Publications:

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: DNMT3A: 888_890del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

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Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor.

Cancer Discovery

Huang, Yung-Hsin YH; Chen, Chun-Wei CW; Sundaramurthy, Venkatasubramaniam V; Słabicki, Mikołaj M; Hao, Dapeng D; Watson, Caroline J CJ; Tovy, Ayala A; Reyes, Jaime M JM; Dakhova, Olga O; Crovetti, Brielle R BR; Galonska, Christina C; Lee, Minjung M; Brunetti, Lorenzo L; Zhou, Yubin Y; Tatton-Brown, Katrina K; Huang, Yun Y; Cheng, Xiaodong X; Meissner, Alexander A; Valk, Peter J M PJM; Van Maldergem, Lionel L; Sanders, Mathijs A MA; Blundell, Jamie R JR; Li, Wei W; Ebert, Benjamin L BL; Goodell, Margaret A MA

Publication Date: 2022-01

Variant appearance in text: DNMT3A: W297del

PubMed Link: 34429321

Variant Present in the following documents:

• Main text
• 220.pdf

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Proteins in DNA methylation and their role in neural stem cell proliferation and differentiation.

Cell Regeneration (London, England)

Sun, Jiaqi J; Yang, Junzheng J; Miao, Xiaoli X; Loh, Horace H HH; Pei, Duanqing D; Zheng, Hui H

Publication Date: 2021-03-02

Variant appearance in text: DNMT3A: W297del

PubMed Link: 33649938

Variant Present in the following documents:

• Main text
• 13619_2020_Article_70.pdf

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DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders.

Cell Reports

Christian, Diana L DL; Wu, Dennis Y DY; Martin, Jenna R JR; Moore, J Russell JR; Liu, Yiran R YR; Clemens, Adam W AW; Nettles, Sabin A SA; Kirkland, Nicole M NM; Papouin, Thomas T; Hill, Cheryl A CA; Wozniak, David F DF; Dougherty, Joseph D JD; Gabel, Harrison W HW

Publication Date: 2020-11-24

Variant appearance in text: DNMT3A: W297del

PubMed Link: 33238114

Variant Present in the following documents:

• Main text
• nihms-1649680.pdf

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Alterations to DNMT3A in Hematologic Malignancies.

Cancer Research

Venugopal, Kartika K; Feng, Yang Y; Shabashvili, Daniil D; Guryanova, Olga A OA

Publication Date: 2021-01-15

Variant appearance in text: DNMT3A: W297del

PubMed Link: 33087320

Variant Present in the following documents:

• Main text

View BVdb publication page

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The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.

Nature

Weinberg, Daniel N DN; Papillon-Cavanagh, Simon S; Chen, Haifen H; Yue, Yuan Y; Chen, Xiao X; Rajagopalan, Kartik N KN; Horth, Cynthia C; McGuire, John T JT; Xu, Xinjing X; Nikbakht, Hamid H; Lemiesz, Agata E AE; Marchione, Dylan M DM; Marunde, Matthew R MR; Meiners, Matthew J MJ; Cheek, Marcus A MA; Keogh, Michael-Christopher MC; Bareke, Eric E; Djedid, Anissa A; Harutyunyan, Ashot S AS; Jabado, Nada N; Garcia, Benjamin A BA; Li, Haitao H; Allis, C David CD; Majewski, Jacek J; Lu, Chao C

Publication Date: 2019-09

Variant appearance in text: DNMT3A: W297del

PubMed Link: 31485078

Variant Present in the following documents:

• Main text
• NIHMS1536823-supplement-2.pdf
• nihms-1536823.pdf

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Effect of Disease-Associated Germline Mutations on Structure Function Relationship of DNA Methyltransferases.

Genes

Norvil, Allison B AB; Saha, Debapriya D; Dar, Mohd Saleem MS; Gowher, Humaira H

Publication Date: 2019-05-14

Variant appearance in text: DNMT3A: Trp297del

PubMed Link: 31091831

Variant Present in the following documents:

• Main text
• genes-10-00369.pdf

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Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Nature Genetics

Heyn, Patricia P; Logan, Clare V CV; Fluteau, Adeline A; Challis, Rachel C RC; Auchynnikava, Tatsiana T; Martin, Carol-Anne CA; Marsh, Joseph A JA; Taglini, Francesca F; Kilanowski, Fiona F; Parry, David A DA; Cormier-Daire, Valerie V; Fong, Chin-To CT; Gibson, Kate K; Hwa, Vivian V; Ibáñez, Lourdes L; Robertson, Stephen P SP; Sebastiani, Giorgia G; Rappsilber, Juri J; Allshire, Robin C RC; Reijns, Martin A M MAM; Dauber, Andrew A; Sproul, Duncan D; Jackson, Andrew P AP

Publication Date: 2019-01

Variant appearance in text: DNMT3A: W297del

PubMed Link: 30478443

Variant Present in the following documents:

• NIHMS1509438-supplement-2.pdf

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Wellcome Open Research

Tatton-Brown, Katrina K; Zachariou, Anna A; Loveday, Chey C; Renwick, Anthony A; Mahamdallie, Shazia S; Aksglaede, Lise L; Baralle, Diana D; Barge-Schaapveld, Daniela D; Blyth, Moira M; Bouma, Mieke M; Breckpot, Jeroen J; Crabb, Beau B; Dabir, Tabib T; Cormier-Daire, Valerie V; Fauth, Christine C; Fisher, Richard R; Gener, Blanca B; Goudie, David D; Homfray, Tessa T; Hunter, Matthew M; Jorgensen, Agnete A; Kant, Sarina G SG; Kirally-Borri, Cathy C; Koolen, David D; Kumar, Ajith A; Labilloy, Anatalia A; Lees, Melissa M; Marcelis, Carlo C; Mercer, Catherine C; Mignot, Cyril C; Miller, Kathryn K; Neas, Katherine K; Newbury-Ecob, Ruth R; Pilz, Daniela T DT; Posmyk, Renata R; Prada, Carlos C; Ramsey, Keri K; Randolph, Linda M LM; Selicorni, Angelo A; Shears, Deborah D; Suri, Mohnish M; Temple, I Karen IK; Turnpenny, Peter P; Val Maldergem, Lionel L; Varghese, Vinod V; Veenstra-Knol, Hermine E HE; Yachelevich, Naomi N; Yates, Laura L; , ; , ; Rahman, Nazneen N

Publication Date: 2018

Variant appearance in text: DNMT3A: 889_891delTGG

PubMed Link: 29900417

Variant Present in the following documents:

• Main text
• wellcomeopenres-3-15708.pdf

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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: DNMT3A: 889_891delTGG; Trp297del

PubMed Link: 28475857

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Nature Genetics

Tatton-Brown, Katrina K; Seal, Sheila S; Ruark, Elise E; Harmer, Jenny J; Ramsay, Emma E; Del Vecchio Duarte, Silvana S; Zachariou, Anna A; Hanks, Sandra S; O'Brien, Eleanor E; Aksglaede, Lise L; Baralle, Diana D; Dabir, Tabib T; Gener, Blanca B; Goudie, David D; Homfray, Tessa T; Kumar, Ajith A; Pilz, Daniela T DT; Selicorni, Angelo A; Temple, I Karen IK; Van Maldergem, Lionel L; Yachelevich, Naomi N; , ; van Montfort, Robert R; Rahman, Nazneen N

Publication Date: 2014-04

Variant appearance in text: DNMT3A: 889_891delTGG; Trp297del

PubMed Link: 24614070

Variant Present in the following documents:

• Main text
• emss-57002.pdf

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