Items where Author is "Portelli, Stephanie"

Article

Alankarage, Dimuthu and Leshchynska, Iryna and Portelli, Stephanie and Sipka, Alena and Blue, Gillian M. and O’Reilly, Victoria and Das, Debjani and Rath, Emma M. and Enriquez, Annabelle and Troup, Michael and Fine, Miriam and Poplawski, Nicola and Verlee, Maxim and Humphreys, David T. and Harvey, Richard P. and Chapman, Gavin and Kirk, Edwin P. and Winlaw, David S. and Callewaert, Bert and Chung, Wendy K. and Ascher, David and Giannoulatou, Eleni and Dunwoodie, Sally L. (2025) Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease. Human Genetics and Genomics Advances, 6 (4). p. 100478. ISSN 26662477

Szot, Justin O. and Cuny, Hartmut and Martin, Ella M.M.A. and Sheng, Delicia Z. and Iyer, Kavitha and Portelli, Stephanie and Nguyen, Vivien and Gereis, Jessica M. and Alankarage, Dimuthu and Chitayat, David and Chong, Karen and Wentzensen, Ingrid M. and Vincent-Delormé, Catherine and Lermine, Alban and Burkitt-Wright, Emma and Ji, Weizhen and Jeffries, Lauren and Pais, Lynn S. and Tan, Tiong Y. and Pitt, James and Wise, Cheryl A. and Wright, Helen and Andrews, Israel D. and Pruniski, Brianna and Grebe, Theresa A. and Corsten-Janssen, Nicole and Bouman, Katelijne and Poulton, Cathryn and Prakash, Supraja and Keren, Boris and Brown, Natasha J. and Hunter, Matthew F. and Heath, Oliver and Lakhani, Saquib A. and McDermott, John H. and Ascher, David B. and Chapman, Gavin and Bozon, Kayleigh and Dunwoodie, Sally L. (2024) A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal of Clinical Investigation, 134 (4). ISSN 1558-8238