Publications:

The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature

Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS

Publication Date: 2022-06

Variant appearance in text: DNMT3A: K766fs

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1

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Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.

American Journal Of Human Genetics

Acuna-Hidalgo, Rocio R; Sengul, Hilal H; Steehouwer, Marloes M; van de Vorst, Maartje M; Vermeulen, Sita H SH; Kiemeney, Lambertus A L M LALM; Veltman, Joris A JA; Gilissen, Christian C; Hoischen, Alexander A

Publication Date: 2017-07-06

Variant appearance in text: DNMT3A: Lys766fs

PubMed Link: 28669404

Variant Present in the following documents:

• Main text

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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: Lys766fs

PubMed Link: 24614070

Variant Present in the following documents:

• NIHMS57002-supplement-1.pdf

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