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: N/A

PubMed Link: 37215953

Variant Present in the following documents:

View BVdb publication page

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Characteristics of circulating small noncoding RNAs in plasma and serum during human aging.

Aging Medicine (Milton (N.S.W))

Xiao, Ping P; Shi, Zhangyue Z; Liu, Chenang C; Hagen, Darren E DE

Publication Date: 2023-03

Variant appearance in text: rs1800392

PubMed Link: 36911092

Variant Present in the following documents:

• AGM2-6-35-s002.xlsx, sheet 3

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: WRN: L787L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: WRN: L787L

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

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: WRN: L787L

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

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Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.

Journal Of Medical Genetics

Miller, Danny E DE; Lee, Lin L; Galey, Miranda M; Kandhaya-Pillai, Renuka R; Tischkowitz, Marc M; Amalnath, Deepak D; Vithlani, Avadh A; Yokote, Koutaro K; Kato, Hisaya H; Maezawa, Yoshiro Y; Takada-Watanabe, Aki A; Takemoto, Minoru M; Martin, George M GM; Eichler, Evan E EE; Hisama, Fuki M FM; Oshima, Junko J

Publication Date: 2022-05-09

Variant appearance in text: WRN: 2361G>T

PubMed Link: 35534204

Variant Present in the following documents:

• Main text
• jmedgenet-2022-108485.pdf

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 35486589

Variant Present in the following documents:

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: WRN: L787L

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Genetic variations in ATM and H2AX loci contribute to risk of hematological abnormalities in individuals exposed to BTEX chemicals.

Journal Of Clinical Laboratory Analysis

Jafari Roshan, Samaneh S; Mansoori, Yaser Y; Hosseini, Seyed Reza SR; Sabour, Davood D; Daraei, Abdolreza A

Publication Date: 2022-04

Variant appearance in text: rs1800392

PubMed Link: 35235704

Variant Present in the following documents:

• Main text
• JCLA-36-e24321.pdf

View BVdb publication page

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The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports

Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL

Publication Date: 2021-09

Variant appearance in text: rs1800392

PubMed Link: 34295994

Variant Present in the following documents:

• Main text
• HSR2-4-e327.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34054912

Variant Present in the following documents:

View BVdb publication page

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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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: N/A

PubMed Link: 33420045

Variant Present in the following documents:

View BVdb publication page

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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: WRN: 2361G>T; Leu787=

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1

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: N/A

PubMed Link: 32529721

Variant Present in the following documents:

View BVdb publication page

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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: N/A

PubMed Link: 32046637

Variant Present in the following documents:

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: WRN: 2361G>T; Leu787=

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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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: N/A

PubMed Link: 31640808

Variant Present in the following documents:

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1800392

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_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: WRN: 2361G>T; rs1800392

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29974678

Variant Present in the following documents:

View BVdb publication page

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics

Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J

Publication Date: 2018-06-22

Variant appearance in text: rs1800392

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: WRN: L787L

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s003.xlsx, sheet 1

View BVdb publication page

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Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget

Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D

Publication Date: 2017-12-01

Variant appearance in text: WRN: L787L

PubMed Link: 29285300

Variant Present in the following documents:

• oncotarget-08-105882-s002.xlsx, sheet 1

View BVdb publication page

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A SNP panel and online tool for checking genotype concordance through comparing QR codes.

Plos One

Du, Yonghong Y; Martin, Joshua S JS; McGee, John J; Yang, Yuchen Y; Liu, Eric Yi EY; Sun, Yingrui Y; Geihs, Matthias M; Kong, Xuejun X; Zhou, Eric Lingfeng EL; Li, Yun Y; Huang, Jie J

Publication Date: 2017

Variant appearance in text: rs1800392

PubMed Link: 28926565

Variant Present in the following documents:

• Main text
• pone.0182438.pdf

View BVdb publication page

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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: rs1800392

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: WRN: 2361G>T; Leu787=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: N/A

PubMed Link: 28499365

Variant Present in the following documents:

View BVdb publication page

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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Human Mutation

Yokote, Koutaro K; Chanprasert, Sirisak S; Lee, Lin L; Eirich, Katharina K; Takemoto, Minoru M; Watanabe, Aki A; Koizumi, Naoko N; Lessel, Davor D; Mori, Takayasu T; Hisama, Fuki M FM; Ladd, Paula D PD; Angle, Brad B; Baris, Hagit H; Cefle, Kivanc K; Palanduz, Sukru S; Ozturk, Sukru S; Chateau, Antoinette A; Deguchi, Kentaro K; Easwar, T K M TK; Federico, Antonio A; Fox, Amy A; Grebe, Theresa A TA; Hay, Beverly B; Nampoothiri, Sheela S; Seiter, Karen K; Streeten, Elizabeth E; Piña-Aguilar, Raul E RE; Poke, Gemma G; Poot, Martin M; Posmyk, Renata R; Martin, George M GM; Kubisch, Christian C; Schindler, Detlev D; Oshima, Junko J

Publication Date: 2017-01

Variant appearance in text: rs1800392

PubMed Link: 27667302

Variant Present in the following documents:

• Main text

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: N/A

PubMed Link: 26549847

Variant Present in the following documents:

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: N/A

PubMed Link: 25944692

Variant Present in the following documents:

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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

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Genome maintenance and human longevity.

Current Opinion In Genetics & Development

Cho, Miook M; Suh, Yousin Y

Publication Date: 2014-06

Variant appearance in text: N/A

PubMed Link: 25151201

Variant Present in the following documents:

View BVdb publication page

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Polymorphisms in DNA repair genes and MDR1 and the risk for non-Hodgkin lymphoma.

International Journal Of Molecular Sciences

Kim, Hee Nam HN; Kim, Nan Young NY; Yu, Li L; Kim, Yeo-Kyeoung YK; Lee, Il-Kwon IK; Yang, Deok-Hwan DH; Lee, Je-Jung JJ; Shin, Min-Ho MH; Park, Kyeong-Soo KS; Choi, Jin-Su JS; Kim, Hyeoung-Joon HJ

Publication Date: 2014-04-21

Variant appearance in text: N/A

PubMed Link: 24756092

Variant Present in the following documents:

View BVdb publication page

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Meta‐analysis of genetic variants associated with human exceptional longevity.

Aging

Sebastiani, Paola P; Bae, Harold H; Sun, Fangui X FX; Andersen, Stacy L SL; Daw, E Warwick EW; Malovini, Alberto A; Kojima, Toshio T; Hirose, Nobuyoshi N; Schupf, Nicole N; Puca, Annibale A; Perls, Thomas T TT

Publication Date: 2013-09

Variant appearance in text: rs1800392

PubMed Link: 24244950

Variant Present in the following documents:

• Main text
• aging-05-653.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: N/A

PubMed Link: 24219164

Variant Present in the following documents:

View BVdb publication page

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Genetic signatures of exceptional longevity in humans.

Plos One

Sebastiani, Paola P; Solovieff, Nadia N; Dewan, Andrew T AT; Walsh, Kyle M KM; Puca, Annibale A; Hartley, Stephen W SW; Melista, Efthymia E; Andersen, Stacy S; Dworkis, Daniel A DA; Wilk, Jemma B JB; Myers, Richard H RH; Steinberg, Martin H MH; Montano, Monty M; Baldwin, Clinton T CT; Hoh, Josephine J; Perls, Thomas T TT

Publication Date: 2012

Variant appearance in text: rs1800392

PubMed Link: 22279548

Variant Present in the following documents:

• Main text
• pone.0029848.pdf

View BVdb publication page

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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Human Genetics

Friedrich, Katrin K; Lee, Lin L; Leistritz, Dru F DF; Nürnberg, Gudrun G; Saha, Bidisha B; Hisama, Fuki M FM; Eyman, Daniel K DK; Lessel, Davor D; Nürnberg, Peter P; Li, Chumei C; Garcia-F-Villalta, María J MJ; Kets, Carolien M CM; Schmidtke, Joerg J; Cruz, Vítor Tedim VT; Van den Akker, Peter C PC; Boak, Joseph J; Peter, Dincy D; Compoginis, Goli G; Cefle, Kivanc K; Ozturk, Sukru S; López, Norberto N; Wessel, Theda T; Poot, Martin M; Ippel, P F PF; Groff-Kellermann, Birgit B; Hoehn, Holger H; Martin, George M GM; Kubisch, Christian C; Oshima, Junko J

Publication Date: 2010-07

Variant appearance in text: WRN: 2361G>T; L787L

PubMed Link: 20443122

Variant Present in the following documents:

• Main text

View BVdb publication page

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Werner syndrome gene variants in human sarcomas.

Molecular Carcinogenesis

Hsu, Jessica J JJ; Kamath-Loeb, Ashwini S AS; Glick, Eitan E; Wallden, Brett B; Swisshelm, Karen K; Rubin, Brian P BP; Loeb, Lawrence A LA

Publication Date: 2010-02

Variant appearance in text: WRN: 2361G>T

PubMed Link: 19824023

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.

Carcinogenesis

Lan, Qing Q; Zhang, Luoping L; Shen, Min M; Jo, William J WJ; Vermeulen, Roel R; Li, Guilan G; Vulpe, Christopher C; Lim, Sophia S; Ren, Xuefeng X; Rappaport, Stephen M SM; Berndt, Sonja I SI; Yeager, Meredith M; Yuenger, Jeff J; Hayes, Richard B RB; Linet, Martha M; Yin, Songnian S; Chanock, Stephen S; Smith, Martyn T MT; Rothman, Nathaniel N

Publication Date: 2009-01

Variant appearance in text: rs1800392

PubMed Link: 18978339

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs1800392

PubMed Link: 18547414

Variant Present in the following documents:

• Main text
• 1755-8794-1-24.pdf
• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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Monozygotic twins reveal germline contribution to allelic expression differences.

American Journal Of Human Genetics

Cheung, Vivian G VG; Bruzel, Alan A; Burdick, Joshua T JT; Morley, Michael M; Devlin, James L JL; Spielman, Richard S RS

Publication Date: 2008-06

Variant appearance in text: rs1800392

PubMed Link: 18513681

Variant Present in the following documents:

• Main text

View BVdb publication page

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