text
• 41598_2022_Article_22914.pdf

View BVdb publication page

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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: 1409A>C; E470A

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: MTHFR: E470A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: MTHFR: E470A

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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The Road so Far in Colorectal Cancer Pharmacogenomics: Are We Closer to Individualised Treatment?

Journal Of Personalized Medicine

Simões, Ana Rita AR; Fernández-Rozadilla, Ceres C; Maroñas, Olalla O; Carracedo, Ángel Á

Publication Date: 2020-11-19

Variant appearance in text: MTHFR: 1409A>C; Glu470Ala

PubMed Link: 33228198

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E470A

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Association of NUDT15*3 and FPGS 2572C>T Variants with the Risk of Early Hematologic Toxicity During 6-MP and Low-Dose Methotrexate-Based Maintenance Therapy in Indian Patients with Acute Lymphoblastic Leukemia.

Genes

Kodidela, Sunitha S; Dorababu, Patchava P; Thakkar, Dimpal N DN; Dubashi, Biswajit B; Sundaram, Rajan R; Muralidharan, Niveditha N; Nidanapu, Ravi Prasad RP; Aribandi, Anil A; Pradhan, Suresh Chandra SC; Uppugunduri, Chakradhara Rao Satyanarayana CRS

Publication Date: 2020-05-28

Variant appearance in text: MTHFR: 1409A>C

PubMed Link: 32481505

Variant Present in the following documents:

• Main text

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: MTHFR: E470A

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: MTHFR: Glu470Ala

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 9

View BVdb publication page

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Clinical Pharmacogenetic Models of Treatment Response to Methotrexate Monotherapy in Slovenian and Serbian Rheumatoid Arthritis Patients: Differences in Patient's Management May Preclude Generalization of the Models.

Frontiers In Pharmacology

Jenko, Barbara B; Tomšič, Matija M; Jekić, Biljana B; Milić, Vera V; Dolžan, Vita V; Praprotnik, Sonja S

Publication Date: 2018

Variant appearance in text: MTHFR: Glu470Ala

PubMed Link: 29422864

Variant Present in the following documents:

• Main text
• fphar-09-00020.pdf

View BVdb publication page

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A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Cold Spring Harbor Molecular Case Studies

Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD

Publication Date: 2016-01

Variant appearance in text: MTHFR: E470A

PubMed Link: 27148581

Variant Present in the following documents:

• supp_2.1.a000687_Supp_Table_2.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MTHFR: E470A

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MTHFR: E470A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

Nature

Ley, Timothy J TJ; Mardis, Elaine R ER; Ding, Li L; Fulton, Bob B; McLellan, Michael D MD; Chen, Ken K; Dooling, David D; Dunford-Shore, Brian H BH; McGrath, Sean S; Hickenbotham, Matthew M; Cook, Lisa L; Abbott, Rachel R; Larson, David E DE; Koboldt, Dan C DC; Pohl, Craig C; Smith, Scott S; Hawkins, Amy A; Abbott, Scott S; Locke, Devin D; Hillier, Ladeana W LW; Miner, Tracie T; Fulton, Lucinda L; Magrini, Vincent V; Wylie, Todd T; Glasscock, Jarret J; Conyers, Joshua J; Sander, Nathan N; Shi, Xiaoqi X; Osborne, John R JR; Minx, Patrick P; Gordon, David D; Chinwalla, Asif A; Zhao, Yu Y; Ries, Rhonda E RE; Payton, Jacqueline E JE; Westervelt, Peter P; Tomasson, Michael H MH; Watson, Mark M; Baty, Jack J; Ivanovich, Jennifer J; Heath, Sharon S; Shannon, William D WD; Nagarajan, Rakesh R; Walter, Matthew J MJ; Link, Daniel C DC; Graubert, Timothy A TA; DiPersio, John F JF; Wilson, Richard K RK

Publication Date: 2008-11-06

Variant appearance in text: MTHFR: E470A

PubMed Link: 18987736

Variant Present in the following documents:

• NIHMS71093-supplement-7.xls, sheet 1

View BVdb publication page

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