Items where Author is "Ip, Eddie"

Article

Blue, Gillian M. and Mekel, Mauk and Das, Debjani and Troup, Michael and Rath, Emma and Ip, Eddie and Gudkov, Mikhail and Perumal, Gopinath and Harvey, Richard P. and Sholler, Gary F. and Gecz, Jozef and Kirk, Edwin P. and Liu, Jinfen and Giannoulatou, Eleni and Hong, Haifa and Dunwoodie, Sally L. and Winlaw, David S. (2022) Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes. American Heart Journal, 244. pp.1-13. ISSN 00028703

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

Martin, Ella M M A and Enriquez, Annabelle and Sparrow, Duncan B and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Duncan, Emma L and Iyer, Kavitha R and Greasby, Joelene A and Ip, Eddie and Giannoulatou, Eleni and Sheng, Delicia and Wohler, Elizabeth and Dimartino, Clémantine and Amiel, Jeanne and Capri, Yline and Lehalle, Daphné and Mory, Adi and Wilnai, Yael and Lebenthal, Yael and Gharavi, Ali G and Krzemień, Grażyna G and Miklaszewska, Monika and Steiner, Robert D and Raggio, Cathy and Blank, Robert and Baris Feldman, Hagit and Milo Rasouly, Hila and Sobreira, Nara L M and Jobling, Rebekah and Gordon, Christopher T and Giampietro, Philip F and Dunwoodie, Sally L and Chapman, Gavin (2020) Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human Molecular Genetics, 29 (22). pp.3662-3678. ISSN 0964-6906

Ip, Eddie and Chapman, Gavin and Winlaw, David and Dunwoodie, Sally L. and Giannoulatou, Eleni (2019) VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants. Genomics, Proteomics & Bioinformatics. ISSN 16720229

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)

Blue, Gillian M and Ip, Eddie and Walker, Karen and Kirk, Edwin P and Loughran-Fowlds, Alison and Sholler, Gary F and Dunwoodie, Sally L and Harvey, Richard P and Giannoulatou, Eleni and Badawi, Nadia and Winlaw, David S (2018) Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease. American Heart Journal, 201. pp.33-39. ISSN 00028703 (Not OA)

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)

Shi, Hongjun and Enriquez, Annabelle and Rapadas, Melissa and Martin, Ella M M A and Wang, Roni and Moreau, Julie and Lim, Chai K and Szot, Justin O and Ip, Eddie and Hughes, James N and Sugimoto, Kotaro and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Maghzal, Ghassan J and Halliday, Jake and Smith, Janine and Colley, Alison and Mark, Paul R and Collins, Felicity and Sillence, David O and Winlaw, David S and Ho, Joshua W K and Guillemin, Gilles J and Brown, Matthew A and Kikuchi, Kazu and Thomas, Paul Q and Stocker, Roland and Giannoulatou, Eleni and Chapman, Gavin and Duncan, Emma L and Sparrow, Duncan B and Dunwoodie, Sally L (2017) NAD Deficiency, Congenital Malformations, and Niacin Supplementation. The New England Journal of Medicine, 377 (6). pp.544-552. ISSN 1533-4406 (OA)

Monger, Steven and Troup, Michael and Ip, Eddie and Dunwoodie, Sally L and Giannoulatou, Eleni and Birol, Inanc (2016) Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants. Bioinformatics. ISSN 1367-4803

Thesis

Ip, Eddie (2020) Using Computational Methods to Identify the Genetic Causes of Congenital Heart Disease. PhD thesis, Victor Chang Cardiac Research Institute & St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney.