Publications:

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A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances

Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T

Publication Date: 2023

Variant appearance in text: NAPRT: G428G; rs2290416

PubMed Link: 37215953

Variant Present in the following documents:

• vdad043_suppl_supplementary_tables.xlsx, sheet 1

View BVdb publication page

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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: NAPRT: G428G; rs2290416

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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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: NAPRT1: G428G

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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Genome-wide pathogenesis interpretation using a heat diffusion-based systems genetics method and implications for gene function annotation.

Molecular Genetics & Genomic Medicine

Quan, Yuan Y; Zhang, Qing-Ye QY; Lv, Bo-Min BM; Xu, Rui-Feng RF; Zhang, Hong-Yu HY

Publication Date: 2020-10

Variant appearance in text: NAPRT: G428G; rs2290416

PubMed Link: 32869547

Variant Present in the following documents:

• MGG3-8-e1456-s001.xlsx, sheet 14

View BVdb publication page

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Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.

Jama Psychiatry

Periyasamy, Sathish S; John, Sujit S; Padmavati, Raman R; Rajendren, Preeti P; Thirunavukkarasu, Priyadarshini P; Gratten, Jacob J; Vinkhuyzen, Anna A; McRae, Allan A; Holliday, Elizabeth G EG; Nyholt, Dale R DR; Nancarrow, Derek D; Bakshi, Andrew A; Hemani, Gibran G; Nertney, Deborah D; Smith, Heather H; Filippich, Cheryl C; Patel, Kalpana K; Fowdar, Javed J; McLean, Duncan D; Tirupati, Srinivasan S; Nagasundaram, Arunkumar A; Gundugurti, Prasad Rao PR; Selvaraj, Krishnamurthy K; Jegadeesan, Jayaprakash J; Jorde, Lynn B LB; Wray, Naomi R NR; Brown, Matthew A MA; Suetani, Rachel R; Giacomotto, Jean J; Thara, Rangaswamy R; Mowry, Bryan J BJ

Publication Date: 2019-10-01

Variant appearance in text: rs2290416

PubMed Link: 31268507

Variant Present in the following documents:

• Main text

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: NAPRT1: 1284C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: NAPRT1: 1284C>T; rs2290416

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: NAPRT: G428G; rs2290416

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Preliminary evidence for association of genetic variants in pri-miR-34b/c and abnormal miR-34c expression with attention deficit and hyperactivity disorder.

Translational Psychiatry

Garcia-Martínez, I I; Sánchez-Mora, C C; Pagerols, M M; Richarte, V V; Corrales, M M; Fadeuilhe, C C; Cormand, B B; Casas, M M; Ramos-Quiroga, J A JA; Ribasés, M M

Publication Date: 2016-08-30

Variant appearance in text: rs2290416

PubMed Link: 27576168

Variant Present in the following documents:

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: NAPRT1: G428G; rs2290416

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: NAPRT1: G428G; rs2290416

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.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: NAPRT1: G428G; rs2290416

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples.

Scientific Reports

Duarte-Pereira, Sara S; Silva, Sarah S SS; Azevedo, Luísa L; Castro, Luísa L; Amorim, António A; Silva, Raquel M RM

Publication Date: 2014-09-09

Variant appearance in text: rs2290416

PubMed Link: 25201160

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants.

American Journal Of Human Genetics

Li, Xin X; Battle, Alexis A; Karczewski, Konrad J KJ; Zappala, Zach Z; Knowles, David A DA; Smith, Kevin S KS; Kukurba, Kim R KR; Wu, Eric E; Simon, Noah N; Montgomery, Stephen B SB

Publication Date: 2014-09-04

Variant appearance in text: rs2290416

PubMed Link: 25192044

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: NAPRT1: G428G; rs2290416

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.

Human Molecular Genetics

Murphy, Amy A; Chu, Jen-Hwa JH; Xu, Mousheng M; Carey, Vincent J VJ; Lazarus, Ross R; Liu, Andy A; Szefler, Stanley J SJ; Strunk, Robert R; Demuth, Karen K; Castro, Mario M; Hansel, Nadia N NN; Diette, Gregory B GB; Vonakis, Becky M BM; Adkinson, N Franklin NF; Klanderman, Barbara J BJ; Senter-Sylvia, Jody J; Ziniti, John J; Lange, Christoph C; Pastinen, Tomi T; Raby, Benjamin A BA

Publication Date: 2010-12-01

Variant appearance in text: rs2290416

PubMed Link: 20833654

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association studies in ADHD.

Human Genetics

Franke, Barbara B; Neale, Benjamin M BM; Faraone, Stephen V SV

Publication Date: 2009-07

Variant appearance in text: rs2290416

PubMed Link: 19384554

Variant Present in the following documents:

• Main text
• 439_2009_Article_663.pdf

View BVdb publication page

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