Publications:

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Nature Communications

Aref-Eshghi, Erfan E; Bend, Eric G EG; Hood, Rebecca L RL; Schenkel, Laila C LC; Carere, Deanna Alexis DA; Chakrabarti, Rana R; Nagamani, Sandesh C S SCS; Cheung, Sau Wai SW; Campeau, Philippe M PM; Prasad, Chitra C; Siu, Victoria Mok VM; Brady, Lauren L; Tarnopolsky, Mark A MA; Callen, David J DJ; Innes, A Micheil AM; White, Susan M SM; Meschino, Wendy S WS; Shuen, Andrew Y AY; Paré, Guillaume G; Bulman, Dennis E DE; Ainsworth, Peter J PJ; Lin, Hanxin H; Rodenhiser, David I DI; Hennekam, Raoul C RC; Boycott, Kym M KM; Schwartz, Charles E CE; Sadikovic, Bekim B

Publication Date: 2018-11-20

Variant appearance in text: ARID1A: 725G>C; Gly242Ala

PubMed Link: 30459321

Variant Present in the following documents:

• Main text
• 41467_2018_Article_7193.pdf

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