Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide
Blue, Gillian M, Kirk, Edwin P, Giannoulatou, Eleni, Sholler, Gary F, Dunwoodie, Sally L, Harvey, Richard P, Winlaw, David S
Published in Journal of the American College of Cardiology (21.02.2017)
Published in Journal of the American College of Cardiology (21.02.2017)
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Journal Article
Congenital heart disease: current knowledge about causes and inheritance
Blue, Gillian M, Kirk, Edwin P, Sholler, Gary F, Harvey, Richard P, Winlaw, David S
Published in Medical journal of Australia (06.08.2012)
Published in Medical journal of Australia (06.08.2012)
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Journal Article
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease
Blue, Gillian M., MSc, Kirk, Edwin P., MBBS, PhD, Giannoulatou, Eleni, MEng, MPhil, DPhil, Dunwoodie, Sally L., PhD, Ho, Joshua W.K., PhD, Hilton, Desiree C.K., PhD, White, Susan M., MBBS, Sholler, Gary F., MBBS (Hons), Harvey, Richard P., PhD, Winlaw, David S., MBBS, MD
Published in Journal of the American College of Cardiology (16.12.2014)
Published in Journal of the American College of Cardiology (16.12.2014)
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Journal Article
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
Soemedi, Rachel, Wilson, Ian J., Bentham, Jamie, Darlay, Rebecca, Töpf, Ana, Zelenika, Diana, Cosgrove, Catherine, Setchfield, Kerry, Thornborough, Chris, Granados-Riveron, Javier, Blue, Gillian M., Breckpot, Jeroen, Hellens, Stephen, Zwolinkski, Simon, Glen, Elise, Mamasoula, Chrysovalanto, Rahman, Thahira J., Hall, Darroch, Rauch, Anita, Devriendt, Koenraad, Gewillig, Marc, O’ Sullivan, John, Winlaw, David S., Bu’Lock, Frances, Brook, J. David, Bhattacharya, Shoumo, Lathrop, Mark, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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Journal Article
ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data
Gudkov, Mikhail, Thibaut, Loïc, Khushi, Matloob, Blue, Gillian M, Winlaw, David S, Dunwoodie, Sally L, Giannoulatou, Eleni
Published in BMC bioinformatics (15.02.2023)
Published in BMC bioinformatics (15.02.2023)
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Journal Article
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes
Blue, Gillian M., Mekel, Mauk, Das, Debjani, Troup, Michael, Rath, Emma, Ip, Eddie, Gudkov, Mikhail, Perumal, Gopinath, Harvey, Richard P., Sholler, Gary F., Gecz, Jozef, Kirk, Edwin P., Liu, Jinfen, Giannoulatou, Eleni, Hong, Haifa, Dunwoodie, Sally L., Winlaw, David S.
Published in The American heart journal (01.02.2022)
Published in The American heart journal (01.02.2022)
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Journal Article
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data
Szot, Justin O, Cuny, Hartmut, Blue, Gillian M, Humphreys, David T, Ip, Eddie, Harrison, Katrina, Sholler, Gary F, Giannoulatou, Eleni, Leo, Paul, Duncan, Emma L, Sparrow, Duncan B, Ho, Joshua W K, Graham, Robert M, Pachter, Nicholas, Chapman, Gavin, Winlaw, David S, Dunwoodie, Sally L
Published in Circulation. Cardiovascular genetics (01.03.2018)
Published in Circulation. Cardiovascular genetics (01.03.2018)
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Journal Article
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
Alankarage, Dimuthu, Ip, Eddie, Szot, Justin O., Munro, Jacob, Blue, Gillian M., Harrison, Katrina, Cuny, Hartmut, Enriquez, Annabelle, Troup, Michael, Humphreys, David T., Wilson, Meredith, Harvey, Richard P., Sholler, Gary F., Graham, Robert M., Ho, Joshua W. K., Kirk, Edwin P., Pachter, Nicholas, Chapman, Gavin, Winlaw, David S., Giannoulatou, Eleni, Dunwoodie, Sally L.
Published in Genetics in medicine (01.05.2019)
Published in Genetics in medicine (01.05.2019)
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Journal Article
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants
Chapman, Gavin, Moreau, Julie L M, I P, Eddie, Szot, Justin O, Iyer, Kavitha R, Shi, Hongjun, Yam, Michelle X, O’Reilly, Victoria C, Enriquez, Annabelle, Greasby, Joelene A, Alankarage, Dimuthu, Martin, Ella M M A, Hanna, Bernadette C, Edwards, Matthew, Monger, Steven, Blue, Gillian M, Winlaw, David S, Ritchie, Helen E, Grieve, Stuart M, Giannoulatou, Eleni, Sparrow, Duncan B, Dunwoodie, Sally L
Published in Human molecular genetics (13.03.2020)
Published in Human molecular genetics (13.03.2020)
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Journal Article
Insights into the genetic architecture underlying complex, critical congenital heart disease
Blue, Gillian M., Ip, Eddie K.K., Troup, Michael, Dale, Russell C., Sholler, Gary F., Harvey, Richard P., Dunwoodie, Sally L., Giannoulatou, Eleni, Winlaw, David S.
Published in The American heart journal (01.12.2022)
Published in The American heart journal (01.12.2022)
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Journal Article
A Universal and Robust Integrated Platform for the Scalable Production of Human Cardiomyocytes From Pluripotent Stem Cells
Fonoudi, Hananeh, Ansari, Hassan, Abbasalizadeh, Saeed, Larijani, Mehran Rezaei, Kiani, Sahar, Hashemizadeh, Shiva, Zarchi, Ali Sharifi, Bosman, Alexis, Blue, Gillian M., Pahlavan, Sara, Perry, Matthew, Orr, Yishay, Mayorchak, Yaroslav, Vandenberg, Jamie, Talkhabi, Mahmood, Winlaw, David S., Harvey, Richard P., Aghdami, Nasser, Baharvand, Hossein
Published in Stem cells translational medicine (01.12.2015)
Published in Stem cells translational medicine (01.12.2015)
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Journal Article
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Soemedi, Rachel, Topf, Ana, Wilson, Ian J., Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bu'Lock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M., Winlaw, David S., Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.
Published in Human molecular genetics (01.04.2012)
Published in Human molecular genetics (01.04.2012)
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Journal Article
A new era of genetic testing in congenital heart disease: A review
Morrish, Ansley M., Smith, Janine, Enriquez, Annabelle, Sholler, Gary F., Mervis, Jonathan, Dunwoodie, Sally L., Kirk, Edwin P., Winlaw, David S., Blue, Gillian M.
Published in Trends in cardiovascular medicine (01.07.2022)
Published in Trends in cardiovascular medicine (01.07.2022)
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Journal Article
‘Big issues’ in neurodevelopment for children and adults with congenital heart disease
Verrall, Charlotte E, Blue, Gillian M, Loughran-Fowlds, Alison, Kasparian, Nadine, Gecz, Jozef, Walker, Karen, Dunwoodie, Sally L, Cordina, Rachael, Sholler, Gary, Badawi, Nadia, Winlaw, David
Published in Open heart (2019)
Published in Open heart (2019)
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Journal Article
A validated heart-specific model for splice-disrupting variants in childhood heart disease
Lesurf, Robert, Breckpot, Jeroen, Bouwmeester, Jade, Hanafi, Nour, Jain, Anjali, Liang, Yijing, Papaz, Tanya, Lougheed, Jane, Mondal, Tapas, Alsalehi, Mahmoud, Altamirano-Diaz, Luis, Oechslin, Erwin, Audain, Enrique, Dombrowsky, Gregor, Postma, Alex V, Woudstra, Odilia I, Bouma, Berto J, Hitz, Marc-Phillip, Bezzina, Connie R, Blue, Gillian M, Winlaw, David S, Mital, Seema
Published in Genome medicine (15.10.2024)
Published in Genome medicine (15.10.2024)
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Journal Article
Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease
Blue, Gillian M., Ip, Eddie, Walker, Karen, Kirk, Edwin P., Loughran-Fowlds, Alison, Sholler, Gary F., Dunwoodie, Sally L., Harvey, Richard P., Giannoulatou, Eleni, Badawi, Nadia, Winlaw, David S.
Published in The American heart journal (01.07.2018)
Published in The American heart journal (01.07.2018)
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Journal Article
The Kids Heart BioBank: supporting 20 years of patient care and research into CHD
Hilton, Desiree C K, O'Malley, Bridget R, Cole, Andrew D, Harvey, Richard P, Dunwoodie, Sally L, Sholler, Gary F, Winlaw, David S, Blue, Gillian M
Published in Cardiology in the young (26.09.2024)
Published in Cardiology in the young (26.09.2024)
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Journal Article
Management of People With a Fontan Circulation: a Cardiac Society of Australia and New Zealand Position statement
Zentner, Dominica, Celermajer, David S., Gentles, Thomas, d’Udekem, Yves, Ayer, Julian, Blue, Gillian M., Bridgman, Cameron, Burchill, Luke, Cheung, Michael, Cordina, Rachael, Culnane, Evelyn, Davis, Andrew, du Plessis, Karin, Eagleson, Karen, Finucane, Kirsten, Frank, Belinda, Greenway, Sebastian, Grigg, Leeanne, Hardikar, Winita, Hornung, Tim, Hynson, Jenny, Iyengar, Ajay J., James, Paul, Justo, Robert, Kalman, Jonathan, Kasparian, Nadine, Le, Brian, Marshall, Kate, Mathew, Jacob, McGiffin, David, McGuire, Mark, Monagle, Paul, Moore, Ben, Neilsen, Julie, O’Connor, Bernadette, O’Donnell, Clare, Pflaumer, Andreas, Rice, Kathryn, Sholler, Gary, Skinner, Jonathan R., Sood, Siddharth, Ward, Juliet, Weintraub, Robert, Wilson, Tom, Wilson, William, Winlaw, David, Wood, Angela
Published in Heart, lung & circulation (01.01.2020)
Published in Heart, lung & circulation (01.01.2020)
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