Publications:

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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: rs2289195

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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MicroRNAs in the Onset of Schizophrenia.

Cells

Thomas, Kristen T KT; Zakharenko, Stanislav S SS

Publication Date: 2021-10-06

Variant appearance in text: rs2289195

PubMed Link: 34685659

Variant Present in the following documents:

• Main text
• cells-10-02679.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: DNMT3A: 2173+26C>T; rs2289195

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: rs2289195

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: 2173+26C>T

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

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: DNMT3A: 2173+26C>T; rs2289195

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic regulation of linear growth.

Annals Of Pediatric Endocrinology & Metabolism

Yue, Shanna S; Whalen, Philip P; Jee, Youn Hee YH

Publication Date: 2019-03

Variant appearance in text: rs2289195

PubMed Link: 30943674

Variant Present in the following documents:

• Main text
• apem-2019-24-1-2.pdf

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: 2173+26C>T

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: 2173+26C>T; rs2289195

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Journal Of The National Cancer Institute

Qian, Frank F; Wang, Shengfeng S; Mitchell, Jonathan J; McGuffog, Lesley L; Barrowdale, Daniel D; Leslie, Goska G; Oosterwijk, Jan C JC; Chung, Wendy K WK; Evans, D Gareth DG; Engel, Christoph C; Kast, Karin K; Aalfs, Cora M CM; Adank, Muriel A MA; Adlard, Julian J; Agnarsson, Bjarni A BA; Aittomäki, Kristiina K; Alducci, Elisa E; Andrulis, Irene L IL; Arun, Banu K BK; Ausems, Margreet G E M MGEM; Azzollini, Jacopo J; Barouk-Simonet, Emmanuelle E; Barwell, Julian J; Belotti, Muriel M; Benitez, Javier J; Berger, Andreas A; Borg, Ake A; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caldes, Trinidad T; Caligo, Maria A MA; Campbell, Ian I; Caputo, Sandrine M SM; Chiquette, Jocelyne J; Claes, Kathleen B M KBM; Margriet Collée, J J; Couch, Fergus J FJ; Coupier, Isabelle I; Daly, Mary B MB; Davidson, Rosemarie R; Diez, Orland O; Domchek, Susan M SM; Donaldson, Alan A; Dorfling, Cecilia M CM; Eeles, Ros R; Feliubadaló, Lidia L; Foretova, Lenka L; Fowler, Jeffrey J; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; Garcia-Barberan, Vanesa V; Glendon, Gord G; Godwin, Andrew K AK; Gómez Garcia, Encarna B EB; Gronwald, Jacek J; Hahnen, Eric E; Hamann, Ute U; Henderson, Alex A; Hendricks, Carolyn B CB; Hopper, John L JL; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Ángel Á; Jakubowska, Anna A; Kaczmarek, Katarzyna K; Kang, Eunyoung E; Karlan, Beth Y BY; Kets, Carolien M CM; Kim, Sung-Won SW; Kim, Zisun Z; Kwong, Ava A; Laitman, Yael Y; Lasset, Christine C; Hyuk Lee, Min M; Won Lee, Jong J; Lee, Jihyoun J; Lester, Jenny J; Lesueur, Fabienne F; Loud, Jennifer T JT; Lubinski, Jan J; Mebirouk, Noura N; Meijers-Heijboer, Hanne E J HEJ; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Mooij, Thea M TM; Morrison, Patrick J PJ; Mouret-Fourme, Emmanuelle E; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nielsen, Finn C FC; Nussbaum, Robert L RL; Offit, Kenneth K; Olah, Edith E; Ong, Kai-Ren KR; Ottini, Laura L; Park, Sue K SK; Peterlongo, Paolo P; Pfeiler, Georg G; Phelan, Catherine M CM; Poppe, Bruce B; Pradhan, Nisha N; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Robson, Mark M; Rodriguez, Gustavo C GC; Schmutzler, Rita K RK; Hutten Selkirk, Christina G CG; Shah, Payal D PD; Simard, Jacques J; Singer, Christian F CF; Sokolowska, Johanna J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Yen Tan, Yen Y; Teixeira, R Manuel RM; Teo, Soo H SH; Terry, Mary Beth MB; Thomassen, Mads M; Tischkowitz, Marc M; Toland, Amanda E AE; Tucker, Katherine M KM; Tung, Nadine N; van Asperen, Christi J CJ; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Yannoukakos, Drakoulis D; , ; , ; , ; Greene, Mark H MH; Rookus, Matti A MA; Easton, Douglas F DF; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Goldgar, David E DE; Olopade, Olufunmilayo I OI; Rebbeck, Timothy R TR; Huo, Dezheng D

Publication Date: 2019-04-01

Variant appearance in text: rs2289195

PubMed Link: 30312457

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-throughput single-cell DNA sequencing of acute myeloid leukemia tumors with droplet microfluidics.

Genome Research

Pellegrino, Maurizio M; Sciambi, Adam A; Treusch, Sebastian S; Durruthy-Durruthy, Robert R; Gokhale, Kaustubh K; Jacob, Jose J; Chen, Tina X TX; Geis, Jennifer A JA; Oldham, William W; Matthews, Jairo J; Kantarjian, Hagop H; Futreal, P Andrew PA; Patel, Keyur K; Jones, Keith W KW; Takahashi, Koichi K; Eastburn, Dennis J DJ

Publication Date: 2018-09

Variant appearance in text: DNMT3A: 2173+26C>T

PubMed Link: 30087104

Variant Present in the following documents:

• supp_gr.232272.117_Supplemental_Table_S2.pdf

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: rs2289195

PubMed Link: 30008175

Variant Present in the following documents:

• MGG3-6-749-s004.xlsx, sheet 1

View BVdb publication page

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DNA methyltransferase 3A gene polymorphism contributes to daily life stress susceptibility.

Psychology Research And Behavior Management

Barliana, Melisa I MI; Amalya, Shintya N SN; Pradipta, Ivan S IS; Alfian, Sofa D SD; Kusuma, Arif Sw AS; Milanda, Tiana T; Abdulah, Rizky R

Publication Date: 2017

Variant appearance in text: rs2289195

PubMed Link: 29290696

Variant Present in the following documents:

• Main text
• prbm-10-395.pdf

View BVdb publication page

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Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

American Journal Of Human Genetics

Tatton-Brown, Katrina K; Loveday, Chey C; Yost, Shawn S; Clarke, Matthew M; Ramsay, Emma E; Zachariou, Anna A; Elliott, Anna A; Wylie, Harriet H; Ardissone, Anna A; Rittinger, Olaf O; Stewart, Fiona F; Temple, I Karen IK; Cole, Trevor T; , ; Mahamdallie, Shazia S; Seal, Sheila S; Ruark, Elise E; Rahman, Nazneen N

Publication Date: 2017-05-04

Variant appearance in text: rs2289195

PubMed Link: 28475857

Variant Present in the following documents:

• mmc3.pdf

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: rs2289195

PubMed Link: 27528035

Variant Present in the following documents:

• Main text
• oncotarget-07-60555.pdf

View BVdb publication page

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Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank.

Bmj (Clinical Research Ed.)

Tyrrell, Jessica J; Jones, Samuel E SE; Beaumont, Robin R; Astley, Christina M CM; Lovell, Rebecca R; Yaghootkar, Hanieh H; Tuke, Marcus M; Ruth, Katherine S KS; Freathy, Rachel M RM; Hirschhorn, Joel N JN; Wood, Andrew R AR; Murray, Anna A; Weedon, Michael N MN; Frayling, Timothy M TM

Publication Date: 2016-03-08

Variant appearance in text: rs2289195

PubMed Link: 26956984

Variant Present in the following documents:

• tyrj029564.ww1_default.pdf

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: rs2289195

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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DNA methyl transferase (DNMT) gene polymorphisms could be a primary event in epigenetic susceptibility to schizophrenia.

Plos One

Saradalekshmi, Koramannil Radha KR; Neetha, Nanoth Vellichiramal NV; Sathyan, Sanish S; Nair, Indu V IV; Nair, Chandrasekharan M CM; Banerjee, Moinak M

Publication Date: 2014

Variant appearance in text: rs2289195

PubMed Link: 24859147

Variant Present in the following documents:

• Main text
• pone.0098182.pdf

View BVdb publication page

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Cocoa Consumption Alters the Global DNA Methylation of Peripheral Leukocytes in Humans with Cardiovascular Disease Risk Factors: A Randomized Controlled Trial.

Plos One

Crescenti, Anna A; Solà, Rosa R; Valls, Rosa M RM; Caimari, Antoni A; Del Bas, Josep M JM; Anguera, Anna A; Anglés, Neus N; Arola, Lluís L

Publication Date: 2013

Variant appearance in text: rs2289195

PubMed Link: 23840361

Variant Present in the following documents:

• Main text

View BVdb publication page

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DNMT1, DNMT3A and DNMT3B gene variants in relation to ovarian cancer risk in the Polish population.

Molecular Biology Reports

Mostowska, Adrianna A; Sajdak, Stefan S; Pawlik, Piotr P; Lianeri, Margarita M; Jagodzinski, Paweł P PP

Publication Date: 2013-08

Variant appearance in text: rs2289195

PubMed Link: 23666104

Variant Present in the following documents:

• Main text
• 11033_2013_Article_2589.pdf

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: rs2289195

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: rs2289195

PubMed Link: 17367212

Variant Present in the following documents:

View BVdb publication page

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