Publications:

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Genome Research

Jeffries, Aaron R AR; Maroofian, Reza R; Salter, Claire G CG; Chioza, Barry A BA; Cross, Harold E HE; Patton, Michael A MA; Dempster, Emma E; Temple, I Karen IK; Mackay, Deborah J G DJG; Rezwan, Faisal I FI; Aksglaede, Lise L; Baralle, Diana D; Dabir, Tabib T; Hunter, Matthew F MF; Kamath, Arveen A; Kumar, Ajith A; Newbury-Ecob, Ruth R; Selicorni, Angelo A; Springer, Amanda A; Van Maldergem, Lionel L; Varghese, Vinod V; Yachelevich, Naomi N; Tatton-Brown, Katrina K; Mill, Jonathan J; Crosby, Andrew H AH; Baple, Emma L EL

Publication Date: 2019-07

Variant appearance in text: DNMT3A: 1645T>C; Cys549Arg

PubMed Link: 31160375

Variant Present in the following documents:

• 1057.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: 1645T>C; Cys549Arg

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: 1645T>C; Cys549Arg

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: 1645T>C; Cys549Arg

PubMed Link: 24614070

Variant Present in the following documents:

• Main text
• emss-57002.pdf

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