Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN

Por Fowler, Anna, Mahamdallie, Shazia, Ruark, Elise, Seal, Sheila, Ramsay, Emma, Clarke, Matthew, Uddin, Imran, Wylie, Harriet, Strydom, Ann, Lunter, Gerton, Rahman, Nazneen
Publicado no Wellcome Open Res (2016)

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

Por Tatton-Brown, Katrina, Loveday, Chey, Yost, Shawn, Clarke, Matthew, Ramsay, Emma, Zachariou, Anna, Elliott, Anna, Wylie, Harriet, Ardissone, Anna, Rittinger, Olaf, Stewart, Fiona, Temple, I. Karen, Cole, Trevor, Mahamdallie, Shazia, Seal, Sheila, Ruark, Elise, Rahman, Nazneen
Publicado no Am J Hum Genet (2017)

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

Por Yost, Shawn, de Wolf, Bas, Hanks, Sandra, Zachariou, Anna, Marcozzi, Chiara, Clarke, Matthew, de Voer, Richarda, Etemad, Banafsheh, Uijttewaal, Esther, Ramsay, Emma, Wylie, Harriet, Elliott, Anna, Picton, Susan, Smith, Audrey, Smithson, Sarah, Seal, Sheila, Ruark, Elise, Houge, Gunnar, Pines, Jonathan, Kops, Geert J.P.L., Rahman, Nazneen
Publicado no Nat Genet (2017)