Publications:

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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: DNMT3A: L422L

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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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: DNMT3A: L422L

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs2276598

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: DNMT3A: 1266G>A; rs2276598

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: DNMT3A: L422L; rs2276598

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

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: DNMT3A: L422L; rs2276598

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: DNMT3A: 1266G>A; L422L; rs2276598

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: DNMT3A: 1266G>A; L422L; rs2276598

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: DNMT3A: 1266G>A; Leu422=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

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: DNMT3A: L422L; rs2276598

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

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: DNMT3A: 1266G>A

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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Impact of polymorphisms within genes involved in regulating DNA methylation in patients with metastatic colorectal cancer enrolled in three independent, randomised, open-label clinical trials: a meta-analysis from TRIBE, MAVERICC and FIRE-3.

European Journal Of Cancer (Oxford, England : 1990)

Puccini, Alberto A; Loupakis, Fotios F; Stintzing, Sebastian S; Cao, Shu S; Battaglin, Francesca F; Togunaka, Ryuma R; Naseem, Madiha M; Berger, Martin D MD; Soni, Shivani S; Zhang, Wu W; Mancao, Christoph C; Salhia, Bodour B; Mumenthaler, Shannon M SM; Weisenberger, Daniel J DJ; Liang, Gangning G; Cremolini, Chiara C; Heinemann, Volker V; Falcone, Alfredo A; Millstein, Joshua J; Lenz, Heinz-Josef HJ

Publication Date: 2019-04

Variant appearance in text: rs2276598

PubMed Link: 30852420

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: DNMT3A: Leu422Leu

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.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: DNMT3A: 1266G>A; rs2276598

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Genetic and transcriptional evolution alters cancer cell line drug response.

Nature

Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR

Publication Date: 2018-08

Variant appearance in text: DNMT3A: 1266G>A; L422L; rs2276598

PubMed Link: 30089904

Variant Present in the following documents:

• NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1

View BVdb publication page

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Clonal heterogeneity of acute myeloid leukemia treated with the IDH2 inhibitor enasidenib.

Nature Medicine

Quek, Lynn L; David, Muriel D MD; Kennedy, Alison A; Metzner, Marlen M; Amatangelo, Michael M; Shih, Alan A; Stoilova, Bilyana B; Quivoron, Cyril C; Heiblig, Maël M; Willekens, Christophe C; Saada, Véronique V; Alsafadi, Samar S; Vijayabaskar, M S MS; Peniket, Andy A; Bernard, Oliver A OA; Agresta, Sam S; Yen, Katharine K; MacBeth, Kyle K; Stein, Eytan E; Vassiliou, George S GS; Levine, Ross R; De Botton, Stephane S; Thakurta, Anjan A; Penard-Lacronique, Virginie V; Vyas, Paresh P

Publication Date: 2018-08

Variant appearance in text: rs2276598

PubMed Link: 30013198

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine

Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA

Publication Date: 2018-09

Variant appearance in text: rs2276598

PubMed Link: 30008175

Variant Present in the following documents:

• MGG3-6-749-s004.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: rs2276598

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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Common variants of ARID1A and KAT2B are associated with obesity in Indian adolescents.

Scientific Reports

Giri, Anil K AK; Parekatt, Vaisak V; Dwivedi, Om Prakash OP; Banerjee, Priyanka P; Bandesh, Khushdeep K; Prasad, Gauri G; Tandon, Nikhil N; Bharadwaj, Dwaipayan D

Publication Date: 2018-03-02

Variant appearance in text: rs2276598

PubMed Link: 29500370

Variant Present in the following documents:

• 41598_2018_22231_MOESM1_ESM.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: rs2276598

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells.

Haematologica

Daniele, Giulia G; Simonetti, Giorgia G; Fusilli, Caterina C; Iacobucci, Ilaria I; Lonoce, Angelo A; Palazzo, Antonio A; Lomiento, Mariana M; Mammoli, Fabiana F; Marsano, Renè Massimiliano RM; Marasco, Elena E; Mantovani, Vilma V; Quentmeier, Hilmar H; Drexler, Hans G HG; Ding, Jie J; Palumbo, Orazio O; Carella, Massimo M; Nadarajah, Niroshan N; Perricone, Margherita M; Ottaviani, Emanuela E; Baldazzi, Carmen C; Testoni, Nicoletta N; Papayannidis, Cristina C; Ferrari, Sergio S; Mazza, Tommaso T; Martinelli, Giovanni G; Storlazzi, Clelia Tiziana CT

Publication Date: 2017-07

Variant appearance in text: DNMT3A: L422L

PubMed Link: 28411256

Variant Present in the following documents:

• 1021204.pdf

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: rs2276598

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s3.xlsx, sheet 1
• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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Evaluation of DNMT3A genetic polymorphisms as outcome predictors in AML patients.

Oncotarget

Yuan, Xiao-Qing XQ; Zhang, Dao-Yu DY; Yan, Han H; Yang, Yong-Long YL; Zhu, Ke-Wei KW; Chen, Yan-Hong YH; Li, Xi X; Yin, Ji-Ye JY; Li, Xiao-Lin XL; Zeng, Hui H; Chen, Xiao-Ping XP

Publication Date: 2016-09-13

Variant appearance in text: DNMT3A: Leu422Leu; rs2276598

PubMed Link: 27528035

Variant Present in the following documents:

• Main text
• oncotarget-07-60555.pdf

View BVdb publication page

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Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports

Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V

Publication Date: 2015-10-13

Variant appearance in text: rs2276598

PubMed Link: 26440892

Variant Present in the following documents:

• 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: DNMT3A: L422L; rs2276598

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Incidence and prognostic impact of DNMT3A mutations in Korean normal karyotype acute myeloid leukemia patients.

Biomed Research International

Park, Sang Hyuk SH; Choi, Jae-Cheol JC; Kim, Shine Young SY; Yi, Jongyoun J; Oh, Seung Hwan SH; Kim, In-Suk IS; Kim, Hyung-Hoi HH; Chang, Chulhun Ludgerus CL; Lee, Eun Yup EY; Song, Moo-Kon MK; Shin, Ho-Jin HJ; Chung, Joo Seop JS

Publication Date: 2015

Variant appearance in text: DNMT3A: 1266G>A; rs2276598

PubMed Link: 25650308

Variant Present in the following documents:

• Main text
• BMRI2015-723682.pdf

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: DNMT3A: L422L; rs2276598

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Effects of somatic mutations are associated with SNP in the progression of individual acute myeloid leukemia patient: the two-hit theory explains inherited predisposition to pathogenesis.

Genomics & Informatics

Park, Soyoung S; Koh, Youngil Y; Yoon, Sung-Soo SS

Publication Date: 2013-03

Variant appearance in text: rs2276598

PubMed Link: 23613680

Variant Present in the following documents:

• gni-11-34.pdf

View BVdb publication page

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Recurrent DNMT3A mutations in patients with myelodysplastic syndromes.

Leukemia

Walter, M J MJ; Ding, L L; Shen, D D; Shao, J J; Grillot, M M; McLellan, M M; Fulton, R R; Schmidt, H H; Kalicki-Veizer, J J; O'Laughlin, M M; Kandoth, C C; Baty, J J; Westervelt, P P; DiPersio, J F JF; Mardis, E R ER; Wilson, R K RK; Ley, T J TJ; Graubert, T A TA

Publication Date: 2011-07

Variant appearance in text: rs2276598

PubMed Link: 21415852

Variant Present in the following documents:

• Main text
• nihms271800.pdf

View BVdb publication page

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Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome.

Plos One

Drini, Musa M; Wong, Nicholas C NC; Scott, Hamish S HS; Craig, Jeffrey M JM; Dobrovic, Alexander A; Hewitt, Chelsee A CA; Dow, Christofer C; Young, Joanne P JP; Jenkins, Mark A MA; Saffery, Richard R; Macrae, Finlay A FA

Publication Date: 2011-02-10

Variant appearance in text: rs2276598

PubMed Link: 21347319

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in healthy oldest-old.

Plos One

Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR

Publication Date: 2009-08-14

Variant appearance in text: rs2276598

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

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Association between common variation in 120 candidate genes and breast cancer risk.

Plos Genetics

Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,

Publication Date: 2007-03-16

Variant appearance in text: rs2276598

PubMed Link: 17367212

Variant Present in the following documents:

View BVdb publication page

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