Items where Author is "Alankarage, Dimuthu"

Article

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

Patrick, Ralph and Kirk, Edwin P and Moradi Marjaneh, Mahdi and Alankarage, Dimuthu and Humphreys, David T and Del Monte-Nieto, Gonzalo and Cornejo-Paramo, Paola and Janbandhu, Vaibhao and Doan, Tram B and Dunwoodie, Sally L and Wong, Emily S and Moran, Chris and Martin, Ian CA and Thomson, Peter C and Harvey, Richard P (2023) Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line. eLife, 12. ISSN 2050-084X

Yang, Andrian and Alankarage, Dimuthu and Cuny, Hartmut and Ip, Eddie K.K. and Almog, Moran and Lu, Jessica and Das, Debjani and Enriquez, Annabelle and Szot, Justin O. and Humphreys, David T. and Blue, Gillian M. and Ho, Joshua W.K. and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2022) CHDgene: A Curated Database for Congenital Heart Disease Genes. Circulation: Genomic and Precision Medicine, 15 (3). ISSN 2574-8300

Alankarage, Dimuthu and Enriquez, Annabelle and Steiner, Robert D. and Raggio, Cathy and Higgins, Megan and Milnes, Di and Humphreys, David T. and Duncan, Emma L. and Sparrow, Duncan B. and Giampietro, Philip F. and Chapman, Gavin and Dunwoodie, Sally L. (2022) Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors. Differentiation, 128. pp.1-12. ISSN 03014681

Chapman, Gavin and Moreau, Julie L M and Ip, Eddie and Szot, Justin O and Iyer, Kavitha R and Shi, Hongjun and Yam, Michelle X and O’Reilly, Victoria C and Enriquez, Annabelle and Greasby, Joelene A and Alankarage, Dimuthu and Martin, Ella M M A and Hanna, Bernadette C and Edwards, Matthew and Monger, Steven and Blue, Gillian M and Winlaw, David and Ritchie, Helen E and Grieve, Stuart M and Giannoulatou, Eleni and Sparrow, Duncan B and Dunwoodie, Sally L (2020) Functional genomics and gene-environment interaction highlight the complexity of Congenital Heart Disease caused by Notch pathway variants. Human Molecular Genetics. ISSN 0964-6906

Alankarage, Dimuthu and Szot, Justin O and Pachter, Nick and Slavotinek, Anne and Selleri, Licia and Shieh, Joseph T and Winlaw, David and Giannoulatou, Eleni and Chapman, Gavin and Dunwoodie, Sally L (2020) Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Human Molecular Genetics. ISSN 0964-6906

Alankarage, Dimuthu and Ip, Eddie and Szot, Justin O and Munro, Jacob and Blue, Gillian M and Harrison, Katrina and Cuny, Hartmut and Enriquez, Annabelle and Troup, Michael and Humphreys, David T and Wilson, Meredith and Harvey, Richard P and Sholler, Gary F and Graham, Robert M and Ho, Joshua W K and Kirk, Edwin P and Pachter, Nicholas and Chapman, Gavin and Winlaw, David S and Giannoulatou, Eleni and Dunwoodie, Sally L (2018) Identification of clinically actionable variants from genome sequencing of families with congenital heart disease. Genetics in Medicine, ePub. ISSN 1098-3600 (Not OA)