Items where Author is "Pachter, Nicholas S"

Article

Szot, Justin O and Cuny, Hartmut and Blue, Gillian M and Humphreys, David T and Ip, Eddie and Harrison, Katrina and Sholler, Gary F and Giannoulatou, Eleni and Leo, Paul J and Duncan, Emma L and Sparrow, Duncan B and Ho, Joshua W K and Graham, Robert M and Pachter, Nicholas S and Chapman, Gavin and Winlaw, David S and Dunwoodie, Sally L (2018) A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. Circulation: Genomic and Precision Medicine, 11 (3). pp. e001978. ISSN (Not OA)

Slavotinek, Anne and Risolino, Maurizio and Losa, Marta and Cho, Megan T and Monaghan, Kristin G. and Schneidman-Duhovny, Dina and Parisotto, Sarah and Herkert, Johanna C and Stegmann, Alexander P.A. and Miller, Kathryn and Shur, Natasha and Chui, Jacqueline and Muller, Eric and DeBrosse, Suzanne and Szot, Justin O and Chapman, Gavin and Pachter, Nicholas S and Winlaw, David S and Mendelsohn, Bryce A. and Dalton, Joline and Sarafoglou, Kyriakie and Karachunski, Peter I. and Lewis, Jane M and Pedro, Helio and Dunwoodie, Sally L and Selleri, Licia and Shieh, Joseph (2017) De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Human Molecular Genetics, 26 (24). pp.4849-4860. ISSN 0964-6906 (Not OA)